Canonical Allele Identifier: CA001073
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54309
dbSNP Id: rs80356893

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093919G>A , CM000679.2:g.43093919G>A GRCh38
NC_000017.10:g.41245936G>A , CM000679.1:g.41245936G>A GRCh37
NC_000017.9:g.38499462G>A NCBI36
NG_005905.2:g.124065C>T , LRG_292:g.124065C>T

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1612C>T , LRG_292t1:c.1612C>T NP_009225.1:p.Gln538Ter
NM_007297.3:c.1471C>T VV NP_009228.2:p.Gln491Ter
NM_007298.3:c.787+825C>T VV NP_009229.2:p.=
NM_007299.3:c.787+825C>T VV NP_009230.2:p.=
NM_007300.3:c.1612C>T VV NP_009231.2:p.Gln538Ter
NR_027676.1:n.1748C>T
ENST00000352993.7:c.670+1927C>T ENSP00000312236.5:p.=
ENST00000354071.7:c.1612C>T ENSP00000326002.7:p.Gln538Ter
ENST00000357654.7:c.1612C>T ENSP00000350283.3:p.Gln538Ter
ENST00000412061.3:n.963C>T
ENST00000461221.5:c.*1395C>T ENSP00000418548.1:p.=
ENST00000468300.5:c.787+825C>T ENSP00000417148.1:p.=
ENST00000470026.5:c.1612C>T ENSP00000419274.1:p.Gln538Ter
ENST00000471181.6:c.1612C>T ENSP00000418960.2:p.Gln538Ter
ENST00000477152.5:c.1534C>T ENSP00000419988.1:p.Gln512Ter
ENST00000478531.5:c.784+825C>T ENSP00000420412.1:p.=
ENST00000484087.5:n.409+825C>T ENSP00000419481.1:p.=
ENST00000487825.5:n.412+825C>T ENSP00000418212.1:p.=
ENST00000491747.6:c.787+825C>T ENSP00000420705.2:p.=
ENST00000493795.5:c.1471C>T ENSP00000418775.1:p.Gln491Ter
ENST00000493919.5:c.646+825C>T ENSP00000418819.1:p.=
ENST00000586385.5:c.5-29968C>T ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19398C>T ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+31352C>T ENSP00000465347.1:p.=
ENST00000634433.1:c.1489C>T ENSP00000489431.1:p.Gln497Ter