Canonical Allele Identifier: CA456482941
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1283612002
gnomAD v2: 7-92131292-A-G
gnomAD v4: 7-92501978-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92501978A>G , CM000669.2:g.92501978A>G GRCh38
NC_000007.13:g.92131292A>G , CM000669.1:g.92131292A>G GRCh37
NC_000007.12:g.91969228A>G NCBI36
NG_008341.1:g.31554T>C
NG_008341.2:g.31554T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2328T>C MANE Select ENSP00000248633.4:p.Thr776=
ENST00000248633.8:c.2328T>C ENSP00000248633.4:p.Thr776=
ENST00000428214.5:c.2157T>C ENSP00000394413.1:p.Thr719=
ENST00000438045.5:c.1362T>C ENSP00000410438.1:p.Thr454=
ENST00000484913.5:n.2367T>C
ENST00000496092.1:n.126T>C
ENST00000496420.5:n.2004T>C
NM_000466.2:c.2328T>C NP_000457.1:p.Thr776=
NM_001282677.1:c.2157T>C NP_001269606.1:p.Thr719=
NM_001282678.1:c.1704T>C NP_001269607.1:p.Thr568=
XM_005250433.3:c.579T>C XP_005250490.1:p.Thr193=
XR_242246.3:n.2424T>C
XM_017012319.2:c.579T>C XP_016867808.1:p.Thr193=
XR_001744808.2:n.1355T>C
XR_242246.5:n.2375T>C
NM_000466.3:c.2328T>C MANE Select NP_000457.1:p.Thr776=
NM_001282677.2:c.2157T>C NP_001269606.1:p.Thr719=
NM_001282678.2:c.1704T>C NP_001269607.1:p.Thr568=