Canonical Allele Identifier: CA16041176
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371711
dbSNP Id: rs1057517476

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522246C>G , CM000669.2:g.92522246C>G GRCh38
NC_000007.13:g.92151560C>G , CM000669.1:g.92151560C>G GRCh37
NC_000007.12:g.91989496C>G NCBI36
NG_008341.1:g.11286G>C
NG_008341.2:g.11286G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-1G>C MANE Select ENSP00000248633.4:p.=
ENST00000248633.8:c.130-1G>C ENSP00000248633.4:p.=
ENST00000428214.5:n.130-1G>C ENSP00000394413.1:p.=
ENST00000438045.5:c.130-1G>C ENSP00000410438.1:p.=
ENST00000484913.5:n.134-1G>C
NM_000466.2:c.130-1G>C NP_000457.1:p.=
NM_001282677.1:c.130-1G>C NP_001269606.1:p.=
NM_001282678.1:c.-530-1G>C NP_001269607.1:p.=
XR_242246.3:n.226-1G>C
XR_242246.5:n.177-1G>C
NM_000466.3:c.130-1G>C MANE Select NP_000457.1:p.=
NM_001282677.2:c.130-1G>C NP_001269606.1:p.=
NM_001282678.2:c.-530-1G>C NP_001269607.1:p.=