Canonical Allele Identifier: CA16041166
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371689
dbSNP Id: rs1057517463

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511011dup , CM000669.2:g.92511011dup GRCh38
NC_000007.13:g.92140325dup , CM000669.1:g.92140325dup GRCh37
NC_000007.12:g.91978261dup NCBI36
NG_008341.1:g.22523dup
NG_008341.2:g.22523dup

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1522dup MANE Select ENSP00000248633.4:p.Glu508GlyfsTer6
ENST00000248633.8:c.1522dup ENSP00000248633.4:p.Glu508GlyfsTer6
ENST00000422866.1:n.423dup
ENST00000428214.5:n.1522dup ENSP00000394413.1:p.Glu508GlyfsTer6
ENST00000438045.5:c.556dup ENSP00000410438.1:p.Glu186GlyfsTer6
ENST00000476923.1:n.283dup
ENST00000484913.5:n.1561dup
NM_000466.2:c.1522dup NP_000457.1:p.Glu508GlyfsTer6
NM_001282677.1:c.1522dup NP_001269606.1:p.Glu508GlyfsTer6
NM_001282678.1:c.898dup NP_001269607.1:p.Glu300GlyfsTer6
XM_005250433.3:c.-145dup XP_005250490.1:p.=
XR_242246.3:n.1618dup
XM_017012319.2:c.-145dup XP_016867808.1:p.=
XR_001744808.2:n.632dup
XR_242246.5:n.1569dup
NM_000466.3:c.1522dup MANE Select NP_000457.1:p.Glu508GlyfsTer6
NM_001282677.2:c.1522dup NP_001269606.1:p.Glu508GlyfsTer6
NM_001282678.2:c.898dup NP_001269607.1:p.Glu300GlyfsTer6