Canonical Allele Identifier: CA658822688

Gene: PEX1

Linked Data

• ClinVar Variation Id: 559083
• ClinVar RCV Id: RCV000676105
• dbSNP Id: rs1554369227
• MyVariant Identifiers: chr7:g.92126086dup (hg19) ; chr7:g.92496772dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496772dup , CM000669.2:g.92496772dup	GRCh38
NC_000007.13:g.92126086dup , CM000669.1:g.92126086dup	GRCh37
NC_000007.12:g.91964022dup	NCBI36
NG_008341.1:g.36760dup
NG_008341.2:g.36760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2724dup MANE Select	ENSP00000248633.4:p.Glu909ArgfsTer11
ENST00000248633.8:c.2724dup	ENSP00000248633.4:p.Glu909ArgfsTer11
ENST00000428214.5:c.2553dup	ENSP00000394413.1:p.Glu852ArgfsTer11
ENST00000438045.5:c.1758dup	ENSP00000410438.1:p.Glu587ArgfsTer11
ENST00000484913.5:n.2763dup
ENST00000496420.5:n.2616dup
NM_000466.2:c.2724dup	NP_000457.1:p.Glu909ArgfsTer11
NM_001282677.1:c.2553dup	NP_001269606.1:p.Glu852ArgfsTer11
NM_001282678.1:c.2100dup	NP_001269607.1:p.Glu701ArgfsTer11
XM_005250433.3:c.975dup	XP_005250490.1:p.Glu326ArgfsTer11
XR_242246.3:n.2820dup
XM_017012319.2:c.975dup	XP_016867808.1:p.Glu326ArgfsTer11
XR_001744808.2:n.1751dup
XR_242246.5:n.2771dup
NM_000466.3:c.2724dup MANE Select	NP_000457.1:p.Glu909ArgfsTer11
NM_001282677.2:c.2553dup	NP_001269606.1:p.Glu852ArgfsTer11
NM_001282678.2:c.2100dup	NP_001269607.1:p.Glu701ArgfsTer11