Canonical Allele Identifier: CA368178879

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502079C>G , CM000669.2:g.92502079C>G	GRCh38
NC_000007.13:g.92131393C>G , CM000669.1:g.92131393C>G	GRCh37
NC_000007.12:g.91969329C>G	NCBI36
NG_008341.1:g.31453G>C
NG_008341.2:g.31453G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227G>C MANE Select	ENSP00000248633.4:p.Glu743Gln
ENST00000248633.8:c.2227G>C	ENSP00000248633.4:p.Glu743Gln
ENST00000428214.5:c.2056G>C	ENSP00000394413.1:p.Glu686Gln
ENST00000438045.5:c.1261G>C	ENSP00000410438.1:p.Glu421Gln
ENST00000484913.5:n.2266G>C
ENST00000496092.1:n.25G>C
ENST00000496420.5:n.1903G>C
NM_000466.2:c.2227G>C	NP_000457.1:p.Glu743Gln
NM_001282677.1:c.2056G>C	NP_001269606.1:p.Glu686Gln
NM_001282678.1:c.1603G>C	NP_001269607.1:p.Glu535Gln
XM_005250433.3:c.478G>C	XP_005250490.1:p.Glu160Gln
XR_242246.3:n.2323G>C
XM_017012319.2:c.478G>C	XP_016867808.1:p.Glu160Gln
XR_001744808.2:n.1254G>C
XR_242246.5:n.2274G>C
NM_000466.3:c.2227G>C MANE Select	NP_000457.1:p.Glu743Gln
NM_001282677.2:c.2056G>C	NP_001269606.1:p.Glu686Gln
NM_001282678.2:c.1603G>C	NP_001269607.1:p.Glu535Gln