Canonical Allele Identifier: CA381637894

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1394216
• ClinVar RCV Id: RCV001900850
• dbSNP Id: rs2154001160
• MyVariant Identifiers: chr11:g.68579942C>T (hg19) ; chr11:g.68812474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68812474C>T , CM000673.2:g.68812474C>T	GRCh38
NC_000011.9:g.68579942C>T , CM000673.1:g.68579942C>T	GRCh37
NC_000011.8:g.68336518C>T	NCBI36
NG_011801.1:g.34458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.244G>A MANE Select	ENSP00000265641.4:p.Gly82Arg
ENST00000265641.9:c.244G>A	ENSP00000265641.4:p.Gly82Arg
ENST00000376618.6:c.244G>A	ENSP00000365803.2:p.Gly82Arg
ENST00000539743.5:c.244G>A	ENSP00000446108.1:p.Gly82Arg
ENST00000540367.5:c.244G>A	ENSP00000439084.1:p.Gly82Arg
ENST00000561996.1:c.244G>A	ENSP00000457663.1:p.Gly82Arg
ENST00000565318.5:c.244G>A	ENSP00000457826.1:p.Gly82Arg
ENST00000569129.5:c.244G>A	ENSP00000455116.1:p.Gly82Arg
NM_001031847.2:c.244G>A	NP_001027017.1:p.Gly82Arg
NM_001876.3:c.244G>A	NP_001867.2:p.Gly82Arg
XM_005273762.1:c.340G>A	XP_005273819.1:p.Gly114Arg
XM_005273763.1:c.340G>A	XP_005273820.1:p.Gly114Arg
XM_005273762.3:c.340G>A	XP_005273819.1:p.Gly114Arg
XM_017017220.1:c.244G>A	XP_016872709.1:p.Gly82Arg
NM_001876.4:c.244G>A MANE Select	NP_001867.2:p.Gly82Arg
NM_001031847.3:c.244G>A	NP_001027017.1:p.Gly82Arg