Canonical Allele Identifier: CA001182
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17661
dbSNP Id: rs28897672

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43106487A>C , CM000679.2:g.43106487A>C GRCh38
NC_000017.10:g.41258504A>C , CM000679.1:g.41258504A>C GRCh37
NC_000017.9:g.38512030A>C NCBI36
NG_005905.2:g.111497T>G , LRG_292:g.111497T>G

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.181T>G , LRG_292t1:c.181T>G NP_009225.1:p.Cys61Gly
NM_007297.3:c.40T>G VV NP_009228.2:p.Cys14Gly
NM_007298.3:c.181T>G VV NP_009229.2:p.Cys61Gly
NM_007299.3:c.181T>G VV NP_009230.2:p.Cys61Gly
NM_007300.3:c.181T>G VV NP_009231.2:p.Cys61Gly
NR_027676.1:n.342T>G
ENST00000352993.7:c.181T>G ENSP00000312236.5:p.Cys61Gly
ENST00000354071.7:c.181T>G ENSP00000326002.7:p.Cys61Gly
ENST00000357654.7:c.181T>G ENSP00000350283.3:p.Cys61Gly
ENST00000461221.5:c.181T>G ENSP00000418548.1:p.Cys61Gly
ENST00000461798.5:c.181T>G ENSP00000417988.1:p.Cys61Gly
ENST00000468300.5:c.181T>G ENSP00000417148.1:p.Cys61Gly
ENST00000470026.5:c.181T>G ENSP00000419274.1:p.Cys61Gly
ENST00000471181.6:c.181T>G ENSP00000418960.2:p.Cys61Gly
ENST00000476777.5:c.181T>G ENSP00000417554.1:p.Cys61Gly
ENST00000477152.5:c.135-1531T>G ENSP00000419988.1:p.=
ENST00000478531.5:c.181T>G ENSP00000420412.1:p.Cys61Gly
ENST00000489037.1:c.135-1531T>G ENSP00000420781.1:p.=
ENST00000491747.6:c.181T>G ENSP00000420705.2:p.Cys61Gly
ENST00000492859.5:c.*117T>G ENSP00000420253.1:p.=
ENST00000493795.5:c.40T>G ENSP00000418775.1:p.Cys14Gly
ENST00000493919.5:c.40T>G ENSP00000418819.1:p.Cys14Gly
ENST00000494123.5:c.181T>G ENSP00000419103.1:p.Cys61Gly
ENST00000497488.1:c.-218-11627T>G ENSP00000418986.1:p.=
ENST00000586385.5:c.4+18695T>G ENSP00000465818.1:p.=
ENST00000591534.5:c.-44+18784T>G ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+18784T>G ENSP00000465347.1:p.=
ENST00000634433.1:c.181T>G ENSP00000489431.1:p.Cys61Gly