Canonical Allele Identifier: CA2574903354
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794788C>G , CM000673.2:g.68794788C>G GRCh38
NC_000011.9:g.68562256C>G , CM000673.1:g.68562256C>G GRCh37
NC_000011.8:g.68318832C>G NCBI36
NG_011801.1:g.52144G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.879+16G>C MANE Select ENSP00000265641.4:n.879+16G>C
ENST00000265641.9:c.879+16G>C ENSP00000265641.4:n.879+16G>C
ENST00000376618.6:c.879+16G>C ENSP00000365803.2:n.879+16G>C
ENST00000538994.1:c.135+16G>C ENSP00000454332.1:n.135+16G>C
ENST00000539743.5:c.879+16G>C ENSP00000446108.1:n.879+16G>C
ENST00000540367.5:c.879+16G>C ENSP00000439084.1:n.879+16G>C
NM_001031847.2:c.879+16G>C NP_001027017.1:n.879+16G>C
NM_001876.3:c.879+16G>C NP_001867.2:n.879+16G>C
XM_005273762.1:c.975+16G>C XP_005273819.1:n.975+16G>C
XM_005273763.1:c.975+16G>C XP_005273820.1:n.975+16G>C
XM_005273762.3:c.975+16G>C XP_005273819.1:n.975+16G>C
XM_017017220.1:c.879+16G>C XP_016872709.1:n.879+16G>C
NM_001876.4:c.879+16G>C MANE Select NP_001867.2:n.879+16G>C
NM_001031847.3:c.879+16G>C NP_001027017.1:n.879+16G>C