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: CA369540745
Community Standard Title: NM_004333.6(BRAF):c.1937T>C (p.Leu646Pro)
Gene: BRAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140749342A>G , CM000669.2:g.140749342A>G GRCh38
NC_000007.13:g.140449142A>G , CM000669.1:g.140449142A>G GRCh37
NC_000007.12:g.140095611A>G NCBI36
NG_007873.3:g.180423T>C , LRG_299:g.180423T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004333.6:c.1937T>C MANE Select NP_004324.2:p.Leu646Pro
ENST00000646891.2:c.1937T>C MANE Select ENSP00000493543.1:p.Leu646Pro
NM_001374258.1:c.2057T>C MANE Plus Clinical NP_001361187.1:p.Leu686Pro
ENST00000644969.2:c.2057T>C MANE Plus Clinical ENSP00000496776.1:p.Leu686Pro
NM_001354609.1:c.1937T>C NP_001341538.1:p.Leu646Pro
NM_001354609.2:c.1937T>C NP_001341538.1:p.Leu646Pro
NM_001374244.1:c.2057T>C NP_001361173.1:p.Leu686Pro
NM_001378467.1:c.1946T>C NP_001365396.1:p.Leu649Pro
NM_001378468.1:c.1937T>C NP_001365397.1:p.Leu646Pro
NM_001378469.1:c.1871T>C NP_001365398.1:p.Leu624Pro
NM_001378470.1:c.1835T>C NP_001365399.1:p.Leu612Pro
NM_001378471.1:c.1826T>C NP_001365400.1:p.Leu609Pro
NM_001378472.1:c.1781T>C NP_001365401.1:p.Leu594Pro
NM_001378473.1:c.1781T>C NP_001365402.1:p.Leu594Pro
NM_001378474.1:c.1937T>C NP_001365403.1:p.Leu646Pro
NM_001378475.1:c.1673T>C NP_001365404.1:p.Leu558Pro
NM_004333.4:c.1937T>C , LRG_299t1:c.1937T>C NP_004324.2:p.Leu646Pro
NM_004333.5:c.1937T>C NP_004324.2:p.Leu646Pro
NR_148928.1:n.3035T>C
ENST00000288602.10:c.1937T>C ENSP00000288602.6:p.Leu646Pro
ENST00000288602.11:c.2057T>C ENSP00000288602.7:p.Leu686Pro
ENST00000479537.5:c.221T>C ENSP00000418033.1:p.Leu74Pro
ENST00000479537.6:c.607T>C
ENST00000496384.6:c.760T>C
ENST00000496384.7:c.1937T>C ENSP00000419060.2:p.Leu646Pro
ENST00000497784.1:c.1972T>C ENSP00000420119.1:n.1972T>C
ENST00000497784.2:c.*1387T>C ENSP00000420119.2:n.*1387T>C
ENST00000642228.1:c.*1015T>C ENSP00000493678.1:n.*1015T>C
ENST00000642875.1:n.1335T>C
ENST00000644120.1:n.2327T>C
ENST00000644650.1:c.1033T>C
ENST00000644905.1:n.2819T>C
ENST00000646730.1:c.*513T>C ENSP00000494784.1:n.*513T>C
ENST00000646891.1:c.1937T>C ENSP00000493543.1:p.Leu646Pro
ENST00000647434.1:c.814T>C ENSP00000495132.1:p.Cys272Arg
XM_005250045.1:c.1937T>C XP_005250102.1:p.Leu646Pro
XM_005250046.1:c.1937T>C XP_005250103.1:p.Leu646Pro
XM_011516529.1:c.1937T>C XP_011514831.1:p.Leu646Pro
XM_011516530.1:c.1771T>C XP_011514832.1:p.Cys591Arg
XM_017012558.1:c.2057T>C XP_016868047.1:p.Leu686Pro
XM_017012559.1:c.2057T>C XP_016868048.1:p.Leu686Pro
XR_001744857.1:n.2065T>C
XR_001744858.1:n.1899T>C
XR_242190.1:n.1945T>C
XR_927520.1:n.1945T>C
XR_927521.1:n.1945T>C
XR_927522.1:n.1779T>C
XR_927523.1:n.1779T>C