Canonical Allele Identifier: CA2260775477

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076530G= , CM000679.2:g.43076530G=	GRCh38
NC_000017.10:g.41228547G= , CM000679.1:g.41228547G=	GRCh37
NC_000017.9:g.38482073G=	NCBI36
NG_005905.2:g.141454C= , LRG_292:g.141454C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4439C=	ENSP00000417241.2:p.Ala1480=
ENST00000470026.6:c.4442C=	ENSP00000419274.2:p.Ala1481=
ENST00000473961.6:c.4316C=	ENSP00000420201.2:p.Ala1439=
ENST00000476777.6:c.4436C=	ENSP00000417554.2:p.Ala1479=
ENST00000477152.6:c.4364C=	ENSP00000419988.2:p.Ala1455=
ENST00000478531.6:c.1130C=	ENSP00000420412.2:p.Ala377=
ENST00000489037.2:c.4364C=	ENSP00000420781.2:p.Ala1455=
ENST00000493919.6:c.992C=	ENSP00000418819.2:p.Ala331=
ENST00000494123.6:c.4442C=	ENSP00000419103.2:p.Ala1481=
ENST00000497488.2:c.3554C=	ENSP00000418986.2:p.Ala1185=
ENST00000618469.2:c.4442C=	ENSP00000478114.2:p.Ala1481=
ENST00000634433.2:c.4319C=	ENSP00000489431.2:p.Ala1440=
ENST00000644379.2:c.4508C=	ENSP00000496570.2:p.Ala1503=
ENST00000644555.2:c.992C=	ENSP00000494614.2:p.Ala331=
ENST00000652672.2:c.4301C=	ENSP00000498906.2:p.Ala1434=
ENST00000484087.6:c.1004C=	ENSP00000419481.2:p.Ala335=
ENST00000700182.1:c.1049C=	ENSP00000514849.1:p.Ala350=
ENST00000357654.9:c.4442C= MANE Select	ENSP00000350283.3:p.Ala1481=
ENST00000471181.7:c.4505C=	ENSP00000418960.2:p.Ala1502=
ENST00000644379.1:c.829C=
ENST00000352993.7:c.1016C=	ENSP00000312236.5:p.Ala339=
ENST00000357654.7:c.4442C=	ENSP00000350283.3:p.Ala1481=
ENST00000461221.5:c.*4225C=	ENSP00000418548.1:n.*4225C=
ENST00000468300.5:c.1130C=	ENSP00000417148.1:p.Ala377=
ENST00000471181.6:c.4505C=	ENSP00000418960.2:p.Ala1502=
ENST00000478531.5:c.1130C=	ENSP00000420412.1:p.Ala377=
ENST00000484087.5:c.755C=	ENSP00000419481.1:p.Ala252=
ENST00000487825.5:c.758C=	ENSP00000418212.1:p.Ala253=
ENST00000491747.6:c.1130C=	ENSP00000420705.2:p.Ala377=
ENST00000493795.5:c.4301C=	ENSP00000418775.1:p.Ala1434=
ENST00000493919.5:c.992C=	ENSP00000418819.1:p.Ala331=
ENST00000586385.5:c.5-12579C=	ENSP00000465818.1:n.5-12579C=
ENST00000591534.5:c.-43-2009C=	ENSP00000467329.1:n.-43-2009C=
ENST00000591849.5:c.-98-26340C=	ENSP00000465347.1:n.-98-26340C=
ENST00000621897.1:n.333C=
NM_007294.3:c.4442C= , LRG_292t1:c.4442C=	NP_009225.1:p.Ala1481=
NM_007297.3:c.4301C=	NP_009228.2:p.Ala1434=
NM_007298.3:c.1130C=	NP_009229.2:p.Ala377=
NM_007299.3:c.1130C=	NP_009230.2:p.Ala377=
NM_007300.3:c.4505C=	NP_009231.2:p.Ala1502=
NR_027676.1:n.4578C=
NM_007294.4:c.4442C= MANE Select	NP_009225.1:p.Ala1481=
NM_007297.4:c.4301C=	NP_009228.2:p.Ala1434=
NM_007299.4:c.1130C=	NP_009230.2:p.Ala377=
NM_007300.4:c.4505C=	NP_009231.2:p.Ala1502=
NR_027676.2:n.4619C=