Canonical Allele Identifier: CA368202896
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92519005-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92519005C>A , CM000669.2:g.92519005C>A GRCh38
NC_000007.13:g.92148319C>A , CM000669.1:g.92148319C>A GRCh37
NC_000007.12:g.91986255C>A NCBI36
NG_008341.1:g.14527G>T
NG_008341.2:g.14527G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.347G>T MANE Select ENSP00000248633.4:p.Trp116Leu
ENST00000248633.8:c.347G>T ENSP00000248633.4:p.Trp116Leu
ENST00000428214.5:c.347G>T ENSP00000394413.1:p.Trp116Leu
ENST00000438045.5:c.273+3097G>T ENSP00000410438.1:n.273+3097G>T
ENST00000484913.5:n.351G>T
NM_000466.2:c.347G>T NP_000457.1:p.Trp116Leu
NM_001282677.1:c.347G>T NP_001269606.1:p.Trp116Leu
NM_001282678.1:c.-313G>T NP_001269607.1:n.-313G>T
XR_242246.3:n.443G>T
XR_242246.5:n.394G>T
NM_000466.3:c.347G>T MANE Select NP_000457.1:p.Trp116Leu
NM_001282677.2:c.347G>T NP_001269606.1:p.Trp116Leu
NM_001282678.2:c.-313G>T NP_001269607.1:n.-313G>T