Canonical Allele Identifier: CA16041159
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371693
dbSNP Id: rs1057517464
gnomAD v2: 7-92134196-G-A
gnomAD v4: 7-92504882-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504882G>A , CM000669.2:g.92504882G>A GRCh38
NC_000007.13:g.92134196G>A , CM000669.1:g.92134196G>A GRCh37
NC_000007.12:g.91972132G>A NCBI36
NG_008341.1:g.28650C>T
NG_008341.2:g.28650C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1921C>T MANE Select ENSP00000248633.4:p.Gln641Ter
ENST00000248633.8:c.1921C>T ENSP00000248633.4:p.Gln641Ter
ENST00000428214.5:c.1900+1366C>T ENSP00000394413.1:n.1900+1366C>T
ENST00000438045.5:c.955C>T ENSP00000410438.1:p.Gln319Ter
ENST00000484913.5:n.1960C>T
ENST00000496420.5:n.1597C>T
NM_000466.2:c.1921C>T NP_000457.1:p.Gln641Ter
NM_001282677.1:c.1900+1366C>T NP_001269606.1:n.1900+1366C>T
NM_001282678.1:c.1297C>T NP_001269607.1:p.Gln433Ter
XM_005250433.3:c.172C>T XP_005250490.1:p.Gln58Ter
XR_242246.3:n.2017C>T
XM_017012319.2:c.172C>T XP_016867808.1:p.Gln58Ter
XR_001744808.2:n.948C>T
XR_242246.5:n.1968C>T
NM_000466.3:c.1921C>T MANE Select NP_000457.1:p.Gln641Ter
NM_001282677.2:c.1900+1366C>T NP_001269606.1:n.1900+1366C>T
NM_001282678.2:c.1297C>T NP_001269607.1:p.Gln433Ter