Canonical Allele Identifier: CA6152436
Gene: CPT1A HGNC NCBI

Linked Data

dbSNP Id: rs778274101

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68784957G>A , CM000673.2:g.68784957G>A GRCh38
NC_000011.9:g.68552425G>A , CM000673.1:g.68552425G>A GRCh37
NC_000011.8:g.68309001G>A NCBI36
NG_011801.1:g.61975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.1021C>T MANE Select ENSP00000265641.4:p.Arg341Cys
ENST00000265641.9:c.1021C>T ENSP00000265641.4:p.Arg341Cys
ENST00000376618.6:c.1021C>T ENSP00000365803.2:p.Arg341Cys
ENST00000539743.5:c.1021C>T ENSP00000446108.1:p.Arg341Cys
ENST00000540367.5:c.1021C>T ENSP00000439084.1:p.Arg341Cys
NM_001031847.2:c.1021C>T NP_001027017.1:p.Arg341Cys
NM_001876.3:c.1021C>T NP_001867.2:p.Arg341Cys
XM_005273762.1:c.1117C>T XP_005273819.1:p.Arg373Cys
XM_005273763.1:c.1117C>T XP_005273820.1:p.Arg373Cys
XM_005273762.3:c.1117C>T XP_005273819.1:p.Arg373Cys
XM_017017220.1:c.1021C>T XP_016872709.1:p.Arg341Cys
NM_001876.4:c.1021C>T MANE Select NP_001867.2:p.Arg341Cys
NM_001031847.3:c.1021C>T NP_001027017.1:p.Arg341Cys