Canonical Allele Identifier: CA10590583

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867385
• ClinVar RCV Id: RCV001076062 ; RCV001367487 ; RCV003339465
• dbSNP Id: rs2050988927
• MyVariant Identifiers: chr17:g.41199699C>T (hg19) ; chr17:g.43047682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047682C>T , CM000679.2:g.43047682C>T	GRCh38
NC_000017.10:g.41199699C>T , CM000679.1:g.41199699C>T	GRCh37
NC_000017.9:g.38453225C>T	NCBI36
NG_005905.2:g.170302G>A , LRG_292:g.170302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5425G>A	ENSP00000417241.2:p.Val1809Met
ENST00000470026.6:c.5428G>A	ENSP00000419274.2:p.Val1810Met
ENST00000473961.6:c.5302G>A	ENSP00000420201.2:p.Val1768Met
ENST00000476777.6:c.5422G>A	ENSP00000417554.2:p.Val1808Met
ENST00000477152.6:c.5350G>A	ENSP00000419988.2:p.Val1784Met
ENST00000478531.6:c.2116G>A	ENSP00000420412.2:p.Val706Met
ENST00000489037.2:c.5350G>A	ENSP00000420781.2:p.Val1784Met
ENST00000493919.6:c.1978G>A	ENSP00000418819.2:p.Val660Met
ENST00000494123.6:c.5428G>A	ENSP00000419103.2:p.Val1810Met
ENST00000497488.2:c.4540G>A	ENSP00000418986.2:p.Val1514Met
ENST00000618469.2:c.5428G>A	ENSP00000478114.2:p.Val1810Met
ENST00000634433.2:c.5305G>A	ENSP00000489431.2:p.Val1769Met
ENST00000644379.2:c.5494G>A	ENSP00000496570.2:p.Val1832Met
ENST00000644555.2:c.1978G>A	ENSP00000494614.2:p.Val660Met
ENST00000652672.2:c.5287G>A	ENSP00000498906.2:p.Val1763Met
ENST00000484087.6:c.1990G>A	ENSP00000419481.2:p.Val664Met
ENST00000700081.1:n.1311G>A
ENST00000700082.1:n.792G>A
ENST00000357654.9:c.5428G>A MANE Select	ENSP00000350283.3:p.Val1810Met
ENST00000471181.7:c.5491G>A	ENSP00000418960.2:p.Val1831Met
ENST00000644379.1:c.1815G>A
ENST00000352993.7:c.2002G>A	ENSP00000312236.5:p.Val668Met
ENST00000357654.7:c.5428G>A	ENSP00000350283.3:p.Val1810Met
ENST00000461221.5:c.*5211G>A	ENSP00000418548.1:n.*5211G>A
ENST00000468300.5:c.2042G>A	ENSP00000417148.1:p.Cys681Tyr
ENST00000471181.6:c.5491G>A	ENSP00000418960.2:p.Val1831Met
ENST00000491747.6:c.2116G>A	ENSP00000420705.2:p.Val706Met
ENST00000493795.5:c.5287G>A	ENSP00000418775.1:p.Val1763Met
ENST00000586385.5:c.358G>A	ENSP00000465818.1:p.Val120Met
ENST00000591534.5:c.901G>A	ENSP00000467329.1:p.Val301Met
ENST00000591849.5:c.127G>A	ENSP00000465347.1:p.Val43Met
NM_007294.3:c.5428G>A , LRG_292t1:c.5428G>A	NP_009225.1:p.Val1810Met
NM_007297.3:c.5287G>A	NP_009228.2:p.Val1763Met
NM_007298.3:c.2116G>A	NP_009229.2:p.Val706Met
NM_007299.3:c.2042G>A	NP_009230.2:p.Cys681Tyr
NM_007300.3:c.5491G>A	NP_009231.2:p.Val1831Met
NR_027676.1:n.5564G>A
NM_007294.4:c.5428G>A MANE Select	NP_009225.1:p.Val1810Met
NM_007297.4:c.5287G>A	NP_009228.2:p.Val1763Met
NM_007299.4:c.2042G>A	NP_009230.2:p.Cys681Tyr
NM_007300.4:c.5491G>A	NP_009231.2:p.Val1831Met
NR_027676.2:n.5605G>A