Canonical Allele Identifier: CA2260762018

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047687A= , CM000679.2:g.43047687A=	GRCh38
NC_000017.10:g.41199704A= , CM000679.1:g.41199704A=	GRCh37
NC_000017.9:g.38453230A=	NCBI36
NG_005905.2:g.170297T= , LRG_292:g.170297T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5420T=	ENSP00000417241.2:p.Val1807=
ENST00000470026.6:c.5423T=	ENSP00000419274.2:p.Val1808=
ENST00000473961.6:c.5297T=	ENSP00000420201.2:p.Val1766=
ENST00000476777.6:c.5417T=	ENSP00000417554.2:p.Val1806=
ENST00000477152.6:c.5345T=	ENSP00000419988.2:p.Val1782=
ENST00000478531.6:c.2111T=	ENSP00000420412.2:p.Val704=
ENST00000489037.2:c.5345T=	ENSP00000420781.2:p.Val1782=
ENST00000493919.6:c.1973T=	ENSP00000418819.2:p.Val658=
ENST00000494123.6:c.5423T=	ENSP00000419103.2:p.Val1808=
ENST00000497488.2:c.4535T=	ENSP00000418986.2:p.Val1512=
ENST00000618469.2:c.5423T=	ENSP00000478114.2:p.Val1808=
ENST00000634433.2:c.5300T=	ENSP00000489431.2:p.Val1767=
ENST00000644379.2:c.5489T=	ENSP00000496570.2:p.Val1830=
ENST00000644555.2:c.1973T=	ENSP00000494614.2:p.Val658=
ENST00000652672.2:c.5282T=	ENSP00000498906.2:p.Val1761=
ENST00000484087.6:c.1985T=	ENSP00000419481.2:p.Val662=
ENST00000700081.1:n.1306T=
ENST00000700082.1:n.787T=
ENST00000357654.9:c.5423T= MANE Select	ENSP00000350283.3:p.Val1808=
ENST00000471181.7:c.5486T=	ENSP00000418960.2:p.Val1829=
ENST00000644379.1:c.1810T=
ENST00000352993.7:c.1997T=	ENSP00000312236.5:p.Val666=
ENST00000357654.7:c.5423T=	ENSP00000350283.3:p.Val1808=
ENST00000461221.5:c.*5206T=	ENSP00000418548.1:n.*5206T=
ENST00000468300.5:c.2037T=	ENSP00000417148.1:p.Cys679=
ENST00000471181.6:c.5486T=	ENSP00000418960.2:p.Val1829=
ENST00000491747.6:c.2111T=	ENSP00000420705.2:p.Val704=
ENST00000493795.5:c.5282T=	ENSP00000418775.1:p.Val1761=
ENST00000586385.5:c.353T=	ENSP00000465818.1:p.Val118=
ENST00000591534.5:c.896T=	ENSP00000467329.1:p.Val299=
ENST00000591849.5:c.122T=	ENSP00000465347.1:p.Val41=
NM_007294.3:c.5423T= , LRG_292t1:c.5423T=	NP_009225.1:p.Val1808=
NM_007297.3:c.5282T=	NP_009228.2:p.Val1761=
NM_007298.3:c.2111T=	NP_009229.2:p.Val704=
NM_007299.3:c.2037T=	NP_009230.2:p.Cys679=
NM_007300.3:c.5486T=	NP_009231.2:p.Val1829=
NR_027676.1:n.5559T=
NM_007294.4:c.5423T= MANE Select	NP_009225.1:p.Val1808=
NM_007297.4:c.5282T=	NP_009228.2:p.Val1761=
NM_007299.4:c.2037T=	NP_009230.2:p.Cys679=
NM_007300.4:c.5486T=	NP_009231.2:p.Val1829=
NR_027676.2:n.5600T=