Canonical Allele Identifier: CA1725937155
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503179T= , CM000669.2:g.92503179T= GRCh38
NC_000007.13:g.92132493T= , CM000669.1:g.92132493T= GRCh37
NC_000007.12:g.91970429T= NCBI36
NG_008341.1:g.30353A=
NG_008341.2:g.30353A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2088A= MANE Select ENSP00000248633.4:p.Ile696=
ENST00000248633.8:c.2088A= ENSP00000248633.4:p.Ile696=
ENST00000428214.5:c.1917A= ENSP00000394413.1:p.Ile639=
ENST00000438045.5:c.1122A= ENSP00000410438.1:p.Ile374=
ENST00000484913.5:n.2127A=
ENST00000496420.5:n.1764A=
NM_000466.2:c.2088A= NP_000457.1:p.Ile696=
NM_001282677.1:c.1917A= NP_001269606.1:p.Ile639=
NM_001282678.1:c.1464A= NP_001269607.1:p.Ile488=
XM_005250433.3:c.339A= XP_005250490.1:p.Ile113=
XR_242246.3:n.2184A=
XM_017012319.2:c.339A= XP_016867808.1:p.Ile113=
XR_001744808.2:n.1115A=
XR_242246.5:n.2135A=
NM_000466.3:c.2088A= MANE Select NP_000457.1:p.Ile696=
NM_001282677.2:c.1917A= NP_001269606.1:p.Ile639=
NM_001282678.2:c.1464A= NP_001269607.1:p.Ile488=