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: CA000550
Community Standard Title: NM_000314.8(PTEN):c.-701G>A
Gene: PTEN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863769G>A , CM000672.2:g.87863769G>A GRCh38
NC_000010.10:g.89623526G>A , CM000672.1:g.89623526G>A GRCh37
NC_000010.9:g.89613506G>A NCBI36
NG_007466.2:g.5332G>A , LRG_311:g.5332G>A
NG_033079.1:g.4669C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.-701G>A MANE Select NP_000305.3:n.-701G>A
ENST00000371953.8:c.-701G>A MANE Select ENSP00000361021.3:n.-701G>A
NM_000314.5:c.-700G>A NP_000305.3:n.-700G>A
NM_000314.6:c.-700G>A NP_000305.3:n.-700G>A
NM_000314.7:c.-700G>A NP_000305.3:n.-700G>A
NM_001304717.2:c.-181G>A NP_001291646.2:n.-181G>A
NM_001304717.5:c.-181G>A NP_001291646.4:n.-181G>A
NM_001304718.1:c.-1405G>A NP_001291647.1:n.-1405G>A
NM_001304718.2:c.-1405G>A NP_001291647.1:n.-1405G>A
ENST00000371953.7:c.-701G>A ENSP00000361021.3:n.-701G>A
ENST00000610634.1:c.-803G>A ENSP00000477517.1:n.-803G>A
ENST00000688158.1:c.-701G>A ENSP00000509254.1:n.-701G>A
ENST00000688308.1:c.-17+656G>A ENSP00000508752.1:n.-17+656G>A
ENST00000693560.1:c.-181G>A ENSP00000509861.1:n.-181G>A
ENST00000700029.2:c.-701G>A ENSP00000514759.2:n.-701G>A
ENST00000706953.1:c.61G>A ENSP00000516673.1:p.Gly21Ser
ENST00000706954.1:c.-16-685G>A ENSP00000516674.1:n.-16-685G>A
ENST00000706955.1:c.-701G>A ENSP00000516675.1:n.-701G>A
ENST00000710265.1:c.-701G>A ENSP00000518161.1:n.-701G>A
XM_006717926.2:c.-701G>A XP_006717989.1:n.-701G>A
XM_011539981.1:c.-701G>A XP_011538283.1:n.-701G>A
XR_945789.1:n.12G>A
XR_945790.1:n.12G>A
XR_945791.1:n.12G>A
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