Canonical Allele Identifier: CA000733
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141466
ClinVar RCV Id: RCV000130000
dbSNP Id: rs587781769

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094434T>A , CM000679.2:g.43094434T>A GRCh38
NC_000017.10:g.41246451T>A , CM000679.1:g.41246451T>A GRCh37
NC_000017.9:g.38499977T>A NCBI36
NG_005905.2:g.123550A>T , LRG_292:g.123550A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352993.7:c.670+1412A>T ENSP00000312236.5:p.=
ENST00000354071.7:c.1097A>T ENSP00000326002.7:p.Asp366Val
ENST00000357654.7:c.1097A>T ENSP00000350283.3:p.Asp366Val
ENST00000461221.5:c.*880A>T ENSP00000418548.1:p.=
ENST00000468300.5:c.787+310A>T ENSP00000417148.1:p.=
ENST00000470026.5:c.1097A>T ENSP00000419274.1:p.Asp366Val
ENST00000471181.6:c.1097A>T ENSP00000418960.2:p.Asp366Val
ENST00000477152.5:c.1019A>T ENSP00000419988.1:p.Asp340Val
ENST00000478531.5:c.784+310A>T ENSP00000420412.1:p.=
ENST00000484087.5:n.409+310A>T ENSP00000419481.1:p.=
ENST00000487825.5:n.412+310A>T ENSP00000418212.1:p.=
ENST00000491747.6:c.787+310A>T ENSP00000420705.2:p.=
ENST00000492859.5:c.*1033A>T ENSP00000420253.1:p.=
ENST00000493795.5:c.956A>T ENSP00000418775.1:p.Asp319Val
ENST00000493919.5:c.646+310A>T ENSP00000418819.1:p.=
ENST00000494123.5:c.1097A>T ENSP00000419103.1:p.Asp366Val
ENST00000497488.1:c.209A>T ENSP00000418986.1:p.Asp70Val
ENST00000586385.5:c.5-30483A>T ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19913A>T ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30837A>T ENSP00000465347.1:p.=
ENST00000634433.1:c.974A>T ENSP00000489431.1:p.Asp325Val
NM_007294.3:c.1097A>T , LRG_292t1:c.1097A>T NP_009225.1:p.Asp366Val
NM_007297.3:c.956A>T NP_009228.2:p.Asp319Val
NM_007298.3:c.787+310A>T NP_009229.2:p.=
NM_007299.3:c.787+310A>T NP_009230.2:p.=
NM_007300.3:c.1097A>T NP_009231.2:p.Asp366Val
NM_007294.4:c.1097A>T MANE Select NP_009225.1:p.Asp366Val
NM_007297.4:c.956A>T NP_009228.2:p.Asp319Val
NM_007299.4:c.787+310A>T NP_009230.2:p.=
NM_007300.4:c.1097A>T NP_009231.2:p.Asp366Val