Canonical Allele Identifier: CA1725938652
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504703G= , CM000669.2:g.92504703G= GRCh38
NC_000007.13:g.92134017G= , CM000669.1:g.92134017G= GRCh37
NC_000007.12:g.91971953G= NCBI36
NG_008341.1:g.28829C=
NG_008341.2:g.28829C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2071+29C= MANE Select ENSP00000248633.4:n.2071+29C=
ENST00000248633.8:c.2071+29C= ENSP00000248633.4:n.2071+29C=
ENST00000428214.5:c.1901-1508C= ENSP00000394413.1:n.1901-1508C=
ENST00000438045.5:c.1105+29C= ENSP00000410438.1:n.1105+29C=
ENST00000484913.5:n.2110+29C=
ENST00000496420.5:n.1747+29C=
NM_000466.2:c.2071+29C= NP_000457.1:n.2071+29C=
NM_001282677.1:c.1901-1508C= NP_001269606.1:n.1901-1508C=
NM_001282678.1:c.1447+29C= NP_001269607.1:n.1447+29C=
XM_005250433.3:c.322+29C= XP_005250490.1:n.322+29C=
XR_242246.3:n.2167+29C=
XM_017012319.2:c.322+29C= XP_016867808.1:n.322+29C=
XR_001744808.2:n.1098+29C=
XR_242246.5:n.2118+29C=
NM_000466.3:c.2071+29C= MANE Select NP_000457.1:n.2071+29C=
NM_001282677.2:c.1901-1508C= NP_001269606.1:n.1901-1508C=
NM_001282678.2:c.1447+29C= NP_001269607.1:n.1447+29C=