Canonical Allele Identifier: CA475189182

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 2003553
• ClinVar RCV Id: RCV002833267
• MyVariant Identifiers: chr11:g.68542784T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775316T>C , CM000673.2:g.68775316T>C	GRCh38
NC_000011.9:g.68542784T>C , CM000673.1:g.68542784T>C	GRCh37
NC_000011.8:g.68299360T>C	NCBI36
NG_011801.1:g.71616A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.1575A>G MANE Select	ENSP00000265641.4:p.Glu525=
ENST00000265641.9:c.1575A>G	ENSP00000265641.4:p.Glu525=
ENST00000376618.6:c.1575A>G	ENSP00000365803.2:p.Glu525=
ENST00000539743.5:c.1575A>G	ENSP00000446108.1:p.Glu525=
ENST00000540367.5:c.1575A>G	ENSP00000439084.1:p.Glu525=
NM_001031847.2:c.1575A>G	NP_001027017.1:p.Glu525=
NM_001876.3:c.1575A>G	NP_001867.2:p.Glu525=
XM_005273762.1:c.1671A>G	XP_005273819.1:p.Glu557=
XM_005273763.1:c.1671A>G	XP_005273820.1:p.Glu557=
XM_005273762.3:c.1671A>G	XP_005273819.1:p.Glu557=
XM_017017220.1:c.1575A>G	XP_016872709.1:p.Glu525=
NM_001876.4:c.1575A>G MANE Select	NP_001867.2:p.Glu525=
NM_001031847.3:c.1575A>G	NP_001027017.1:p.Glu525=