Canonical Allele Identifier: CA003358

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55456
• ClinVar RCV Id: RCV000112563 ; RCV001171388 ; RCV001023725 ; RCV000585937
• dbSNP Id: rs45553935
• MyVariant Identifiers: chr17:g.41209139A>C (hg19) ; chr17:g.43057122A>C (hg38)
• PubMed: PMID:15385441 ; PMID:16267036 ; PMID:17305420 ; PMID:20516115

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5204T>G	ENSP00000417241.2:p.Val1735Gly
ENST00000470026.6:c.5207T>G	ENSP00000419274.2:p.Val1736Gly
ENST00000473961.6:c.5081T>G	ENSP00000420201.2:p.Val1694Gly
ENST00000476777.6:c.5201T>G	ENSP00000417554.2:p.Val1734Gly
ENST00000477152.6:c.5129T>G	ENSP00000419988.2:p.Val1710Gly
ENST00000478531.6:c.1895T>G	ENSP00000420412.2:p.Val632Gly
ENST00000489037.2:c.5129T>G	ENSP00000420781.2:p.Val1710Gly
ENST00000493919.6:c.1757T>G	ENSP00000418819.2:p.Val586Gly
ENST00000494123.6:c.5207T>G	ENSP00000419103.2:p.Val1736Gly
ENST00000497488.2:c.4319T>G	ENSP00000418986.2:p.Val1440Gly
ENST00000618469.2:c.5207T>G	ENSP00000478114.2:p.Val1736Gly
ENST00000634433.2:c.5084T>G	ENSP00000489431.2:p.Val1695Gly
ENST00000644379.2:c.5273T>G	ENSP00000496570.2:p.Val1758Gly
ENST00000644555.2:c.1757T>G	ENSP00000494614.2:p.Val586Gly
ENST00000652672.2:c.5066T>G	ENSP00000498906.2:p.Val1689Gly
ENST00000484087.6:c.1769T>G	ENSP00000419481.2:p.Val590Gly
ENST00000357654.9:c.5207T>G MANE Select	ENSP00000350283.3:p.Val1736Gly
ENST00000471181.7:c.5270T>G	ENSP00000418960.2:p.Val1757Gly
ENST00000644379.1:c.1594T>G
ENST00000352993.7:c.1781T>G	ENSP00000312236.5:p.Val594Gly
ENST00000357654.7:c.5207T>G	ENSP00000350283.3:p.Val1736Gly
ENST00000461221.5:c.*4990T>G	ENSP00000418548.1:n.*4990T>G
ENST00000468300.5:c.1895T>G	ENSP00000417148.1:p.Val632Gly
ENST00000471181.6:c.5270T>G	ENSP00000418960.2:p.Val1757Gly
ENST00000491747.6:c.1895T>G	ENSP00000420705.2:p.Val632Gly
ENST00000493795.5:c.5066T>G	ENSP00000418775.1:p.Val1689Gly
ENST00000586385.5:c.137T>G	ENSP00000465818.1:p.Val46Gly
ENST00000591534.5:c.680T>G	ENSP00000467329.1:p.Val227Gly
ENST00000591849.5:c.-98-6932T>G	ENSP00000465347.1:n.-98-6932T>G
NM_007294.3:c.5207T>G , LRG_292t1:c.5207T>G	NP_009225.1:p.Val1736Gly
NM_007297.3:c.5066T>G	NP_009228.2:p.Val1689Gly
NM_007298.3:c.1895T>G	NP_009229.2:p.Val632Gly
NM_007299.3:c.1895T>G	NP_009230.2:p.Val632Gly
NM_007300.3:c.5270T>G	NP_009231.2:p.Val1757Gly
NR_027676.1:n.5343T>G
NM_007294.4:c.5207T>G MANE Select	NP_009225.1:p.Val1736Gly
NM_007297.4:c.5066T>G	NP_009228.2:p.Val1689Gly
NM_007299.4:c.1895T>G	NP_009230.2:p.Val632Gly
NM_007300.4:c.5270T>G	NP_009231.2:p.Val1757Gly
NR_027676.2:n.5384T>G