Canonical Allele Identifier: CA1725941950
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506981C= , CM000669.2:g.92506981C= GRCh38
NC_000007.13:g.92136295C= , CM000669.1:g.92136295C= GRCh37
NC_000007.12:g.91974231C= NCBI36
NG_008341.1:g.26551G=
NG_008341.2:g.26551G=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1803+13G= MANE Select ENSP00000248633.4:n.1803+13G=
ENST00000248633.8:c.1803+13G= ENSP00000248633.4:n.1803+13G=
ENST00000422866.1:c.621+13G=
ENST00000428214.5:c.1803+13G= ENSP00000394413.1:n.1803+13G=
ENST00000438045.5:c.837+13G= ENSP00000410438.1:n.837+13G=
ENST00000484913.5:n.1842+13G=
ENST00000496420.5:n.843G=
NM_000466.2:c.1803+13G= NP_000457.1:n.1803+13G=
NM_001282677.1:c.1803+13G= NP_001269606.1:n.1803+13G=
NM_001282678.1:c.1179+13G= NP_001269607.1:n.1179+13G=
XM_005250433.3:c.54+13G= XP_005250490.1:n.54+13G=
XR_242246.3:n.1899+13G=
XM_017012319.2:c.54+13G= XP_016867808.1:n.54+13G=
XR_001744808.2:n.830+13G=
XR_242246.5:n.1850+13G=
NM_000466.3:c.1803+13G= MANE Select NP_000457.1:n.1803+13G=
NM_001282677.2:c.1803+13G= NP_001269606.1:n.1803+13G=
NM_001282678.2:c.1179+13G= NP_001269607.1:n.1179+13G=