Canonical Allele Identifier: CA2260775543

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076595T= , CM000679.2:g.43076595T=	GRCh38
NC_000017.10:g.41228612T= , CM000679.1:g.41228612T=	GRCh37
NC_000017.9:g.38482138T=	NCBI36
NG_005905.2:g.141389A= , LRG_292:g.141389A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4374A=	ENSP00000417241.2:p.Lys1458=
ENST00000470026.6:c.4377A=	ENSP00000419274.2:p.Lys1459=
ENST00000473961.6:c.4251A=	ENSP00000420201.2:p.Lys1417=
ENST00000476777.6:c.4371A=	ENSP00000417554.2:p.Lys1457=
ENST00000477152.6:c.4299A=	ENSP00000419988.2:p.Lys1433=
ENST00000478531.6:c.1065A=	ENSP00000420412.2:p.Lys355=
ENST00000489037.2:c.4299A=	ENSP00000420781.2:p.Lys1433=
ENST00000493919.6:c.927A=	ENSP00000418819.2:p.Lys309=
ENST00000494123.6:c.4377A=	ENSP00000419103.2:p.Lys1459=
ENST00000497488.2:c.3489A=	ENSP00000418986.2:p.Lys1163=
ENST00000618469.2:c.4377A=	ENSP00000478114.2:p.Lys1459=
ENST00000634433.2:c.4254A=	ENSP00000489431.2:p.Lys1418=
ENST00000644379.2:c.4443A=	ENSP00000496570.2:p.Lys1481=
ENST00000644555.2:c.927A=	ENSP00000494614.2:p.Lys309=
ENST00000652672.2:c.4236A=	ENSP00000498906.2:p.Lys1412=
ENST00000484087.6:c.939A=	ENSP00000419481.2:p.Lys313=
ENST00000700182.1:c.984A=	ENSP00000514849.1:p.Lys328=
ENST00000357654.9:c.4377A= MANE Select	ENSP00000350283.3:p.Lys1459=
ENST00000471181.7:c.4440A=	ENSP00000418960.2:p.Lys1480=
ENST00000644379.1:c.764A=
ENST00000352993.7:c.951A=	ENSP00000312236.5:p.Lys317=
ENST00000357654.7:c.4377A=	ENSP00000350283.3:p.Lys1459=
ENST00000461221.5:c.*4160A=	ENSP00000418548.1:n.*4160A=
ENST00000461574.1:c.668A=
ENST00000468300.5:c.1065A=	ENSP00000417148.1:p.Lys355=
ENST00000471181.6:c.4440A=	ENSP00000418960.2:p.Lys1480=
ENST00000478531.5:c.1065A=	ENSP00000420412.1:p.Lys355=
ENST00000484087.5:c.690A=	ENSP00000419481.1:p.Lys230=
ENST00000487825.5:c.693A=	ENSP00000418212.1:p.Lys231=
ENST00000491747.6:c.1065A=	ENSP00000420705.2:p.Lys355=
ENST00000493795.5:c.4236A=	ENSP00000418775.1:p.Lys1412=
ENST00000493919.5:c.927A=	ENSP00000418819.1:p.Lys309=
ENST00000586385.5:c.5-12644A=	ENSP00000465818.1:n.5-12644A=
ENST00000591534.5:c.-43-2074A=	ENSP00000467329.1:n.-43-2074A=
ENST00000591849.5:c.-98-26405A=	ENSP00000465347.1:n.-98-26405A=
ENST00000621897.1:n.268A=
NM_007294.3:c.4377A= , LRG_292t1:c.4377A=	NP_009225.1:p.Lys1459=
NM_007297.3:c.4236A=	NP_009228.2:p.Lys1412=
NM_007298.3:c.1065A=	NP_009229.2:p.Lys355=
NM_007299.3:c.1065A=	NP_009230.2:p.Lys355=
NM_007300.3:c.4440A=	NP_009231.2:p.Lys1480=
NR_027676.1:n.4513A=
NM_007294.4:c.4377A= MANE Select	NP_009225.1:p.Lys1459=
NM_007297.4:c.4236A=	NP_009228.2:p.Lys1412=
NM_007299.4:c.1065A=	NP_009230.2:p.Lys355=
NM_007300.4:c.4440A=	NP_009231.2:p.Lys1480=
NR_027676.2:n.4554A=