Canonical Allele Identifier: CA1725938813
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504774C= , CM000669.2:g.92504774C= GRCh38
NC_000007.13:g.92134088C= , CM000669.1:g.92134088C= GRCh37
NC_000007.12:g.91972024C= NCBI36
NG_008341.1:g.28758G=
NG_008341.2:g.28758G=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2029G= MANE Select ENSP00000248633.4:p.Glu677=
ENST00000248633.8:c.2029G= ENSP00000248633.4:p.Glu677=
ENST00000428214.5:n.1900+1474G= ENSP00000394413.1:p.=
ENST00000438045.5:c.1063G= ENSP00000410438.1:p.Glu355=
ENST00000484913.5:n.2068G=
ENST00000496420.5:n.1705G=
NM_000466.2:c.2029G= NP_000457.1:p.Glu677=
NM_001282677.1:c.1900+1474G= NP_001269606.1:p.=
NM_001282678.1:c.1405G= NP_001269607.1:p.Glu469=
XM_005250433.3:c.280G= XP_005250490.1:p.Glu94=
XR_242246.3:n.2125G=
XM_017012319.2:c.280G= XP_016867808.1:p.Glu94=
XR_001744808.2:n.1056G=
XR_242246.5:n.2076G=
NM_000466.3:c.2029G= MANE Select NP_000457.1:p.Glu677=
NM_001282677.2:c.1900+1474G= NP_001269606.1:p.=
NM_001282678.2:c.1405G= NP_001269607.1:p.Glu469=