Canonical Allele Identifier: CA2260775502

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076558G= , CM000679.2:g.43076558G=	GRCh38
NC_000017.10:g.41228575G= , CM000679.1:g.41228575G=	GRCh37
NC_000017.9:g.38482101G=	NCBI36
NG_005905.2:g.141426C= , LRG_292:g.141426C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4411C=	ENSP00000417241.2:p.Leu1471=
ENST00000470026.6:c.4414C=	ENSP00000419274.2:p.Leu1472=
ENST00000473961.6:c.4288C=	ENSP00000420201.2:p.Leu1430=
ENST00000476777.6:c.4408C=	ENSP00000417554.2:p.Leu1470=
ENST00000477152.6:c.4336C=	ENSP00000419988.2:p.Leu1446=
ENST00000478531.6:c.1102C=	ENSP00000420412.2:p.Leu368=
ENST00000489037.2:c.4336C=	ENSP00000420781.2:p.Leu1446=
ENST00000493919.6:c.964C=	ENSP00000418819.2:p.Leu322=
ENST00000494123.6:c.4414C=	ENSP00000419103.2:p.Leu1472=
ENST00000497488.2:c.3526C=	ENSP00000418986.2:p.Leu1176=
ENST00000618469.2:c.4414C=	ENSP00000478114.2:p.Leu1472=
ENST00000634433.2:c.4291C=	ENSP00000489431.2:p.Leu1431=
ENST00000644379.2:c.4480C=	ENSP00000496570.2:p.Leu1494=
ENST00000644555.2:c.964C=	ENSP00000494614.2:p.Leu322=
ENST00000652672.2:c.4273C=	ENSP00000498906.2:p.Leu1425=
ENST00000484087.6:c.976C=	ENSP00000419481.2:p.Leu326=
ENST00000700182.1:c.1021C=	ENSP00000514849.1:p.Leu341=
ENST00000357654.9:c.4414C= MANE Select	ENSP00000350283.3:p.Leu1472=
ENST00000471181.7:c.4477C=	ENSP00000418960.2:p.Leu1493=
ENST00000644379.1:c.801C=
ENST00000352993.7:c.988C=	ENSP00000312236.5:p.Leu330=
ENST00000357654.7:c.4414C=	ENSP00000350283.3:p.Leu1472=
ENST00000461221.5:c.*4197C=	ENSP00000418548.1:n.*4197C=
ENST00000461574.1:c.705C=
ENST00000468300.5:c.1102C=	ENSP00000417148.1:p.Leu368=
ENST00000471181.6:c.4477C=	ENSP00000418960.2:p.Leu1493=
ENST00000478531.5:c.1102C=	ENSP00000420412.1:p.Leu368=
ENST00000484087.5:c.727C=	ENSP00000419481.1:p.Leu243=
ENST00000487825.5:c.730C=	ENSP00000418212.1:p.Leu244=
ENST00000491747.6:c.1102C=	ENSP00000420705.2:p.Leu368=
ENST00000493795.5:c.4273C=	ENSP00000418775.1:p.Leu1425=
ENST00000493919.5:c.964C=	ENSP00000418819.1:p.Leu322=
ENST00000586385.5:c.5-12607C=	ENSP00000465818.1:n.5-12607C=
ENST00000591534.5:c.-43-2037C=	ENSP00000467329.1:n.-43-2037C=
ENST00000591849.5:c.-98-26368C=	ENSP00000465347.1:n.-98-26368C=
ENST00000621897.1:n.305C=
NM_007294.3:c.4414C= , LRG_292t1:c.4414C=	NP_009225.1:p.Leu1472=
NM_007297.3:c.4273C=	NP_009228.2:p.Leu1425=
NM_007298.3:c.1102C=	NP_009229.2:p.Leu368=
NM_007299.3:c.1102C=	NP_009230.2:p.Leu368=
NM_007300.3:c.4477C=	NP_009231.2:p.Leu1493=
NR_027676.1:n.4550C=
NM_007294.4:c.4414C= MANE Select	NP_009225.1:p.Leu1472=
NM_007297.4:c.4273C=	NP_009228.2:p.Leu1425=
NM_007299.4:c.1102C=	NP_009230.2:p.Leu368=
NM_007300.4:c.4477C=	NP_009231.2:p.Leu1493=
NR_027676.2:n.4591C=