Canonical Allele Identifier: CA2260781940
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091462C= , CM000679.2:g.43091462C= GRCh38
NC_000017.10:g.41243479C= , CM000679.1:g.41243479C= GRCh37
NC_000017.9:g.38497005C= NCBI36
NG_005905.2:g.126522G= , LRG_292:g.126522G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4133G=
ENST00000461574.2:c.4069G= ENSP00000417241.2:p.Glu1357=
ENST00000470026.6:c.4069G= ENSP00000419274.2:p.Glu1357=
ENST00000473961.6:c.3943G= ENSP00000420201.2:p.Glu1315=
ENST00000476777.6:c.4066G= ENSP00000417554.2:p.Glu1356=
ENST00000477152.6:c.3991G= ENSP00000419988.2:p.Glu1331=
ENST00000478531.6:c.785-430G= ENSP00000420412.2:n.785-430G=
ENST00000489037.2:c.3991G= ENSP00000420781.2:p.Glu1331=
ENST00000493919.6:c.647-430G= ENSP00000418819.2:n.647-430G=
ENST00000494123.6:c.4069G= ENSP00000419103.2:p.Glu1357=
ENST00000497488.2:c.3181G= ENSP00000418986.2:p.Glu1061=
ENST00000618469.2:c.4069G= ENSP00000478114.2:p.Glu1357=
ENST00000634433.2:c.3946G= ENSP00000489431.2:p.Glu1316=
ENST00000644379.2:c.4069G= ENSP00000496570.2:p.Glu1357=
ENST00000644555.2:c.647-430G= ENSP00000494614.2:n.647-430G=
ENST00000652672.2:c.3928G= ENSP00000498906.2:p.Glu1310=
ENST00000484087.6:c.665-430G= ENSP00000419481.2:n.665-430G=
ENST00000700182.1:c.707-430G= ENSP00000514849.1:n.707-430G=
ENST00000357654.9:c.4069G= MANE Select ENSP00000350283.3:p.Glu1357=
ENST00000471181.7:c.4069G= ENSP00000418960.2:p.Glu1357=
ENST00000644379.1:c.390G=
ENST00000352993.7:c.671-430G= ENSP00000312236.5:n.671-430G=
ENST00000354071.7:c.4069G= ENSP00000326002.7:p.Glu1357=
ENST00000357654.7:c.4069G= ENSP00000350283.3:p.Glu1357=
ENST00000461221.5:c.*3852G= ENSP00000418548.1:n.*3852G=
ENST00000461574.1:c.363G=
ENST00000468300.5:c.788-430G= ENSP00000417148.1:n.788-430G=
ENST00000471181.6:c.4069G= ENSP00000418960.2:p.Glu1357=
ENST00000478531.5:c.785-430G= ENSP00000420412.1:n.785-430G=
ENST00000484087.5:c.410-430G= ENSP00000419481.1:n.410-430G=
ENST00000487825.5:c.413-430G= ENSP00000418212.1:n.413-430G=
ENST00000491747.6:c.788-430G= ENSP00000420705.2:n.788-430G=
ENST00000493795.5:c.3928G= ENSP00000418775.1:p.Glu1310=
ENST00000493919.5:c.647-430G= ENSP00000418819.1:n.647-430G=
ENST00000586385.5:c.5-27511G= ENSP00000465818.1:n.5-27511G=
ENST00000591534.5:c.-43-16941G= ENSP00000467329.1:n.-43-16941G=
ENST00000591849.5:c.-99+33809G= ENSP00000465347.1:n.-99+33809G=
NM_007294.3:c.4069G= , LRG_292t1:c.4069G= NP_009225.1:p.Glu1357=
NM_007297.3:c.3928G= NP_009228.2:p.Glu1310=
NM_007298.3:c.788-430G= NP_009229.2:n.788-430G=
NM_007299.3:c.788-430G= NP_009230.2:n.788-430G=
NM_007300.3:c.4069G= NP_009231.2:p.Glu1357=
NR_027676.1:n.4205G=
NM_007294.4:c.4069G= MANE Select NP_009225.1:p.Glu1357=
NM_007297.4:c.3928G= NP_009228.2:p.Glu1310=
NM_007299.4:c.788-430G= NP_009230.2:n.788-430G=
NM_007300.4:c.4069G= NP_009231.2:p.Glu1357=
NR_027676.2:n.4246G=