Canonical Allele Identifier: CA475202267

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1105007
• ClinVar RCV Id: RCV001429248
• dbSNP Id: rs1273814063
• gnomAD v3: 11-68793382-C-A
• gnomAD v4: 11-68793382-C-A
• MyVariant Identifiers: chr11:g.68560850C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793382C>A , CM000673.2:g.68793382C>A	GRCh38
NC_000011.9:g.68560850C>A , CM000673.1:g.68560850C>A	GRCh37
NC_000011.8:g.68317426C>A	NCBI36
NG_011801.1:g.53550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.900G>T MANE Select	ENSP00000265641.4:p.Thr300=
ENST00000265641.9:c.900G>T	ENSP00000265641.4:p.Thr300=
ENST00000376618.6:c.900G>T	ENSP00000365803.2:p.Thr300=
ENST00000538994.1:c.156G>T	ENSP00000454332.1:p.Thr52=
ENST00000539743.5:c.900G>T	ENSP00000446108.1:p.Thr300=
ENST00000540367.5:c.900G>T	ENSP00000439084.1:p.Thr300=
NM_001031847.2:c.900G>T	NP_001027017.1:p.Thr300=
NM_001876.3:c.900G>T	NP_001867.2:p.Thr300=
XM_005273762.1:c.996G>T	XP_005273819.1:p.Thr332=
XM_005273763.1:c.996G>T	XP_005273820.1:p.Thr332=
XM_005273762.3:c.996G>T	XP_005273819.1:p.Thr332=
XM_017017220.1:c.900G>T	XP_016872709.1:p.Thr300=
NM_001876.4:c.900G>T MANE Select	NP_001867.2:p.Thr300=
NM_001031847.3:c.900G>T	NP_001027017.1:p.Thr300=