Canonical Allele Identifier: CA2260777980

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082443C= , CM000679.2:g.43082443C=	GRCh38
NC_000017.10:g.41234460C= , CM000679.1:g.41234460C=	GRCh37
NC_000017.9:g.38487986C=	NCBI36
NG_005905.2:g.135541G= , LRG_292:g.135541G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4318G=	ENSP00000417241.2:p.Glu1440=
ENST00000470026.6:c.4318G=	ENSP00000419274.2:p.Glu1440=
ENST00000473961.6:c.4192G=	ENSP00000420201.2:p.Glu1398=
ENST00000476777.6:c.4312G=	ENSP00000417554.2:p.Glu1438=
ENST00000477152.6:c.4240G=	ENSP00000419988.2:p.Glu1414=
ENST00000478531.6:c.1006G=	ENSP00000420412.2:p.Glu336=
ENST00000489037.2:c.4240G=	ENSP00000420781.2:p.Glu1414=
ENST00000493919.6:c.868G=	ENSP00000418819.2:p.Glu290=
ENST00000494123.6:c.4318G=	ENSP00000419103.2:p.Glu1440=
ENST00000497488.2:c.3430G=	ENSP00000418986.2:p.Glu1144=
ENST00000618469.2:c.4318G=	ENSP00000478114.2:p.Glu1440=
ENST00000634433.2:c.4195G=	ENSP00000489431.2:p.Glu1399=
ENST00000644379.2:c.4318G=	ENSP00000496570.2:p.Glu1440=
ENST00000644555.2:c.868G=	ENSP00000494614.2:p.Glu290=
ENST00000652672.2:c.4177G=	ENSP00000498906.2:p.Glu1393=
ENST00000484087.6:c.883G=	ENSP00000419481.2:p.Glu295=
ENST00000700182.1:c.928G=	ENSP00000514849.1:p.Glu310=
ENST00000357654.9:c.4318G= MANE Select	ENSP00000350283.3:p.Glu1440=
ENST00000471181.7:c.4318G=	ENSP00000418960.2:p.Glu1440=
ENST00000644379.1:c.639G=
ENST00000352993.7:c.892G=	ENSP00000312236.5:p.Glu298=
ENST00000357654.7:c.4318G=	ENSP00000350283.3:p.Glu1440=
ENST00000461221.5:c.*4101G=	ENSP00000418548.1:n.*4101G=
ENST00000461574.1:c.612G=
ENST00000468300.5:c.1009G=	ENSP00000417148.1:p.Glu337=
ENST00000471181.6:c.4318G=	ENSP00000418960.2:p.Glu1440=
ENST00000478531.5:c.1006G=	ENSP00000420412.1:p.Glu336=
ENST00000484087.5:c.631G=	ENSP00000419481.1:p.Glu211=
ENST00000487825.5:c.634G=	ENSP00000418212.1:p.Glu212=
ENST00000491747.6:c.1009G=	ENSP00000420705.2:p.Glu337=
ENST00000493795.5:c.4177G=	ENSP00000418775.1:p.Glu1393=
ENST00000493919.5:c.868G=	ENSP00000418819.1:p.Glu290=
ENST00000586385.5:c.5-18492G=	ENSP00000465818.1:n.5-18492G=
ENST00000591534.5:c.-43-7922G=	ENSP00000467329.1:n.-43-7922G=
ENST00000591849.5:c.-98-32253G=	ENSP00000465347.1:n.-98-32253G=
ENST00000621897.1:n.212G=
NM_007294.3:c.4318G= , LRG_292t1:c.4318G=	NP_009225.1:p.Glu1440=
NM_007297.3:c.4177G=	NP_009228.2:p.Glu1393=
NM_007298.3:c.1009G=	NP_009229.2:p.Glu337=
NM_007299.3:c.1009G=	NP_009230.2:p.Glu337=
NM_007300.3:c.4318G=	NP_009231.2:p.Glu1440=
NR_027676.1:n.4454G=
NM_007294.4:c.4318G= MANE Select	NP_009225.1:p.Glu1440=
NM_007297.4:c.4177G=	NP_009228.2:p.Glu1393=
NM_007299.4:c.1009G=	NP_009230.2:p.Glu337=
NM_007300.4:c.4318G=	NP_009231.2:p.Glu1440=
NR_027676.2:n.4495G=