Canonical Allele Identifier: CA6152297

Gene: CPT1A

Linked Data

• dbSNP Id: rs760625895
• ExAC: 11:68542916 C / CT
• gnomAD v2: 11-68542916-C-CT
• MyVariant Identifiers: chr11:g.68542916_68542917insT (hg19) ; chr11:g.68775448_68775449insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775448_68775449insT , CM000673.2:g.68775448_68775449insT	GRCh38
NC_000011.9:g.68542916_68542917insT , CM000673.1:g.68542916_68542917insT	GRCh37
NC_000011.8:g.68299492_68299493insT	NCBI36
NG_011801.1:g.71483_71484insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1459-17_1459-16insA MANE Select	ENSP00000265641.4:n.1459-17_1459-16insA
ENST00000265641.9:c.1459-17_1459-16insA	ENSP00000265641.4:n.1459-17_1459-16insA
ENST00000376618.6:c.1459-17_1459-16insA	ENSP00000365803.2:n.1459-17_1459-16insA
ENST00000539743.5:c.1459-17_1459-16insA	ENSP00000446108.1:n.1459-17_1459-16insA
ENST00000540367.5:c.1459-17_1459-16insA	ENSP00000439084.1:n.1459-17_1459-16insA
NM_001031847.2:c.1459-17_1459-16insA	NP_001027017.1:n.1459-17_1459-16insA
NM_001876.3:c.1459-17_1459-16insA	NP_001867.2:n.1459-17_1459-16insA
XM_005273762.1:c.1555-17_1555-16insA	XP_005273819.1:n.1555-17_1555-16insA
XM_005273763.1:c.1555-17_1555-16insA	XP_005273820.1:n.1555-17_1555-16insA
XM_005273762.3:c.1555-17_1555-16insA	XP_005273819.1:n.1555-17_1555-16insA
XM_017017220.1:c.1459-17_1459-16insA	XP_016872709.1:n.1459-17_1459-16insA
NM_001876.4:c.1459-17_1459-16insA MANE Select	NP_001867.2:n.1459-17_1459-16insA
NM_001031847.3:c.1459-17_1459-16insA	NP_001027017.1:n.1459-17_1459-16insA