Canonical Allele Identifier: CA4341502

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517473T>C , CM000669.2:g.92517473T>C	GRCh38
NC_000007.13:g.92146787T>C , CM000669.1:g.92146787T>C	GRCh37
NC_000007.12:g.91984723T>C	NCBI36
NG_008341.1:g.16059A>G
NG_008341.2:g.16059A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1042A>G MANE Select	NP_000457.1:p.Thr348Ala
ENST00000248633.9:c.1042A>G MANE Select	ENSP00000248633.4:p.Thr348Ala
NM_000466.2:c.1042A>G	NP_000457.1:p.Thr348Ala
NM_001282677.1:c.1042A>G	NP_001269606.1:p.Thr348Ala
NM_001282677.2:c.1042A>G	NP_001269606.1:p.Thr348Ala
NM_001282678.1:c.418A>G	NP_001269607.1:p.Thr140Ala
NM_001282678.2:c.418A>G	NP_001269607.1:p.Thr140Ala
ENST00000248633.8:c.1042A>G	ENSP00000248633.4:p.Thr348Ala
ENST00000428214.5:c.1042A>G	ENSP00000394413.1:p.Thr348Ala
ENST00000438045.5:c.274-3506A>G	ENSP00000410438.1:n.274-3506A>G
ENST00000484913.5:n.1081A>G
XM_017012319.2:c.-625A>G	XP_016867808.1:n.-625A>G
XR_001744808.2:n.152A>G
XR_242246.3:n.1138A>G
XR_242246.5:n.1089A>G