Canonical Allele Identifier: CA161973896

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517967C>T , CM000669.2:g.92517967C>T	GRCh38
NC_000007.13:g.92147281C>T , CM000669.1:g.92147281C>T	GRCh37
NC_000007.12:g.91985217C>T	NCBI36
NG_008341.1:g.15565G>A
NG_008341.2:g.15565G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.548G>A MANE Select	NP_000457.1:p.Arg183Gln
ENST00000248633.9:c.548G>A MANE Select	ENSP00000248633.4:p.Arg183Gln
NM_000466.2:c.548G>A	NP_000457.1:p.Arg183Gln
NM_001282677.1:c.548G>A	NP_001269606.1:p.Arg183Gln
NM_001282677.2:c.548G>A	NP_001269606.1:p.Arg183Gln
NM_001282678.1:c.-77G>A	NP_001269607.1:n.-77G>A
NM_001282678.2:c.-77G>A	NP_001269607.1:n.-77G>A
ENST00000248633.8:c.548G>A	ENSP00000248633.4:p.Arg183Gln
ENST00000428214.5:c.548G>A	ENSP00000394413.1:p.Arg183Gln
ENST00000438045.5:c.274-4000G>A	ENSP00000410438.1:n.274-4000G>A
ENST00000484913.5:n.587G>A
XR_242246.3:n.644G>A
XR_242246.5:n.595G>A