Canonical Allele Identifier: CA220977
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92501562C>T
GRCh37 chr7:g.92130876C>T
Revel Score:
ENST00000438045 0.984
ENST00000248633 (MANE Select) 0.984
ENST00000428214 0.984
gnomAD v2:
7:92130876 C / T
gnomAD v3:
7:92501562 C / T
gnomAD v4:
chr7-92501562-C-T
Joint Max Group AF 0.00067097 (NFE)
Genomes Max Group AF 0.00049448 (NFE)
Exomes Max Group AF 0.0006734 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92501562C>T , CM000669.2:g.92501562C>T GRCh38
NC_000007.13:g.92130876C>T , CM000669.1:g.92130876C>T GRCh37
NC_000007.12:g.91968812C>T NCBI36
NG_008341.1:g.31970G>A
NG_008341.2:g.31970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2528G>A MANE Select ENSP00000248633.4:p.Gly843Asp
ENST00000248633.8:c.2528G>A ENSP00000248633.4:p.Gly843Asp
ENST00000428214.5:c.2357G>A ENSP00000394413.1:p.Gly786Asp
ENST00000438045.5:c.1562G>A ENSP00000410438.1:p.Gly521Asp
ENST00000484913.5:n.2567G>A
ENST00000496420.5:n.2420G>A
NM_000466.2:c.2528G>A NP_000457.1:p.Gly843Asp
NM_001282677.1:c.2357G>A NP_001269606.1:p.Gly786Asp
NM_001282678.1:c.1904G>A NP_001269607.1:p.Gly635Asp
XM_005250433.3:c.779G>A XP_005250490.1:p.Gly260Asp
XR_242246.3:n.2624G>A
XM_017012319.2:c.779G>A XP_016867808.1:p.Gly260Asp
XR_001744808.2:n.1555G>A
XR_242246.5:n.2575G>A
NM_000466.3:c.2528G>A MANE Select NP_000457.1:p.Gly843Asp
NM_001282677.2:c.2357G>A NP_001269606.1:p.Gly786Asp
NM_001282678.2:c.1904G>A NP_001269607.1:p.Gly635Asp
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