Canonical Allele Identifier: CA2580084751

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1726161
• ClinVar RCV Id: RCV002307132

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804075dup , CM000673.2:g.68804075dup	GRCh38
NC_000011.9:g.68571543dup , CM000673.1:g.68571543dup	GRCh37
NC_000011.8:g.68328119dup	NCBI36
NG_011801.1:g.42860dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.483dup MANE Select	ENSP00000265641.4:p.Pro162ThrfsTer?
ENST00000265641.9:c.483dup	ENSP00000265641.4:p.Pro162ThrfsTer?
ENST00000376618.6:c.483dup	ENSP00000365803.2:p.Pro162ThrfsTer?
ENST00000539743.5:c.483dup	ENSP00000446108.1:p.Pro162ThrfsTer?
ENST00000540367.5:c.483dup	ENSP00000439084.1:p.Pro162ThrfsTer?
NM_001031847.2:c.483dup	NP_001027017.1:p.Pro162ThrfsTer?
NM_001876.3:c.483dup	NP_001867.2:p.Pro162ThrfsTer?
XM_005273762.1:c.579dup	XP_005273819.1:p.Pro194ThrfsTer?
XM_005273763.1:c.579dup	XP_005273820.1:p.Pro194ThrfsTer?
XM_005273762.3:c.579dup	XP_005273819.1:p.Pro194ThrfsTer?
XM_017017220.1:c.483dup	XP_016872709.1:p.Pro162ThrfsTer?
NM_001876.4:c.483dup MANE Select	NP_001867.2:p.Pro162ThrfsTer?
NM_001031847.3:c.483dup	NP_001027017.1:p.Pro162ThrfsTer?