Canonical Allele Identifier: CA1725935151
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499707G= , CM000669.2:g.92499707G= GRCh38
NC_000007.13:g.92129021G= , CM000669.1:g.92129021G= GRCh37
NC_000007.12:g.91966957G= NCBI36
NG_008341.1:g.33825C=
NG_008341.2:g.33825C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2715C= MANE Select ENSP00000248633.4:p.Val905=
ENST00000248633.8:c.2715C= ENSP00000248633.4:p.Val905=
ENST00000428214.5:c.2544C= ENSP00000394413.1:p.Val848=
ENST00000438045.5:c.1749C= ENSP00000410438.1:p.Val583=
ENST00000484913.5:n.2754C=
ENST00000496420.5:n.2607C=
NM_000466.2:c.2715C= NP_000457.1:p.Val905=
NM_001282677.1:c.2544C= NP_001269606.1:p.Val848=
NM_001282678.1:c.2091C= NP_001269607.1:p.Val697=
XM_005250433.3:c.966C= XP_005250490.1:p.Val322=
XR_242246.3:n.2811C=
XM_017012319.2:c.966C= XP_016867808.1:p.Val322=
XR_001744808.2:n.1742C=
XR_242246.5:n.2762C=
NM_000466.3:c.2715C= MANE Select NP_000457.1:p.Val905=
NM_001282677.2:c.2544C= NP_001269606.1:p.Val848=
NM_001282678.2:c.2091C= NP_001269607.1:p.Val697=