This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA10596656
Community Standard Title: NM_007294.4(BRCA1):c.2671T>C (p.Ser891Pro)
Gene: BRCA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092860A>G , CM000679.2:g.43092860A>G GRCh38
NC_000017.10:g.41244877A>G , CM000679.1:g.41244877A>G GRCh37
NC_000017.9:g.38498403A>G NCBI36
NG_005905.2:g.125124T>C , LRG_292:g.125124T>C

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.2671T>C MANE Select NP_009225.1:p.Ser891Pro
ENST00000357654.9:c.2671T>C MANE Select ENSP00000350283.3:p.Ser891Pro
NM_007294.3:c.2671T>C , LRG_292t1:c.2671T>C NP_009225.1:p.Ser891Pro
NM_007297.3:c.2530T>C NP_009228.2:p.Ser844Pro
NM_007297.4:c.2530T>C NP_009228.2:p.Ser844Pro
NM_007298.3:c.788-1828T>C NP_009229.2:n.788-1828T>C
NM_007299.3:c.788-1828T>C NP_009230.2:n.788-1828T>C
NM_007299.4:c.788-1828T>C NP_009230.2:n.788-1828T>C
NM_007300.3:c.2671T>C NP_009231.2:p.Ser891Pro
NM_007300.4:c.2671T>C NP_009231.2:p.Ser891Pro
NR_027676.1:n.2807T>C
NR_027676.2:n.2848T>C
ENST00000352993.7:c.671-1828T>C ENSP00000312236.5:n.671-1828T>C
ENST00000354071.7:c.2671T>C ENSP00000326002.7:p.Ser891Pro
ENST00000354071.8:n.2735T>C
ENST00000357654.7:c.2671T>C ENSP00000350283.3:p.Ser891Pro
ENST00000461221.5:c.*2454T>C ENSP00000418548.1:n.*2454T>C
ENST00000461574.2:c.2671T>C ENSP00000417241.2:p.Ser891Pro
ENST00000468300.5:c.788-1828T>C ENSP00000417148.1:n.788-1828T>C
ENST00000470026.6:c.2671T>C ENSP00000419274.2:p.Ser891Pro
ENST00000471181.6:c.2671T>C ENSP00000418960.2:p.Ser891Pro
ENST00000471181.7:c.2671T>C ENSP00000418960.2:p.Ser891Pro
ENST00000473961.6:c.2545T>C ENSP00000420201.2:p.Ser849Pro
ENST00000476777.6:c.2668T>C ENSP00000417554.2:p.Ser890Pro
ENST00000477152.6:c.2593T>C ENSP00000419988.2:p.Ser865Pro
ENST00000478531.5:c.785-1828T>C ENSP00000420412.1:n.785-1828T>C
ENST00000478531.6:c.785-1828T>C ENSP00000420412.2:n.785-1828T>C
ENST00000484087.5:c.410-1828T>C ENSP00000419481.1:n.410-1828T>C
ENST00000484087.6:c.665-1828T>C ENSP00000419481.2:n.665-1828T>C
ENST00000487825.5:c.413-1828T>C ENSP00000418212.1:n.413-1828T>C
ENST00000489037.2:c.2593T>C ENSP00000420781.2:p.Ser865Pro
ENST00000491747.6:c.788-1828T>C ENSP00000420705.2:n.788-1828T>C
ENST00000493795.5:c.2530T>C ENSP00000418775.1:p.Ser844Pro
ENST00000493919.5:c.647-1828T>C ENSP00000418819.1:n.647-1828T>C
ENST00000493919.6:c.647-1828T>C ENSP00000418819.2:n.647-1828T>C
ENST00000494123.6:c.2671T>C ENSP00000419103.2:p.Ser891Pro
ENST00000497488.2:c.1783T>C ENSP00000418986.2:p.Ser595Pro
ENST00000586385.5:c.5-28909T>C ENSP00000465818.1:n.5-28909T>C
ENST00000591534.5:c.-43-18339T>C ENSP00000467329.1:n.-43-18339T>C
ENST00000591849.5:c.-99+32411T>C ENSP00000465347.1:n.-99+32411T>C
ENST00000618469.2:c.2671T>C ENSP00000478114.2:p.Ser891Pro
ENST00000634433.2:c.2548T>C ENSP00000489431.2:p.Ser850Pro
ENST00000644379.2:c.2671T>C ENSP00000496570.2:p.Ser891Pro
ENST00000644555.2:c.647-1828T>C ENSP00000494614.2:n.647-1828T>C
ENST00000652672.2:c.2530T>C ENSP00000498906.2:p.Ser844Pro
ENST00000700182.1:c.707-1828T>C ENSP00000514849.1:n.707-1828T>C
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