Canonical Allele Identifier: CA1725938682
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504729T= , CM000669.2:g.92504729T= GRCh38
NC_000007.13:g.92134043T= , CM000669.1:g.92134043T= GRCh37
NC_000007.12:g.91971979T= NCBI36
NG_008341.1:g.28803A=
NG_008341.2:g.28803A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2071+3A= MANE Select ENSP00000248633.4:n.2071+3A=
ENST00000248633.8:c.2071+3A= ENSP00000248633.4:n.2071+3A=
ENST00000428214.5:c.1900+1519A= ENSP00000394413.1:n.1900+1519A=
ENST00000438045.5:c.1105+3A= ENSP00000410438.1:n.1105+3A=
ENST00000484913.5:n.2110+3A=
ENST00000496420.5:n.1747+3A=
NM_000466.2:c.2071+3A= NP_000457.1:n.2071+3A=
NM_001282677.1:c.1900+1519A= NP_001269606.1:n.1900+1519A=
NM_001282678.1:c.1447+3A= NP_001269607.1:n.1447+3A=
XM_005250433.3:c.322+3A= XP_005250490.1:n.322+3A=
XR_242246.3:n.2167+3A=
XM_017012319.2:c.322+3A= XP_016867808.1:n.322+3A=
XR_001744808.2:n.1098+3A=
XR_242246.5:n.2118+3A=
NM_000466.3:c.2071+3A= MANE Select NP_000457.1:n.2071+3A=
NM_001282677.2:c.1900+1519A= NP_001269606.1:n.1900+1519A=
NM_001282678.2:c.1447+3A= NP_001269607.1:n.1447+3A=