Canonical Allele Identifier: CA654348252

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 3007964
• ClinVar RCV Id: RCV003864563
• COSMIC: COSN1541571

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804113G>A , CM000673.2:g.68804113G>A	GRCh38
NC_000011.9:g.68571581G>A , CM000673.1:g.68571581G>A	GRCh37
NC_000011.8:g.68328157G>A	NCBI36
NG_011801.1:g.42819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.454-12C>T MANE Select	ENSP00000265641.4:n.454-12C>T
ENST00000265641.9:c.454-12C>T	ENSP00000265641.4:n.454-12C>T
ENST00000376618.6:c.454-12C>T	ENSP00000365803.2:n.454-12C>T
ENST00000539743.5:c.454-12C>T	ENSP00000446108.1:n.454-12C>T
ENST00000540367.5:c.454-12C>T	ENSP00000439084.1:n.454-12C>T
NM_001031847.2:c.454-12C>T	NP_001027017.1:n.454-12C>T
NM_001876.3:c.454-12C>T	NP_001867.2:n.454-12C>T
XM_005273762.1:c.550-12C>T	XP_005273819.1:n.550-12C>T
XM_005273763.1:c.550-12C>T	XP_005273820.1:n.550-12C>T
XM_005273762.3:c.550-12C>T	XP_005273819.1:n.550-12C>T
XM_017017220.1:c.454-12C>T	XP_016872709.1:n.454-12C>T
NM_001876.4:c.454-12C>T MANE Select	NP_001867.2:n.454-12C>T
NM_001031847.3:c.454-12C>T	NP_001027017.1:n.454-12C>T