Canonical Allele Identifier: CA10599872
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948211
dbSNP Id: rs2053994698

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094437C>T , CM000679.2:g.43094437C>T GRCh38
NC_000017.10:g.41246454C>T , CM000679.1:g.41246454C>T GRCh37
NC_000017.9:g.38499980C>T NCBI36
NG_005905.2:g.123547G>A , LRG_292:g.123547G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1158G>A
ENST00000461574.2:c.1094G>A ENSP00000417241.2:p.Arg365Lys
ENST00000470026.6:c.1094G>A ENSP00000419274.2:p.Arg365Lys
ENST00000473961.6:c.968G>A ENSP00000420201.2:p.Arg323Lys
ENST00000476777.6:c.1091G>A ENSP00000417554.2:p.Arg364Lys
ENST00000477152.6:c.1016G>A ENSP00000419988.2:p.Arg339Lys
ENST00000478531.6:c.784+307G>A ENSP00000420412.2:n.784+307G>A
ENST00000489037.2:c.1016G>A ENSP00000420781.2:p.Arg339Lys
ENST00000493919.6:c.646+307G>A ENSP00000418819.2:n.646+307G>A
ENST00000494123.6:c.1094G>A ENSP00000419103.2:p.Arg365Lys
ENST00000497488.2:c.206G>A ENSP00000418986.2:p.Arg69Lys
ENST00000618469.2:c.1094G>A ENSP00000478114.2:p.Arg365Lys
ENST00000634433.2:c.971G>A ENSP00000489431.2:p.Arg324Lys
ENST00000644379.2:c.1094G>A ENSP00000496570.2:p.Arg365Lys
ENST00000644555.2:c.646+307G>A ENSP00000494614.2:n.646+307G>A
ENST00000652672.2:c.953G>A ENSP00000498906.2:p.Arg318Lys
ENST00000484087.6:c.664+307G>A ENSP00000419481.2:n.664+307G>A
ENST00000700182.1:c.706+307G>A ENSP00000514849.1:n.706+307G>A
ENST00000700183.1:c.*1102G>A ENSP00000514850.1:n.*1102G>A
ENST00000357654.9:c.1094G>A MANE Select ENSP00000350283.3:p.Arg365Lys
ENST00000471181.7:c.1094G>A ENSP00000418960.2:p.Arg365Lys
ENST00000652672.1:c.953G>A ENSP00000498906.1:p.Arg318Lys
ENST00000352993.7:c.670+1409G>A ENSP00000312236.5:n.670+1409G>A
ENST00000354071.7:c.1094G>A ENSP00000326002.7:p.Arg365Lys
ENST00000357654.7:c.1094G>A ENSP00000350283.3:p.Arg365Lys
ENST00000412061.3:c.445G>A
ENST00000461221.5:c.*877G>A ENSP00000418548.1:n.*877G>A
ENST00000468300.5:c.787+307G>A ENSP00000417148.1:n.787+307G>A
ENST00000470026.5:c.1094G>A ENSP00000419274.1:p.Arg365Lys
ENST00000471181.6:c.1094G>A ENSP00000418960.2:p.Arg365Lys
ENST00000473961.5:c.691G>A
ENST00000477152.5:c.1016G>A ENSP00000419988.1:p.Arg339Lys
ENST00000478531.5:c.784+307G>A ENSP00000420412.1:n.784+307G>A
ENST00000484087.5:c.409+307G>A ENSP00000419481.1:n.409+307G>A
ENST00000487825.5:c.412+307G>A ENSP00000418212.1:n.412+307G>A
ENST00000491747.6:c.787+307G>A ENSP00000420705.2:n.787+307G>A
ENST00000492859.5:c.*1030G>A ENSP00000420253.1:n.*1030G>A
ENST00000493795.5:c.953G>A ENSP00000418775.1:p.Arg318Lys
ENST00000493919.5:c.646+307G>A ENSP00000418819.1:n.646+307G>A
ENST00000494123.5:c.1094G>A ENSP00000419103.1:p.Arg365Lys
ENST00000497488.1:c.206G>A ENSP00000418986.1:p.Arg69Lys
ENST00000586385.5:c.5-30486G>A ENSP00000465818.1:n.5-30486G>A
ENST00000591534.5:c.-43-19916G>A ENSP00000467329.1:n.-43-19916G>A
ENST00000591849.5:c.-99+30834G>A ENSP00000465347.1:n.-99+30834G>A
ENST00000634433.1:c.971G>A ENSP00000489431.1:p.Arg324Lys
NM_007294.3:c.1094G>A , LRG_292t1:c.1094G>A NP_009225.1:p.Arg365Lys
NM_007297.3:c.953G>A NP_009228.2:p.Arg318Lys
NM_007298.3:c.787+307G>A NP_009229.2:n.787+307G>A
NM_007299.3:c.787+307G>A NP_009230.2:n.787+307G>A
NM_007300.3:c.1094G>A NP_009231.2:p.Arg365Lys
NR_027676.1:n.1230G>A
NM_007294.4:c.1094G>A MANE Select NP_009225.1:p.Arg365Lys
NM_007297.4:c.953G>A NP_009228.2:p.Arg318Lys
NM_007299.4:c.787+307G>A NP_009230.2:n.787+307G>A
NM_007300.4:c.1094G>A NP_009231.2:p.Arg365Lys
NR_027676.2:n.1271G>A