Canonical Allele Identifier: CA368200261
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92517787-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517787G>T , CM000669.2:g.92517787G>T GRCh38
NC_000007.13:g.92147101G>T , CM000669.1:g.92147101G>T GRCh37
NC_000007.12:g.91985037G>T NCBI36
NG_008341.1:g.15745C>A
NG_008341.2:g.15745C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.728C>A MANE Select ENSP00000248633.4:p.Ala243Glu
ENST00000248633.8:c.728C>A ENSP00000248633.4:p.Ala243Glu
ENST00000428214.5:c.728C>A ENSP00000394413.1:p.Ala243Glu
ENST00000438045.5:c.274-3820C>A ENSP00000410438.1:n.274-3820C>A
ENST00000484913.5:n.767C>A
NM_000466.2:c.728C>A NP_000457.1:p.Ala243Glu
NM_001282677.1:c.728C>A NP_001269606.1:p.Ala243Glu
NM_001282678.1:c.104C>A NP_001269607.1:p.Ala35Glu
XR_242246.3:n.824C>A
XR_242246.5:n.775C>A
NM_000466.3:c.728C>A MANE Select NP_000457.1:p.Ala243Glu
NM_001282677.2:c.728C>A NP_001269606.1:p.Ala243Glu
NM_001282678.2:c.104C>A NP_001269607.1:p.Ala35Glu