Canonical Allele Identifier: CA2499219061
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1156812
ClinVar RCV Id: RCV001499603
dbSNP Id: rs2116268826

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522254_92522262dup , CM000669.2:g.92522254_92522262dup GRCh38
NC_000007.13:g.92151568_92151576dup , CM000669.1:g.92151568_92151576dup GRCh37
NC_000007.12:g.91989504_91989512dup NCBI36
NG_008341.1:g.11272_11280dup
NG_008341.2:g.11272_11280dup

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-15_130-7dup MANE Select ENSP00000248633.4:n.130-15_130-7dup
ENST00000248633.8:c.130-15_130-7dup ENSP00000248633.4:n.130-15_130-7dup
ENST00000428214.5:c.130-15_130-7dup ENSP00000394413.1:n.130-15_130-7dup
ENST00000438045.5:c.130-15_130-7dup ENSP00000410438.1:n.130-15_130-7dup
ENST00000484913.5:n.134-15_134-7dup
NM_000466.2:c.130-15_130-7dup NP_000457.1:n.130-15_130-7dup
NM_001282677.1:c.130-15_130-7dup NP_001269606.1:n.130-15_130-7dup
NM_001282678.1:c.-530-15_-530-7dup NP_001269607.1:n.-530-15_-530-7dup
XR_242246.3:n.226-15_226-7dup
XR_242246.5:n.177-15_177-7dup
NM_000466.3:c.130-15_130-7dup MANE Select NP_000457.1:n.130-15_130-7dup
NM_001282677.2:c.130-15_130-7dup NP_001269606.1:n.130-15_130-7dup
NM_001282678.2:c.-530-15_-530-7dup NP_001269607.1:n.-530-15_-530-7dup