Canonical Allele Identifier: CA368182924
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2094567
ClinVar RCV Id: RCV003010320

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504753G>A , CM000669.2:g.92504753G>A GRCh38
NC_000007.13:g.92134067G>A , CM000669.1:g.92134067G>A GRCh37
NC_000007.12:g.91972003G>A NCBI36
NG_008341.1:g.28779C>T
NG_008341.2:g.28779C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2050C>T MANE Select ENSP00000248633.4:p.Gln684Ter
ENST00000248633.8:c.2050C>T ENSP00000248633.4:p.Gln684Ter
ENST00000428214.5:c.1900+1495C>T ENSP00000394413.1:n.1900+1495C>T
ENST00000438045.5:c.1084C>T ENSP00000410438.1:p.Gln362Ter
ENST00000484913.5:n.2089C>T
ENST00000496420.5:n.1726C>T
NM_000466.2:c.2050C>T NP_000457.1:p.Gln684Ter
NM_001282677.1:c.1900+1495C>T NP_001269606.1:n.1900+1495C>T
NM_001282678.1:c.1426C>T NP_001269607.1:p.Gln476Ter
XM_005250433.3:c.301C>T XP_005250490.1:p.Gln101Ter
XR_242246.3:n.2146C>T
XM_017012319.2:c.301C>T XP_016867808.1:p.Gln101Ter
XR_001744808.2:n.1077C>T
XR_242246.5:n.2097C>T
NM_000466.3:c.2050C>T MANE Select NP_000457.1:p.Gln684Ter
NM_001282677.2:c.1900+1495C>T NP_001269606.1:n.1900+1495C>T
NM_001282678.2:c.1426C>T NP_001269607.1:p.Gln476Ter