Canonical Allele Identifier: CA1725936977
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503071C= , CM000669.2:g.92503071C= GRCh38
NC_000007.13:g.92132385C= , CM000669.1:g.92132385C= GRCh37
NC_000007.12:g.91970321C= NCBI36
NG_008341.1:g.30461G=
NG_008341.2:g.30461G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2196G= MANE Select ENSP00000248633.4:p.Gln732=
ENST00000248633.8:c.2196G= ENSP00000248633.4:p.Gln732=
ENST00000428214.5:c.2025G= ENSP00000394413.1:p.Gln675=
ENST00000438045.5:c.1230G= ENSP00000410438.1:p.Gln410=
ENST00000484913.5:n.2235G=
ENST00000496420.5:n.1872G=
NM_000466.2:c.2196G= NP_000457.1:p.Gln732=
NM_001282677.1:c.2025G= NP_001269606.1:p.Gln675=
NM_001282678.1:c.1572G= NP_001269607.1:p.Gln524=
XM_005250433.3:c.447G= XP_005250490.1:p.Gln149=
XR_242246.3:n.2292G=
XM_017012319.2:c.447G= XP_016867808.1:p.Gln149=
XR_001744808.2:n.1223G=
XR_242246.5:n.2243G=
NM_000466.3:c.2196G= MANE Select NP_000457.1:p.Gln732=
NM_001282677.2:c.2025G= NP_001269606.1:p.Gln675=
NM_001282678.2:c.1572G= NP_001269607.1:p.Gln524=