Canonical Allele Identifier: CA2260762011

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047680C= , CM000679.2:g.43047680C=	GRCh38
NC_000017.10:g.41199697C= , CM000679.1:g.41199697C=	GRCh37
NC_000017.9:g.38453223C=	NCBI36
NG_005905.2:g.170304G= , LRG_292:g.170304G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5427G=	ENSP00000417241.2:p.Val1809=
ENST00000470026.6:c.5430G=	ENSP00000419274.2:p.Val1810=
ENST00000473961.6:c.5304G=	ENSP00000420201.2:p.Val1768=
ENST00000476777.6:c.5424G=	ENSP00000417554.2:p.Val1808=
ENST00000477152.6:c.5352G=	ENSP00000419988.2:p.Val1784=
ENST00000478531.6:c.2118G=	ENSP00000420412.2:p.Val706=
ENST00000489037.2:c.5352G=	ENSP00000420781.2:p.Val1784=
ENST00000493919.6:c.1980G=	ENSP00000418819.2:p.Val660=
ENST00000494123.6:c.5430G=	ENSP00000419103.2:p.Val1810=
ENST00000497488.2:c.4542G=	ENSP00000418986.2:p.Val1514=
ENST00000618469.2:c.5430G=	ENSP00000478114.2:p.Val1810=
ENST00000634433.2:c.5307G=	ENSP00000489431.2:p.Val1769=
ENST00000644379.2:c.5496G=	ENSP00000496570.2:p.Val1832=
ENST00000644555.2:c.1980G=	ENSP00000494614.2:p.Val660=
ENST00000652672.2:c.5289G=	ENSP00000498906.2:p.Val1763=
ENST00000484087.6:c.1992G=	ENSP00000419481.2:p.Val664=
ENST00000700081.1:n.1313G=
ENST00000700082.1:n.794G=
ENST00000357654.9:c.5430G= MANE Select	ENSP00000350283.3:p.Val1810=
ENST00000471181.7:c.5493G=	ENSP00000418960.2:p.Val1831=
ENST00000644379.1:c.1817G=
ENST00000352993.7:c.2004G=	ENSP00000312236.5:p.Val668=
ENST00000357654.7:c.5430G=	ENSP00000350283.3:p.Val1810=
ENST00000461221.5:c.*5213G=	ENSP00000418548.1:n.*5213G=
ENST00000468300.5:c.2044G=	ENSP00000417148.1:p.Ala682=
ENST00000471181.6:c.5493G=	ENSP00000418960.2:p.Val1831=
ENST00000491747.6:c.2118G=	ENSP00000420705.2:p.Val706=
ENST00000493795.5:c.5289G=	ENSP00000418775.1:p.Val1763=
ENST00000586385.5:c.360G=	ENSP00000465818.1:p.Val120=
ENST00000591534.5:c.903G=	ENSP00000467329.1:p.Val301=
ENST00000591849.5:c.129G=	ENSP00000465347.1:p.Val43=
NM_007294.3:c.5430G= , LRG_292t1:c.5430G=	NP_009225.1:p.Val1810=
NM_007297.3:c.5289G=	NP_009228.2:p.Val1763=
NM_007298.3:c.2118G=	NP_009229.2:p.Val706=
NM_007299.3:c.2044G=	NP_009230.2:p.Ala682=
NM_007300.3:c.5493G=	NP_009231.2:p.Val1831=
NR_027676.1:n.5566G=
NM_007294.4:c.5430G= MANE Select	NP_009225.1:p.Val1810=
NM_007297.4:c.5289G=	NP_009228.2:p.Val1763=
NM_007299.4:c.2044G=	NP_009230.2:p.Ala682=
NM_007300.4:c.5493G=	NP_009231.2:p.Val1831=
NR_027676.2:n.5607G=