Canonical Allele Identifier: CA4341380
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92511015A>G
GRCh37 chr7:g.92140329A>G
Revel Score:
ENST00000438045 0.358
ENST00000248633 (MANE Select) 0.358
ENST00000428214 0.358
ENST00000545192 0.358
gnomAD v2:
7:92140329 A / G
gnomAD v3:
7:92511015 A / G
gnomAD v4:
chr7-92511015-A-G
Joint Max Group AF 0.00001254 (NFE)
Exomes Max Group AF 0.00001249 (NFE)
ClinVar RCV:
RCV001982493
ClinVar Variation:
1444588
dbSNP:
778220793
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511015A>G , CM000669.2:g.92511015A>G GRCh38
NC_000007.13:g.92140329A>G , CM000669.1:g.92140329A>G GRCh37
NC_000007.12:g.91978265A>G NCBI36
NG_008341.1:g.22517T>C
NG_008341.2:g.22517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1516T>C MANE Select ENSP00000248633.4:p.Ser506Pro
ENST00000248633.8:c.1516T>C ENSP00000248633.4:p.Ser506Pro
ENST00000422866.1:c.417T>C
ENST00000428214.5:c.1516T>C ENSP00000394413.1:p.Ser506Pro
ENST00000438045.5:c.550T>C ENSP00000410438.1:p.Ser184Pro
ENST00000476923.1:n.277T>C
ENST00000484913.5:n.1555T>C
NM_000466.2:c.1516T>C NP_000457.1:p.Ser506Pro
NM_001282677.1:c.1516T>C NP_001269606.1:p.Ser506Pro
NM_001282678.1:c.892T>C NP_001269607.1:p.Ser298Pro
XM_005250433.3:c.-151T>C XP_005250490.1:n.-151T>C
XR_242246.3:n.1612T>C
XM_017012319.2:c.-151T>C XP_016867808.1:n.-151T>C
XR_001744808.2:n.626T>C
XR_242246.5:n.1563T>C
NM_000466.3:c.1516T>C MANE Select NP_000457.1:p.Ser506Pro
NM_001282677.2:c.1516T>C NP_001269606.1:p.Ser506Pro
NM_001282678.2:c.892T>C NP_001269607.1:p.Ser298Pro
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