Canonical Allele Identifier: CA003202
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37633
dbSNP Id: rs80187739

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067608C>G , CM000679.2:g.43067608C>G GRCh38
NC_000017.10:g.41219625C>G , CM000679.1:g.41219625C>G GRCh37
NC_000017.9:g.38473151C>G NCBI36
NG_005905.2:g.150376G>C , LRG_292:g.150376G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071G>C ENSP00000417241.2:p.Asp1691His
ENST00000470026.6:c.5074G>C ENSP00000419274.2:p.Asp1692His
ENST00000473961.6:c.4948G>C ENSP00000420201.2:p.Asp1650His
ENST00000476777.6:c.5068G>C ENSP00000417554.2:p.Asp1690His
ENST00000477152.6:c.4996G>C ENSP00000419988.2:p.Asp1666His
ENST00000478531.6:c.1762G>C ENSP00000420412.2:p.Asp588His
ENST00000489037.2:c.4996G>C ENSP00000420781.2:p.Asp1666His
ENST00000493919.6:c.1624G>C ENSP00000418819.2:p.Asp542His
ENST00000494123.6:c.5074G>C ENSP00000419103.2:p.Asp1692His
ENST00000497488.2:c.4186G>C ENSP00000418986.2:p.Asp1396His
ENST00000618469.2:c.5074G>C ENSP00000478114.2:p.Asp1692His
ENST00000634433.2:c.4951G>C ENSP00000489431.2:p.Asp1651His
ENST00000644379.2:c.5140G>C ENSP00000496570.2:p.Asp1714His
ENST00000644555.2:c.1624G>C ENSP00000494614.2:p.Asp542His
ENST00000652672.2:c.4933G>C ENSP00000498906.2:p.Asp1645His
ENST00000484087.6:c.1636G>C ENSP00000419481.2:p.Asp546His
ENST00000357654.9:c.5074G>C MANE Select ENSP00000350283.3:p.Asp1692His
ENST00000471181.7:c.5137G>C ENSP00000418960.2:p.Asp1713His
ENST00000644379.1:c.1461G>C
ENST00000352993.7:c.1648G>C ENSP00000312236.5:p.Asp550His
ENST00000357654.7:c.5074G>C ENSP00000350283.3:p.Asp1692His
ENST00000461221.5:c.*4857G>C ENSP00000418548.1:n.*4857G>C
ENST00000468300.5:c.1762G>C ENSP00000417148.1:p.Asp588His
ENST00000471181.6:c.5137G>C ENSP00000418960.2:p.Asp1713His
ENST00000472490.1:n.227G>C
ENST00000478531.5:c.1762G>C ENSP00000420412.1:p.Asp588His
ENST00000484087.5:c.1387G>C ENSP00000419481.1:p.Asp463His
ENST00000491747.6:c.1762G>C ENSP00000420705.2:p.Asp588His
ENST00000493795.5:c.4933G>C ENSP00000418775.1:p.Asp1645His
ENST00000493919.5:c.1624G>C ENSP00000418819.1:p.Asp542His
ENST00000586385.5:c.5-3657G>C ENSP00000465818.1:n.5-3657G>C
ENST00000591534.5:c.547G>C ENSP00000467329.1:p.Asp183His
ENST00000591849.5:c.-98-17418G>C ENSP00000465347.1:n.-98-17418G>C
NM_007294.3:c.5074G>C , LRG_292t1:c.5074G>C NP_009225.1:p.Asp1692His
NM_007297.3:c.4933G>C NP_009228.2:p.Asp1645His
NM_007298.3:c.1762G>C NP_009229.2:p.Asp588His
NM_007299.3:c.1762G>C NP_009230.2:p.Asp588His
NM_007300.3:c.5137G>C NP_009231.2:p.Asp1713His
NR_027676.1:n.5210G>C
NM_007294.4:c.5074G>C MANE Select NP_009225.1:p.Asp1692His
NM_007297.4:c.4933G>C NP_009228.2:p.Asp1645His
NM_007299.4:c.1762G>C NP_009230.2:p.Asp588His
NM_007300.4:c.5137G>C NP_009231.2:p.Asp1713His
NR_027676.2:n.5251G>C