Canonical Allele Identifier: CA002810

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 96932
• ClinVar RCV Id: RCV001058941 ; RCV003338411
• dbSNP Id: rs431825408
• gnomAD v4: 17-43076589-A-T
• MyVariant Identifiers: chr17:g.41228606A>T (hg19) ; chr17:g.43076589A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076589A>T , CM000679.2:g.43076589A>T	GRCh38
NC_000017.10:g.41228606A>T , CM000679.1:g.41228606A>T	GRCh37
NC_000017.9:g.38482132A>T	NCBI36
NG_005905.2:g.141395T>A , LRG_292:g.141395T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4380T>A	ENSP00000417241.2:p.Ser1460Arg
ENST00000470026.6:c.4383T>A	ENSP00000419274.2:p.Ser1461Arg
ENST00000473961.6:c.4257T>A	ENSP00000420201.2:p.Ser1419Arg
ENST00000476777.6:c.4377T>A	ENSP00000417554.2:p.Ser1459Arg
ENST00000477152.6:c.4305T>A	ENSP00000419988.2:p.Ser1435Arg
ENST00000478531.6:c.1071T>A	ENSP00000420412.2:p.Ser357Arg
ENST00000489037.2:c.4305T>A	ENSP00000420781.2:p.Ser1435Arg
ENST00000493919.6:c.933T>A	ENSP00000418819.2:p.Ser311Arg
ENST00000494123.6:c.4383T>A	ENSP00000419103.2:p.Ser1461Arg
ENST00000497488.2:c.3495T>A	ENSP00000418986.2:p.Ser1165Arg
ENST00000618469.2:c.4383T>A	ENSP00000478114.2:p.Ser1461Arg
ENST00000634433.2:c.4260T>A	ENSP00000489431.2:p.Ser1420Arg
ENST00000644379.2:c.4449T>A	ENSP00000496570.2:p.Ser1483Arg
ENST00000644555.2:c.933T>A	ENSP00000494614.2:p.Ser311Arg
ENST00000652672.2:c.4242T>A	ENSP00000498906.2:p.Ser1414Arg
ENST00000484087.6:c.945T>A	ENSP00000419481.2:p.Ser315Arg
ENST00000700182.1:c.990T>A	ENSP00000514849.1:p.Ser330Arg
ENST00000357654.9:c.4383T>A MANE Select	ENSP00000350283.3:p.Ser1461Arg
ENST00000471181.7:c.4446T>A	ENSP00000418960.2:p.Ser1482Arg
ENST00000644379.1:c.770T>A
ENST00000352993.7:c.957T>A	ENSP00000312236.5:p.Ser319Arg
ENST00000357654.7:c.4383T>A	ENSP00000350283.3:p.Ser1461Arg
ENST00000461221.5:c.*4166T>A	ENSP00000418548.1:n.*4166T>A
ENST00000461574.1:c.674T>A
ENST00000468300.5:c.1071T>A	ENSP00000417148.1:p.Ser357Arg
ENST00000471181.6:c.4446T>A	ENSP00000418960.2:p.Ser1482Arg
ENST00000478531.5:c.1071T>A	ENSP00000420412.1:p.Ser357Arg
ENST00000484087.5:c.696T>A	ENSP00000419481.1:p.Ser232Arg
ENST00000487825.5:c.699T>A	ENSP00000418212.1:p.Ser233Arg
ENST00000491747.6:c.1071T>A	ENSP00000420705.2:p.Ser357Arg
ENST00000493795.5:c.4242T>A	ENSP00000418775.1:p.Ser1414Arg
ENST00000493919.5:c.933T>A	ENSP00000418819.1:p.Ser311Arg
ENST00000586385.5:c.5-12638T>A	ENSP00000465818.1:n.5-12638T>A
ENST00000591534.5:c.-43-2068T>A	ENSP00000467329.1:n.-43-2068T>A
ENST00000591849.5:c.-98-26399T>A	ENSP00000465347.1:n.-98-26399T>A
ENST00000621897.1:n.274T>A
NM_007294.3:c.4383T>A , LRG_292t1:c.4383T>A	NP_009225.1:p.Ser1461Arg
NM_007297.3:c.4242T>A	NP_009228.2:p.Ser1414Arg
NM_007298.3:c.1071T>A	NP_009229.2:p.Ser357Arg
NM_007299.3:c.1071T>A	NP_009230.2:p.Ser357Arg
NM_007300.3:c.4446T>A	NP_009231.2:p.Ser1482Arg
NR_027676.1:n.4519T>A
NM_007294.4:c.4383T>A MANE Select	NP_009225.1:p.Ser1461Arg
NM_007297.4:c.4242T>A	NP_009228.2:p.Ser1414Arg
NM_007299.4:c.1071T>A	NP_009230.2:p.Ser357Arg
NM_007300.4:c.4446T>A	NP_009231.2:p.Ser1482Arg
NR_027676.2:n.4560T>A