Canonical Allele Identifier: CA2581028854

Gene: CPT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68784951A= , CM000673.2:g.68784951A=	GRCh38
NC_000011.9:g.68552419A= , CM000673.1:g.68552419A=	GRCh37
NC_000011.8:g.68308995A=	NCBI36
NG_011801.1:g.61981T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001876.4:c.1027T= MANE Select	NP_001867.2:p.Phe343=
ENST00000265641.10:c.1027T= MANE Select	ENSP00000265641.4:p.Phe343=
NM_001031847.2:c.1027T=	NP_001027017.1:p.Phe343=
NM_001031847.3:c.1027T=	NP_001027017.1:p.Phe343=
NM_001876.3:c.1027T=	NP_001867.2:p.Phe343=
ENST00000265641.9:c.1027T=	ENSP00000265641.4:p.Phe343=
ENST00000376618.6:c.1027T=	ENSP00000365803.2:p.Phe343=
ENST00000539743.5:c.1027T=	ENSP00000446108.1:p.Phe343=
ENST00000540367.5:c.1027T=	ENSP00000439084.1:p.Phe343=
XM_005273762.1:c.1123T=	XP_005273819.1:p.Phe375=
XM_005273762.3:c.1123T=	XP_005273819.1:p.Phe375=
XM_005273763.1:c.1123T=	XP_005273820.1:p.Phe375=
XM_017017220.1:c.1027T=	XP_016872709.1:p.Phe343=