Canonical Allele Identifier: CA1514822
Community Standard Title: NM_003310.5(EIPR1):c.292G>T (p.Val98Leu)
Gene: EIPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3257423C>A , CM000664.2:g.3257423C>A GRCh38
NC_000002.11:g.3261194C>A , CM000664.1:g.3261194C>A GRCh37
NC_000002.10:g.3240201C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003310.5:c.292G>T MANE Select NP_003301.1:p.Val98Leu
ENST00000382125.9:c.292G>T MANE Select ENSP00000371559.4:p.Val98Leu
NM_001330530.1:c.373G>T NP_001317459.1:p.Val125Leu
NM_001330530.2:c.373G>T NP_001317459.1:p.Val125Leu
NM_001330530.3:c.373G>T NP_001317459.1:p.Val125Leu
NM_001330531.1:c.-16-43175G>T NP_001317460.1:n.-16-43175G>T
NM_001330531.2:c.-16-43175G>T NP_001317460.1:n.-16-43175G>T
NM_001330531.3:c.-16-43175G>T NP_001317460.1:n.-16-43175G>T
NM_003310.2:c.292G>T NP_003301.1:p.Val98Leu
NM_003310.3:c.292G>T NP_003301.1:p.Val98Leu
NM_003310.4:c.292G>T NP_003301.1:p.Val98Leu
ENST00000382125.8:c.292G>T ENSP00000371559.4:p.Val98Leu
ENST00000398659.8:c.373G>T ENSP00000381652.4:p.Val125Leu
ENST00000406835.6:c.*146G>T ENSP00000385756.2:n.*146G>T
ENST00000435721.5:c.260-43175G>T ENSP00000403043.1:n.260-43175G>T
ENST00000441271.1:c.43-43254G>T ENSP00000393350.1:n.43-43254G>T
ENST00000443925.6:c.292G>T ENSP00000389080.2:p.Val98Leu
ENST00000444776.1:c.394G>T ENSP00000400214.1:p.Val132Leu
ENST00000455162.5:c.127-43175G>T ENSP00000389228.1:n.127-43175G>T
ENST00000462515.1:n.390G>T
ENST00000463662.5:n.366-43175G>T
ENST00000478754.5:n.1651G>T
ENST00000482570.5:n.137G>T
XM_006711893.1:c.-9G>T XP_006711956.1:n.-9G>T
XM_006711893.2:c.-9G>T XP_006711956.1:n.-9G>T
XM_011510383.1:c.409G>T XP_011508685.1:p.Val137Leu
XM_011510383.3:c.409G>T XP_011508685.1:p.Val137Leu
XM_011510384.1:c.373G>T XP_011508686.1:p.Val125Leu
XM_011510385.1:c.328G>T XP_011508687.1:p.Val110Leu
XM_011510385.2:c.328G>T XP_011508687.1:p.Val110Leu
XM_011510386.1:c.205G>T XP_011508688.1:p.Val69Leu
XM_011510387.1:c.-16-43175G>T XP_011508689.1:n.-16-43175G>T
XM_017004818.2:c.-9G>T XP_016860307.1:n.-9G>T