Canonical Allele Identifier: CA1725938886

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2174078
• ClinVar RCV Id: RCV002598809 ; RCV003475511
• dbSNP Id: rs1792102061

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504803dup , CM000669.2:g.92504803dup	GRCh38
NC_000007.13:g.92134117dup , CM000669.1:g.92134117dup	GRCh37
NC_000007.12:g.91972053dup	NCBI36
NG_008341.1:g.28730dup
NG_008341.2:g.28730dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2001dup MANE Select	ENSP00000248633.4:p.Ala668CysfsTer10
ENST00000248633.8:c.2001dup	ENSP00000248633.4:p.Ala668CysfsTer10
ENST00000428214.5:c.1900+1446dup	ENSP00000394413.1:n.1900+1446dup
ENST00000438045.5:c.1035dup	ENSP00000410438.1:p.Ala346CysfsTer10
ENST00000484913.5:n.2040dup
ENST00000496420.5:n.1677dup
NM_000466.2:c.2001dup	NP_000457.1:p.Ala668CysfsTer10
NM_001282677.1:c.1900+1446dup	NP_001269606.1:n.1900+1446dup
NM_001282678.1:c.1377dup	NP_001269607.1:p.Ala460CysfsTer10
XM_005250433.3:c.252dup	XP_005250490.1:p.Ala85CysfsTer10
XR_242246.3:n.2097dup
XM_017012319.2:c.252dup	XP_016867808.1:p.Ala85CysfsTer10
XR_001744808.2:n.1028dup
XR_242246.5:n.2048dup
NM_000466.3:c.2001dup MANE Select	NP_000457.1:p.Ala668CysfsTer10
NM_001282677.2:c.1900+1446dup	NP_001269606.1:n.1900+1446dup
NM_001282678.2:c.1377dup	NP_001269607.1:p.Ala460CysfsTer10