Canonical Allele Identifier: CA10591263
Community Standard Title: NM_007294.4(BRCA1):c.5140G>A (p.Val1714Ile)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5140G>A MANE Select NP_009225.1:p.Val1714Ile
ENST00000357654.9:c.5140G>A MANE Select ENSP00000350283.3:p.Val1714Ile
NM_007294.3:c.5140G>A , LRG_292t1:c.5140G>A NP_009225.1:p.Val1714Ile
NM_007297.3:c.4999G>A NP_009228.2:p.Val1667Ile
NM_007297.4:c.4999G>A NP_009228.2:p.Val1667Ile
NM_007298.3:c.1828G>A NP_009229.2:p.Val610Ile
NM_007299.3:c.1828G>A NP_009230.2:p.Val610Ile
NM_007299.4:c.1828G>A NP_009230.2:p.Val610Ile
NM_007300.3:c.5203G>A NP_009231.2:p.Val1735Ile
NM_007300.4:c.5203G>A NP_009231.2:p.Val1735Ile
NR_027676.1:n.5276G>A
NR_027676.2:n.5317G>A
ENST00000352993.7:c.1714G>A ENSP00000312236.5:p.Val572Ile
ENST00000357654.7:c.5140G>A ENSP00000350283.3:p.Val1714Ile
ENST00000461221.5:c.*4923G>A ENSP00000418548.1:n.*4923G>A
ENST00000461574.2:c.5137G>A ENSP00000417241.2:p.Val1713Ile
ENST00000468300.5:c.1828G>A ENSP00000417148.1:p.Val610Ile
ENST00000470026.6:c.5140G>A ENSP00000419274.2:p.Val1714Ile
ENST00000471181.6:c.5203G>A ENSP00000418960.2:p.Val1735Ile
ENST00000471181.7:c.5203G>A ENSP00000418960.2:p.Val1735Ile
ENST00000473961.6:c.5014G>A ENSP00000420201.2:p.Val1672Ile
ENST00000476777.6:c.5134G>A ENSP00000417554.2:p.Val1712Ile
ENST00000477152.6:c.5062G>A ENSP00000419988.2:p.Val1688Ile
ENST00000478531.5:c.1828G>A ENSP00000420412.1:p.Val610Ile
ENST00000478531.6:c.1828G>A ENSP00000420412.2:p.Val610Ile
ENST00000484087.5:c.1453G>A ENSP00000419481.1:p.Val485Ile
ENST00000484087.6:c.1702G>A ENSP00000419481.2:p.Val568Ile
ENST00000489037.2:c.5062G>A ENSP00000420781.2:p.Val1688Ile
ENST00000491747.6:c.1828G>A ENSP00000420705.2:p.Val610Ile
ENST00000493795.5:c.4999G>A ENSP00000418775.1:p.Val1667Ile
ENST00000493919.5:c.1690G>A ENSP00000418819.1:p.Val564Ile
ENST00000493919.6:c.1690G>A ENSP00000418819.2:p.Val564Ile
ENST00000494123.6:c.5140G>A ENSP00000419103.2:p.Val1714Ile
ENST00000497488.2:c.4252G>A ENSP00000418986.2:p.Val1418Ile
ENST00000586385.5:c.70G>A ENSP00000465818.1:p.Val24Ile
ENST00000591534.5:c.613G>A ENSP00000467329.1:p.Val205Ile
ENST00000591849.5:c.-98-13696G>A ENSP00000465347.1:n.-98-13696G>A
ENST00000618469.2:c.5140G>A ENSP00000478114.2:p.Val1714Ile
ENST00000634433.2:c.5017G>A ENSP00000489431.2:p.Val1673Ile
ENST00000644379.1:c.1527G>A
ENST00000644379.2:c.5206G>A ENSP00000496570.2:p.Val1736Ile
ENST00000644555.2:c.1690G>A ENSP00000494614.2:p.Val564Ile
ENST00000652672.2:c.4999G>A ENSP00000498906.2:p.Val1667Ile