Canonical Allele Identifier: CA4341565
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92517878G>A
GRCh37 chr7:g.92147192G>A
Revel Score:
ENST00000248633 (MANE Select) 0.210
ENST00000428214 0.210
ENST00000545192 0.210
gnomAD v2:
7:92147192 G / A
gnomAD v3:
7:92517878 G / A
gnomAD v4:
chr7-92517878-G-A
Joint Max Group AF 0.00575109 (AFR)
Genomes Max Group AF 0.00540267 (AFR)
Exomes Max Group AF 0.00577342 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517878G>A , CM000669.2:g.92517878G>A GRCh38
NC_000007.13:g.92147192G>A , CM000669.1:g.92147192G>A GRCh37
NC_000007.12:g.91985128G>A NCBI36
NG_008341.1:g.15654C>T
NG_008341.2:g.15654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.637C>T MANE Select ENSP00000248633.4:p.Leu213Phe
ENST00000248633.8:c.637C>T ENSP00000248633.4:p.Leu213Phe
ENST00000428214.5:c.637C>T ENSP00000394413.1:p.Leu213Phe
ENST00000438045.5:c.274-3911C>T ENSP00000410438.1:n.274-3911C>T
ENST00000484913.5:n.676C>T
NM_000466.2:c.637C>T NP_000457.1:p.Leu213Phe
NM_001282677.1:c.637C>T NP_001269606.1:p.Leu213Phe
NM_001282678.1:c.13C>T NP_001269607.1:p.Leu5Phe
XR_242246.3:n.733C>T
XR_242246.5:n.684C>T
NM_000466.3:c.637C>T MANE Select NP_000457.1:p.Leu213Phe
NM_001282677.2:c.637C>T NP_001269606.1:p.Leu213Phe
NM_001282678.2:c.13C>T NP_001269607.1:p.Leu5Phe
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