Canonical Allele Identifier: CA1725937179
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503184T= , CM000669.2:g.92503184T= GRCh38
NC_000007.13:g.92132498T= , CM000669.1:g.92132498T= GRCh37
NC_000007.12:g.91970434T= NCBI36
NG_008341.1:g.30348A=
NG_008341.2:g.30348A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2083A= MANE Select ENSP00000248633.4:p.Met695=
ENST00000248633.8:c.2083A= ENSP00000248633.4:p.Met695=
ENST00000428214.5:c.1912A= ENSP00000394413.1:p.Met638=
ENST00000438045.5:c.1117A= ENSP00000410438.1:p.Met373=
ENST00000484913.5:n.2122A=
ENST00000496420.5:n.1759A=
NM_000466.2:c.2083A= NP_000457.1:p.Met695=
NM_001282677.1:c.1912A= NP_001269606.1:p.Met638=
NM_001282678.1:c.1459A= NP_001269607.1:p.Met487=
XM_005250433.3:c.334A= XP_005250490.1:p.Met112=
XR_242246.3:n.2179A=
XM_017012319.2:c.334A= XP_016867808.1:p.Met112=
XR_001744808.2:n.1110A=
XR_242246.5:n.2130A=
NM_000466.3:c.2083A= MANE Select NP_000457.1:p.Met695=
NM_001282677.2:c.1912A= NP_001269606.1:p.Met638=
NM_001282678.2:c.1459A= NP_001269607.1:p.Met487=