Canonical Allele Identifier: CA002865
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37594
dbSNP Id: rs397507233

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43099876T>G , CM000679.2:g.43099876T>G GRCh38
NC_000017.10:g.41251893T>G , CM000679.1:g.41251893T>G GRCh37
NC_000017.9:g.38505419T>G NCBI36
NG_005905.2:g.118108A>C , LRG_292:g.118108A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.510A>C
ENST00000461574.2:c.446A>C ENSP00000417241.2:p.Glu149Ala
ENST00000470026.6:c.446A>C ENSP00000419274.2:p.Glu149Ala
ENST00000473961.6:c.443A>C ENSP00000420201.2:p.Glu148Ala
ENST00000476777.6:c.443A>C ENSP00000417554.2:p.Glu148Ala
ENST00000477152.6:c.368A>C ENSP00000419988.2:p.Glu123Ala
ENST00000478531.6:c.443A>C ENSP00000420412.2:p.Glu148Ala
ENST00000489037.2:c.368A>C ENSP00000420781.2:p.Glu123Ala
ENST00000493919.6:c.305A>C ENSP00000418819.2:p.Glu102Ala
ENST00000494123.6:c.446A>C ENSP00000419103.2:p.Glu149Ala
ENST00000497488.2:c.-218-5016A>C ENSP00000418986.2:n.-218-5016A>C
ENST00000618469.2:c.446A>C ENSP00000478114.2:p.Glu149Ala
ENST00000634433.2:c.446A>C ENSP00000489431.2:p.Glu149Ala
ENST00000644379.2:c.446A>C ENSP00000496570.2:p.Glu149Ala
ENST00000644555.2:c.305A>C ENSP00000494614.2:p.Glu102Ala
ENST00000652672.2:c.305A>C ENSP00000498906.2:p.Glu102Ala
ENST00000484087.6:c.446A>C ENSP00000419481.2:p.Glu149Ala
ENST00000700182.1:c.365A>C ENSP00000514849.1:p.Glu122Ala
ENST00000700183.1:c.*360A>C ENSP00000514850.1:n.*360A>C
ENST00000700184.1:n.686A>C
ENST00000357654.9:c.446A>C MANE Select ENSP00000350283.3:p.Glu149Ala
ENST00000471181.7:c.446A>C ENSP00000418960.2:p.Glu149Ala
ENST00000642945.1:c.*320A>C ENSP00000495897.1:n.*320A>C
ENST00000652672.1:c.305A>C ENSP00000498906.1:p.Glu102Ala
ENST00000352993.7:c.446A>C ENSP00000312236.5:p.Glu149Ala
ENST00000354071.7:c.446A>C ENSP00000326002.7:p.Glu149Ala
ENST00000357654.7:c.446A>C ENSP00000350283.3:p.Glu149Ala
ENST00000461221.5:c.*229A>C ENSP00000418548.1:n.*229A>C
ENST00000461798.5:c.*232A>C ENSP00000417988.1:n.*232A>C
ENST00000468300.5:c.446A>C ENSP00000417148.1:p.Glu149Ala
ENST00000470026.5:c.446A>C ENSP00000419274.1:p.Glu149Ala
ENST00000471181.6:c.446A>C ENSP00000418960.2:p.Glu149Ala
ENST00000473961.5:c.166A>C
ENST00000476777.5:c.443A>C ENSP00000417554.1:p.Glu148Ala
ENST00000477152.5:c.368A>C ENSP00000419988.1:p.Glu123Ala
ENST00000478531.5:c.443A>C ENSP00000420412.1:p.Glu148Ala
ENST00000484087.5:c.191A>C ENSP00000419481.1:p.Glu64Ala
ENST00000487825.5:c.194A>C ENSP00000418212.1:p.Glu65Ala
ENST00000491747.6:c.446A>C ENSP00000420705.2:p.Glu149Ala
ENST00000492859.5:c.*382A>C ENSP00000420253.1:n.*382A>C
ENST00000493795.5:c.305A>C ENSP00000418775.1:p.Glu102Ala
ENST00000493919.5:c.305A>C ENSP00000418819.1:p.Glu102Ala
ENST00000494123.5:c.446A>C ENSP00000419103.1:p.Glu149Ala
ENST00000497488.1:c.-218-5016A>C ENSP00000418986.1:n.-218-5016A>C
ENST00000586385.5:c.4+25306A>C ENSP00000465818.1:n.4+25306A>C
ENST00000591534.5:c.-43-25355A>C ENSP00000467329.1:n.-43-25355A>C
ENST00000591849.5:c.-99+25395A>C ENSP00000465347.1:n.-99+25395A>C
ENST00000634433.1:c.446A>C ENSP00000489431.1:p.Glu149Ala
NM_007294.3:c.446A>C , LRG_292t1:c.446A>C NP_009225.1:p.Glu149Ala
NM_007297.3:c.305A>C NP_009228.2:p.Glu102Ala
NM_007298.3:c.446A>C NP_009229.2:p.Glu149Ala
NM_007299.3:c.446A>C NP_009230.2:p.Glu149Ala
NM_007300.3:c.446A>C NP_009231.2:p.Glu149Ala
NR_027676.1:n.582A>C
NM_007294.4:c.446A>C MANE Select NP_009225.1:p.Glu149Ala
NM_007297.4:c.305A>C NP_009228.2:p.Glu102Ala
NM_007299.4:c.446A>C NP_009230.2:p.Glu149Ala
NM_007300.4:c.446A>C NP_009231.2:p.Glu149Ala
NR_027676.2:n.623A>C