Canonical Allele Identifier: CA368182946
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504755A>T , CM000669.2:g.92504755A>T GRCh38
NC_000007.13:g.92134069A>T , CM000669.1:g.92134069A>T GRCh37
NC_000007.12:g.91972005A>T NCBI36
NG_008341.1:g.28777T>A
NG_008341.2:g.28777T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2048T>A MANE Select ENSP00000248633.4:p.Val683Glu
ENST00000248633.8:c.2048T>A ENSP00000248633.4:p.Val683Glu
ENST00000428214.5:c.1900+1493T>A ENSP00000394413.1:n.1900+1493T>A
ENST00000438045.5:c.1082T>A ENSP00000410438.1:p.Val361Glu
ENST00000484913.5:n.2087T>A
ENST00000496420.5:n.1724T>A
NM_000466.2:c.2048T>A NP_000457.1:p.Val683Glu
NM_001282677.1:c.1900+1493T>A NP_001269606.1:n.1900+1493T>A
NM_001282678.1:c.1424T>A NP_001269607.1:p.Val475Glu
XM_005250433.3:c.299T>A XP_005250490.1:p.Val100Glu
XR_242246.3:n.2144T>A
XM_017012319.2:c.299T>A XP_016867808.1:p.Val100Glu
XR_001744808.2:n.1075T>A
XR_242246.5:n.2095T>A
NM_000466.3:c.2048T>A MANE Select NP_000457.1:p.Val683Glu
NM_001282677.2:c.1900+1493T>A NP_001269606.1:n.1900+1493T>A
NM_001282678.2:c.1424T>A NP_001269607.1:p.Val475Glu