Canonical Allele Identifier: CA16041173
Gene: PEX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371714
dbSNP Id: rs1057517479

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518256C>A , CM000669.2:g.92518256C>A GRCh38
NC_000007.13:g.92147570C>A , CM000669.1:g.92147570C>A GRCh37
NC_000007.12:g.91985506C>A NCBI36
NG_008341.1:g.15276G>T

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.358-1G>T VV NP_000457.1:p.=
NM_001282677.1:c.358-1G>T VV NP_001269606.1:p.=
NM_001282678.1:c.-267-1G>T VV NP_001269607.1:p.=
XR_242246.3:n.454-1G>T
XR_242246.5:n.405-1G>T
ENST00000248633.8:c.358-1G>T ENSP00000248633.4:p.=
ENST00000428214.5:n.358-1G>T ENSP00000394413.1:p.=
ENST00000438045.5:c.273+3846G>T ENSP00000410438.1:p.=
ENST00000484913.5:n.397-1G>T