Canonical Allele Identifier: CA003357

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37648
• ClinVar RCV Id: RCV000031229 ; RCV000048857 ; RCV000131291 ; RCV000195366 ; RCV000585878
• dbSNP Id: rs45553935
• gnomAD v4: 17-43057122-A-G
• MyVariant Identifiers: chr17:g.41209139A>G (hg19) ; chr17:g.43057122A>G (hg38)
• PubMed: PMID:15004537 ; PMID:15172985 ; PMID:15235020 ; PMID:16267036 ; PMID:16280041 ; PMID:17305420 ; PMID:17308087 ; PMID:17924331 ; PMID:20378548 ; PMID:20516115 ; PMID:21447777 ; PMID:21702907 ; PMID:21965345 ; PMID:22476429 ; PMID:23269703 ; PMID:23580280 ; PMID:23867111 ; PMID:24240112 ; PMID:25452441 ; PMID:25472942 ; PMID:25748678 ; PMID:25782689 ; PMID:26219728 ; PMID:26295337 ; PMID:26786923 ; PMID:26913838 ; PMID:28283652

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057122A>G , CM000679.2:g.43057122A>G	GRCh38
NC_000017.10:g.41209139A>G , CM000679.1:g.41209139A>G	GRCh37
NC_000017.9:g.38462665A>G	NCBI36
NG_005905.2:g.160862T>C , LRG_292:g.160862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5204T>C	ENSP00000417241.2:p.Val1735Ala
ENST00000470026.6:c.5207T>C	ENSP00000419274.2:p.Val1736Ala
ENST00000473961.6:c.5081T>C	ENSP00000420201.2:p.Val1694Ala
ENST00000476777.6:c.5201T>C	ENSP00000417554.2:p.Val1734Ala
ENST00000477152.6:c.5129T>C	ENSP00000419988.2:p.Val1710Ala
ENST00000478531.6:c.1895T>C	ENSP00000420412.2:p.Val632Ala
ENST00000489037.2:c.5129T>C	ENSP00000420781.2:p.Val1710Ala
ENST00000493919.6:c.1757T>C	ENSP00000418819.2:p.Val586Ala
ENST00000494123.6:c.5207T>C	ENSP00000419103.2:p.Val1736Ala
ENST00000497488.2:c.4319T>C	ENSP00000418986.2:p.Val1440Ala
ENST00000618469.2:c.5207T>C	ENSP00000478114.2:p.Val1736Ala
ENST00000634433.2:c.5084T>C	ENSP00000489431.2:p.Val1695Ala
ENST00000644379.2:c.5273T>C	ENSP00000496570.2:p.Val1758Ala
ENST00000644555.2:c.1757T>C	ENSP00000494614.2:p.Val586Ala
ENST00000652672.2:c.5066T>C	ENSP00000498906.2:p.Val1689Ala
ENST00000484087.6:c.1769T>C	ENSP00000419481.2:p.Val590Ala
ENST00000357654.9:c.5207T>C MANE Select	ENSP00000350283.3:p.Val1736Ala
ENST00000471181.7:c.5270T>C	ENSP00000418960.2:p.Val1757Ala
ENST00000644379.1:c.1594T>C
ENST00000352993.7:c.1781T>C	ENSP00000312236.5:p.Val594Ala
ENST00000357654.7:c.5207T>C	ENSP00000350283.3:p.Val1736Ala
ENST00000461221.5:c.*4990T>C	ENSP00000418548.1:n.*4990T>C
ENST00000468300.5:c.1895T>C	ENSP00000417148.1:p.Val632Ala
ENST00000471181.6:c.5270T>C	ENSP00000418960.2:p.Val1757Ala
ENST00000491747.6:c.1895T>C	ENSP00000420705.2:p.Val632Ala
ENST00000493795.5:c.5066T>C	ENSP00000418775.1:p.Val1689Ala
ENST00000586385.5:c.137T>C	ENSP00000465818.1:p.Val46Ala
ENST00000591534.5:c.680T>C	ENSP00000467329.1:p.Val227Ala
ENST00000591849.5:c.-98-6932T>C	ENSP00000465347.1:n.-98-6932T>C
NM_007294.3:c.5207T>C , LRG_292t1:c.5207T>C	NP_009225.1:p.Val1736Ala
NM_007297.3:c.5066T>C	NP_009228.2:p.Val1689Ala
NM_007298.3:c.1895T>C	NP_009229.2:p.Val632Ala
NM_007299.3:c.1895T>C	NP_009230.2:p.Val632Ala
NM_007300.3:c.5270T>C	NP_009231.2:p.Val1757Ala
NR_027676.1:n.5343T>C
NM_007294.4:c.5207T>C MANE Select	NP_009225.1:p.Val1736Ala
NM_007297.4:c.5066T>C	NP_009228.2:p.Val1689Ala
NM_007299.4:c.1895T>C	NP_009230.2:p.Val632Ala
NM_007300.4:c.5270T>C	NP_009231.2:p.Val1757Ala
NR_027676.2:n.5384T>C