Canonical Allele Identifier: CA2580077832

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1726137
• ClinVar RCV Id: RCV002307108

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506336dup , CM000669.2:g.92506336dup	GRCh38
NC_000007.13:g.92135650dup , CM000669.1:g.92135650dup	GRCh37
NC_000007.12:g.91973586dup	NCBI36
NG_008341.1:g.27199dup
NG_008341.2:g.27199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1815dup MANE Select	ENSP00000248633.4:p.Ser606IlefsTer9
ENST00000248633.8:c.1815dup	ENSP00000248633.4:p.Ser606IlefsTer9
ENST00000422866.1:c.633dup
ENST00000428214.5:c.1815dup	ENSP00000394413.1:p.Ser606IlefsTer9
ENST00000438045.5:c.849dup	ENSP00000410438.1:p.Ser284IlefsTer9
ENST00000484913.5:n.1854dup
ENST00000496420.5:n.1491dup
NM_000466.2:c.1815dup	NP_000457.1:p.Ser606IlefsTer9
NM_001282677.1:c.1815dup	NP_001269606.1:p.Ser606IlefsTer9
NM_001282678.1:c.1191dup	NP_001269607.1:p.Ser398IlefsTer9
XM_005250433.3:c.66dup	XP_005250490.1:p.Ser23IlefsTer9
XR_242246.3:n.1911dup
XM_017012319.2:c.66dup	XP_016867808.1:p.Ser23IlefsTer9
XR_001744808.2:n.842dup
XR_242246.5:n.1862dup
NM_000466.3:c.1815dup MANE Select	NP_000457.1:p.Ser606IlefsTer9
NM_001282677.2:c.1815dup	NP_001269606.1:p.Ser606IlefsTer9
NM_001282678.2:c.1191dup	NP_001269607.1:p.Ser398IlefsTer9