Canonical Allele Identifier: CA10591262
Community Standard Title: NM_007294.4(BRCA1):c.5140G>C (p.Val1714Leu)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5140G>C MANE Select NP_009225.1:p.Val1714Leu
ENST00000357654.9:c.5140G>C MANE Select ENSP00000350283.3:p.Val1714Leu
NM_007294.3:c.5140G>C , LRG_292t1:c.5140G>C NP_009225.1:p.Val1714Leu
NM_007297.3:c.4999G>C NP_009228.2:p.Val1667Leu
NM_007297.4:c.4999G>C NP_009228.2:p.Val1667Leu
NM_007298.3:c.1828G>C NP_009229.2:p.Val610Leu
NM_007299.3:c.1828G>C NP_009230.2:p.Val610Leu
NM_007299.4:c.1828G>C NP_009230.2:p.Val610Leu
NM_007300.3:c.5203G>C NP_009231.2:p.Val1735Leu
NM_007300.4:c.5203G>C NP_009231.2:p.Val1735Leu
NR_027676.1:n.5276G>C
NR_027676.2:n.5317G>C
ENST00000352993.7:c.1714G>C ENSP00000312236.5:p.Val572Leu
ENST00000357654.7:c.5140G>C ENSP00000350283.3:p.Val1714Leu
ENST00000461221.5:c.*4923G>C ENSP00000418548.1:n.*4923G>C
ENST00000461574.2:c.5137G>C ENSP00000417241.2:p.Val1713Leu
ENST00000468300.5:c.1828G>C ENSP00000417148.1:p.Val610Leu
ENST00000470026.6:c.5140G>C ENSP00000419274.2:p.Val1714Leu
ENST00000471181.6:c.5203G>C ENSP00000418960.2:p.Val1735Leu
ENST00000471181.7:c.5203G>C ENSP00000418960.2:p.Val1735Leu
ENST00000473961.6:c.5014G>C ENSP00000420201.2:p.Val1672Leu
ENST00000476777.6:c.5134G>C ENSP00000417554.2:p.Val1712Leu
ENST00000477152.6:c.5062G>C ENSP00000419988.2:p.Val1688Leu
ENST00000478531.5:c.1828G>C ENSP00000420412.1:p.Val610Leu
ENST00000478531.6:c.1828G>C ENSP00000420412.2:p.Val610Leu
ENST00000484087.5:c.1453G>C ENSP00000419481.1:p.Val485Leu
ENST00000484087.6:c.1702G>C ENSP00000419481.2:p.Val568Leu
ENST00000489037.2:c.5062G>C ENSP00000420781.2:p.Val1688Leu
ENST00000491747.6:c.1828G>C ENSP00000420705.2:p.Val610Leu
ENST00000493795.5:c.4999G>C ENSP00000418775.1:p.Val1667Leu
ENST00000493919.5:c.1690G>C ENSP00000418819.1:p.Val564Leu
ENST00000493919.6:c.1690G>C ENSP00000418819.2:p.Val564Leu
ENST00000494123.6:c.5140G>C ENSP00000419103.2:p.Val1714Leu
ENST00000497488.2:c.4252G>C ENSP00000418986.2:p.Val1418Leu
ENST00000586385.5:c.70G>C ENSP00000465818.1:p.Val24Leu
ENST00000591534.5:c.613G>C ENSP00000467329.1:p.Val205Leu
ENST00000591849.5:c.-98-13696G>C ENSP00000465347.1:n.-98-13696G>C
ENST00000618469.2:c.5140G>C ENSP00000478114.2:p.Val1714Leu
ENST00000634433.2:c.5017G>C ENSP00000489431.2:p.Val1673Leu
ENST00000644379.1:c.1527G>C
ENST00000644379.2:c.5206G>C ENSP00000496570.2:p.Val1736Leu
ENST00000644555.2:c.1690G>C ENSP00000494614.2:p.Val564Leu
ENST00000652672.2:c.4999G>C ENSP00000498906.2:p.Val1667Leu