Canonical Allele Identifier: CA2260778067

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082548T= , CM000679.2:g.43082548T=	GRCh38
NC_000017.10:g.41234565T= , CM000679.1:g.41234565T=	GRCh37
NC_000017.9:g.38488091T=	NCBI36
NG_005905.2:g.135436A= , LRG_292:g.135436A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4213A=	ENSP00000417241.2:p.Ile1405=
ENST00000470026.6:c.4213A=	ENSP00000419274.2:p.Ile1405=
ENST00000473961.6:c.4087A=	ENSP00000420201.2:p.Ile1363=
ENST00000476777.6:c.4207A=	ENSP00000417554.2:p.Ile1403=
ENST00000477152.6:c.4135A=	ENSP00000419988.2:p.Ile1379=
ENST00000478531.6:c.901A=	ENSP00000420412.2:p.Ile301=
ENST00000489037.2:c.4135A=	ENSP00000420781.2:p.Ile1379=
ENST00000493919.6:c.763A=	ENSP00000418819.2:p.Ile255=
ENST00000494123.6:c.4213A=	ENSP00000419103.2:p.Ile1405=
ENST00000497488.2:c.3325A=	ENSP00000418986.2:p.Ile1109=
ENST00000618469.2:c.4213A=	ENSP00000478114.2:p.Ile1405=
ENST00000634433.2:c.4090A=	ENSP00000489431.2:p.Ile1364=
ENST00000644379.2:c.4213A=	ENSP00000496570.2:p.Ile1405=
ENST00000644555.2:c.763A=	ENSP00000494614.2:p.Ile255=
ENST00000652672.2:c.4072A=	ENSP00000498906.2:p.Ile1358=
ENST00000484087.6:c.778A=	ENSP00000419481.2:p.Ile260=
ENST00000700182.1:c.823A=	ENSP00000514849.1:p.Ile275=
ENST00000357654.9:c.4213A= MANE Select	ENSP00000350283.3:p.Ile1405=
ENST00000471181.7:c.4213A=	ENSP00000418960.2:p.Ile1405=
ENST00000644379.1:c.534A=
ENST00000352993.7:c.787A=	ENSP00000312236.5:p.Ile263=
ENST00000357654.7:c.4213A=	ENSP00000350283.3:p.Ile1405=
ENST00000461221.5:c.*3996A=	ENSP00000418548.1:n.*3996A=
ENST00000461574.1:c.507A=
ENST00000468300.5:c.904A=	ENSP00000417148.1:p.Ile302=
ENST00000471181.6:c.4213A=	ENSP00000418960.2:p.Ile1405=
ENST00000478531.5:c.901A=	ENSP00000420412.1:p.Ile301=
ENST00000484087.5:c.526A=	ENSP00000419481.1:p.Ile176=
ENST00000487825.5:c.529A=	ENSP00000418212.1:p.Ile177=
ENST00000491747.6:c.904A=	ENSP00000420705.2:p.Ile302=
ENST00000493795.5:c.4072A=	ENSP00000418775.1:p.Ile1358=
ENST00000493919.5:c.763A=	ENSP00000418819.1:p.Ile255=
ENST00000586385.5:c.5-18597A=	ENSP00000465818.1:n.5-18597A=
ENST00000591534.5:c.-43-8027A=	ENSP00000467329.1:n.-43-8027A=
ENST00000591849.5:c.-98-32358A=	ENSP00000465347.1:n.-98-32358A=
ENST00000621897.1:n.107A=
NM_007294.3:c.4213A= , LRG_292t1:c.4213A=	NP_009225.1:p.Ile1405=
NM_007297.3:c.4072A=	NP_009228.2:p.Ile1358=
NM_007298.3:c.904A=	NP_009229.2:p.Ile302=
NM_007299.3:c.904A=	NP_009230.2:p.Ile302=
NM_007300.3:c.4213A=	NP_009231.2:p.Ile1405=
NR_027676.1:n.4349A=
NM_007294.4:c.4213A= MANE Select	NP_009225.1:p.Ile1405=
NM_007297.4:c.4072A=	NP_009228.2:p.Ile1358=
NM_007299.4:c.904A=	NP_009230.2:p.Ile302=
NM_007300.4:c.4213A=	NP_009231.2:p.Ile1405=
NR_027676.2:n.4390A=