Canonical Allele Identifier: CA000938
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54240
dbSNP Id: rs80356964

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094135G>C , CM000679.2:g.43094135G>C GRCh38
NC_000017.10:g.41246152G>C , CM000679.1:g.41246152G>C GRCh37
NC_000017.9:g.38499678G>C NCBI36
NG_005905.2:g.123849C>G , LRG_292:g.123849C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1460C>G
ENST00000461574.2:c.1396C>G ENSP00000417241.2:p.Arg466Gly
ENST00000470026.6:c.1396C>G ENSP00000419274.2:p.Arg466Gly
ENST00000473961.6:c.1270C>G ENSP00000420201.2:p.Arg424Gly
ENST00000476777.6:c.1393C>G ENSP00000417554.2:p.Arg465Gly
ENST00000477152.6:c.1318C>G ENSP00000419988.2:p.Arg440Gly
ENST00000478531.6:c.784+609C>G ENSP00000420412.2:n.784+609C>G
ENST00000489037.2:c.1318C>G ENSP00000420781.2:p.Arg440Gly
ENST00000493919.6:c.646+609C>G ENSP00000418819.2:n.646+609C>G
ENST00000494123.6:c.1396C>G ENSP00000419103.2:p.Arg466Gly
ENST00000497488.2:c.508C>G ENSP00000418986.2:p.Arg170Gly
ENST00000618469.2:c.1396C>G ENSP00000478114.2:p.Arg466Gly
ENST00000634433.2:c.1273C>G ENSP00000489431.2:p.Arg425Gly
ENST00000644379.2:c.1396C>G ENSP00000496570.2:p.Arg466Gly
ENST00000644555.2:c.646+609C>G ENSP00000494614.2:n.646+609C>G
ENST00000652672.2:c.1255C>G ENSP00000498906.2:p.Arg419Gly
ENST00000484087.6:c.664+609C>G ENSP00000419481.2:n.664+609C>G
ENST00000700182.1:c.706+609C>G ENSP00000514849.1:n.706+609C>G
ENST00000700183.1:c.*1404C>G ENSP00000514850.1:n.*1404C>G
ENST00000357654.9:c.1396C>G MANE Select ENSP00000350283.3:p.Arg466Gly
ENST00000471181.7:c.1396C>G ENSP00000418960.2:p.Arg466Gly
ENST00000652672.1:c.1255C>G ENSP00000498906.1:p.Arg419Gly
ENST00000352993.7:c.670+1711C>G ENSP00000312236.5:n.670+1711C>G
ENST00000354071.7:c.1396C>G ENSP00000326002.7:p.Arg466Gly
ENST00000357654.7:c.1396C>G ENSP00000350283.3:p.Arg466Gly
ENST00000412061.3:c.747C>G
ENST00000461221.5:c.*1179C>G ENSP00000418548.1:n.*1179C>G
ENST00000468300.5:c.787+609C>G ENSP00000417148.1:n.787+609C>G
ENST00000470026.5:c.1396C>G ENSP00000419274.1:p.Arg466Gly
ENST00000471181.6:c.1396C>G ENSP00000418960.2:p.Arg466Gly
ENST00000477152.5:c.1318C>G ENSP00000419988.1:p.Arg440Gly
ENST00000478531.5:c.784+609C>G ENSP00000420412.1:n.784+609C>G
ENST00000484087.5:c.409+609C>G ENSP00000419481.1:n.409+609C>G
ENST00000487825.5:c.412+609C>G ENSP00000418212.1:n.412+609C>G
ENST00000491747.6:c.787+609C>G ENSP00000420705.2:n.787+609C>G
ENST00000492859.5:c.*1332C>G ENSP00000420253.1:n.*1332C>G
ENST00000493795.5:c.1255C>G ENSP00000418775.1:p.Arg419Gly
ENST00000493919.5:c.646+609C>G ENSP00000418819.1:n.646+609C>G
ENST00000494123.5:c.1396C>G ENSP00000419103.1:p.Arg466Gly
ENST00000497488.1:c.508C>G ENSP00000418986.1:p.Arg170Gly
ENST00000586385.5:c.5-30184C>G ENSP00000465818.1:n.5-30184C>G
ENST00000591534.5:c.-43-19614C>G ENSP00000467329.1:n.-43-19614C>G
ENST00000591849.5:c.-99+31136C>G ENSP00000465347.1:n.-99+31136C>G
ENST00000634433.1:c.1273C>G ENSP00000489431.1:p.Arg425Gly
NM_007294.3:c.1396C>G , LRG_292t1:c.1396C>G NP_009225.1:p.Arg466Gly
NM_007297.3:c.1255C>G NP_009228.2:p.Arg419Gly
NM_007298.3:c.787+609C>G NP_009229.2:n.787+609C>G
NM_007299.3:c.787+609C>G NP_009230.2:n.787+609C>G
NM_007300.3:c.1396C>G NP_009231.2:p.Arg466Gly
NR_027676.1:n.1532C>G
NM_007294.4:c.1396C>G MANE Select NP_009225.1:p.Arg466Gly
NM_007297.4:c.1255C>G NP_009228.2:p.Arg419Gly
NM_007299.4:c.787+609C>G NP_009230.2:n.787+609C>G
NM_007300.4:c.1396C>G NP_009231.2:p.Arg466Gly
NR_027676.2:n.1573C>G