Canonical Allele Identifier: CA345732274

Gene: EIPR1

Genomic Alleles

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

Transcript Alleles

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