Canonical Allele Identifier: CA2260762036

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047702C= , CM000679.2:g.43047702C=	GRCh38
NC_000017.10:g.41199719C= , CM000679.1:g.41199719C=	GRCh37
NC_000017.9:g.38453245C=	NCBI36
NG_005905.2:g.170282G= , LRG_292:g.170282G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5405G=	ENSP00000417241.2:p.Gly1802=
ENST00000470026.6:c.5408G=	ENSP00000419274.2:p.Gly1803=
ENST00000473961.6:c.5282G=	ENSP00000420201.2:p.Gly1761=
ENST00000476777.6:c.5402G=	ENSP00000417554.2:p.Gly1801=
ENST00000477152.6:c.5330G=	ENSP00000419988.2:p.Gly1777=
ENST00000478531.6:c.2096G=	ENSP00000420412.2:p.Gly699=
ENST00000489037.2:c.5330G=	ENSP00000420781.2:p.Gly1777=
ENST00000493919.6:c.1958G=	ENSP00000418819.2:p.Gly653=
ENST00000494123.6:c.5408G=	ENSP00000419103.2:p.Gly1803=
ENST00000497488.2:c.4520G=	ENSP00000418986.2:p.Gly1507=
ENST00000618469.2:c.5408G=	ENSP00000478114.2:p.Gly1803=
ENST00000634433.2:c.5285G=	ENSP00000489431.2:p.Gly1762=
ENST00000644379.2:c.5474G=	ENSP00000496570.2:p.Gly1825=
ENST00000644555.2:c.1958G=	ENSP00000494614.2:p.Gly653=
ENST00000652672.2:c.5267G=	ENSP00000498906.2:p.Gly1756=
ENST00000484087.6:c.1970G=	ENSP00000419481.2:p.Gly657=
ENST00000700081.1:n.1291G=
ENST00000700082.1:n.772G=
ENST00000357654.9:c.5408G= MANE Select	ENSP00000350283.3:p.Gly1803=
ENST00000471181.7:c.5471G=	ENSP00000418960.2:p.Gly1824=
ENST00000644379.1:c.1795G=
ENST00000352993.7:c.1982G=	ENSP00000312236.5:p.Gly661=
ENST00000357654.7:c.5408G=	ENSP00000350283.3:p.Gly1803=
ENST00000461221.5:c.*5191G=	ENSP00000418548.1:n.*5191G=
ENST00000468300.5:c.2022G=	ENSP00000417148.1:p.Gly674=
ENST00000471181.6:c.5471G=	ENSP00000418960.2:p.Gly1824=
ENST00000491747.6:c.2096G=	ENSP00000420705.2:p.Gly699=
ENST00000493795.5:c.5267G=	ENSP00000418775.1:p.Gly1756=
ENST00000586385.5:c.338G=	ENSP00000465818.1:p.Gly113=
ENST00000591534.5:c.881G=	ENSP00000467329.1:p.Gly294=
ENST00000591849.5:c.107G=	ENSP00000465347.1:p.Gly36=
NM_007294.3:c.5408G= , LRG_292t1:c.5408G=	NP_009225.1:p.Gly1803=
NM_007297.3:c.5267G=	NP_009228.2:p.Gly1756=
NM_007298.3:c.2096G=	NP_009229.2:p.Gly699=
NM_007299.3:c.2022G=	NP_009230.2:p.Gly674=
NM_007300.3:c.5471G=	NP_009231.2:p.Gly1824=
NR_027676.1:n.5544G=
NM_007294.4:c.5408G= MANE Select	NP_009225.1:p.Gly1803=
NM_007297.4:c.5267G=	NP_009228.2:p.Gly1756=
NM_007299.4:c.2022G=	NP_009230.2:p.Gly674=
NM_007300.4:c.5471G=	NP_009231.2:p.Gly1824=
NR_027676.2:n.5585G=