Canonical Allele Identifier: CA1725951588

Gene: PEX1

Linked Data

• dbSNP Id: rs1793070748
• gnomAD v4: 7-92522019-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522025dup , CM000669.2:g.92522025dup	GRCh38
NC_000007.13:g.92151339dup , CM000669.1:g.92151339dup	GRCh37
NC_000007.12:g.91989275dup	NCBI36
NG_008341.1:g.11512dup
NG_008341.2:g.11512dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.273+82dup MANE Select	ENSP00000248633.4:n.273+82dup
ENST00000248633.8:c.273+82dup	ENSP00000248633.4:n.273+82dup
ENST00000428214.5:c.273+82dup	ENSP00000394413.1:n.273+82dup
ENST00000438045.5:c.273+82dup	ENSP00000410438.1:n.273+82dup
ENST00000484913.5:n.277+82dup
NM_000466.2:c.273+82dup	NP_000457.1:n.273+82dup
NM_001282677.1:c.273+82dup	NP_001269606.1:n.273+82dup
NM_001282678.1:c.-387+82dup	NP_001269607.1:n.-387+82dup
XR_242246.3:n.369+82dup
XR_242246.5:n.320+82dup
NM_000466.3:c.273+82dup MANE Select	NP_000457.1:n.273+82dup
NM_001282677.2:c.273+82dup	NP_001269606.1:n.273+82dup
NM_001282678.2:c.-387+82dup	NP_001269607.1:n.-387+82dup