Canonical Allele Identifier: CA1104477339

Gene: PEX1

Linked Data

• dbSNP Id: rs1792944114
• gnomAD v3: 7-92519178-A-ATG
• gnomAD v4: 7-92519178-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519186_92519187dup , CM000669.2:g.92519186_92519187dup	GRCh38
NC_000007.13:g.92148500_92148501dup , CM000669.1:g.92148500_92148501dup	GRCh37
NC_000007.12:g.91986436_91986437dup	NCBI36
NG_008341.1:g.14352_14353dup
NG_008341.2:g.14352_14353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-102_274-101dup MANE Select	ENSP00000248633.4:n.274-102_274-101dup
ENST00000248633.8:c.274-102_274-101dup	ENSP00000248633.4:n.274-102_274-101dup
ENST00000428214.5:c.274-102_274-101dup	ENSP00000394413.1:n.274-102_274-101dup
ENST00000438045.5:c.273+2922_273+2923dup	ENSP00000410438.1:n.273+2922_273+2923dup
ENST00000484913.5:n.278-102_278-101dup
NM_000466.2:c.274-102_274-101dup	NP_000457.1:n.274-102_274-101dup
NM_001282677.1:c.274-102_274-101dup	NP_001269606.1:n.274-102_274-101dup
NM_001282678.1:c.-386-102_-386-101dup	NP_001269607.1:n.-386-102_-386-101dup
XR_242246.3:n.370-102_370-101dup
XR_242246.5:n.321-102_321-101dup
NM_000466.3:c.274-102_274-101dup MANE Select	NP_000457.1:n.274-102_274-101dup
NM_001282677.2:c.274-102_274-101dup	NP_001269606.1:n.274-102_274-101dup
NM_001282678.2:c.-386-102_-386-101dup	NP_001269607.1:n.-386-102_-386-101dup