Canonical Allele Identifier: CA2260762037

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047703C= , CM000679.2:g.43047703C=	GRCh38
NC_000017.10:g.41199720C= , CM000679.1:g.41199720C=	GRCh37
NC_000017.9:g.38453246C=	NCBI36
NG_005905.2:g.170281G= , LRG_292:g.170281G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5404G=	ENSP00000417241.2:p.Gly1802=
ENST00000470026.6:c.5407G=	ENSP00000419274.2:p.Gly1803=
ENST00000473961.6:c.5281G=	ENSP00000420201.2:p.Gly1761=
ENST00000476777.6:c.5401G=	ENSP00000417554.2:p.Gly1801=
ENST00000477152.6:c.5329G=	ENSP00000419988.2:p.Gly1777=
ENST00000478531.6:c.2095G=	ENSP00000420412.2:p.Gly699=
ENST00000489037.2:c.5329G=	ENSP00000420781.2:p.Gly1777=
ENST00000493919.6:c.1957G=	ENSP00000418819.2:p.Gly653=
ENST00000494123.6:c.5407G=	ENSP00000419103.2:p.Gly1803=
ENST00000497488.2:c.4519G=	ENSP00000418986.2:p.Gly1507=
ENST00000618469.2:c.5407G=	ENSP00000478114.2:p.Gly1803=
ENST00000634433.2:c.5284G=	ENSP00000489431.2:p.Gly1762=
ENST00000644379.2:c.5473G=	ENSP00000496570.2:p.Gly1825=
ENST00000644555.2:c.1957G=	ENSP00000494614.2:p.Gly653=
ENST00000652672.2:c.5266G=	ENSP00000498906.2:p.Gly1756=
ENST00000484087.6:c.1969G=	ENSP00000419481.2:p.Gly657=
ENST00000700081.1:n.1290G=
ENST00000700082.1:n.771G=
ENST00000357654.9:c.5407G= MANE Select	ENSP00000350283.3:p.Gly1803=
ENST00000471181.7:c.5470G=	ENSP00000418960.2:p.Gly1824=
ENST00000644379.1:c.1794G=
ENST00000352993.7:c.1981G=	ENSP00000312236.5:p.Gly661=
ENST00000357654.7:c.5407G=	ENSP00000350283.3:p.Gly1803=
ENST00000461221.5:c.*5190G=	ENSP00000418548.1:n.*5190G=
ENST00000468300.5:c.2021G=	ENSP00000417148.1:p.Gly674=
ENST00000471181.6:c.5470G=	ENSP00000418960.2:p.Gly1824=
ENST00000491747.6:c.2095G=	ENSP00000420705.2:p.Gly699=
ENST00000493795.5:c.5266G=	ENSP00000418775.1:p.Gly1756=
ENST00000586385.5:c.337G=	ENSP00000465818.1:p.Gly113=
ENST00000591534.5:c.880G=	ENSP00000467329.1:p.Gly294=
ENST00000591849.5:c.106G=	ENSP00000465347.1:p.Gly36=
NM_007294.3:c.5407G= , LRG_292t1:c.5407G=	NP_009225.1:p.Gly1803=
NM_007297.3:c.5266G=	NP_009228.2:p.Gly1756=
NM_007298.3:c.2095G=	NP_009229.2:p.Gly699=
NM_007299.3:c.2021G=	NP_009230.2:p.Gly674=
NM_007300.3:c.5470G=	NP_009231.2:p.Gly1824=
NR_027676.1:n.5543G=
NM_007294.4:c.5407G= MANE Select	NP_009225.1:p.Gly1803=
NM_007297.4:c.5266G=	NP_009228.2:p.Gly1756=
NM_007299.4:c.2021G=	NP_009230.2:p.Gly674=
NM_007300.4:c.5470G=	NP_009231.2:p.Gly1824=
NR_027676.2:n.5584G=