Canonical Allele Identifier: CA002212
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41817
dbSNP Id: rs2227945
COSMIC: COSM35894

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092113T>C , CM000679.2:g.43092113T>C GRCh38
NC_000017.10:g.41244130T>C , CM000679.1:g.41244130T>C GRCh37
NC_000017.9:g.38497656T>C NCBI36
NG_005905.2:g.125871A>G , LRG_292:g.125871A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.3418A>G MANE Select ENSP00000350283.3:p.Ser1140Gly
ENST00000471181.7:c.3418A>G ENSP00000418960.2:p.Ser1140Gly
ENST00000352993.7:c.671-1081A>G ENSP00000312236.5:p.=
ENST00000354071.7:c.3418A>G ENSP00000326002.7:p.Ser1140Gly
ENST00000357654.7:c.3418A>G ENSP00000350283.3:p.Ser1140Gly
ENST00000461221.5:c.*3201A>G ENSP00000418548.1:p.=
ENST00000468300.5:c.788-1081A>G ENSP00000417148.1:p.=
ENST00000471181.6:c.3418A>G ENSP00000418960.2:p.Ser1140Gly
ENST00000478531.5:c.785-1081A>G ENSP00000420412.1:p.=
ENST00000484087.5:n.410-1081A>G ENSP00000419481.1:p.=
ENST00000487825.5:n.413-1081A>G ENSP00000418212.1:p.=
ENST00000491747.6:c.788-1081A>G ENSP00000420705.2:p.=
ENST00000493795.5:c.3277A>G ENSP00000418775.1:p.Ser1093Gly
ENST00000493919.5:c.647-1081A>G ENSP00000418819.1:p.=
ENST00000586385.5:c.5-28162A>G ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17592A>G ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33158A>G ENSP00000465347.1:p.=
NM_007294.3:c.3418A>G , LRG_292t1:c.3418A>G NP_009225.1:p.Ser1140Gly
NM_007297.3:c.3277A>G NP_009228.2:p.Ser1093Gly
NM_007298.3:c.788-1081A>G NP_009229.2:p.=
NM_007299.3:c.788-1081A>G NP_009230.2:p.=
NM_007300.3:c.3418A>G NP_009231.2:p.Ser1140Gly
NR_027676.1:n.3554A>G
NM_007294.4:c.3418A>G MANE Select NP_009225.1:p.Ser1140Gly
NM_007297.4:c.3277A>G NP_009228.2:p.Ser1093Gly
NM_007299.4:c.788-1081A>G NP_009230.2:p.=
NM_007300.4:c.3418A>G NP_009231.2:p.Ser1140Gly
NR_027676.2:n.3595A>G