Canonical Allele Identifier: CA003714

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55627
• ClinVar RCV Id: RCV000112703 ; RCV000563885 ; RCV002285262 ; RCV000757927 ; RCV003162422
• dbSNP Id: rs80357258
• gnomAD v4: 17-43045712-T-C
• MyVariant Identifiers: chr17:g.41197729T>C (hg19) ; chr17:g.43045712T>C (hg38)
• PubMed: PMID:14534301 ; PMID:15133503 ; PMID:15235020 ; PMID:15609993 ; PMID:15689452 ; PMID:16528612 ; PMID:17305420 ; PMID:18508631 ; PMID:19016756 ; PMID:20378548 ; PMID:20516115 ; PMID:23842040 ; PMID:24249303

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045712T>C , CM000679.2:g.43045712T>C	GRCh38
NC_000017.10:g.41197729T>C , CM000679.1:g.41197729T>C	GRCh37
NC_000017.9:g.38451255T>C	NCBI36
NG_005905.2:g.172272A>G , LRG_292:g.172272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5555A>G	ENSP00000417241.2:p.Tyr1852Cys
ENST00000470026.6:c.5558A>G	ENSP00000419274.2:p.Tyr1853Cys
ENST00000473961.6:c.5432A>G	ENSP00000420201.2:p.Tyr1811Cys
ENST00000476777.6:c.5552A>G	ENSP00000417554.2:p.Tyr1851Cys
ENST00000477152.6:c.5480A>G	ENSP00000419988.2:p.Tyr1827Cys
ENST00000478531.6:c.2246A>G	ENSP00000420412.2:p.Tyr749Cys
ENST00000489037.2:c.5480A>G	ENSP00000420781.2:p.Tyr1827Cys
ENST00000493919.6:c.2108A>G	ENSP00000418819.2:p.Tyr703Cys
ENST00000494123.6:c.5558A>G	ENSP00000419103.2:p.Tyr1853Cys
ENST00000497488.2:c.4670A>G	ENSP00000418986.2:p.Tyr1557Cys
ENST00000618469.2:c.5558A>G	ENSP00000478114.2:p.Tyr1853Cys
ENST00000634433.2:c.5435A>G	ENSP00000489431.2:p.Tyr1812Cys
ENST00000644379.2:c.5624A>G	ENSP00000496570.2:p.Tyr1875Cys
ENST00000644555.2:c.2108A>G	ENSP00000494614.2:p.Tyr703Cys
ENST00000652672.2:c.5417A>G	ENSP00000498906.2:p.Tyr1806Cys
ENST00000484087.6:c.2120A>G	ENSP00000419481.2:p.Tyr707Cys
ENST00000700081.1:n.1441A>G
ENST00000700082.1:n.922A>G
ENST00000357654.9:c.5558A>G MANE Select	ENSP00000350283.3:p.Tyr1853Cys
ENST00000471181.7:c.5621A>G	ENSP00000418960.2:p.Tyr1874Cys
ENST00000644379.1:c.1945A>G
ENST00000352993.7:c.2132A>G	ENSP00000312236.5:p.Tyr711Cys
ENST00000357654.7:c.5558A>G	ENSP00000350283.3:p.Tyr1853Cys
ENST00000461221.5:c.*5341A>G	ENSP00000418548.1:n.*5341A>G
ENST00000468300.5:c.*72A>G	ENSP00000417148.1:n.*72A>G
ENST00000471181.6:c.5621A>G	ENSP00000418960.2:p.Tyr1874Cys
ENST00000491747.6:c.2246A>G	ENSP00000420705.2:p.Tyr749Cys
ENST00000493795.5:c.5417A>G	ENSP00000418775.1:p.Tyr1806Cys
ENST00000586385.5:c.488A>G	ENSP00000465818.1:p.Tyr163Cys
ENST00000591534.5:c.1031A>G	ENSP00000467329.1:p.Tyr344Cys
ENST00000591849.5:c.257A>G	ENSP00000465347.1:p.Tyr86Cys
NM_007294.3:c.5558A>G , LRG_292t1:c.5558A>G	NP_009225.1:p.Tyr1853Cys
NM_007297.3:c.5417A>G	NP_009228.2:p.Tyr1806Cys
NM_007298.3:c.2246A>G	NP_009229.2:p.Tyr749Cys
NM_007299.3:c.*72A>G	NP_009230.2:n.*72A>G
NM_007300.3:c.5621A>G	NP_009231.2:p.Tyr1874Cys
NR_027676.1:n.5694A>G
NM_007294.4:c.5558A>G MANE Select	NP_009225.1:p.Tyr1853Cys
NM_007297.4:c.5417A>G	NP_009228.2:p.Tyr1806Cys
NM_007299.4:c.*72A>G	NP_009230.2:n.*72A>G
NM_007300.4:c.5621A>G	NP_009231.2:p.Tyr1874Cys
NR_027676.2:n.5735A>G