Canonical Allele Identifier: CA10639760
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323419
ClinVar RCV Id: RCV000282439
dbSNP Id: rs886052973

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045291A>C , CM000679.2:g.43045291A>C GRCh38
NC_000017.10:g.41197308A>C , CM000679.1:g.41197308A>C GRCh37
NC_000017.9:g.38450834A>C NCBI36
NG_005905.2:g.172693T>G , LRG_292:g.172693T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.*387T>G ENSP00000417241.2:n.*387T>G
ENST00000470026.6:c.*387T>G ENSP00000419274.2:n.*387T>G
ENST00000473961.6:c.*387T>G ENSP00000420201.2:n.*387T>G
ENST00000476777.6:c.*387T>G ENSP00000417554.2:n.*387T>G
ENST00000477152.6:c.*387T>G ENSP00000419988.2:n.*387T>G
ENST00000478531.6:c.*387T>G ENSP00000420412.2:n.*387T>G
ENST00000489037.2:c.*387T>G ENSP00000420781.2:n.*387T>G
ENST00000493919.6:c.*387T>G ENSP00000418819.2:n.*387T>G
ENST00000494123.6:c.*387T>G ENSP00000419103.2:n.*387T>G
ENST00000497488.2:c.*387T>G ENSP00000418986.2:n.*387T>G
ENST00000618469.2:c.*387T>G ENSP00000478114.2:n.*387T>G
ENST00000634433.2:c.*387T>G ENSP00000489431.2:n.*387T>G
ENST00000644379.2:c.*387T>G ENSP00000496570.2:n.*387T>G
ENST00000644555.2:c.*387T>G ENSP00000494614.2:n.*387T>G
ENST00000652672.2:c.*387T>G ENSP00000498906.2:n.*387T>G
ENST00000700081.1:n.1862T>G
ENST00000700082.1:n.1343T>G
ENST00000357654.9:c.*387T>G MANE Select ENSP00000350283.3:n.*387T>G
ENST00000471181.7:c.*387T>G ENSP00000418960.2:n.*387T>G
ENST00000644379.1:c.2366T>G
ENST00000352993.7:c.*387T>G ENSP00000312236.5:n.*387T>G
ENST00000357654.7:c.*387T>G ENSP00000350283.3:n.*387T>G
ENST00000468300.5:c.*493T>G ENSP00000417148.1:n.*493T>G
NM_007294.3:c.*387T>G , LRG_292t1:c.*387T>G NP_009225.1:n.*387T>G
NM_007297.3:c.*387T>G NP_009228.2:n.*387T>G
NM_007298.3:c.*387T>G NP_009229.2:n.*387T>G
NM_007299.3:c.*493T>G NP_009230.2:n.*493T>G
NM_007300.3:c.*387T>G NP_009231.2:n.*387T>G
NR_027676.1:n.6115T>G
NM_007294.4:c.*387T>G MANE Select NP_009225.1:n.*387T>G
NM_007297.4:c.*387T>G NP_009228.2:n.*387T>G
NM_007299.4:c.*493T>G NP_009230.2:n.*493T>G
NM_007300.4:c.*387T>G NP_009231.2:n.*387T>G
NR_027676.2:n.6156T>G