Canonical Allele Identifier: CA10600067
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs80357464

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094536C>A , CM000679.2:g.43094536C>A GRCh38
NC_000017.10:g.41246553C>A , CM000679.1:g.41246553C>A GRCh37
NC_000017.9:g.38500079C>A NCBI36
NG_005905.2:g.123448G>T , LRG_292:g.123448G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1059G>T
ENST00000461574.2:c.995G>T ENSP00000417241.2:p.Arg332Leu
ENST00000470026.6:c.995G>T ENSP00000419274.2:p.Arg332Leu
ENST00000473961.6:c.869G>T ENSP00000420201.2:p.Arg290Leu
ENST00000476777.6:c.992G>T ENSP00000417554.2:p.Arg331Leu
ENST00000477152.6:c.917G>T ENSP00000419988.2:p.Arg306Leu
ENST00000478531.6:c.784+208G>T ENSP00000420412.2:n.784+208G>T
ENST00000489037.2:c.917G>T ENSP00000420781.2:p.Arg306Leu
ENST00000493919.6:c.646+208G>T ENSP00000418819.2:n.646+208G>T
ENST00000494123.6:c.995G>T ENSP00000419103.2:p.Arg332Leu
ENST00000497488.2:c.107G>T ENSP00000418986.2:p.Arg36Leu
ENST00000618469.2:c.995G>T ENSP00000478114.2:p.Arg332Leu
ENST00000634433.2:c.872G>T ENSP00000489431.2:p.Arg291Leu
ENST00000644379.2:c.995G>T ENSP00000496570.2:p.Arg332Leu
ENST00000644555.2:c.646+208G>T ENSP00000494614.2:n.646+208G>T
ENST00000652672.2:c.854G>T ENSP00000498906.2:p.Arg285Leu
ENST00000484087.6:c.664+208G>T ENSP00000419481.2:n.664+208G>T
ENST00000700182.1:c.706+208G>T ENSP00000514849.1:n.706+208G>T
ENST00000700183.1:c.*1003G>T ENSP00000514850.1:n.*1003G>T
ENST00000357654.9:c.995G>T MANE Select ENSP00000350283.3:p.Arg332Leu
ENST00000471181.7:c.995G>T ENSP00000418960.2:p.Arg332Leu
ENST00000642945.1:c.*869G>T ENSP00000495897.1:n.*869G>T
ENST00000652672.1:c.854G>T ENSP00000498906.1:p.Arg285Leu
ENST00000352993.7:c.670+1310G>T ENSP00000312236.5:n.670+1310G>T
ENST00000354071.7:c.995G>T ENSP00000326002.7:p.Arg332Leu
ENST00000357654.7:c.995G>T ENSP00000350283.3:p.Arg332Leu
ENST00000412061.3:c.346G>T
ENST00000461221.5:c.*778G>T ENSP00000418548.1:n.*778G>T
ENST00000468300.5:c.787+208G>T ENSP00000417148.1:n.787+208G>T
ENST00000470026.5:c.995G>T ENSP00000419274.1:p.Arg332Leu
ENST00000471181.6:c.995G>T ENSP00000418960.2:p.Arg332Leu
ENST00000473961.5:c.592G>T
ENST00000477152.5:c.917G>T ENSP00000419988.1:p.Arg306Leu
ENST00000478531.5:c.784+208G>T ENSP00000420412.1:n.784+208G>T
ENST00000484087.5:c.409+208G>T ENSP00000419481.1:n.409+208G>T
ENST00000487825.5:c.412+208G>T ENSP00000418212.1:n.412+208G>T
ENST00000491747.6:c.787+208G>T ENSP00000420705.2:n.787+208G>T
ENST00000492859.5:c.*931G>T ENSP00000420253.1:n.*931G>T
ENST00000493795.5:c.854G>T ENSP00000418775.1:p.Arg285Leu
ENST00000493919.5:c.646+208G>T ENSP00000418819.1:n.646+208G>T
ENST00000494123.5:c.995G>T ENSP00000419103.1:p.Arg332Leu
ENST00000497488.1:c.107G>T ENSP00000418986.1:p.Arg36Leu
ENST00000586385.5:c.5-30585G>T ENSP00000465818.1:n.5-30585G>T
ENST00000591534.5:c.-43-20015G>T ENSP00000467329.1:n.-43-20015G>T
ENST00000591849.5:c.-99+30735G>T ENSP00000465347.1:n.-99+30735G>T
ENST00000634433.1:c.872G>T ENSP00000489431.1:p.Arg291Leu
NM_007294.3:c.995G>T , LRG_292t1:c.995G>T NP_009225.1:p.Arg332Leu
NM_007297.3:c.854G>T NP_009228.2:p.Arg285Leu
NM_007298.3:c.787+208G>T NP_009229.2:n.787+208G>T
NM_007299.3:c.787+208G>T NP_009230.2:n.787+208G>T
NM_007300.3:c.995G>T NP_009231.2:p.Arg332Leu
NR_027676.1:n.1131G>T
NM_007294.4:c.995G>T MANE Select NP_009225.1:p.Arg332Leu
NM_007297.4:c.854G>T NP_009228.2:p.Arg285Leu
NM_007299.4:c.787+208G>T NP_009230.2:n.787+208G>T
NM_007300.4:c.995G>T NP_009231.2:p.Arg332Leu
NR_027676.2:n.1172G>T