Canonical Allele Identifier: CA2260771328

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067625T= , CM000679.2:g.43067625T=	GRCh38
NC_000017.10:g.41219642T= , CM000679.1:g.41219642T=	GRCh37
NC_000017.9:g.38473168T=	NCBI36
NG_005905.2:g.150359A= , LRG_292:g.150359A=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5057A= MANE Select	NP_009225.1:p.His1686=
ENST00000357654.9:c.5057A= MANE Select	ENSP00000350283.3:p.His1686=
NM_007294.3:c.5057A= , LRG_292t1:c.5057A=	NP_009225.1:p.His1686=
NM_007297.3:c.4916A=	NP_009228.2:p.His1639=
NM_007297.4:c.4916A=	NP_009228.2:p.His1639=
NM_007298.3:c.1745A=	NP_009229.2:p.His582=
NM_007299.3:c.1745A=	NP_009230.2:p.His582=
NM_007299.4:c.1745A=	NP_009230.2:p.His582=
NM_007300.3:c.5120A=	NP_009231.2:p.His1707=
NM_007300.4:c.5120A=	NP_009231.2:p.His1707=
NR_027676.1:n.5193A=
NR_027676.2:n.5234A=
ENST00000352993.7:c.1631A=	ENSP00000312236.5:p.His544=
ENST00000357654.7:c.5057A=	ENSP00000350283.3:p.His1686=
ENST00000461221.5:c.*4840A=	ENSP00000418548.1:n.*4840A=
ENST00000461574.2:c.5054A=	ENSP00000417241.2:p.His1685=
ENST00000468300.5:c.1745A=	ENSP00000417148.1:p.His582=
ENST00000470026.6:c.5057A=	ENSP00000419274.2:p.His1686=
ENST00000471181.6:c.5120A=	ENSP00000418960.2:p.His1707=
ENST00000471181.7:c.5120A=	ENSP00000418960.2:p.His1707=
ENST00000472490.1:n.210A=
ENST00000473961.6:c.4931A=	ENSP00000420201.2:p.His1644=
ENST00000476777.6:c.5051A=	ENSP00000417554.2:p.His1684=
ENST00000477152.6:c.4979A=	ENSP00000419988.2:p.His1660=
ENST00000478531.5:c.1745A=	ENSP00000420412.1:p.His582=
ENST00000478531.6:c.1745A=	ENSP00000420412.2:p.His582=
ENST00000484087.5:c.1370A=	ENSP00000419481.1:p.His457=
ENST00000484087.6:c.1619A=	ENSP00000419481.2:p.His540=
ENST00000489037.2:c.4979A=	ENSP00000420781.2:p.His1660=
ENST00000491747.6:c.1745A=	ENSP00000420705.2:p.His582=
ENST00000493795.5:c.4916A=	ENSP00000418775.1:p.His1639=
ENST00000493919.5:c.1607A=	ENSP00000418819.1:p.His536=
ENST00000493919.6:c.1607A=	ENSP00000418819.2:p.His536=
ENST00000494123.6:c.5057A=	ENSP00000419103.2:p.His1686=
ENST00000497488.2:c.4169A=	ENSP00000418986.2:p.His1390=
ENST00000586385.5:c.5-3674A=	ENSP00000465818.1:n.5-3674A=
ENST00000591534.5:c.530A=	ENSP00000467329.1:p.His177=
ENST00000591849.5:c.-98-17435A=	ENSP00000465347.1:n.-98-17435A=
ENST00000618469.2:c.5057A=	ENSP00000478114.2:p.His1686=
ENST00000634433.2:c.4934A=	ENSP00000489431.2:p.His1645=
ENST00000644379.1:c.1444A=
ENST00000644379.2:c.5123A=	ENSP00000496570.2:p.His1708=
ENST00000644555.2:c.1607A=	ENSP00000494614.2:p.His536=
ENST00000652672.2:c.4916A=	ENSP00000498906.2:p.His1639=