Canonical Allele Identifier: CA1725933419
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496774G= , CM000669.2:g.92496774G= GRCh38
NC_000007.13:g.92126088G= , CM000669.1:g.92126088G= GRCh37
NC_000007.12:g.91964024G= NCBI36
NG_008341.1:g.36758C=
NG_008341.2:g.36758C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2722C= MANE Select ENSP00000248633.4:p.Pro908=
ENST00000248633.8:c.2722C= ENSP00000248633.4:p.Pro908=
ENST00000428214.5:c.2551C= ENSP00000394413.1:p.Pro851=
ENST00000438045.5:c.1756C= ENSP00000410438.1:p.Pro586=
ENST00000484913.5:n.2761C=
ENST00000496420.5:n.2614C=
NM_000466.2:c.2722C= NP_000457.1:p.Pro908=
NM_001282677.1:c.2551C= NP_001269606.1:p.Pro851=
NM_001282678.1:c.2098C= NP_001269607.1:p.Pro700=
XM_005250433.3:c.973C= XP_005250490.1:p.Pro325=
XR_242246.3:n.2818C=
XM_017012319.2:c.973C= XP_016867808.1:p.Pro325=
XR_001744808.2:n.1749C=
XR_242246.5:n.2769C=
NM_000466.3:c.2722C= MANE Select NP_000457.1:p.Pro908=
NM_001282677.2:c.2551C= NP_001269606.1:p.Pro851=
NM_001282678.2:c.2098C= NP_001269607.1:p.Pro700=