Canonical Allele Identifier: CA1104477084

Gene: PEX1

Linked Data

• dbSNP Id: rs1792894865
• gnomAD v3: 7-92518236-A-AG
• gnomAD v4: 7-92518236-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518239dup , CM000669.2:g.92518239dup	GRCh38
NC_000007.13:g.92147553dup , CM000669.1:g.92147553dup	GRCh37
NC_000007.12:g.91985489dup	NCBI36
NG_008341.1:g.15295dup
NG_008341.2:g.15295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.376dup MANE Select	ENSP00000248633.4:p.Leu126ProfsTer2
ENST00000248633.8:c.376dup	ENSP00000248633.4:p.Leu126ProfsTer2
ENST00000428214.5:c.376dup	ENSP00000394413.1:p.Leu126ProfsTer2
ENST00000438045.5:c.273+3865dup	ENSP00000410438.1:n.273+3865dup
ENST00000484913.5:n.415dup
NM_000466.2:c.376dup	NP_000457.1:p.Leu126ProfsTer2
NM_001282677.1:c.376dup	NP_001269606.1:p.Leu126ProfsTer2
NM_001282678.1:c.-249dup	NP_001269607.1:n.-249dup
XR_242246.3:n.472dup
XR_242246.5:n.423dup
NM_000466.3:c.376dup MANE Select	NP_000457.1:p.Leu126ProfsTer2
NM_001282677.2:c.376dup	NP_001269606.1:p.Leu126ProfsTer2
NM_001282678.2:c.-249dup	NP_001269607.1:n.-249dup