Canonical Allele Identifier: CA4341550
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92517791C>T
GRCh37 chr7:g.92147105C>T
Revel Score:
ENST00000248633 (MANE Select) 0.589
ENST00000428214 0.589
ENST00000545192 0.589
gnomAD v2:
7:92147105 C / T
gnomAD v3:
7:92517791 C / T
gnomAD v4:
chr7-92517791-C-T
Joint Max Group AF 0.00001594 (NFE)
Exomes Max Group AF 0.00001693 (NFE)
ClinVar RCV:
RCV001159300
RCV002557363
ClinVar Variation:
908690
dbSNP:
764044654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517791C>T , CM000669.2:g.92517791C>T GRCh38
NC_000007.13:g.92147105C>T , CM000669.1:g.92147105C>T GRCh37
NC_000007.12:g.91985041C>T NCBI36
NG_008341.1:g.15741G>A
NG_008341.2:g.15741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.724G>A MANE Select ENSP00000248633.4:p.Val242Ile
ENST00000248633.8:c.724G>A ENSP00000248633.4:p.Val242Ile
ENST00000428214.5:c.724G>A ENSP00000394413.1:p.Val242Ile
ENST00000438045.5:c.274-3824G>A ENSP00000410438.1:n.274-3824G>A
ENST00000484913.5:n.763G>A
NM_000466.2:c.724G>A NP_000457.1:p.Val242Ile
NM_001282677.1:c.724G>A NP_001269606.1:p.Val242Ile
NM_001282678.1:c.100G>A NP_001269607.1:p.Val34Ile
XR_242246.3:n.820G>A
XR_242246.5:n.771G>A
NM_000466.3:c.724G>A MANE Select NP_000457.1:p.Val242Ile
NM_001282677.2:c.724G>A NP_001269606.1:p.Val242Ile
NM_001282678.2:c.100G>A NP_001269607.1:p.Val34Ile
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