Canonical Allele Identifier: CA500233988
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1619219
dbSNP Id: rs1173044823
MyVariant Identifiers: chr17:g.41246441A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094424A>G , CM000679.2:g.43094424A>G GRCh38
NC_000017.10:g.41246441A>G , CM000679.1:g.41246441A>G GRCh37
NC_000017.9:g.38499967A>G NCBI36
NG_005905.2:g.123560T>C , LRG_292:g.123560T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1171T>C
ENST00000461574.2:c.1107T>C ENSP00000417241.2:p.Asp369=
ENST00000470026.6:c.1107T>C ENSP00000419274.2:p.Asp369=
ENST00000473961.6:c.981T>C ENSP00000420201.2:p.Asp327=
ENST00000476777.6:c.1104T>C ENSP00000417554.2:p.Asp368=
ENST00000477152.6:c.1029T>C ENSP00000419988.2:p.Asp343=
ENST00000478531.6:c.784+320T>C ENSP00000420412.2:n.784+320T>C
ENST00000489037.2:c.1029T>C ENSP00000420781.2:p.Asp343=
ENST00000493919.6:c.646+320T>C ENSP00000418819.2:n.646+320T>C
ENST00000494123.6:c.1107T>C ENSP00000419103.2:p.Asp369=
ENST00000497488.2:c.219T>C ENSP00000418986.2:p.Asp73=
ENST00000618469.2:c.1107T>C ENSP00000478114.2:p.Asp369=
ENST00000634433.2:c.984T>C ENSP00000489431.2:p.Asp328=
ENST00000644379.2:c.1107T>C ENSP00000496570.2:p.Asp369=
ENST00000644555.2:c.646+320T>C ENSP00000494614.2:n.646+320T>C
ENST00000652672.2:c.966T>C ENSP00000498906.2:p.Asp322=
ENST00000484087.6:c.664+320T>C ENSP00000419481.2:n.664+320T>C
ENST00000700182.1:c.706+320T>C ENSP00000514849.1:n.706+320T>C
ENST00000700183.1:c.*1115T>C ENSP00000514850.1:n.*1115T>C
ENST00000357654.9:c.1107T>C MANE Select ENSP00000350283.3:p.Asp369=
ENST00000471181.7:c.1107T>C ENSP00000418960.2:p.Asp369=
ENST00000652672.1:c.966T>C ENSP00000498906.1:p.Asp322=
ENST00000352993.7:c.670+1422T>C ENSP00000312236.5:n.670+1422T>C
ENST00000354071.7:c.1107T>C ENSP00000326002.7:p.Asp369=
ENST00000357654.7:c.1107T>C ENSP00000350283.3:p.Asp369=
ENST00000412061.3:c.458T>C
ENST00000461221.5:c.*890T>C ENSP00000418548.1:n.*890T>C
ENST00000468300.5:c.787+320T>C ENSP00000417148.1:n.787+320T>C
ENST00000470026.5:c.1107T>C ENSP00000419274.1:p.Asp369=
ENST00000471181.6:c.1107T>C ENSP00000418960.2:p.Asp369=
ENST00000473961.5:c.704T>C
ENST00000477152.5:c.1029T>C ENSP00000419988.1:p.Asp343=
ENST00000478531.5:c.784+320T>C ENSP00000420412.1:n.784+320T>C
ENST00000484087.5:c.409+320T>C ENSP00000419481.1:n.409+320T>C
ENST00000487825.5:c.412+320T>C ENSP00000418212.1:n.412+320T>C
ENST00000491747.6:c.787+320T>C ENSP00000420705.2:n.787+320T>C
ENST00000492859.5:c.*1043T>C ENSP00000420253.1:n.*1043T>C
ENST00000493795.5:c.966T>C ENSP00000418775.1:p.Asp322=
ENST00000493919.5:c.646+320T>C ENSP00000418819.1:n.646+320T>C
ENST00000494123.5:c.1107T>C ENSP00000419103.1:p.Asp369=
ENST00000497488.1:c.219T>C ENSP00000418986.1:p.Asp73=
ENST00000586385.5:c.5-30473T>C ENSP00000465818.1:n.5-30473T>C
ENST00000591534.5:c.-43-19903T>C ENSP00000467329.1:n.-43-19903T>C
ENST00000591849.5:c.-99+30847T>C ENSP00000465347.1:n.-99+30847T>C
ENST00000634433.1:c.984T>C ENSP00000489431.1:p.Asp328=
NM_007294.3:c.1107T>C , LRG_292t1:c.1107T>C NP_009225.1:p.Asp369=
NM_007297.3:c.966T>C NP_009228.2:p.Asp322=
NM_007298.3:c.787+320T>C NP_009229.2:n.787+320T>C
NM_007299.3:c.787+320T>C NP_009230.2:n.787+320T>C
NM_007300.3:c.1107T>C NP_009231.2:p.Asp369=
NR_027676.1:n.1243T>C
NM_007294.4:c.1107T>C MANE Select NP_009225.1:p.Asp369=
NM_007297.4:c.966T>C NP_009228.2:p.Asp322=
NM_007299.4:c.787+320T>C NP_009230.2:n.787+320T>C
NM_007300.4:c.1107T>C NP_009231.2:p.Asp369=
NR_027676.2:n.1284T>C