Canonical Allele Identifier: CA1725941826
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506874T= , CM000669.2:g.92506874T= GRCh38
NC_000007.13:g.92136188T= , CM000669.1:g.92136188T= GRCh37
NC_000007.12:g.91974124T= NCBI36
NG_008341.1:g.26658A=
NG_008341.2:g.26658A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1803+120A= MANE Select ENSP00000248633.4:n.1803+120A=
ENST00000248633.8:c.1803+120A= ENSP00000248633.4:n.1803+120A=
ENST00000422866.1:c.621+120A=
ENST00000428214.5:c.1803+120A= ENSP00000394413.1:n.1803+120A=
ENST00000438045.5:c.837+120A= ENSP00000410438.1:n.837+120A=
ENST00000484913.5:n.1842+120A=
ENST00000496420.5:n.950A=
NM_000466.2:c.1803+120A= NP_000457.1:n.1803+120A=
NM_001282677.1:c.1803+120A= NP_001269606.1:n.1803+120A=
NM_001282678.1:c.1179+120A= NP_001269607.1:n.1179+120A=
XM_005250433.3:c.54+120A= XP_005250490.1:n.54+120A=
XR_242246.3:n.1899+120A=
XM_017012319.2:c.54+120A= XP_016867808.1:n.54+120A=
XR_001744808.2:n.830+120A=
XR_242246.5:n.1850+120A=
NM_000466.3:c.1803+120A= MANE Select NP_000457.1:n.1803+120A=
NM_001282677.2:c.1803+120A= NP_001269606.1:n.1803+120A=
NM_001282678.2:c.1179+120A= NP_001269607.1:n.1179+120A=