Canonical Allele Identifier: CA1725933458
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496796G= , CM000669.2:g.92496796G= GRCh38
NC_000007.13:g.92126110G= , CM000669.1:g.92126110G= GRCh37
NC_000007.12:g.91964046G= NCBI36
NG_008341.1:g.36736C=
NG_008341.2:g.36736C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2719-19C= MANE Select ENSP00000248633.4:n.2719-19C=
ENST00000248633.8:c.2719-19C= ENSP00000248633.4:n.2719-19C=
ENST00000428214.5:c.2548-19C= ENSP00000394413.1:n.2548-19C=
ENST00000438045.5:c.1753-19C= ENSP00000410438.1:n.1753-19C=
ENST00000484913.5:n.2758-19C=
ENST00000496420.5:n.2611-19C=
NM_000466.2:c.2719-19C= NP_000457.1:n.2719-19C=
NM_001282677.1:c.2548-19C= NP_001269606.1:n.2548-19C=
NM_001282678.1:c.2095-19C= NP_001269607.1:n.2095-19C=
XM_005250433.3:c.970-19C= XP_005250490.1:n.970-19C=
XR_242246.3:n.2815-19C=
XM_017012319.2:c.970-19C= XP_016867808.1:n.970-19C=
XR_001744808.2:n.1746-19C=
XR_242246.5:n.2766-19C=
NM_000466.3:c.2719-19C= MANE Select NP_000457.1:n.2719-19C=
NM_001282677.2:c.2548-19C= NP_001269606.1:n.2548-19C=
NM_001282678.2:c.2095-19C= NP_001269607.1:n.2095-19C=