Canonical Allele Identifier: CA3182674345
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68780647A= , CM000673.2:g.68780647A= GRCh38
NC_000011.9:g.68548115A= , CM000673.1:g.68548115A= GRCh37
NC_000011.8:g.68304691A= NCBI36
NG_011801.1:g.66285T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.1451T= MANE Select ENSP00000265641.4:p.Leu484=
ENST00000265641.9:c.1451T= ENSP00000265641.4:p.Leu484=
ENST00000376618.6:c.1451T= ENSP00000365803.2:p.Leu484=
ENST00000539743.5:c.1451T= ENSP00000446108.1:p.Leu484=
ENST00000540367.5:c.1451T= ENSP00000439084.1:p.Leu484=
NM_001031847.2:c.1451T= NP_001027017.1:p.Leu484=
NM_001876.3:c.1451T= NP_001867.2:p.Leu484=
XM_005273762.1:c.1547T= XP_005273819.1:p.Leu516=
XM_005273763.1:c.1547T= XP_005273820.1:p.Leu516=
XM_005273762.3:c.1547T= XP_005273819.1:p.Leu516=
XM_017017220.1:c.1451T= XP_016872709.1:p.Leu484=
NM_001876.4:c.1451T= MANE Select NP_001867.2:p.Leu484=
NM_001031847.3:c.1451T= NP_001027017.1:p.Leu484=