Canonical Allele Identifier: CA4341372
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493456
dbSNP Id: rs144942544
gnomAD v2: 7-92140266-T-C
gnomAD v3: 7-92510952-T-C
gnomAD v4: 7-92510952-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92510952T>C , CM000669.2:g.92510952T>C GRCh38
NC_000007.13:g.92140266T>C , CM000669.1:g.92140266T>C GRCh37
NC_000007.12:g.91978202T>C NCBI36
NG_008341.1:g.22580A>G
NG_008341.2:g.22580A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1579A>G MANE Select ENSP00000248633.4:p.Thr527Ala
ENST00000248633.8:c.1579A>G ENSP00000248633.4:p.Thr527Ala
ENST00000422866.1:c.480A>G
ENST00000428214.5:c.1579A>G ENSP00000394413.1:p.Thr527Ala
ENST00000438045.5:c.613A>G ENSP00000410438.1:p.Thr205Ala
ENST00000476923.1:n.340A>G
ENST00000484913.5:n.1618A>G
NM_000466.2:c.1579A>G NP_000457.1:p.Thr527Ala
NM_001282677.1:c.1579A>G NP_001269606.1:p.Thr527Ala
NM_001282678.1:c.955A>G NP_001269607.1:p.Thr319Ala
XM_005250433.3:c.-88A>G XP_005250490.1:n.-88A>G
XR_242246.3:n.1675A>G
XM_017012319.2:c.-88A>G XP_016867808.1:n.-88A>G
XR_001744808.2:n.689A>G
XR_242246.5:n.1626A>G
NM_000466.3:c.1579A>G MANE Select NP_000457.1:p.Thr527Ala
NM_001282677.2:c.1579A>G NP_001269606.1:p.Thr527Ala
NM_001282678.2:c.955A>G NP_001269607.1:p.Thr319Ala