Canonical Allele Identifier: CA10593914
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1720861

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091509A>G , CM000679.2:g.43091509A>G GRCh38
NC_000017.10:g.41243526A>G , CM000679.1:g.41243526A>G GRCh37
NC_000017.9:g.38497052A>G NCBI36
NG_005905.2:g.126475T>C , LRG_292:g.126475T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4086T>C
ENST00000461574.2:c.4022T>C ENSP00000417241.2:p.Val1341Ala
ENST00000470026.6:c.4022T>C ENSP00000419274.2:p.Val1341Ala
ENST00000473961.6:c.3896T>C ENSP00000420201.2:p.Val1299Ala
ENST00000476777.6:c.4019T>C ENSP00000417554.2:p.Val1340Ala
ENST00000477152.6:c.3944T>C ENSP00000419988.2:p.Val1315Ala
ENST00000478531.6:c.785-477T>C ENSP00000420412.2:n.785-477T>C
ENST00000489037.2:c.3944T>C ENSP00000420781.2:p.Val1315Ala
ENST00000493919.6:c.647-477T>C ENSP00000418819.2:n.647-477T>C
ENST00000494123.6:c.4022T>C ENSP00000419103.2:p.Val1341Ala
ENST00000497488.2:c.3134T>C ENSP00000418986.2:p.Val1045Ala
ENST00000618469.2:c.4022T>C ENSP00000478114.2:p.Val1341Ala
ENST00000634433.2:c.3899T>C ENSP00000489431.2:p.Val1300Ala
ENST00000644379.2:c.4022T>C ENSP00000496570.2:p.Val1341Ala
ENST00000644555.2:c.647-477T>C ENSP00000494614.2:n.647-477T>C
ENST00000652672.2:c.3881T>C ENSP00000498906.2:p.Val1294Ala
ENST00000484087.6:c.665-477T>C ENSP00000419481.2:n.665-477T>C
ENST00000700182.1:c.707-477T>C ENSP00000514849.1:n.707-477T>C
ENST00000357654.9:c.4022T>C MANE Select ENSP00000350283.3:p.Val1341Ala
ENST00000471181.7:c.4022T>C ENSP00000418960.2:p.Val1341Ala
ENST00000644379.1:c.343T>C
ENST00000352993.7:c.671-477T>C ENSP00000312236.5:n.671-477T>C
ENST00000354071.7:c.4022T>C ENSP00000326002.7:p.Val1341Ala
ENST00000357654.7:c.4022T>C ENSP00000350283.3:p.Val1341Ala
ENST00000461221.5:c.*3805T>C ENSP00000418548.1:n.*3805T>C
ENST00000461574.1:c.316T>C
ENST00000468300.5:c.788-477T>C ENSP00000417148.1:n.788-477T>C
ENST00000471181.6:c.4022T>C ENSP00000418960.2:p.Val1341Ala
ENST00000478531.5:c.785-477T>C ENSP00000420412.1:n.785-477T>C
ENST00000484087.5:c.410-477T>C ENSP00000419481.1:n.410-477T>C
ENST00000487825.5:c.413-477T>C ENSP00000418212.1:n.413-477T>C
ENST00000491747.6:c.788-477T>C ENSP00000420705.2:n.788-477T>C
ENST00000493795.5:c.3881T>C ENSP00000418775.1:p.Val1294Ala
ENST00000493919.5:c.647-477T>C ENSP00000418819.1:n.647-477T>C
ENST00000586385.5:c.5-27558T>C ENSP00000465818.1:n.5-27558T>C
ENST00000591534.5:c.-43-16988T>C ENSP00000467329.1:n.-43-16988T>C
ENST00000591849.5:c.-99+33762T>C ENSP00000465347.1:n.-99+33762T>C
NM_007294.3:c.4022T>C , LRG_292t1:c.4022T>C NP_009225.1:p.Val1341Ala
NM_007297.3:c.3881T>C NP_009228.2:p.Val1294Ala
NM_007298.3:c.788-477T>C NP_009229.2:n.788-477T>C
NM_007299.3:c.788-477T>C NP_009230.2:n.788-477T>C
NM_007300.3:c.4022T>C NP_009231.2:p.Val1341Ala
NR_027676.1:n.4158T>C
NM_007294.4:c.4022T>C MANE Select NP_009225.1:p.Val1341Ala
NM_007297.4:c.3881T>C NP_009228.2:p.Val1294Ala
NM_007299.4:c.788-477T>C NP_009230.2:n.788-477T>C
NM_007300.4:c.4022T>C NP_009231.2:p.Val1341Ala
NR_027676.2:n.4199T>C