Canonical Allele Identifier: CA6152632

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 970963
• ClinVar RCV Id: RCV001246631 ; RCV002564110
• dbSNP Id: rs542856213
• ExAC: 11:68571488 C / T
• gnomAD v2: 11-68571488-C-T
• gnomAD v3: 11-68804020-C-T
• gnomAD v4: 11-68804020-C-T
• MyVariant Identifiers: chr11:g.68571488C>T (hg19) ; chr11:g.68804020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804020C>T , CM000673.2:g.68804020C>T	GRCh38
NC_000011.9:g.68571488C>T , CM000673.1:g.68571488C>T	GRCh37
NC_000011.8:g.68328064C>T	NCBI36
NG_011801.1:g.42912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.535G>A MANE Select	ENSP00000265641.4:p.Val179Ile
ENST00000265641.9:c.535G>A	ENSP00000265641.4:p.Val179Ile
ENST00000376618.6:c.535G>A	ENSP00000365803.2:p.Val179Ile
ENST00000539743.5:c.535G>A	ENSP00000446108.1:p.Val179Ile
ENST00000540367.5:c.535G>A	ENSP00000439084.1:p.Val179Ile
NM_001031847.2:c.535G>A	NP_001027017.1:p.Val179Ile
NM_001876.3:c.535G>A	NP_001867.2:p.Val179Ile
XM_005273762.1:c.631G>A	XP_005273819.1:p.Val211Ile
XM_005273763.1:c.631G>A	XP_005273820.1:p.Val211Ile
XM_005273762.3:c.631G>A	XP_005273819.1:p.Val211Ile
XM_017017220.1:c.535G>A	XP_016872709.1:p.Val179Ile
NM_001876.4:c.535G>A MANE Select	NP_001867.2:p.Val179Ile
NM_001031847.3:c.535G>A	NP_001027017.1:p.Val179Ile