Canonical Allele Identifier: CA4341609
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs779213535
gnomAD v2: 7-92147481-T-C
gnomAD v3: 7-92518167-T-C
gnomAD v4: 7-92518167-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518167T>C , CM000669.2:g.92518167T>C GRCh38
NC_000007.13:g.92147481T>C , CM000669.1:g.92147481T>C GRCh37
NC_000007.12:g.91985417T>C NCBI36
NG_008341.1:g.15365A>G
NG_008341.2:g.15365A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.446A>G MANE Select ENSP00000248633.4:p.Gln149Arg
ENST00000248633.8:c.446A>G ENSP00000248633.4:p.Gln149Arg
ENST00000428214.5:c.446A>G ENSP00000394413.1:p.Gln149Arg
ENST00000438045.5:c.273+3935A>G ENSP00000410438.1:n.273+3935A>G
ENST00000484913.5:n.485A>G
NM_000466.2:c.446A>G NP_000457.1:p.Gln149Arg
NM_001282677.1:c.446A>G NP_001269606.1:p.Gln149Arg
NM_001282678.1:c.-179A>G NP_001269607.1:n.-179A>G
XR_242246.3:n.542A>G
XR_242246.5:n.493A>G
NM_000466.3:c.446A>G MANE Select NP_000457.1:p.Gln149Arg
NM_001282677.2:c.446A>G NP_001269606.1:p.Gln149Arg
NM_001282678.2:c.-179A>G NP_001269607.1:n.-179A>G