Canonical Allele Identifier: CA6152744

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1136456
• ClinVar RCV Id: RCV001472116
• dbSNP Id: rs759964195
• ExAC: 11:68579970 C / T
• gnomAD v2: 11-68579970-C-T
• gnomAD v3: 11-68812502-C-T
• gnomAD v4: 11-68812502-C-T
• COSMIC: COSM931313 ; COSM4875713
• MyVariant Identifiers: chr11:g.68579970C>T (hg19) ; chr11:g.68812502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68812502C>T , CM000673.2:g.68812502C>T	GRCh38
NC_000011.9:g.68579970C>T , CM000673.1:g.68579970C>T	GRCh37
NC_000011.8:g.68336546C>T	NCBI36
NG_011801.1:g.34430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.216G>A MANE Select	ENSP00000265641.4:p.Thr72=
ENST00000265641.9:c.216G>A	ENSP00000265641.4:p.Thr72=
ENST00000376618.6:c.216G>A	ENSP00000365803.2:p.Thr72=
ENST00000539743.5:c.216G>A	ENSP00000446108.1:p.Thr72=
ENST00000540367.5:c.216G>A	ENSP00000439084.1:p.Thr72=
ENST00000561996.1:c.216G>A	ENSP00000457663.1:p.Thr72=
ENST00000565318.5:c.216G>A	ENSP00000457826.1:p.Thr72=
ENST00000569129.5:c.216G>A	ENSP00000455116.1:p.Thr72=
NM_001031847.2:c.216G>A	NP_001027017.1:p.Thr72=
NM_001876.3:c.216G>A	NP_001867.2:p.Thr72=
XM_005273762.1:c.312G>A	XP_005273819.1:p.Thr104=
XM_005273763.1:c.312G>A	XP_005273820.1:p.Thr104=
XM_005273762.3:c.312G>A	XP_005273819.1:p.Thr104=
XM_017017220.1:c.216G>A	XP_016872709.1:p.Thr72=
NM_001876.4:c.216G>A MANE Select	NP_001867.2:p.Thr72=
NM_001031847.3:c.216G>A	NP_001027017.1:p.Thr72=