Canonical Allele Identifier: CA4341711
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92528434A>G
GRCh37 chr7:g.92157748A>G
Revel Score:
ENST00000438045 0.752
ENST00000248633 (MANE Select) 0.752
ENST00000428214 0.752
ENST00000545192 0.752
gnomAD v2:
7:92157748 A / G
gnomAD v3:
7:92528434 A / G
gnomAD v4:
chr7-92528434-A-G
Joint Max Group AF 0.00005304 (SAS)
Exomes Max Group AF 0.00005582 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92528434A>G , CM000669.2:g.92528434A>G GRCh38
NC_000007.13:g.92157748A>G , CM000669.1:g.92157748A>G GRCh37
NC_000007.12:g.91995684A>G NCBI36
NG_008341.1:g.5098T>C
NG_008341.2:g.5098T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2T>C MANE Select ENSP00000248633.4:p.Met1Thr
ENST00000248633.8:c.2T>C ENSP00000248633.4:p.Met1Thr
ENST00000428214.5:c.2T>C ENSP00000394413.1:p.Met1Thr
ENST00000438045.5:c.2T>C ENSP00000410438.1:p.Met1Thr
ENST00000484913.5:n.6T>C
NM_000466.2:c.2T>C NP_000457.1:p.Met1Thr
NM_001282677.1:c.2T>C NP_001269606.1:p.Met1Thr
NM_001282678.1:c.-658T>C NP_001269607.1:n.-658T>C
XR_242246.3:n.98T>C
XR_242246.5:n.49T>C
NM_000466.3:c.2T>C MANE Select NP_000457.1:p.Met1Thr
NM_001282677.2:c.2T>C NP_001269606.1:p.Met1Thr
NM_001282678.2:c.-658T>C NP_001269607.1:n.-658T>C
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