Canonical Allele Identifier: CA2976665916
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794868dup , CM000673.2:g.68794868dup GRCh38
NC_000011.9:g.68562336dup , CM000673.1:g.68562336dup GRCh37
NC_000011.8:g.68318912dup NCBI36
NG_011801.1:g.52065dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.816dup MANE Select ENSP00000265641.4:p.Gly273ArgfsTer?
ENST00000265641.9:c.816dup ENSP00000265641.4:p.Gly273ArgfsTer?
ENST00000376618.6:c.816dup ENSP00000365803.2:p.Gly273ArgfsTer?
ENST00000538994.1:c.72dup ENSP00000454332.1:p.Gly25ArgfsTer?
ENST00000539743.5:c.816dup ENSP00000446108.1:p.Gly273ArgfsTer?
ENST00000540367.5:c.816dup ENSP00000439084.1:p.Gly273ArgfsTer?
NM_001031847.2:c.816dup NP_001027017.1:p.Gly273ArgfsTer?
NM_001876.3:c.816dup NP_001867.2:p.Gly273ArgfsTer?
XM_005273762.1:c.912dup XP_005273819.1:p.Gly305ArgfsTer?
XM_005273763.1:c.912dup XP_005273820.1:p.Gly305ArgfsTer?
XM_005273762.3:c.912dup XP_005273819.1:p.Gly305ArgfsTer?
XM_017017220.1:c.816dup XP_016872709.1:p.Gly273ArgfsTer?
NM_001876.4:c.816dup MANE Select NP_001867.2:p.Gly273ArgfsTer?
NM_001031847.3:c.816dup NP_001027017.1:p.Gly273ArgfsTer?