Canonical Allele Identifier: CA368188680
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92510945T>A , CM000669.2:g.92510945T>A GRCh38
NC_000007.13:g.92140259T>A , CM000669.1:g.92140259T>A GRCh37
NC_000007.12:g.91978195T>A NCBI36
NG_008341.1:g.22587A>T
NG_008341.2:g.22587A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1586A>T MANE Select ENSP00000248633.4:p.Gln529Leu
ENST00000248633.8:c.1586A>T ENSP00000248633.4:p.Gln529Leu
ENST00000422866.1:c.487A>T
ENST00000428214.5:c.1586A>T ENSP00000394413.1:p.Gln529Leu
ENST00000438045.5:c.620A>T ENSP00000410438.1:p.Gln207Leu
ENST00000476923.1:n.347A>T
ENST00000484913.5:n.1625A>T
NM_000466.2:c.1586A>T NP_000457.1:p.Gln529Leu
NM_001282677.1:c.1586A>T NP_001269606.1:p.Gln529Leu
NM_001282678.1:c.962A>T NP_001269607.1:p.Gln321Leu
XM_005250433.3:c.-81A>T XP_005250490.1:n.-81A>T
XR_242246.3:n.1682A>T
XM_017012319.2:c.-81A>T XP_016867808.1:n.-81A>T
XR_001744808.2:n.696A>T
XR_242246.5:n.1633A>T
NM_000466.3:c.1586A>T MANE Select NP_000457.1:p.Gln529Leu
NM_001282677.2:c.1586A>T NP_001269606.1:p.Gln529Leu
NM_001282678.2:c.962A>T NP_001269607.1:p.Gln321Leu