Canonical Allele Identifier: CA1725935135
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499677A= , CM000669.2:g.92499677A= GRCh38
NC_000007.13:g.92128991A= , CM000669.1:g.92128991A= GRCh37
NC_000007.12:g.91966927A= NCBI36
NG_008341.1:g.33855T=
NG_008341.2:g.33855T=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2718+27T= MANE Select ENSP00000248633.4:n.2718+27T=
ENST00000248633.8:c.2718+27T= ENSP00000248633.4:n.2718+27T=
ENST00000428214.5:c.2547+27T= ENSP00000394413.1:n.2547+27T=
ENST00000438045.5:c.1752+27T= ENSP00000410438.1:n.1752+27T=
ENST00000484913.5:n.2757+27T=
ENST00000496420.5:n.2610+27T=
NM_000466.2:c.2718+27T= NP_000457.1:n.2718+27T=
NM_001282677.1:c.2547+27T= NP_001269606.1:n.2547+27T=
NM_001282678.1:c.2094+27T= NP_001269607.1:n.2094+27T=
XM_005250433.3:c.969+27T= XP_005250490.1:n.969+27T=
XR_242246.3:n.2814+27T=
XM_017012319.2:c.969+27T= XP_016867808.1:n.969+27T=
XR_001744808.2:n.1745+27T=
XR_242246.5:n.2765+27T=
NM_000466.3:c.2718+27T= MANE Select NP_000457.1:n.2718+27T=
NM_001282677.2:c.2547+27T= NP_001269606.1:n.2547+27T=
NM_001282678.2:c.2094+27T= NP_001269607.1:n.2094+27T=