Canonical Allele Identifier: CA10592683

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2771147
• ClinVar RCV Id: RCV003529885
• dbSNP Id: rs750437234
• COSMIC: COSM1640702 ; COSM1640703
• MyVariant Identifiers: chr17:g.41228562T>C (hg19) ; chr17:g.43076545T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076545T>C , CM000679.2:g.43076545T>C	GRCh38
NC_000017.10:g.41228562T>C , CM000679.1:g.41228562T>C	GRCh37
NC_000017.9:g.38482088T>C	NCBI36
NG_005905.2:g.141439A>G , LRG_292:g.141439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4424A>G	ENSP00000417241.2:p.Lys1475Arg
ENST00000470026.6:c.4427A>G	ENSP00000419274.2:p.Lys1476Arg
ENST00000473961.6:c.4301A>G	ENSP00000420201.2:p.Lys1434Arg
ENST00000476777.6:c.4421A>G	ENSP00000417554.2:p.Lys1474Arg
ENST00000477152.6:c.4349A>G	ENSP00000419988.2:p.Lys1450Arg
ENST00000478531.6:c.1115A>G	ENSP00000420412.2:p.Lys372Arg
ENST00000489037.2:c.4349A>G	ENSP00000420781.2:p.Lys1450Arg
ENST00000493919.6:c.977A>G	ENSP00000418819.2:p.Lys326Arg
ENST00000494123.6:c.4427A>G	ENSP00000419103.2:p.Lys1476Arg
ENST00000497488.2:c.3539A>G	ENSP00000418986.2:p.Lys1180Arg
ENST00000618469.2:c.4427A>G	ENSP00000478114.2:p.Lys1476Arg
ENST00000634433.2:c.4304A>G	ENSP00000489431.2:p.Lys1435Arg
ENST00000644379.2:c.4493A>G	ENSP00000496570.2:p.Lys1498Arg
ENST00000644555.2:c.977A>G	ENSP00000494614.2:p.Lys326Arg
ENST00000652672.2:c.4286A>G	ENSP00000498906.2:p.Lys1429Arg
ENST00000484087.6:c.989A>G	ENSP00000419481.2:p.Lys330Arg
ENST00000700182.1:c.1034A>G	ENSP00000514849.1:p.Lys345Arg
ENST00000357654.9:c.4427A>G MANE Select	ENSP00000350283.3:p.Lys1476Arg
ENST00000471181.7:c.4490A>G	ENSP00000418960.2:p.Lys1497Arg
ENST00000644379.1:c.814A>G
ENST00000352993.7:c.1001A>G	ENSP00000312236.5:p.Lys334Arg
ENST00000357654.7:c.4427A>G	ENSP00000350283.3:p.Lys1476Arg
ENST00000461221.5:c.*4210A>G	ENSP00000418548.1:n.*4210A>G
ENST00000461574.1:c.718A>G
ENST00000468300.5:c.1115A>G	ENSP00000417148.1:p.Lys372Arg
ENST00000471181.6:c.4490A>G	ENSP00000418960.2:p.Lys1497Arg
ENST00000478531.5:c.1115A>G	ENSP00000420412.1:p.Lys372Arg
ENST00000484087.5:c.740A>G	ENSP00000419481.1:p.Lys247Arg
ENST00000487825.5:c.743A>G	ENSP00000418212.1:p.Lys248Arg
ENST00000491747.6:c.1115A>G	ENSP00000420705.2:p.Lys372Arg
ENST00000493795.5:c.4286A>G	ENSP00000418775.1:p.Lys1429Arg
ENST00000493919.5:c.977A>G	ENSP00000418819.1:p.Lys326Arg
ENST00000586385.5:c.5-12594A>G	ENSP00000465818.1:n.5-12594A>G
ENST00000591534.5:c.-43-2024A>G	ENSP00000467329.1:n.-43-2024A>G
ENST00000591849.5:c.-98-26355A>G	ENSP00000465347.1:n.-98-26355A>G
ENST00000621897.1:n.318A>G
NM_007294.3:c.4427A>G , LRG_292t1:c.4427A>G	NP_009225.1:p.Lys1476Arg
NM_007297.3:c.4286A>G	NP_009228.2:p.Lys1429Arg
NM_007298.3:c.1115A>G	NP_009229.2:p.Lys372Arg
NM_007299.3:c.1115A>G	NP_009230.2:p.Lys372Arg
NM_007300.3:c.4490A>G	NP_009231.2:p.Lys1497Arg
NR_027676.1:n.4563A>G
NM_007294.4:c.4427A>G MANE Select	NP_009225.1:p.Lys1476Arg
NM_007297.4:c.4286A>G	NP_009228.2:p.Lys1429Arg
NM_007299.4:c.1115A>G	NP_009230.2:p.Lys372Arg
NM_007300.4:c.4490A>G	NP_009231.2:p.Lys1497Arg
NR_027676.2:n.4604A>G