Canonical Allele Identifier: CA6152479

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1039644
• ClinVar RCV Id: RCV001343156
• dbSNP Id: rs536671702
• ExAC: 11:68560821 C / T
• gnomAD v2: 11-68560821-C-T
• gnomAD v3: 11-68793353-C-T
• gnomAD v4: 11-68793353-C-T
• COSMIC: COSM3452526 ; COSM3452527
• MyVariant Identifiers: chr11:g.68560821C>T (hg19) ; chr11:g.68793353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793353C>T , CM000673.2:g.68793353C>T	GRCh38
NC_000011.9:g.68560821C>T , CM000673.1:g.68560821C>T	GRCh37
NC_000011.8:g.68317397C>T	NCBI36
NG_011801.1:g.53579G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.929G>A MANE Select	ENSP00000265641.4:p.Arg310Gln
ENST00000265641.9:c.929G>A	ENSP00000265641.4:p.Arg310Gln
ENST00000376618.6:c.929G>A	ENSP00000365803.2:p.Arg310Gln
ENST00000538994.1:c.185G>A	ENSP00000454332.1:p.Arg62Gln
ENST00000539743.5:c.929G>A	ENSP00000446108.1:p.Arg310Gln
ENST00000540367.5:c.929G>A	ENSP00000439084.1:p.Arg310Gln
NM_001031847.2:c.929G>A	NP_001027017.1:p.Arg310Gln
NM_001876.3:c.929G>A	NP_001867.2:p.Arg310Gln
XM_005273762.1:c.1025G>A	XP_005273819.1:p.Arg342Gln
XM_005273763.1:c.1025G>A	XP_005273820.1:p.Arg342Gln
XM_005273762.3:c.1025G>A	XP_005273819.1:p.Arg342Gln
XM_017017220.1:c.929G>A	XP_016872709.1:p.Arg310Gln
NM_001876.4:c.929G>A MANE Select	NP_001867.2:p.Arg310Gln
NM_001031847.3:c.929G>A	NP_001027017.1:p.Arg310Gln