Canonical Allele Identifier: CA221858
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 93973
dbSNP Id: rs191107774

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68812436C>T , CM000673.2:g.68812436C>T GRCh38
NC_000011.9:g.68579904C>T , CM000673.1:g.68579904C>T GRCh37
NC_000011.8:g.68336480C>T NCBI36
NG_011801.1:g.34496G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.281+1G>A MANE Select ENSP00000265641.4:n.281+1G>A
ENST00000265641.9:c.281+1G>A ENSP00000265641.4:n.281+1G>A
ENST00000376618.6:c.281+1G>A ENSP00000365803.2:n.281+1G>A
ENST00000539743.5:c.281+1G>A ENSP00000446108.1:n.281+1G>A
ENST00000540367.5:c.281+1G>A ENSP00000439084.1:n.281+1G>A
ENST00000565318.5:c.281+1G>A ENSP00000457826.1:n.281+1G>A
ENST00000569129.5:c.281+1G>A ENSP00000455116.1:n.281+1G>A
NM_001031847.2:c.281+1G>A NP_001027017.1:n.281+1G>A
NM_001876.3:c.281+1G>A NP_001867.2:n.281+1G>A
XM_005273762.1:c.377+1G>A XP_005273819.1:n.377+1G>A
XM_005273763.1:c.377+1G>A XP_005273820.1:n.377+1G>A
XM_005273762.3:c.377+1G>A XP_005273819.1:n.377+1G>A
XM_017017220.1:c.281+1G>A XP_016872709.1:n.281+1G>A
NM_001876.4:c.281+1G>A MANE Select NP_001867.2:n.281+1G>A
NM_001031847.3:c.281+1G>A NP_001027017.1:n.281+1G>A