Canonical Allele Identifier: CA002703
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55137
dbSNP Id: rs80357306

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082563T>C , CM000679.2:g.43082563T>C GRCh38
NC_000017.10:g.41234580T>C , CM000679.1:g.41234580T>C GRCh37
NC_000017.9:g.38488106T>C NCBI36
NG_005905.2:g.135421A>G , LRG_292:g.135421A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.4198A>G MANE Select ENSP00000350283.3:p.Met1400Val
ENST00000471181.7:c.4198A>G ENSP00000418960.2:p.Met1400Val
ENST00000644379.1:n.519A>G
ENST00000352993.7:c.772A>G ENSP00000312236.5:p.Met258Val
ENST00000357654.7:c.4198A>G ENSP00000350283.3:p.Met1400Val
ENST00000461221.5:c.*3981A>G ENSP00000418548.1:n.*3981A>G
ENST00000461574.1:n.492A>G
ENST00000468300.5:c.889A>G ENSP00000417148.1:p.Met297Val
ENST00000471181.6:c.4198A>G ENSP00000418960.2:p.Met1400Val
ENST00000478531.5:c.886A>G ENSP00000420412.1:p.Met296Val
ENST00000484087.5:n.511A>G ENSP00000419481.1:p.Met171Val
ENST00000487825.5:n.514A>G ENSP00000418212.1:p.Met172Val
ENST00000491747.6:c.889A>G ENSP00000420705.2:p.Met297Val
ENST00000493795.5:c.4057A>G ENSP00000418775.1:p.Met1353Val
ENST00000493919.5:c.748A>G ENSP00000418819.1:p.Met250Val
ENST00000586385.5:c.5-18612A>G ENSP00000465818.1:n.5-18612A>G
ENST00000591534.5:c.-43-8042A>G ENSP00000467329.1:n.-43-8042A>G
ENST00000591849.5:c.-98-32373A>G ENSP00000465347.1:n.-98-32373A>G
ENST00000621897.1:n.92A>G
NM_007294.3:c.4198A>G , LRG_292t1:c.4198A>G NP_009225.1:p.Met1400Val
NM_007297.3:c.4057A>G NP_009228.2:p.Met1353Val
NM_007298.3:c.889A>G NP_009229.2:p.Met297Val
NM_007299.3:c.889A>G NP_009230.2:p.Met297Val
NM_007300.3:c.4198A>G NP_009231.2:p.Met1400Val
NR_027676.1:n.4334A>G
NM_007294.4:c.4198A>G MANE Select NP_009225.1:p.Met1400Val
NM_007297.4:c.4057A>G NP_009228.2:p.Met1353Val
NM_007299.4:c.889A>G NP_009230.2:p.Met297Val
NM_007300.4:c.4198A>G NP_009231.2:p.Met1400Val
NR_027676.2:n.4375A>G