Canonical Allele Identifier: CA1725937788
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92510946G= , CM000669.2:g.92510946G= GRCh38
NC_000007.13:g.92140260G= , CM000669.1:g.92140260G= GRCh37
NC_000007.12:g.91978196G= NCBI36
NG_008341.1:g.22586C=
NG_008341.2:g.22586C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1585C= MANE Select ENSP00000248633.4:p.Gln529=
ENST00000248633.8:c.1585C= ENSP00000248633.4:p.Gln529=
ENST00000422866.1:c.486C=
ENST00000428214.5:c.1585C= ENSP00000394413.1:p.Gln529=
ENST00000438045.5:c.619C= ENSP00000410438.1:p.Gln207=
ENST00000476923.1:n.346C=
ENST00000484913.5:n.1624C=
NM_000466.2:c.1585C= NP_000457.1:p.Gln529=
NM_001282677.1:c.1585C= NP_001269606.1:p.Gln529=
NM_001282678.1:c.961C= NP_001269607.1:p.Gln321=
XM_005250433.3:c.-82C= XP_005250490.1:n.-82C=
XR_242246.3:n.1681C=
XM_017012319.2:c.-82C= XP_016867808.1:n.-82C=
XR_001744808.2:n.695C=
XR_242246.5:n.1632C=
NM_000466.3:c.1585C= MANE Select NP_000457.1:p.Gln529=
NM_001282677.2:c.1585C= NP_001269606.1:p.Gln529=
NM_001282678.2:c.961C= NP_001269607.1:p.Gln321=