Canonical Allele Identifier: CA4341664
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1018391
ClinVar RCV Id: RCV001317685
dbSNP Id: rs763218526
gnomAD v2: 7-92151426-T-A
gnomAD v3: 7-92522112-T-A
gnomAD v4: 7-92522112-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522112T>A , CM000669.2:g.92522112T>A GRCh38
NC_000007.13:g.92151426T>A , CM000669.1:g.92151426T>A GRCh37
NC_000007.12:g.91989362T>A NCBI36
NG_008341.1:g.11420A>T
NG_008341.2:g.11420A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.263A>T MANE Select ENSP00000248633.4:p.Asn88Ile
ENST00000248633.8:c.263A>T ENSP00000248633.4:p.Asn88Ile
ENST00000428214.5:c.263A>T ENSP00000394413.1:p.Asn88Ile
ENST00000438045.5:c.263A>T ENSP00000410438.1:p.Asn88Ile
ENST00000484913.5:n.267A>T
NM_000466.2:c.263A>T NP_000457.1:p.Asn88Ile
NM_001282677.1:c.263A>T NP_001269606.1:p.Asn88Ile
NM_001282678.1:c.-397A>T NP_001269607.1:n.-397A>T
XR_242246.3:n.359A>T
XR_242246.5:n.310A>T
NM_000466.3:c.263A>T MANE Select NP_000457.1:p.Asn88Ile
NM_001282677.2:c.263A>T NP_001269606.1:p.Asn88Ile
NM_001282678.2:c.-397A>T NP_001269607.1:n.-397A>T