Canonical Allele Identifier: CA2260772915

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071100A= , CM000679.2:g.43071100A=	GRCh38
NC_000017.10:g.41223117A= , CM000679.1:g.41223117A=	GRCh37
NC_000017.9:g.38476643A=	NCBI36
NG_005905.2:g.146884T= , LRG_292:g.146884T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4811T=	ENSP00000417241.2:p.Leu1604=
ENST00000470026.6:c.4814T=	ENSP00000419274.2:p.Leu1605=
ENST00000473961.6:c.4688T=	ENSP00000420201.2:p.Leu1563=
ENST00000476777.6:c.4808T=	ENSP00000417554.2:p.Leu1603=
ENST00000477152.6:c.4736T=	ENSP00000419988.2:p.Leu1579=
ENST00000478531.6:c.1502T=	ENSP00000420412.2:p.Leu501=
ENST00000489037.2:c.4736T=	ENSP00000420781.2:p.Leu1579=
ENST00000493919.6:c.1364T=	ENSP00000418819.2:p.Leu455=
ENST00000494123.6:c.4814T=	ENSP00000419103.2:p.Leu1605=
ENST00000497488.2:c.3926T=	ENSP00000418986.2:p.Leu1309=
ENST00000618469.2:c.4814T=	ENSP00000478114.2:p.Leu1605=
ENST00000634433.2:c.4691T=	ENSP00000489431.2:p.Leu1564=
ENST00000644379.2:c.4880T=	ENSP00000496570.2:p.Leu1627=
ENST00000644555.2:c.1364T=	ENSP00000494614.2:p.Leu455=
ENST00000652672.2:c.4673T=	ENSP00000498906.2:p.Leu1558=
ENST00000484087.6:c.1376T=	ENSP00000419481.2:p.Leu459=
ENST00000700182.1:c.1421T=	ENSP00000514849.1:p.Leu474=
ENST00000357654.9:c.4814T= MANE Select	ENSP00000350283.3:p.Leu1605=
ENST00000471181.7:c.4877T=	ENSP00000418960.2:p.Leu1626=
ENST00000644379.1:c.1201T=
ENST00000352993.7:c.1388T=	ENSP00000312236.5:p.Leu463=
ENST00000357654.7:c.4814T=	ENSP00000350283.3:p.Leu1605=
ENST00000461221.5:c.*4597T=	ENSP00000418548.1:n.*4597T=
ENST00000468300.5:c.1502T=	ENSP00000417148.1:p.Leu501=
ENST00000471181.6:c.4877T=	ENSP00000418960.2:p.Leu1626=
ENST00000478531.5:c.1502T=	ENSP00000420412.1:p.Leu501=
ENST00000484087.5:c.1127T=	ENSP00000419481.1:p.Leu376=
ENST00000491747.6:c.1502T=	ENSP00000420705.2:p.Leu501=
ENST00000493795.5:c.4673T=	ENSP00000418775.1:p.Leu1558=
ENST00000493919.5:c.1364T=	ENSP00000418819.1:p.Leu455=
ENST00000586385.5:c.5-7149T=	ENSP00000465818.1:n.5-7149T=
ENST00000591534.5:c.287T=	ENSP00000467329.1:p.Leu96=
ENST00000591849.5:c.-98-20910T=	ENSP00000465347.1:n.-98-20910T=
NM_007294.3:c.4814T= , LRG_292t1:c.4814T=	NP_009225.1:p.Leu1605=
NM_007297.3:c.4673T=	NP_009228.2:p.Leu1558=
NM_007298.3:c.1502T=	NP_009229.2:p.Leu501=
NM_007299.3:c.1502T=	NP_009230.2:p.Leu501=
NM_007300.3:c.4877T=	NP_009231.2:p.Leu1626=
NR_027676.1:n.4950T=
NM_007294.4:c.4814T= MANE Select	NP_009225.1:p.Leu1605=
NM_007297.4:c.4673T=	NP_009228.2:p.Leu1558=
NM_007299.4:c.1502T=	NP_009230.2:p.Leu501=
NM_007300.4:c.4877T=	NP_009231.2:p.Leu1626=
NR_027676.2:n.4991T=