Canonical Allele Identifier: CA1725938787
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504761T= , CM000669.2:g.92504761T= GRCh38
NC_000007.13:g.92134075T= , CM000669.1:g.92134075T= GRCh37
NC_000007.12:g.91972011T= NCBI36
NG_008341.1:g.28771A=
NG_008341.2:g.28771A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2042A= MANE Select ENSP00000248633.4:p.Asp681=
ENST00000248633.8:c.2042A= ENSP00000248633.4:p.Asp681=
ENST00000428214.5:c.1900+1487A= ENSP00000394413.1:n.1900+1487A=
ENST00000438045.5:c.1076A= ENSP00000410438.1:p.Asp359=
ENST00000484913.5:n.2081A=
ENST00000496420.5:n.1718A=
NM_000466.2:c.2042A= NP_000457.1:p.Asp681=
NM_001282677.1:c.1900+1487A= NP_001269606.1:n.1900+1487A=
NM_001282678.1:c.1418A= NP_001269607.1:p.Asp473=
XM_005250433.3:c.293A= XP_005250490.1:p.Asp98=
XR_242246.3:n.2138A=
XM_017012319.2:c.293A= XP_016867808.1:p.Asp98=
XR_001744808.2:n.1069A=
XR_242246.5:n.2089A=
NM_000466.3:c.2042A= MANE Select NP_000457.1:p.Asp681=
NM_001282677.2:c.1900+1487A= NP_001269606.1:n.1900+1487A=
NM_001282678.2:c.1418A= NP_001269607.1:p.Asp473=