Canonical Allele Identifier: CA381637875
Gene: CPT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68812469T>C , CM000673.2:g.68812469T>C GRCh38
NC_000011.9:g.68579937T>C , CM000673.1:g.68579937T>C GRCh37
NC_000011.8:g.68336513T>C NCBI36
NG_011801.1:g.34463A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.249A>G MANE Select ENSP00000265641.4:p.Ile83Met
ENST00000265641.9:c.249A>G ENSP00000265641.4:p.Ile83Met
ENST00000376618.6:c.249A>G ENSP00000365803.2:p.Ile83Met
ENST00000539743.5:c.249A>G ENSP00000446108.1:p.Ile83Met
ENST00000540367.5:c.249A>G ENSP00000439084.1:p.Ile83Met
ENST00000561996.1:c.249A>G ENSP00000457663.1:p.Ile83Met
ENST00000565318.5:c.249A>G ENSP00000457826.1:p.Ile83Met
ENST00000569129.5:c.249A>G ENSP00000455116.1:p.Ile83Met
NM_001031847.2:c.249A>G NP_001027017.1:p.Ile83Met
NM_001876.3:c.249A>G NP_001867.2:p.Ile83Met
XM_005273762.1:c.345A>G XP_005273819.1:p.Ile115Met
XM_005273763.1:c.345A>G XP_005273820.1:p.Ile115Met
XM_005273762.3:c.345A>G XP_005273819.1:p.Ile115Met
XM_017017220.1:c.249A>G XP_016872709.1:p.Ile83Met
NM_001876.4:c.249A>G MANE Select NP_001867.2:p.Ile83Met
NM_001031847.3:c.249A>G NP_001027017.1:p.Ile83Met