Canonical Allele Identifier: CA10624396
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92517685T>C
GRCh37 chr7:g.92146999T>C
Revel Score:
ENST00000248633 (MANE Select) 0.465
ENST00000428214 0.465
ENST00000545192 0.465
gnomAD v3:
7:92517685 T / C
gnomAD v4:
chr7-92517685-T-C
Joint Max Group AF 0.00003233 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00002004 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517685T>C , CM000669.2:g.92517685T>C GRCh38
NC_000007.13:g.92146999T>C , CM000669.1:g.92146999T>C GRCh37
NC_000007.12:g.91984935T>C NCBI36
NG_008341.1:g.15847A>G
NG_008341.2:g.15847A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.830A>G MANE Select ENSP00000248633.4:p.Gln277Arg
ENST00000248633.8:c.830A>G ENSP00000248633.4:p.Gln277Arg
ENST00000428214.5:c.830A>G ENSP00000394413.1:p.Gln277Arg
ENST00000438045.5:c.274-3718A>G ENSP00000410438.1:n.274-3718A>G
ENST00000484913.5:n.869A>G
NM_000466.2:c.830A>G NP_000457.1:p.Gln277Arg
NM_001282677.1:c.830A>G NP_001269606.1:p.Gln277Arg
NM_001282678.1:c.206A>G NP_001269607.1:p.Gln69Arg
XR_242246.3:n.926A>G
XR_242246.5:n.877A>G
NM_000466.3:c.830A>G MANE Select NP_000457.1:p.Gln277Arg
NM_001282677.2:c.830A>G NP_001269606.1:p.Gln277Arg
NM_001282678.2:c.206A>G NP_001269607.1:p.Gln69Arg
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