Canonical Allele Identifier: CA1725939057
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504866A= , CM000669.2:g.92504866A= GRCh38
NC_000007.13:g.92134180A= , CM000669.1:g.92134180A= GRCh37
NC_000007.12:g.91972116A= NCBI36
NG_008341.1:g.28666T=
NG_008341.2:g.28666T=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1937T= MANE Select ENSP00000248633.4:p.Val646=
ENST00000248633.8:c.1937T= ENSP00000248633.4:p.Val646=
ENST00000428214.5:c.1900+1382T= ENSP00000394413.1:n.1900+1382T=
ENST00000438045.5:c.971T= ENSP00000410438.1:p.Val324=
ENST00000484913.5:n.1976T=
ENST00000496420.5:n.1613T=
NM_000466.2:c.1937T= NP_000457.1:p.Val646=
NM_001282677.1:c.1900+1382T= NP_001269606.1:n.1900+1382T=
NM_001282678.1:c.1313T= NP_001269607.1:p.Val438=
XM_005250433.3:c.188T= XP_005250490.1:p.Val63=
XR_242246.3:n.2033T=
XM_017012319.2:c.188T= XP_016867808.1:p.Val63=
XR_001744808.2:n.964T=
XR_242246.5:n.1984T=
NM_000466.3:c.1937T= MANE Select NP_000457.1:p.Val646=
NM_001282677.2:c.1900+1382T= NP_001269606.1:n.1900+1382T=
NM_001282678.2:c.1313T= NP_001269607.1:p.Val438=