Canonical Allele Identifier: CA4341552
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92517794A>G
GRCh38 chr7:g.92517794_92517809delinsGTGATGAGTCAACTGG
GRCh37 chr7:g.92147108A>G
GRCh37 chr7:g.92147108_92147123delinsGTGATGAGTCAACTGG
Revel Score:
ENST00000248633 (MANE Select) 0.254
ENST00000428214 0.254
ENST00000545192 0.254
gnomAD v2:
7:92147108 A / G
gnomAD v3:
7:92517794 A / G
gnomAD v4:
chr7-92517794-A-G
Joint Max Group AF 0.00013815 (EAS)
Exomes Max Group AF 0.00013711 (EAS)
ClinVar RCV:
RCV001339992
RCV002476567
ClinVar Variation:
1036917
dbSNP:
753823218
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517794A>G , CM000669.2:g.92517794A>G GRCh38
NC_000007.13:g.92147108A>G , CM000669.1:g.92147108A>G GRCh37
NC_000007.12:g.91985044A>G NCBI36
NG_008341.1:g.15738T>C
NG_008341.2:g.15738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.721T>C MANE Select ENSP00000248633.4:p.Ser241Pro
ENST00000248633.8:c.721T>C ENSP00000248633.4:p.Ser241Pro
ENST00000428214.5:c.721T>C ENSP00000394413.1:p.Ser241Pro
ENST00000438045.5:c.274-3827T>C ENSP00000410438.1:n.274-3827T>C
ENST00000484913.5:n.760T>C
NM_000466.2:c.721T>C NP_000457.1:p.Ser241Pro
NM_001282677.1:c.721T>C NP_001269606.1:p.Ser241Pro
NM_001282678.1:c.97T>C NP_001269607.1:p.Ser33Pro
XR_242246.3:n.817T>C
XR_242246.5:n.768T>C
NM_000466.3:c.721T>C MANE Select NP_000457.1:p.Ser241Pro
NM_001282677.2:c.721T>C NP_001269606.1:p.Ser241Pro
NM_001282678.2:c.97T>C NP_001269607.1:p.Ser33Pro
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