Canonical Allele Identifier: CA1725948470
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518161G= , CM000669.2:g.92518161G= GRCh38
NC_000007.13:g.92147475G= , CM000669.1:g.92147475G= GRCh37
NC_000007.12:g.91985411G= NCBI36
NG_008341.1:g.15371C=
NG_008341.2:g.15371C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.452C= MANE Select ENSP00000248633.4:p.Thr151=
ENST00000248633.8:c.452C= ENSP00000248633.4:p.Thr151=
ENST00000428214.5:c.452C= ENSP00000394413.1:p.Thr151=
ENST00000438045.5:c.273+3941C= ENSP00000410438.1:n.273+3941C=
ENST00000484913.5:n.491C=
NM_000466.2:c.452C= NP_000457.1:p.Thr151=
NM_001282677.1:c.452C= NP_001269606.1:p.Thr151=
NM_001282678.1:c.-173C= NP_001269607.1:n.-173C=
XR_242246.3:n.548C=
XR_242246.5:n.499C=
NM_000466.3:c.452C= MANE Select NP_000457.1:p.Thr151=
NM_001282677.2:c.452C= NP_001269606.1:p.Thr151=
NM_001282678.2:c.-173C= NP_001269607.1:n.-173C=