Canonical Allele Identifier: CA381637863
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2104292
ClinVar RCV Id: RCV003022459
dbSNP Id: rs1856240911

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68812467A>G , CM000673.2:g.68812467A>G GRCh38
NC_000011.9:g.68579935A>G , CM000673.1:g.68579935A>G GRCh37
NC_000011.8:g.68336511A>G NCBI36
NG_011801.1:g.34465T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.251T>C MANE Select ENSP00000265641.4:p.Ile84Thr
ENST00000265641.9:c.251T>C ENSP00000265641.4:p.Ile84Thr
ENST00000376618.6:c.251T>C ENSP00000365803.2:p.Ile84Thr
ENST00000539743.5:c.251T>C ENSP00000446108.1:p.Ile84Thr
ENST00000540367.5:c.251T>C ENSP00000439084.1:p.Ile84Thr
ENST00000561996.1:c.251T>C ENSP00000457663.1:p.Ile84Thr
ENST00000565318.5:c.251T>C ENSP00000457826.1:p.Ile84Thr
ENST00000569129.5:c.251T>C ENSP00000455116.1:p.Ile84Thr
NM_001031847.2:c.251T>C NP_001027017.1:p.Ile84Thr
NM_001876.3:c.251T>C NP_001867.2:p.Ile84Thr
XM_005273762.1:c.347T>C XP_005273819.1:p.Ile116Thr
XM_005273763.1:c.347T>C XP_005273820.1:p.Ile116Thr
XM_005273762.3:c.347T>C XP_005273819.1:p.Ile116Thr
XM_017017220.1:c.251T>C XP_016872709.1:p.Ile84Thr
NM_001876.4:c.251T>C MANE Select NP_001867.2:p.Ile84Thr
NM_001031847.3:c.251T>C NP_001027017.1:p.Ile84Thr