Canonical Allele Identifier: CA4341604
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92518145T>C
GRCh37 chr7:g.92147459T>C
gnomAD v2:
7:92147459 T / C
gnomAD v3:
7:92518145 T / C
gnomAD v4:
chr7-92518145-T-C
Joint Max Group AF 0.0087547 (AFR)
Genomes Max Group AF 0.00781423 (AFR)
Exomes Max Group AF 0.00940193 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518145T>C , CM000669.2:g.92518145T>C GRCh38
NC_000007.13:g.92147459T>C , CM000669.1:g.92147459T>C GRCh37
NC_000007.12:g.91985395T>C NCBI36
NG_008341.1:g.15387A>G
NG_008341.2:g.15387A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.468A>G MANE Select ENSP00000248633.4:p.Gln156=
ENST00000248633.8:c.468A>G ENSP00000248633.4:p.Gln156=
ENST00000428214.5:c.468A>G ENSP00000394413.1:p.Gln156=
ENST00000438045.5:c.273+3957A>G ENSP00000410438.1:n.273+3957A>G
ENST00000484913.5:n.507A>G
NM_000466.2:c.468A>G NP_000457.1:p.Gln156=
NM_001282677.1:c.468A>G NP_001269606.1:p.Gln156=
NM_001282678.1:c.-157A>G NP_001269607.1:n.-157A>G
XR_242246.3:n.564A>G
XR_242246.5:n.515A>G
NM_000466.3:c.468A>G MANE Select NP_000457.1:p.Gln156=
NM_001282677.2:c.468A>G NP_001269606.1:p.Gln156=
NM_001282678.2:c.-157A>G NP_001269607.1:n.-157A>G
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