Canonical Allele Identifier: CA2260784834

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094330C= , CM000679.2:g.43094330C=	GRCh38
NC_000017.10:g.41246347C= , CM000679.1:g.41246347C=	GRCh37
NC_000017.9:g.38499873C=	NCBI36
NG_005905.2:g.123654G= , LRG_292:g.123654G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1265G=
ENST00000461574.2:c.1201G=	ENSP00000417241.2:p.Gly401=
ENST00000470026.6:c.1201G=	ENSP00000419274.2:p.Gly401=
ENST00000473961.6:c.1075G=	ENSP00000420201.2:p.Gly359=
ENST00000476777.6:c.1198G=	ENSP00000417554.2:p.Gly400=
ENST00000477152.6:c.1123G=	ENSP00000419988.2:p.Gly375=
ENST00000478531.6:c.784+414G=	ENSP00000420412.2:n.784+414G=
ENST00000489037.2:c.1123G=	ENSP00000420781.2:p.Gly375=
ENST00000493919.6:c.646+414G=	ENSP00000418819.2:n.646+414G=
ENST00000494123.6:c.1201G=	ENSP00000419103.2:p.Gly401=
ENST00000497488.2:c.313G=	ENSP00000418986.2:p.Gly105=
ENST00000618469.2:c.1201G=	ENSP00000478114.2:p.Gly401=
ENST00000634433.2:c.1078G=	ENSP00000489431.2:p.Gly360=
ENST00000644379.2:c.1201G=	ENSP00000496570.2:p.Gly401=
ENST00000644555.2:c.646+414G=	ENSP00000494614.2:n.646+414G=
ENST00000652672.2:c.1060G=	ENSP00000498906.2:p.Gly354=
ENST00000484087.6:c.664+414G=	ENSP00000419481.2:n.664+414G=
ENST00000700182.1:c.706+414G=	ENSP00000514849.1:n.706+414G=
ENST00000700183.1:c.*1209G=	ENSP00000514850.1:n.*1209G=
ENST00000357654.9:c.1201G= MANE Select	ENSP00000350283.3:p.Gly401=
ENST00000471181.7:c.1201G=	ENSP00000418960.2:p.Gly401=
ENST00000652672.1:c.1060G=	ENSP00000498906.1:p.Gly354=
ENST00000352993.7:c.670+1516G=	ENSP00000312236.5:n.670+1516G=
ENST00000354071.7:c.1201G=	ENSP00000326002.7:p.Gly401=
ENST00000357654.7:c.1201G=	ENSP00000350283.3:p.Gly401=
ENST00000412061.3:c.552G=
ENST00000461221.5:c.*984G=	ENSP00000418548.1:n.*984G=
ENST00000468300.5:c.787+414G=	ENSP00000417148.1:n.787+414G=
ENST00000470026.5:c.1201G=	ENSP00000419274.1:p.Gly401=
ENST00000471181.6:c.1201G=	ENSP00000418960.2:p.Gly401=
ENST00000473961.5:c.798G=
ENST00000477152.5:c.1123G=	ENSP00000419988.1:p.Gly375=
ENST00000478531.5:c.784+414G=	ENSP00000420412.1:n.784+414G=
ENST00000484087.5:c.409+414G=	ENSP00000419481.1:n.409+414G=
ENST00000487825.5:c.412+414G=	ENSP00000418212.1:n.412+414G=
ENST00000491747.6:c.787+414G=	ENSP00000420705.2:n.787+414G=
ENST00000492859.5:c.*1137G=	ENSP00000420253.1:n.*1137G=
ENST00000493795.5:c.1060G=	ENSP00000418775.1:p.Gly354=
ENST00000493919.5:c.646+414G=	ENSP00000418819.1:n.646+414G=
ENST00000494123.5:c.1201G=	ENSP00000419103.1:p.Gly401=
ENST00000497488.1:c.313G=	ENSP00000418986.1:p.Gly105=
ENST00000586385.5:c.5-30379G=	ENSP00000465818.1:n.5-30379G=
ENST00000591534.5:c.-43-19809G=	ENSP00000467329.1:n.-43-19809G=
ENST00000591849.5:c.-99+30941G=	ENSP00000465347.1:n.-99+30941G=
ENST00000634433.1:c.1078G=	ENSP00000489431.1:p.Gly360=
NM_007294.3:c.1201G= , LRG_292t1:c.1201G=	NP_009225.1:p.Gly401=
NM_007297.3:c.1060G=	NP_009228.2:p.Gly354=
NM_007298.3:c.787+414G=	NP_009229.2:n.787+414G=
NM_007299.3:c.787+414G=	NP_009230.2:n.787+414G=
NM_007300.3:c.1201G=	NP_009231.2:p.Gly401=
NR_027676.1:n.1337G=
NM_007294.4:c.1201G= MANE Select	NP_009225.1:p.Gly401=
NM_007297.4:c.1060G=	NP_009228.2:p.Gly354=
NM_007299.4:c.787+414G=	NP_009230.2:n.787+414G=
NM_007300.4:c.1201G=	NP_009231.2:p.Gly401=
NR_027676.2:n.1378G=