Canonical Allele Identifier: CA368183847
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504852C>A , CM000669.2:g.92504852C>A GRCh38
NC_000007.13:g.92134166C>A , CM000669.1:g.92134166C>A GRCh37
NC_000007.12:g.91972102C>A NCBI36
NG_008341.1:g.28680G>T
NG_008341.2:g.28680G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1951G>T MANE Select ENSP00000248633.4:p.Ala651Ser
ENST00000248633.8:c.1951G>T ENSP00000248633.4:p.Ala651Ser
ENST00000428214.5:c.1900+1396G>T ENSP00000394413.1:n.1900+1396G>T
ENST00000438045.5:c.985G>T ENSP00000410438.1:p.Ala329Ser
ENST00000484913.5:n.1990G>T
ENST00000496420.5:n.1627G>T
NM_000466.2:c.1951G>T NP_000457.1:p.Ala651Ser
NM_001282677.1:c.1900+1396G>T NP_001269606.1:n.1900+1396G>T
NM_001282678.1:c.1327G>T NP_001269607.1:p.Ala443Ser
XM_005250433.3:c.202G>T XP_005250490.1:p.Ala68Ser
XR_242246.3:n.2047G>T
XM_017012319.2:c.202G>T XP_016867808.1:p.Ala68Ser
XR_001744808.2:n.978G>T
XR_242246.5:n.1998G>T
NM_000466.3:c.1951G>T MANE Select NP_000457.1:p.Ala651Ser
NM_001282677.2:c.1900+1396G>T NP_001269606.1:n.1900+1396G>T
NM_001282678.2:c.1327G>T NP_001269607.1:p.Ala443Ser