Canonical Allele Identifier: CA368184525
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506248C>A , CM000669.2:g.92506248C>A GRCh38
NC_000007.13:g.92135562C>A , CM000669.1:g.92135562C>A GRCh37
NC_000007.12:g.91973498C>A NCBI36
NG_008341.1:g.27284G>T
NG_008341.2:g.27284G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1900G>T MANE Select ENSP00000248633.4:p.Gly634Ter
ENST00000248633.8:c.1900G>T ENSP00000248633.4:p.Gly634Ter
ENST00000422866.1:c.718G>T
ENST00000428214.5:c.1900G>T ENSP00000394413.1:p.Ala634Ser
ENST00000438045.5:c.934G>T ENSP00000410438.1:p.Gly312Ter
ENST00000484913.5:n.1939G>T
ENST00000496420.5:n.1576G>T
NM_000466.2:c.1900G>T NP_000457.1:p.Gly634Ter
NM_001282677.1:c.1900G>T NP_001269606.1:p.Ala634Ser
NM_001282678.1:c.1276G>T NP_001269607.1:p.Gly426Ter
XM_005250433.3:c.151G>T XP_005250490.1:p.Gly51Ter
XR_242246.3:n.1996G>T
XM_017012319.2:c.151G>T XP_016867808.1:p.Gly51Ter
XR_001744808.2:n.927G>T
XR_242246.5:n.1947G>T
NM_000466.3:c.1900G>T MANE Select NP_000457.1:p.Gly634Ter
NM_001282677.2:c.1900G>T NP_001269606.1:p.Ala634Ser
NM_001282678.2:c.1276G>T NP_001269607.1:p.Gly426Ter