Canonical Allele Identifier: CA1725946802
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92510913T= , CM000669.2:g.92510913T= GRCh38
NC_000007.13:g.92140227T= , CM000669.1:g.92140227T= GRCh37
NC_000007.12:g.91978163T= NCBI36
NG_008341.1:g.22619A=
NG_008341.2:g.22619A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1587+31A= MANE Select ENSP00000248633.4:n.1587+31A=
ENST00000248633.8:c.1587+31A= ENSP00000248633.4:n.1587+31A=
ENST00000422866.1:c.488+31A=
ENST00000428214.5:c.1587+31A= ENSP00000394413.1:n.1587+31A=
ENST00000438045.5:c.621+31A= ENSP00000410438.1:n.621+31A=
ENST00000476923.1:n.379A=
ENST00000484913.5:n.1626+31A=
NM_000466.2:c.1587+31A= NP_000457.1:n.1587+31A=
NM_001282677.1:c.1587+31A= NP_001269606.1:n.1587+31A=
NM_001282678.1:c.963+31A= NP_001269607.1:n.963+31A=
XM_005250433.3:c.-80+31A= XP_005250490.1:n.-80+31A=
XR_242246.3:n.1683+31A=
XM_017012319.2:c.-80+31A= XP_016867808.1:n.-80+31A=
XR_001744808.2:n.697+31A=
XR_242246.5:n.1634+31A=
NM_000466.3:c.1587+31A= MANE Select NP_000457.1:n.1587+31A=
NM_001282677.2:c.1587+31A= NP_001269606.1:n.1587+31A=
NM_001282678.2:c.963+31A= NP_001269607.1:n.963+31A=