Canonical Allele Identifier: CA456483943
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92518157-G-A
MyVariant Identifiers: chr7:g.92147471G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518157G>A , CM000669.2:g.92518157G>A GRCh38
NC_000007.13:g.92147471G>A , CM000669.1:g.92147471G>A GRCh37
NC_000007.12:g.91985407G>A NCBI36
NG_008341.1:g.15375C>T
NG_008341.2:g.15375C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.456C>T MANE Select ENSP00000248633.4:p.Tyr152=
ENST00000248633.8:c.456C>T ENSP00000248633.4:p.Tyr152=
ENST00000428214.5:c.456C>T ENSP00000394413.1:p.Tyr152=
ENST00000438045.5:c.273+3945C>T ENSP00000410438.1:n.273+3945C>T
ENST00000484913.5:n.495C>T
NM_000466.2:c.456C>T NP_000457.1:p.Tyr152=
NM_001282677.1:c.456C>T NP_001269606.1:p.Tyr152=
NM_001282678.1:c.-169C>T NP_001269607.1:n.-169C>T
XR_242246.3:n.552C>T
XR_242246.5:n.503C>T
NM_000466.3:c.456C>T MANE Select NP_000457.1:p.Tyr152=
NM_001282677.2:c.456C>T NP_001269606.1:p.Tyr152=
NM_001282678.2:c.-169C>T NP_001269607.1:n.-169C>T