Canonical Allele Identifier: CA4341522

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517617C>A , CM000669.2:g.92517617C>A	GRCh38
NC_000007.13:g.92146931C>A , CM000669.1:g.92146931C>A	GRCh37
NC_000007.12:g.91984867C>A	NCBI36
NG_008341.1:g.15915G>T
NG_008341.2:g.15915G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.898G>T MANE Select	NP_000457.1:p.Ala300Ser
ENST00000248633.9:c.898G>T MANE Select	ENSP00000248633.4:p.Ala300Ser
NM_000466.2:c.898G>T	NP_000457.1:p.Ala300Ser
NM_001282677.1:c.898G>T	NP_001269606.1:p.Ala300Ser
NM_001282677.2:c.898G>T	NP_001269606.1:p.Ala300Ser
NM_001282678.1:c.274G>T	NP_001269607.1:p.Ala92Ser
NM_001282678.2:c.274G>T	NP_001269607.1:p.Ala92Ser
ENST00000248633.8:c.898G>T	ENSP00000248633.4:p.Ala300Ser
ENST00000428214.5:c.898G>T	ENSP00000394413.1:p.Ala300Ser
ENST00000438045.5:c.274-3650G>T	ENSP00000410438.1:n.274-3650G>T
ENST00000484913.5:n.937G>T
XM_017012319.2:c.-769G>T	XP_016867808.1:n.-769G>T
XR_001744808.2:n.8G>T
XR_242246.3:n.994G>T
XR_242246.5:n.945G>T