Canonical Allele Identifier: CA2260761979

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047652C= , CM000679.2:g.43047652C=	GRCh38
NC_000017.10:g.41199669C= , CM000679.1:g.41199669C=	GRCh37
NC_000017.9:g.38453195C=	NCBI36
NG_005905.2:g.170332G= , LRG_292:g.170332G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5455G=	ENSP00000417241.2:p.Gly1819=
ENST00000470026.6:c.5458G=	ENSP00000419274.2:p.Gly1820=
ENST00000473961.6:c.5332G=	ENSP00000420201.2:p.Gly1778=
ENST00000476777.6:c.5452G=	ENSP00000417554.2:p.Gly1818=
ENST00000477152.6:c.5380G=	ENSP00000419988.2:p.Gly1794=
ENST00000478531.6:c.2146G=	ENSP00000420412.2:p.Gly716=
ENST00000489037.2:c.5380G=	ENSP00000420781.2:p.Gly1794=
ENST00000493919.6:c.2008G=	ENSP00000418819.2:p.Gly670=
ENST00000494123.6:c.5458G=	ENSP00000419103.2:p.Gly1820=
ENST00000497488.2:c.4570G=	ENSP00000418986.2:p.Gly1524=
ENST00000618469.2:c.5458G=	ENSP00000478114.2:p.Gly1820=
ENST00000634433.2:c.5335G=	ENSP00000489431.2:p.Gly1779=
ENST00000644379.2:c.5524G=	ENSP00000496570.2:p.Gly1842=
ENST00000644555.2:c.2008G=	ENSP00000494614.2:p.Gly670=
ENST00000652672.2:c.5317G=	ENSP00000498906.2:p.Gly1773=
ENST00000484087.6:c.2020G=	ENSP00000419481.2:p.Gly674=
ENST00000700081.1:n.1341G=
ENST00000700082.1:n.822G=
ENST00000357654.9:c.5458G= MANE Select	ENSP00000350283.3:p.Gly1820=
ENST00000471181.7:c.5521G=	ENSP00000418960.2:p.Gly1841=
ENST00000644379.1:c.1845G=
ENST00000352993.7:c.2032G=	ENSP00000312236.5:p.Gly678=
ENST00000357654.7:c.5458G=	ENSP00000350283.3:p.Gly1820=
ENST00000461221.5:c.*5241G=	ENSP00000418548.1:n.*5241G=
ENST00000468300.5:c.2072G=	ENSP00000417148.1:p.Trp691=
ENST00000471181.6:c.5521G=	ENSP00000418960.2:p.Gly1841=
ENST00000491747.6:c.2146G=	ENSP00000420705.2:p.Gly716=
ENST00000493795.5:c.5317G=	ENSP00000418775.1:p.Gly1773=
ENST00000586385.5:c.388G=	ENSP00000465818.1:p.Gly130=
ENST00000591534.5:c.931G=	ENSP00000467329.1:p.Gly311=
ENST00000591849.5:c.157G=	ENSP00000465347.1:p.Gly53=
NM_007294.3:c.5458G= , LRG_292t1:c.5458G=	NP_009225.1:p.Gly1820=
NM_007297.3:c.5317G=	NP_009228.2:p.Gly1773=
NM_007298.3:c.2146G=	NP_009229.2:p.Gly716=
NM_007299.3:c.2072G=	NP_009230.2:p.Trp691=
NM_007300.3:c.5521G=	NP_009231.2:p.Gly1841=
NR_027676.1:n.5594G=
NM_007294.4:c.5458G= MANE Select	NP_009225.1:p.Gly1820=
NM_007297.4:c.5317G=	NP_009228.2:p.Gly1773=
NM_007299.4:c.2072G=	NP_009230.2:p.Trp691=
NM_007300.4:c.5521G=	NP_009231.2:p.Gly1841=
NR_027676.2:n.5635G=