Canonical Allele Identifier: CA475205348

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 2103354
• ClinVar RCV Id: RCV003022107
• MyVariant Identifiers: chr11:g.68571470T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804002T>G , CM000673.2:g.68804002T>G	GRCh38
NC_000011.9:g.68571470T>G , CM000673.1:g.68571470T>G	GRCh37
NC_000011.8:g.68328046T>G	NCBI36
NG_011801.1:g.42930A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.553A>C MANE Select	ENSP00000265641.4:p.Arg185=
ENST00000265641.9:c.553A>C	ENSP00000265641.4:p.Arg185=
ENST00000376618.6:c.553A>C	ENSP00000365803.2:p.Arg185=
ENST00000539743.5:c.553A>C	ENSP00000446108.1:p.Arg185=
ENST00000540367.5:c.553A>C	ENSP00000439084.1:p.Arg185=
NM_001031847.2:c.553A>C	NP_001027017.1:p.Arg185=
NM_001876.3:c.553A>C	NP_001867.2:p.Arg185=
XM_005273762.1:c.649A>C	XP_005273819.1:p.Arg217=
XM_005273763.1:c.649A>C	XP_005273820.1:p.Arg217=
XM_005273762.3:c.649A>C	XP_005273819.1:p.Arg217=
XM_017017220.1:c.553A>C	XP_016872709.1:p.Arg185=
NM_001876.4:c.553A>C MANE Select	NP_001867.2:p.Arg185=
NM_001031847.3:c.553A>C	NP_001027017.1:p.Arg185=