Canonical Allele Identifier: CA10591261

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 631061
• ClinVar RCV Id: RCV000777099 ; RCV001072335 ; RCV001254332 ; RCV001759466
• dbSNP Id: rs1567769244
• MyVariant Identifiers: chr17:g.41215903C>A (hg19) ; chr17:g.43063886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063886C>A , CM000679.2:g.43063886C>A	GRCh38
NC_000017.10:g.41215903C>A , CM000679.1:g.41215903C>A	GRCh37
NC_000017.9:g.38469429C>A	NCBI36
NG_005905.2:g.154098G>T , LRG_292:g.154098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5137G>T	ENSP00000417241.2:p.Val1713Phe
ENST00000470026.6:c.5140G>T	ENSP00000419274.2:p.Val1714Phe
ENST00000473961.6:c.5014G>T	ENSP00000420201.2:p.Val1672Phe
ENST00000476777.6:c.5134G>T	ENSP00000417554.2:p.Val1712Phe
ENST00000477152.6:c.5062G>T	ENSP00000419988.2:p.Val1688Phe
ENST00000478531.6:c.1828G>T	ENSP00000420412.2:p.Val610Phe
ENST00000489037.2:c.5062G>T	ENSP00000420781.2:p.Val1688Phe
ENST00000493919.6:c.1690G>T	ENSP00000418819.2:p.Val564Phe
ENST00000494123.6:c.5140G>T	ENSP00000419103.2:p.Val1714Phe
ENST00000497488.2:c.4252G>T	ENSP00000418986.2:p.Val1418Phe
ENST00000618469.2:c.5140G>T	ENSP00000478114.2:p.Val1714Phe
ENST00000634433.2:c.5017G>T	ENSP00000489431.2:p.Val1673Phe
ENST00000644379.2:c.5206G>T	ENSP00000496570.2:p.Val1736Phe
ENST00000644555.2:c.1690G>T	ENSP00000494614.2:p.Val564Phe
ENST00000652672.2:c.4999G>T	ENSP00000498906.2:p.Val1667Phe
ENST00000484087.6:c.1702G>T	ENSP00000419481.2:p.Val568Phe
ENST00000357654.9:c.5140G>T MANE Select	ENSP00000350283.3:p.Val1714Phe
ENST00000471181.7:c.5203G>T	ENSP00000418960.2:p.Val1735Phe
ENST00000644379.1:c.1527G>T
ENST00000352993.7:c.1714G>T	ENSP00000312236.5:p.Val572Phe
ENST00000357654.7:c.5140G>T	ENSP00000350283.3:p.Val1714Phe
ENST00000461221.5:c.*4923G>T	ENSP00000418548.1:n.*4923G>T
ENST00000468300.5:c.1828G>T	ENSP00000417148.1:p.Val610Phe
ENST00000471181.6:c.5203G>T	ENSP00000418960.2:p.Val1735Phe
ENST00000478531.5:c.1828G>T	ENSP00000420412.1:p.Val610Phe
ENST00000484087.5:c.1453G>T	ENSP00000419481.1:p.Val485Phe
ENST00000491747.6:c.1828G>T	ENSP00000420705.2:p.Val610Phe
ENST00000493795.5:c.4999G>T	ENSP00000418775.1:p.Val1667Phe
ENST00000493919.5:c.1690G>T	ENSP00000418819.1:p.Val564Phe
ENST00000586385.5:c.70G>T	ENSP00000465818.1:p.Val24Phe
ENST00000591534.5:c.613G>T	ENSP00000467329.1:p.Val205Phe
ENST00000591849.5:c.-98-13696G>T	ENSP00000465347.1:n.-98-13696G>T
NM_007294.3:c.5140G>T , LRG_292t1:c.5140G>T	NP_009225.1:p.Val1714Phe
NM_007297.3:c.4999G>T	NP_009228.2:p.Val1667Phe
NM_007298.3:c.1828G>T	NP_009229.2:p.Val610Phe
NM_007299.3:c.1828G>T	NP_009230.2:p.Val610Phe
NM_007300.3:c.5203G>T	NP_009231.2:p.Val1735Phe
NR_027676.1:n.5276G>T
NM_007294.4:c.5140G>T MANE Select	NP_009225.1:p.Val1714Phe
NM_007297.4:c.4999G>T	NP_009228.2:p.Val1667Phe
NM_007299.4:c.1828G>T	NP_009230.2:p.Val610Phe
NM_007300.4:c.5203G>T	NP_009231.2:p.Val1735Phe
NR_027676.2:n.5317G>T