Canonical Allele Identifier: CA10591121

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5204T>A	ENSP00000417241.2:p.Val1735Asp
ENST00000470026.6:c.5207T>A	ENSP00000419274.2:p.Val1736Asp
ENST00000473961.6:c.5081T>A	ENSP00000420201.2:p.Val1694Asp
ENST00000476777.6:c.5201T>A	ENSP00000417554.2:p.Val1734Asp
ENST00000477152.6:c.5129T>A	ENSP00000419988.2:p.Val1710Asp
ENST00000478531.6:c.1895T>A	ENSP00000420412.2:p.Val632Asp
ENST00000489037.2:c.5129T>A	ENSP00000420781.2:p.Val1710Asp
ENST00000493919.6:c.1757T>A	ENSP00000418819.2:p.Val586Asp
ENST00000494123.6:c.5207T>A	ENSP00000419103.2:p.Val1736Asp
ENST00000497488.2:c.4319T>A	ENSP00000418986.2:p.Val1440Asp
ENST00000618469.2:c.5207T>A	ENSP00000478114.2:p.Val1736Asp
ENST00000634433.2:c.5084T>A	ENSP00000489431.2:p.Val1695Asp
ENST00000644379.2:c.5273T>A	ENSP00000496570.2:p.Val1758Asp
ENST00000644555.2:c.1757T>A	ENSP00000494614.2:p.Val586Asp
ENST00000652672.2:c.5066T>A	ENSP00000498906.2:p.Val1689Asp
ENST00000484087.6:c.1769T>A	ENSP00000419481.2:p.Val590Asp
ENST00000357654.9:c.5207T>A MANE Select	ENSP00000350283.3:p.Val1736Asp
ENST00000471181.7:c.5270T>A	ENSP00000418960.2:p.Val1757Asp
ENST00000644379.1:c.1594T>A
ENST00000352993.7:c.1781T>A	ENSP00000312236.5:p.Val594Asp
ENST00000357654.7:c.5207T>A	ENSP00000350283.3:p.Val1736Asp
ENST00000461221.5:c.*4990T>A	ENSP00000418548.1:n.*4990T>A
ENST00000468300.5:c.1895T>A	ENSP00000417148.1:p.Val632Asp
ENST00000471181.6:c.5270T>A	ENSP00000418960.2:p.Val1757Asp
ENST00000491747.6:c.1895T>A	ENSP00000420705.2:p.Val632Asp
ENST00000493795.5:c.5066T>A	ENSP00000418775.1:p.Val1689Asp
ENST00000586385.5:c.137T>A	ENSP00000465818.1:p.Val46Asp
ENST00000591534.5:c.680T>A	ENSP00000467329.1:p.Val227Asp
ENST00000591849.5:c.-98-6932T>A	ENSP00000465347.1:n.-98-6932T>A
NM_007294.3:c.5207T>A , LRG_292t1:c.5207T>A	NP_009225.1:p.Val1736Asp
NM_007297.3:c.5066T>A	NP_009228.2:p.Val1689Asp
NM_007298.3:c.1895T>A	NP_009229.2:p.Val632Asp
NM_007299.3:c.1895T>A	NP_009230.2:p.Val632Asp
NM_007300.3:c.5270T>A	NP_009231.2:p.Val1757Asp
NR_027676.1:n.5343T>A
NM_007294.4:c.5207T>A MANE Select	NP_009225.1:p.Val1736Asp
NM_007297.4:c.5066T>A	NP_009228.2:p.Val1689Asp
NM_007299.4:c.1895T>A	NP_009230.2:p.Val632Asp
NM_007300.4:c.5270T>A	NP_009231.2:p.Val1757Asp
NR_027676.2:n.5384T>A