Canonical Allele Identifier: CA10626588
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92528297G>A
GRCh37 chr7:g.92157611G>A
gnomAD v2:
7:92157611 G / A
gnomAD v3:
7:92528297 G / A
gnomAD v4:
chr7-92528297-G-A
Joint Max Group AF 8.1e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV000306024
RCV002058680
ClinVar Variation:
360932
dbSNP:
886062508
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92528297G>A , CM000669.2:g.92528297G>A GRCh38
NC_000007.13:g.92157611G>A , CM000669.1:g.92157611G>A GRCh37
NC_000007.12:g.91995547G>A NCBI36
NG_008341.1:g.5235C>T
NG_008341.2:g.5235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.129+10C>T MANE Select ENSP00000248633.4:n.129+10C>T
ENST00000248633.8:c.129+10C>T ENSP00000248633.4:n.129+10C>T
ENST00000428214.5:c.129+10C>T ENSP00000394413.1:n.129+10C>T
ENST00000438045.5:c.129+10C>T ENSP00000410438.1:n.129+10C>T
ENST00000484913.5:n.133+10C>T
NM_000466.2:c.129+10C>T NP_000457.1:n.129+10C>T
NM_001282677.1:c.129+10C>T NP_001269606.1:n.129+10C>T
NM_001282678.1:c.-531+10C>T NP_001269607.1:n.-531+10C>T
XR_242246.3:n.225+10C>T
XR_242246.5:n.176+10C>T
NM_000466.3:c.129+10C>T MANE Select NP_000457.1:n.129+10C>T
NM_001282677.2:c.129+10C>T NP_001269606.1:n.129+10C>T
NM_001282678.2:c.-531+10C>T NP_001269607.1:n.-531+10C>T
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