Canonical Allele Identifier: CA3182733453
Community Standard Title: NM_001876.4(CPT1A):c.1339C= (p.Arg447=)
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68781784G= , CM000673.2:g.68781784G= GRCh38
NC_000011.9:g.68549252G= , CM000673.1:g.68549252G= GRCh37
NC_000011.8:g.68305828G= NCBI36
NG_011801.1:g.65148C=

Transcript Alleles

HGVS Amino-acid Change
NM_001876.4:c.1339C= MANE Select NP_001867.2:p.Arg447=
ENST00000265641.10:c.1339C= MANE Select ENSP00000265641.4:p.Arg447=
NM_001031847.2:c.1339C= NP_001027017.1:p.Arg447=
NM_001031847.3:c.1339C= NP_001027017.1:p.Arg447=
NM_001876.3:c.1339C= NP_001867.2:p.Arg447=
ENST00000265641.9:c.1339C= ENSP00000265641.4:p.Arg447=
ENST00000376618.6:c.1339C= ENSP00000365803.2:p.Arg447=
ENST00000539743.5:c.1339C= ENSP00000446108.1:p.Arg447=
ENST00000540367.5:c.1339C= ENSP00000439084.1:p.Arg447=
XM_005273762.1:c.1435C= XP_005273819.1:p.Arg479=
XM_005273762.3:c.1435C= XP_005273819.1:p.Arg479=
XM_005273763.1:c.1435C= XP_005273820.1:p.Arg479=
XM_017017220.1:c.1339C= XP_016872709.1:p.Arg447=