Canonical Allele Identifier: CA10591265
Community Standard Title: NM_007294.4(BRCA1):c.5138T>A (p.Val1713Glu)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063888A>T , CM000679.2:g.43063888A>T GRCh38
NC_000017.10:g.41215905A>T , CM000679.1:g.41215905A>T GRCh37
NC_000017.9:g.38469431A>T NCBI36
NG_005905.2:g.154096T>A , LRG_292:g.154096T>A

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5138T>A MANE Select NP_009225.1:p.Val1713Glu
ENST00000357654.9:c.5138T>A MANE Select ENSP00000350283.3:p.Val1713Glu
NM_007294.3:c.5138T>A , LRG_292t1:c.5138T>A NP_009225.1:p.Val1713Glu
NM_007297.3:c.4997T>A NP_009228.2:p.Val1666Glu
NM_007297.4:c.4997T>A NP_009228.2:p.Val1666Glu
NM_007298.3:c.1826T>A NP_009229.2:p.Val609Glu
NM_007299.3:c.1826T>A NP_009230.2:p.Val609Glu
NM_007299.4:c.1826T>A NP_009230.2:p.Val609Glu
NM_007300.3:c.5201T>A NP_009231.2:p.Val1734Glu
NM_007300.4:c.5201T>A NP_009231.2:p.Val1734Glu
NR_027676.1:n.5274T>A
NR_027676.2:n.5315T>A
ENST00000352993.7:c.1712T>A ENSP00000312236.5:p.Val571Glu
ENST00000357654.7:c.5138T>A ENSP00000350283.3:p.Val1713Glu
ENST00000461221.5:c.*4921T>A ENSP00000418548.1:n.*4921T>A
ENST00000461574.2:c.5135T>A ENSP00000417241.2:p.Val1712Glu
ENST00000468300.5:c.1826T>A ENSP00000417148.1:p.Val609Glu
ENST00000470026.6:c.5138T>A ENSP00000419274.2:p.Val1713Glu
ENST00000471181.6:c.5201T>A ENSP00000418960.2:p.Val1734Glu
ENST00000471181.7:c.5201T>A ENSP00000418960.2:p.Val1734Glu
ENST00000473961.6:c.5012T>A ENSP00000420201.2:p.Val1671Glu
ENST00000476777.6:c.5132T>A ENSP00000417554.2:p.Val1711Glu
ENST00000477152.6:c.5060T>A ENSP00000419988.2:p.Val1687Glu
ENST00000478531.5:c.1826T>A ENSP00000420412.1:p.Val609Glu
ENST00000478531.6:c.1826T>A ENSP00000420412.2:p.Val609Glu
ENST00000484087.5:c.1451T>A ENSP00000419481.1:p.Val484Glu
ENST00000484087.6:c.1700T>A ENSP00000419481.2:p.Val567Glu
ENST00000489037.2:c.5060T>A ENSP00000420781.2:p.Val1687Glu
ENST00000491747.6:c.1826T>A ENSP00000420705.2:p.Val609Glu
ENST00000493795.5:c.4997T>A ENSP00000418775.1:p.Val1666Glu
ENST00000493919.5:c.1688T>A ENSP00000418819.1:p.Val563Glu
ENST00000493919.6:c.1688T>A ENSP00000418819.2:p.Val563Glu
ENST00000494123.6:c.5138T>A ENSP00000419103.2:p.Val1713Glu
ENST00000497488.2:c.4250T>A ENSP00000418986.2:p.Val1417Glu
ENST00000586385.5:c.68T>A ENSP00000465818.1:p.Val23Glu
ENST00000591534.5:c.611T>A ENSP00000467329.1:p.Val204Glu
ENST00000591849.5:c.-98-13698T>A ENSP00000465347.1:n.-98-13698T>A
ENST00000618469.2:c.5138T>A ENSP00000478114.2:p.Val1713Glu
ENST00000634433.2:c.5015T>A ENSP00000489431.2:p.Val1672Glu
ENST00000644379.1:c.1525T>A
ENST00000644379.2:c.5204T>A ENSP00000496570.2:p.Val1735Glu
ENST00000644555.2:c.1688T>A ENSP00000494614.2:p.Val563Glu
ENST00000652672.2:c.4997T>A ENSP00000498906.2:p.Val1666Glu