Canonical Allele Identifier: CA161973304
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1356733
ClinVar RCV Id: RCV001870245
dbSNP Id: rs540780825
gnomAD v2: 7-92146688-C-A
gnomAD v4: 7-92517374-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517374C>A , CM000669.2:g.92517374C>A GRCh38
NC_000007.13:g.92146688C>A , CM000669.1:g.92146688C>A GRCh37
NC_000007.12:g.91984624C>A NCBI36
NG_008341.1:g.16158G>T
NG_008341.2:g.16158G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1141G>T MANE Select ENSP00000248633.4:p.Ala381Ser
ENST00000248633.8:c.1141G>T ENSP00000248633.4:p.Ala381Ser
ENST00000422866.1:c.42G>T
ENST00000428214.5:c.1141G>T ENSP00000394413.1:p.Ala381Ser
ENST00000438045.5:c.274-3407G>T ENSP00000410438.1:n.274-3407G>T
ENST00000484913.5:n.1180G>T
NM_000466.2:c.1141G>T NP_000457.1:p.Ala381Ser
NM_001282677.1:c.1141G>T NP_001269606.1:p.Ala381Ser
NM_001282678.1:c.517G>T NP_001269607.1:p.Ala173Ser
XR_242246.3:n.1237G>T
XM_017012319.2:c.-526G>T XP_016867808.1:n.-526G>T
XR_001744808.2:n.251G>T
XR_242246.5:n.1188G>T
NM_000466.3:c.1141G>T MANE Select NP_000457.1:p.Ala381Ser
NM_001282677.2:c.1141G>T NP_001269606.1:p.Ala381Ser
NM_001282678.2:c.517G>T NP_001269607.1:p.Ala173Ser