Canonical Allele Identifier: CA1725947369
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517461C= , CM000669.2:g.92517461C= GRCh38
NC_000007.13:g.92146775C= , CM000669.1:g.92146775C= GRCh37
NC_000007.12:g.91984711C= NCBI36
NG_008341.1:g.16071G=
NG_008341.2:g.16071G=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1054G= MANE Select ENSP00000248633.4:p.Val352=
ENST00000248633.8:c.1054G= ENSP00000248633.4:p.Val352=
ENST00000428214.5:c.1054G= ENSP00000394413.1:p.Val352=
ENST00000438045.5:c.274-3494G= ENSP00000410438.1:n.274-3494G=
ENST00000484913.5:n.1093G=
NM_000466.2:c.1054G= NP_000457.1:p.Val352=
NM_001282677.1:c.1054G= NP_001269606.1:p.Val352=
NM_001282678.1:c.430G= NP_001269607.1:p.Val144=
XR_242246.3:n.1150G=
XM_017012319.2:c.-613G= XP_016867808.1:n.-613G=
XR_001744808.2:n.164G=
XR_242246.5:n.1101G=
NM_000466.3:c.1054G= MANE Select NP_000457.1:p.Val352=
NM_001282677.2:c.1054G= NP_001269606.1:p.Val352=
NM_001282678.2:c.430G= NP_001269607.1:p.Val144=