Canonical Allele Identifier: CA2580615753

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1694466
• ClinVar RCV Id: RCV002262187
• dbSNP Id: rs2154000546

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804012_68804013del , CM000673.2:g.68804012_68804013del	GRCh38
NC_000011.9:g.68571480_68571481del , CM000673.1:g.68571480_68571481del	GRCh37
NC_000011.8:g.68328056_68328057del	NCBI36
NG_011801.1:g.42921_42922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.544_545del MANE Select	ENSP00000265641.4:p.Thr182CysfsTer?
ENST00000265641.9:c.544_545del	ENSP00000265641.4:p.Thr182CysfsTer?
ENST00000376618.6:c.544_545del	ENSP00000365803.2:p.Thr182CysfsTer?
ENST00000539743.5:c.544_545del	ENSP00000446108.1:p.Thr182CysfsTer?
ENST00000540367.5:c.544_545del	ENSP00000439084.1:p.Thr182CysfsTer?
NM_001031847.2:c.544_545del	NP_001027017.1:p.Thr182CysfsTer?
NM_001876.3:c.544_545del	NP_001867.2:p.Thr182CysfsTer?
XM_005273762.1:c.640_641del	XP_005273819.1:p.Thr214CysfsTer?
XM_005273763.1:c.640_641del	XP_005273820.1:p.Thr214CysfsTer?
XM_005273762.3:c.640_641del	XP_005273819.1:p.Thr214CysfsTer?
XM_017017220.1:c.544_545del	XP_016872709.1:p.Thr182CysfsTer?
NM_001876.4:c.544_545del MANE Select	NP_001867.2:p.Thr182CysfsTer?
NM_001031847.3:c.544_545del	NP_001027017.1:p.Thr182CysfsTer?