Canonical Allele Identifier: CA1725941025
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506231T= , CM000669.2:g.92506231T= GRCh38
NC_000007.13:g.92135545T= , CM000669.1:g.92135545T= GRCh37
NC_000007.12:g.91973481T= NCBI36
NG_008341.1:g.27301A=
NG_008341.2:g.27301A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1900+17A= MANE Select ENSP00000248633.4:n.1900+17A=
ENST00000248633.8:c.1900+17A= ENSP00000248633.4:n.1900+17A=
ENST00000422866.1:c.718+17A=
ENST00000428214.5:c.1900+17A= ENSP00000394413.1:n.1900+17A=
ENST00000438045.5:c.934+17A= ENSP00000410438.1:n.934+17A=
ENST00000484913.5:n.1939+17A=
ENST00000496420.5:n.1576+17A=
NM_000466.2:c.1900+17A= NP_000457.1:n.1900+17A=
NM_001282677.1:c.1900+17A= NP_001269606.1:n.1900+17A=
NM_001282678.1:c.1276+17A= NP_001269607.1:n.1276+17A=
XM_005250433.3:c.151+17A= XP_005250490.1:n.151+17A=
XR_242246.3:n.1996+17A=
XM_017012319.2:c.151+17A= XP_016867808.1:n.151+17A=
XR_001744808.2:n.927+17A=
XR_242246.5:n.1947+17A=
NM_000466.3:c.1900+17A= MANE Select NP_000457.1:n.1900+17A=
NM_001282677.2:c.1900+17A= NP_001269606.1:n.1900+17A=
NM_001282678.2:c.1276+17A= NP_001269607.1:n.1276+17A=