Canonical Allele Identifier: CA000922

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54230
• ClinVar RCV Id: RCV000047451 ; RCV000077488 ; RCV000129965 ; RCV000148410 ; RCV000289723
• dbSNP Id: rs80357221
• ExAC: 17:41246164 C / T
• gnomAD v2: 17-41246164-C-T
• gnomAD v3: 17-43094147-C-T
• gnomAD v4: 17-43094147-C-T
• MyVariant Identifiers: chr17:g.41246164C>T (hg19) ; chr17:g.43094147C>T (hg38)
• PubMed: PMID:12531920 ; PMID:15001988 ; PMID:15385441 ; PMID:16518693 ; PMID:18273839 ; PMID:20858050 ; PMID:25637381 ; PMID:26689913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094147C>T , CM000679.2:g.43094147C>T	GRCh38
NC_000017.10:g.41246164C>T , CM000679.1:g.41246164C>T	GRCh37
NC_000017.9:g.38499690C>T	NCBI36
NG_005905.2:g.123837G>A , LRG_292:g.123837G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1448G>A
ENST00000461574.2:c.1384G>A	ENSP00000417241.2:p.Gly462Arg
ENST00000470026.6:c.1384G>A	ENSP00000419274.2:p.Gly462Arg
ENST00000473961.6:c.1258G>A	ENSP00000420201.2:p.Gly420Arg
ENST00000476777.6:c.1381G>A	ENSP00000417554.2:p.Gly461Arg
ENST00000477152.6:c.1306G>A	ENSP00000419988.2:p.Gly436Arg
ENST00000478531.6:c.784+597G>A	ENSP00000420412.2:n.784+597G>A
ENST00000489037.2:c.1306G>A	ENSP00000420781.2:p.Gly436Arg
ENST00000493919.6:c.646+597G>A	ENSP00000418819.2:n.646+597G>A
ENST00000494123.6:c.1384G>A	ENSP00000419103.2:p.Gly462Arg
ENST00000497488.2:c.496G>A	ENSP00000418986.2:p.Gly166Arg
ENST00000618469.2:c.1384G>A	ENSP00000478114.2:p.Gly462Arg
ENST00000634433.2:c.1261G>A	ENSP00000489431.2:p.Gly421Arg
ENST00000644379.2:c.1384G>A	ENSP00000496570.2:p.Gly462Arg
ENST00000644555.2:c.646+597G>A	ENSP00000494614.2:n.646+597G>A
ENST00000652672.2:c.1243G>A	ENSP00000498906.2:p.Gly415Arg
ENST00000484087.6:c.664+597G>A	ENSP00000419481.2:n.664+597G>A
ENST00000700182.1:c.706+597G>A	ENSP00000514849.1:n.706+597G>A
ENST00000700183.1:c.*1392G>A	ENSP00000514850.1:n.*1392G>A
ENST00000357654.9:c.1384G>A MANE Select	ENSP00000350283.3:p.Gly462Arg
ENST00000471181.7:c.1384G>A	ENSP00000418960.2:p.Gly462Arg
ENST00000652672.1:c.1243G>A	ENSP00000498906.1:p.Gly415Arg
ENST00000352993.7:c.670+1699G>A	ENSP00000312236.5:n.670+1699G>A
ENST00000354071.7:c.1384G>A	ENSP00000326002.7:p.Gly462Arg
ENST00000357654.7:c.1384G>A	ENSP00000350283.3:p.Gly462Arg
ENST00000412061.3:c.735G>A
ENST00000461221.5:c.*1167G>A	ENSP00000418548.1:n.*1167G>A
ENST00000468300.5:c.787+597G>A	ENSP00000417148.1:n.787+597G>A
ENST00000470026.5:c.1384G>A	ENSP00000419274.1:p.Gly462Arg
ENST00000471181.6:c.1384G>A	ENSP00000418960.2:p.Gly462Arg
ENST00000477152.5:c.1306G>A	ENSP00000419988.1:p.Gly436Arg
ENST00000478531.5:c.784+597G>A	ENSP00000420412.1:n.784+597G>A
ENST00000484087.5:c.409+597G>A	ENSP00000419481.1:n.409+597G>A
ENST00000487825.5:c.412+597G>A	ENSP00000418212.1:n.412+597G>A
ENST00000491747.6:c.787+597G>A	ENSP00000420705.2:n.787+597G>A
ENST00000492859.5:c.*1320G>A	ENSP00000420253.1:n.*1320G>A
ENST00000493795.5:c.1243G>A	ENSP00000418775.1:p.Gly415Arg
ENST00000493919.5:c.646+597G>A	ENSP00000418819.1:n.646+597G>A
ENST00000494123.5:c.1384G>A	ENSP00000419103.1:p.Gly462Arg
ENST00000497488.1:c.496G>A	ENSP00000418986.1:p.Gly166Arg
ENST00000586385.5:c.5-30196G>A	ENSP00000465818.1:n.5-30196G>A
ENST00000591534.5:c.-43-19626G>A	ENSP00000467329.1:n.-43-19626G>A
ENST00000591849.5:c.-99+31124G>A	ENSP00000465347.1:n.-99+31124G>A
ENST00000634433.1:c.1261G>A	ENSP00000489431.1:p.Gly421Arg
NM_007294.3:c.1384G>A , LRG_292t1:c.1384G>A	NP_009225.1:p.Gly462Arg
NM_007297.3:c.1243G>A	NP_009228.2:p.Gly415Arg
NM_007298.3:c.787+597G>A	NP_009229.2:n.787+597G>A
NM_007299.3:c.787+597G>A	NP_009230.2:n.787+597G>A
NM_007300.3:c.1384G>A	NP_009231.2:p.Gly462Arg
NR_027676.1:n.1520G>A
NM_007294.4:c.1384G>A MANE Select	NP_009225.1:p.Gly462Arg
NM_007297.4:c.1243G>A	NP_009228.2:p.Gly415Arg
NM_007299.4:c.787+597G>A	NP_009230.2:n.787+597G>A
NM_007300.4:c.1384G>A	NP_009231.2:p.Gly462Arg
NR_027676.2:n.1561G>A