Canonical Allele Identifier: CA1725951706
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522275G= , CM000669.2:g.92522275G= GRCh38
NC_000007.13:g.92151589G= , CM000669.1:g.92151589G= GRCh37
NC_000007.12:g.91989525G= NCBI36
NG_008341.1:g.11257C=
NG_008341.2:g.11257C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-30C= MANE Select ENSP00000248633.4:n.130-30C=
ENST00000248633.8:c.130-30C= ENSP00000248633.4:n.130-30C=
ENST00000428214.5:c.130-30C= ENSP00000394413.1:n.130-30C=
ENST00000438045.5:c.130-30C= ENSP00000410438.1:n.130-30C=
ENST00000484913.5:n.134-30C=
NM_000466.2:c.130-30C= NP_000457.1:n.130-30C=
NM_001282677.1:c.130-30C= NP_001269606.1:n.130-30C=
NM_001282678.1:c.-530-30C= NP_001269607.1:n.-530-30C=
XR_242246.3:n.226-30C=
XR_242246.5:n.177-30C=
NM_000466.3:c.130-30C= MANE Select NP_000457.1:n.130-30C=
NM_001282677.2:c.130-30C= NP_001269606.1:n.130-30C=
NM_001282678.2:c.-530-30C= NP_001269607.1:n.-530-30C=