Canonical Allele Identifier: CA6152742
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2201103
dbSNP Id: rs771342676

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68812495C>T , CM000673.2:g.68812495C>T GRCh38
NC_000011.9:g.68579963C>T , CM000673.1:g.68579963C>T GRCh37
NC_000011.8:g.68336539C>T NCBI36
NG_011801.1:g.34437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.223G>A MANE Select ENSP00000265641.4:p.Ala75Thr
ENST00000265641.9:c.223G>A ENSP00000265641.4:p.Ala75Thr
ENST00000376618.6:c.223G>A ENSP00000365803.2:p.Ala75Thr
ENST00000539743.5:c.223G>A ENSP00000446108.1:p.Ala75Thr
ENST00000540367.5:c.223G>A ENSP00000439084.1:p.Ala75Thr
ENST00000561996.1:c.223G>A ENSP00000457663.1:p.Ala75Thr
ENST00000565318.5:c.223G>A ENSP00000457826.1:p.Ala75Thr
ENST00000569129.5:c.223G>A ENSP00000455116.1:p.Ala75Thr
NM_001031847.2:c.223G>A NP_001027017.1:p.Ala75Thr
NM_001876.3:c.223G>A NP_001867.2:p.Ala75Thr
XM_005273762.1:c.319G>A XP_005273819.1:p.Ala107Thr
XM_005273763.1:c.319G>A XP_005273820.1:p.Ala107Thr
XM_005273762.3:c.319G>A XP_005273819.1:p.Ala107Thr
XM_017017220.1:c.223G>A XP_016872709.1:p.Ala75Thr
NM_001876.4:c.223G>A MANE Select NP_001867.2:p.Ala75Thr
NM_001031847.3:c.223G>A NP_001027017.1:p.Ala75Thr