Canonical Allele Identifier: CA2580084759

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1726858
• ClinVar RCV Id: RCV002310542

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68807565_68807566insAAGAT , CM000673.2:g.68807565_68807566insAAGAT	GRCh38
NC_000011.9:g.68575033_68575034insAAGAT , CM000673.1:g.68575033_68575034insAAGAT	GRCh37
NC_000011.8:g.68331609_68331610insAAGAT	NCBI36
NG_011801.1:g.39369_39370insTTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.357_358insTTATC MANE Select	ENSP00000265641.4:p.Val120LeufsTer9
ENST00000265641.9:c.357_358insTTATC	ENSP00000265641.4:p.Val120LeufsTer9
ENST00000376618.6:c.357_358insTTATC	ENSP00000365803.2:p.Val120LeufsTer9
ENST00000539743.5:c.357_358insTTATC	ENSP00000446108.1:p.Val120LeufsTer9
ENST00000540367.5:c.357_358insTTATC	ENSP00000439084.1:p.Val120LeufsTer9
ENST00000565318.5:c.357_358insTTATC	ENSP00000457826.1:p.Val120LeufsTer9
NM_001031847.2:c.357_358insTTATC	NP_001027017.1:p.Val120LeufsTer9
NM_001876.3:c.357_358insTTATC	NP_001867.2:p.Val120LeufsTer9
XM_005273762.1:c.453_454insTTATC	XP_005273819.1:p.Val152LeufsTer9
XM_005273763.1:c.453_454insTTATC	XP_005273820.1:p.Val152LeufsTer9
XM_005273762.3:c.453_454insTTATC	XP_005273819.1:p.Val152LeufsTer9
XM_017017220.1:c.357_358insTTATC	XP_016872709.1:p.Val120LeufsTer9
NM_001876.4:c.357_358insTTATC MANE Select	NP_001867.2:p.Val120LeufsTer9
NM_001031847.3:c.357_358insTTATC	NP_001027017.1:p.Val120LeufsTer9