Canonical Allele Identifier: CA576309363
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs747033841
gnomAD v2: 7-92151572-G-A
gnomAD v4: 7-92522258-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522258G>A , CM000669.2:g.92522258G>A GRCh38
NC_000007.13:g.92151572G>A , CM000669.1:g.92151572G>A GRCh37
NC_000007.12:g.91989508G>A NCBI36
NG_008341.1:g.11274C>T
NG_008341.2:g.11274C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-13C>T MANE Select ENSP00000248633.4:n.130-13C>T
ENST00000248633.8:c.130-13C>T ENSP00000248633.4:n.130-13C>T
ENST00000428214.5:c.130-13C>T ENSP00000394413.1:n.130-13C>T
ENST00000438045.5:c.130-13C>T ENSP00000410438.1:n.130-13C>T
ENST00000484913.5:n.134-13C>T
NM_000466.2:c.130-13C>T NP_000457.1:n.130-13C>T
NM_001282677.1:c.130-13C>T NP_001269606.1:n.130-13C>T
NM_001282678.1:c.-530-13C>T NP_001269607.1:n.-530-13C>T
XR_242246.3:n.226-13C>T
XR_242246.5:n.177-13C>T
NM_000466.3:c.130-13C>T MANE Select NP_000457.1:n.130-13C>T
NM_001282677.2:c.130-13C>T NP_001269606.1:n.130-13C>T
NM_001282678.2:c.-530-13C>T NP_001269607.1:n.-530-13C>T