Canonical Allele Identifier: CA161974600
Gene: PEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92518937T>A
GRCh37 chr7:g.92148251T>A
gnomAD v2:
7:92148251 T / A
gnomAD v3:
7:92518937 T / A
gnomAD v4:
chr7-92518937-T-A
Joint Max Group AF 0.00807113 (EAS)
Genomes Max Group AF 0.00466709 (EAS)
Exomes Max Group AF 0.00834301 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518937T>A , CM000669.2:g.92518937T>A GRCh38
NC_000007.13:g.92148251T>A , CM000669.1:g.92148251T>A GRCh37
NC_000007.12:g.91986187T>A NCBI36
NG_008341.1:g.14595A>T
NG_008341.2:g.14595A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.357+58A>T MANE Select ENSP00000248633.4:n.357+58A>T
ENST00000248633.8:c.357+58A>T ENSP00000248633.4:n.357+58A>T
ENST00000428214.5:c.357+58A>T ENSP00000394413.1:n.357+58A>T
ENST00000438045.5:c.273+3165A>T ENSP00000410438.1:n.273+3165A>T
ENST00000484913.5:n.396+23A>T
NM_000466.2:c.357+58A>T NP_000457.1:n.357+58A>T
NM_001282677.1:c.357+58A>T NP_001269606.1:n.357+58A>T
NM_001282678.1:c.-268+23A>T NP_001269607.1:n.-268+23A>T
XR_242246.3:n.453+58A>T
XR_242246.5:n.404+58A>T
NM_000466.3:c.357+58A>T MANE Select NP_000457.1:n.357+58A>T
NM_001282677.2:c.357+58A>T NP_001269606.1:n.357+58A>T
NM_001282678.2:c.-268+23A>T NP_001269607.1:n.-268+23A>T
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