Canonical Allele Identifier: CA368204886
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92522157A>G
GRCh37 chr7:g.92151471A>G
Revel Score:
ENST00000438045 0.497
ENST00000248633 (MANE Select) 0.497
ENST00000428214 0.497
ENST00000545192 0.497
gnomAD v4:
chr7-92522157-A-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV001891383
ClinVar Variation:
1395444
dbSNP:
1793077054
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522157A>G , CM000669.2:g.92522157A>G GRCh38
NC_000007.13:g.92151471A>G , CM000669.1:g.92151471A>G GRCh37
NC_000007.12:g.91989407A>G NCBI36
NG_008341.1:g.11375T>C
NG_008341.2:g.11375T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.218T>C MANE Select ENSP00000248633.4:p.Val73Ala
ENST00000248633.8:c.218T>C ENSP00000248633.4:p.Val73Ala
ENST00000428214.5:c.218T>C ENSP00000394413.1:p.Val73Ala
ENST00000438045.5:c.218T>C ENSP00000410438.1:p.Val73Ala
ENST00000484913.5:n.222T>C
NM_000466.2:c.218T>C NP_000457.1:p.Val73Ala
NM_001282677.1:c.218T>C NP_001269606.1:p.Val73Ala
NM_001282678.1:c.-442T>C NP_001269607.1:n.-442T>C
XR_242246.3:n.314T>C
XR_242246.5:n.265T>C
NM_000466.3:c.218T>C MANE Select NP_000457.1:p.Val73Ala
NM_001282677.2:c.218T>C NP_001269606.1:p.Val73Ala
NM_001282678.2:c.-442T>C NP_001269607.1:n.-442T>C
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