Canonical Allele Identifier: CA003932
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55731
dbSNP Id: rs80357199

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094692G>C , CM000679.2:g.43094692G>C GRCh38
NC_000017.10:g.41246709G>C , CM000679.1:g.41246709G>C GRCh37
NC_000017.9:g.38500235G>C NCBI36
NG_005905.2:g.123292C>G , LRG_292:g.123292C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.839C>G MANE Select ENSP00000350283.3:p.Ala280Gly
ENST00000471181.7:c.839C>G ENSP00000418960.2:p.Ala280Gly
ENST00000642945.1:c.*713C>G ENSP00000495897.1:p.=
ENST00000652672.1:c.698C>G ENSP00000498906.1:p.Ala233Gly
ENST00000352993.7:c.670+1154C>G ENSP00000312236.5:p.=
ENST00000354071.7:c.839C>G ENSP00000326002.7:p.Ala280Gly
ENST00000357654.7:c.839C>G ENSP00000350283.3:p.Ala280Gly
ENST00000412061.3:n.190C>G
ENST00000461221.5:c.*622C>G ENSP00000418548.1:p.=
ENST00000468300.5:c.787+52C>G ENSP00000417148.1:p.=
ENST00000470026.5:c.839C>G ENSP00000419274.1:p.Ala280Gly
ENST00000471181.6:c.839C>G ENSP00000418960.2:p.Ala280Gly
ENST00000473961.5:n.436C>G
ENST00000477152.5:c.761C>G ENSP00000419988.1:p.Ala254Gly
ENST00000478531.5:c.784+52C>G ENSP00000420412.1:p.=
ENST00000484087.5:n.409+52C>G ENSP00000419481.1:p.=
ENST00000487825.5:n.412+52C>G ENSP00000418212.1:p.=
ENST00000491747.6:c.787+52C>G ENSP00000420705.2:p.=
ENST00000492859.5:c.*775C>G ENSP00000420253.1:p.=
ENST00000493795.5:c.698C>G ENSP00000418775.1:p.Ala233Gly
ENST00000493919.5:c.646+52C>G ENSP00000418819.1:p.=
ENST00000494123.5:c.839C>G ENSP00000419103.1:p.Ala280Gly
ENST00000497488.1:c.-50C>G ENSP00000418986.1:p.=
ENST00000586385.5:c.4+30490C>G ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-20171C>G ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30579C>G ENSP00000465347.1:p.=
ENST00000634433.1:c.716C>G ENSP00000489431.1:p.Ala239Gly
NM_007294.3:c.839C>G , LRG_292t1:c.839C>G NP_009225.1:p.Ala280Gly
NM_007297.3:c.698C>G NP_009228.2:p.Ala233Gly
NM_007298.3:c.787+52C>G NP_009229.2:p.=
NM_007299.3:c.787+52C>G NP_009230.2:p.=
NM_007300.3:c.839C>G NP_009231.2:p.Ala280Gly
NR_027676.1:n.975C>G
NM_007294.4:c.839C>G MANE Select NP_009225.1:p.Ala280Gly
NM_007297.4:c.698C>G NP_009228.2:p.Ala233Gly
NM_007299.4:c.787+52C>G NP_009230.2:p.=
NM_007300.4:c.839C>G NP_009231.2:p.Ala280Gly
NR_027676.2:n.1016C>G