Canonical Allele Identifier: CA003856

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 141549
• ClinVar RCV Id: RCV000130123 ; RCV000474139 ; RCV003493454
• dbSNP Id: rs587781833
• gnomAD v4: 17-43094765-T-A
• MyVariant Identifiers: chr17:g.41246782T>A (hg19) ; chr17:g.43094765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094765T>A , CM000679.2:g.43094765T>A	GRCh38
NC_000017.10:g.41246782T>A , CM000679.1:g.41246782T>A	GRCh37
NC_000017.9:g.38500308T>A	NCBI36
NG_005905.2:g.123219A>T , LRG_292:g.123219A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.830A>T
ENST00000461574.2:c.766A>T	ENSP00000417241.2:p.Arg256Trp
ENST00000470026.6:c.766A>T	ENSP00000419274.2:p.Arg256Trp
ENST00000473961.6:c.640A>T	ENSP00000420201.2:p.Arg214Trp
ENST00000476777.6:c.763A>T	ENSP00000417554.2:p.Arg255Trp
ENST00000477152.6:c.688A>T	ENSP00000419988.2:p.Arg230Trp
ENST00000478531.6:c.763A>T	ENSP00000420412.2:p.Arg255Trp
ENST00000489037.2:c.688A>T	ENSP00000420781.2:p.Arg230Trp
ENST00000493919.6:c.625A>T	ENSP00000418819.2:p.Arg209Trp
ENST00000494123.6:c.766A>T	ENSP00000419103.2:p.Arg256Trp
ENST00000497488.2:c.-123A>T	ENSP00000418986.2:n.-123A>T
ENST00000618469.2:c.766A>T	ENSP00000478114.2:p.Arg256Trp
ENST00000634433.2:c.643A>T	ENSP00000489431.2:p.Arg215Trp
ENST00000644379.2:c.766A>T	ENSP00000496570.2:p.Arg256Trp
ENST00000644555.2:c.625A>T	ENSP00000494614.2:p.Arg209Trp
ENST00000652672.2:c.625A>T	ENSP00000498906.2:p.Arg209Trp
ENST00000484087.6:c.643A>T	ENSP00000419481.2:p.Arg215Trp
ENST00000700182.1:c.685A>T	ENSP00000514849.1:p.Arg229Trp
ENST00000700183.1:c.*774A>T	ENSP00000514850.1:n.*774A>T
ENST00000357654.9:c.766A>T MANE Select	ENSP00000350283.3:p.Arg256Trp
ENST00000471181.7:c.766A>T	ENSP00000418960.2:p.Arg256Trp
ENST00000642945.1:c.*640A>T	ENSP00000495897.1:n.*640A>T
ENST00000652672.1:c.625A>T	ENSP00000498906.1:p.Arg209Trp
ENST00000352993.7:c.670+1081A>T	ENSP00000312236.5:n.670+1081A>T
ENST00000354071.7:c.766A>T	ENSP00000326002.7:p.Arg256Trp
ENST00000357654.7:c.766A>T	ENSP00000350283.3:p.Arg256Trp
ENST00000412061.3:c.117A>T
ENST00000461221.5:c.*549A>T	ENSP00000418548.1:n.*549A>T
ENST00000468300.5:c.766A>T	ENSP00000417148.1:p.Arg256Trp
ENST00000470026.5:c.766A>T	ENSP00000419274.1:p.Arg256Trp
ENST00000471181.6:c.766A>T	ENSP00000418960.2:p.Arg256Trp
ENST00000473961.5:c.363A>T
ENST00000477152.5:c.688A>T	ENSP00000419988.1:p.Arg230Trp
ENST00000478531.5:c.763A>T	ENSP00000420412.1:p.Arg255Trp
ENST00000484087.5:c.388A>T	ENSP00000419481.1:p.Arg130Trp
ENST00000487825.5:c.391A>T	ENSP00000418212.1:p.Arg131Trp
ENST00000491747.6:c.766A>T	ENSP00000420705.2:p.Arg256Trp
ENST00000492859.5:c.*702A>T	ENSP00000420253.1:n.*702A>T
ENST00000493795.5:c.625A>T	ENSP00000418775.1:p.Arg209Trp
ENST00000493919.5:c.625A>T	ENSP00000418819.1:p.Arg209Trp
ENST00000494123.5:c.766A>T	ENSP00000419103.1:p.Arg256Trp
ENST00000497488.1:c.-123A>T	ENSP00000418986.1:n.-123A>T
ENST00000586385.5:c.4+30417A>T	ENSP00000465818.1:n.4+30417A>T
ENST00000591534.5:c.-43-20244A>T	ENSP00000467329.1:n.-43-20244A>T
ENST00000591849.5:c.-99+30506A>T	ENSP00000465347.1:n.-99+30506A>T
ENST00000634433.1:c.643A>T	ENSP00000489431.1:p.Arg215Trp
NM_007294.3:c.766A>T , LRG_292t1:c.766A>T	NP_009225.1:p.Arg256Trp
NM_007297.3:c.625A>T	NP_009228.2:p.Arg209Trp
NM_007298.3:c.766A>T	NP_009229.2:p.Arg256Trp
NM_007299.3:c.766A>T	NP_009230.2:p.Arg256Trp
NM_007300.3:c.766A>T	NP_009231.2:p.Arg256Trp
NR_027676.1:n.902A>T
NM_007294.4:c.766A>T MANE Select	NP_009225.1:p.Arg256Trp
NM_007297.4:c.625A>T	NP_009228.2:p.Arg209Trp
NM_007299.4:c.766A>T	NP_009230.2:p.Arg256Trp
NM_007300.4:c.766A>T	NP_009231.2:p.Arg256Trp
NR_027676.2:n.943A>T