Canonical Allele Identifier: CA002754
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186786
dbSNP Id: rs541512953

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082464T>C , CM000679.2:g.43082464T>C GRCh38
NC_000017.10:g.41234481T>C , CM000679.1:g.41234481T>C GRCh37
NC_000017.9:g.38488007T>C NCBI36
NG_005905.2:g.135520A>G , LRG_292:g.135520A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4297A>G ENSP00000417241.2:p.Ile1433Val
ENST00000470026.6:c.4297A>G ENSP00000419274.2:p.Ile1433Val
ENST00000473961.6:c.4171A>G ENSP00000420201.2:p.Ile1391Val
ENST00000476777.6:c.4291A>G ENSP00000417554.2:p.Ile1431Val
ENST00000477152.6:c.4219A>G ENSP00000419988.2:p.Ile1407Val
ENST00000478531.6:c.985A>G ENSP00000420412.2:p.Ile329Val
ENST00000489037.2:c.4219A>G ENSP00000420781.2:p.Ile1407Val
ENST00000493919.6:c.847A>G ENSP00000418819.2:p.Ile283Val
ENST00000494123.6:c.4297A>G ENSP00000419103.2:p.Ile1433Val
ENST00000497488.2:c.3409A>G ENSP00000418986.2:p.Ile1137Val
ENST00000618469.2:c.4297A>G ENSP00000478114.2:p.Ile1433Val
ENST00000634433.2:c.4174A>G ENSP00000489431.2:p.Ile1392Val
ENST00000644379.2:c.4297A>G ENSP00000496570.2:p.Ile1433Val
ENST00000644555.2:c.847A>G ENSP00000494614.2:p.Ile283Val
ENST00000652672.2:c.4156A>G ENSP00000498906.2:p.Ile1386Val
ENST00000484087.6:c.862A>G ENSP00000419481.2:p.Ile288Val
ENST00000700182.1:c.907A>G ENSP00000514849.1:p.Ile303Val
ENST00000357654.9:c.4297A>G MANE Select ENSP00000350283.3:p.Ile1433Val
ENST00000471181.7:c.4297A>G ENSP00000418960.2:p.Ile1433Val
ENST00000644379.1:c.618A>G
ENST00000352993.7:c.871A>G ENSP00000312236.5:p.Ile291Val
ENST00000357654.7:c.4297A>G ENSP00000350283.3:p.Ile1433Val
ENST00000461221.5:c.*4080A>G ENSP00000418548.1:n.*4080A>G
ENST00000461574.1:c.591A>G
ENST00000468300.5:c.988A>G ENSP00000417148.1:p.Ile330Val
ENST00000471181.6:c.4297A>G ENSP00000418960.2:p.Ile1433Val
ENST00000478531.5:c.985A>G ENSP00000420412.1:p.Ile329Val
ENST00000484087.5:c.610A>G ENSP00000419481.1:p.Ile204Val
ENST00000487825.5:c.613A>G ENSP00000418212.1:p.Ile205Val
ENST00000491747.6:c.988A>G ENSP00000420705.2:p.Ile330Val
ENST00000493795.5:c.4156A>G ENSP00000418775.1:p.Ile1386Val
ENST00000493919.5:c.847A>G ENSP00000418819.1:p.Ile283Val
ENST00000586385.5:c.5-18513A>G ENSP00000465818.1:n.5-18513A>G
ENST00000591534.5:c.-43-7943A>G ENSP00000467329.1:n.-43-7943A>G
ENST00000591849.5:c.-98-32274A>G ENSP00000465347.1:n.-98-32274A>G
ENST00000621897.1:n.191A>G
NM_007294.3:c.4297A>G , LRG_292t1:c.4297A>G NP_009225.1:p.Ile1433Val
NM_007297.3:c.4156A>G NP_009228.2:p.Ile1386Val
NM_007298.3:c.988A>G NP_009229.2:p.Ile330Val
NM_007299.3:c.988A>G NP_009230.2:p.Ile330Val
NM_007300.3:c.4297A>G NP_009231.2:p.Ile1433Val
NR_027676.1:n.4433A>G
NM_007294.4:c.4297A>G MANE Select NP_009225.1:p.Ile1433Val
NM_007297.4:c.4156A>G NP_009228.2:p.Ile1386Val
NM_007299.4:c.988A>G NP_009230.2:p.Ile330Val
NM_007300.4:c.4297A>G NP_009231.2:p.Ile1433Val
NR_027676.2:n.4474A>G