Canonical Allele Identifier: CA2573147550

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1454023
• ClinVar RCV Id: RCV001941664
• dbSNP Id: rs2153997913

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781795dup , CM000673.2:g.68781795dup	GRCh38
NC_000011.9:g.68549263dup , CM000673.1:g.68549263dup	GRCh37
NC_000011.8:g.68305839dup	NCBI36
NG_011801.1:g.65137dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1328dup MANE Select	ENSP00000265641.4:p.Leu444ThrfsTer11
ENST00000265641.9:c.1328dup	ENSP00000265641.4:p.Leu444ThrfsTer11
ENST00000376618.6:c.1328dup	ENSP00000365803.2:p.Leu444ThrfsTer11
ENST00000539743.5:c.1328dup	ENSP00000446108.1:p.Leu444ThrfsTer11
ENST00000540367.5:c.1328dup	ENSP00000439084.1:p.Leu444ThrfsTer11
NM_001031847.2:c.1328dup	NP_001027017.1:p.Leu444ThrfsTer11
NM_001876.3:c.1328dup	NP_001867.2:p.Leu444ThrfsTer11
XM_005273762.1:c.1424dup	XP_005273819.1:p.Leu476ThrfsTer11
XM_005273763.1:c.1424dup	XP_005273820.1:p.Leu476ThrfsTer11
XM_005273762.3:c.1424dup	XP_005273819.1:p.Leu476ThrfsTer11
XM_017017220.1:c.1328dup	XP_016872709.1:p.Leu444ThrfsTer11
NM_001876.4:c.1328dup MANE Select	NP_001867.2:p.Leu444ThrfsTer11
NM_001031847.3:c.1328dup	NP_001027017.1:p.Leu444ThrfsTer11