Canonical Allele Identifier: CA4341409
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92511683T>G
GRCh37 chr7:g.92140997T>G
Revel Score:
ENST00000438045 0.225
ENST00000248633 (MANE Select) 0.225
ENST00000428214 0.225
ENST00000545192 0.225
gnomAD v2:
7:92140997 T / G
gnomAD v3:
7:92511683 T / G
gnomAD v4:
chr7-92511683-T-G
Joint Max Group AF 0.00372205 (SAS)
Genomes Max Group AF 0.00207624 (SAS)
Exomes Max Group AF 0.00375251 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511683T>G , CM000669.2:g.92511683T>G GRCh38
NC_000007.13:g.92140997T>G , CM000669.1:g.92140997T>G GRCh37
NC_000007.12:g.91978933T>G NCBI36
NG_008341.1:g.21849A>C
NG_008341.2:g.21849A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1380A>C MANE Select ENSP00000248633.4:p.Glu460Asp
ENST00000248633.8:c.1380A>C ENSP00000248633.4:p.Glu460Asp
ENST00000422866.1:c.281A>C
ENST00000428214.5:c.1380A>C ENSP00000394413.1:p.Glu460Asp
ENST00000438045.5:c.414A>C ENSP00000410438.1:p.Glu138Asp
ENST00000476923.1:n.141A>C
ENST00000484913.5:n.1419A>C
NM_000466.2:c.1380A>C NP_000457.1:p.Glu460Asp
NM_001282677.1:c.1380A>C NP_001269606.1:p.Glu460Asp
NM_001282678.1:c.756A>C NP_001269607.1:p.Glu252Asp
XM_005250433.3:c.-287A>C XP_005250490.1:n.-287A>C
XR_242246.3:n.1476A>C
XM_017012319.2:c.-287A>C XP_016867808.1:n.-287A>C
XR_001744808.2:n.490A>C
XR_242246.5:n.1427A>C
NM_000466.3:c.1380A>C MANE Select NP_000457.1:p.Glu460Asp
NM_001282677.2:c.1380A>C NP_001269606.1:p.Glu460Asp
NM_001282678.2:c.756A>C NP_001269607.1:p.Glu252Asp
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