Canonical Allele Identifier: CA2580077820

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1726168
• ClinVar RCV Id: RCV002307139

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496728dup , CM000669.2:g.92496728dup	GRCh38
NC_000007.13:g.92126042dup , CM000669.1:g.92126042dup	GRCh37
NC_000007.12:g.91963978dup	NCBI36
NG_008341.1:g.36806dup
NG_008341.2:g.36806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2770dup MANE Select	ENSP00000248633.4:p.Asp924GlyfsTer5
ENST00000248633.8:c.2770dup	ENSP00000248633.4:p.Asp924GlyfsTer5
ENST00000428214.5:c.2599dup	ENSP00000394413.1:p.Asp867GlyfsTer5
ENST00000438045.5:c.1804dup	ENSP00000410438.1:p.Asp602GlyfsTer5
ENST00000484913.5:n.2809dup
ENST00000496420.5:n.2662dup
NM_000466.2:c.2770dup	NP_000457.1:p.Asp924GlyfsTer5
NM_001282677.1:c.2599dup	NP_001269606.1:p.Asp867GlyfsTer5
NM_001282678.1:c.2146dup	NP_001269607.1:p.Asp716GlyfsTer5
XM_005250433.3:c.1021dup	XP_005250490.1:p.Asp341GlyfsTer5
XR_242246.3:n.2866dup
XM_017012319.2:c.1021dup	XP_016867808.1:p.Asp341GlyfsTer5
XR_001744808.2:n.1797dup
XR_242246.5:n.2817dup
NM_000466.3:c.2770dup MANE Select	NP_000457.1:p.Asp924GlyfsTer5
NM_001282677.2:c.2599dup	NP_001269606.1:p.Asp867GlyfsTer5
NM_001282678.2:c.2146dup	NP_001269607.1:p.Asp716GlyfsTer5