Canonical Allele Identifier: CA475205367

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 2778775
• ClinVar RCV Id: RCV003751012
• MyVariant Identifiers: chr11:g.68571492C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804024C>A , CM000673.2:g.68804024C>A	GRCh38
NC_000011.9:g.68571492C>A , CM000673.1:g.68571492C>A	GRCh37
NC_000011.8:g.68328068C>A	NCBI36
NG_011801.1:g.42908G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.531G>T MANE Select	ENSP00000265641.4:p.Pro177=
ENST00000265641.9:c.531G>T	ENSP00000265641.4:p.Pro177=
ENST00000376618.6:c.531G>T	ENSP00000365803.2:p.Pro177=
ENST00000539743.5:c.531G>T	ENSP00000446108.1:p.Pro177=
ENST00000540367.5:c.531G>T	ENSP00000439084.1:p.Pro177=
NM_001031847.2:c.531G>T	NP_001027017.1:p.Pro177=
NM_001876.3:c.531G>T	NP_001867.2:p.Pro177=
XM_005273762.1:c.627G>T	XP_005273819.1:p.Pro209=
XM_005273763.1:c.627G>T	XP_005273820.1:p.Pro209=
XM_005273762.3:c.627G>T	XP_005273819.1:p.Pro209=
XM_017017220.1:c.531G>T	XP_016872709.1:p.Pro177=
NM_001876.4:c.531G>T MANE Select	NP_001867.2:p.Pro177=
NM_001031847.3:c.531G>T	NP_001027017.1:p.Pro177=