Canonical Allele Identifier: CA1725951638
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522103T= , CM000669.2:g.92522103T= GRCh38
NC_000007.13:g.92151417T= , CM000669.1:g.92151417T= GRCh37
NC_000007.12:g.91989353T= NCBI36
NG_008341.1:g.11429A=
NG_008341.2:g.11429A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.272A= MANE Select ENSP00000248633.4:p.Gln91=
ENST00000248633.8:c.272A= ENSP00000248633.4:p.Gln91=
ENST00000428214.5:c.272A= ENSP00000394413.1:p.Gln91=
ENST00000438045.5:c.272A= ENSP00000410438.1:p.Gln91=
ENST00000484913.5:n.276A=
NM_000466.2:c.272A= NP_000457.1:p.Gln91=
NM_001282677.1:c.272A= NP_001269606.1:p.Gln91=
NM_001282678.1:c.-388A= NP_001269607.1:n.-388A=
XR_242246.3:n.368A=
XR_242246.5:n.319A=
NM_000466.3:c.272A= MANE Select NP_000457.1:p.Gln91=
NM_001282677.2:c.272A= NP_001269606.1:p.Gln91=
NM_001282678.2:c.-388A= NP_001269607.1:n.-388A=