Canonical Allele Identifier: CA381635185

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68799226-T-G
• MyVariant Identifiers: chr11:g.68566694T>G (hg19) ; chr11:g.68799226T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68799226T>G , CM000673.2:g.68799226T>G	GRCh38
NC_000011.9:g.68566694T>G , CM000673.1:g.68566694T>G	GRCh37
NC_000011.8:g.68323270T>G	NCBI36
NG_011801.1:g.47706A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.685A>C MANE Select	ENSP00000265641.4:p.Thr229Pro
ENST00000265641.9:c.685A>C	ENSP00000265641.4:p.Thr229Pro
ENST00000376618.6:c.685A>C	ENSP00000365803.2:p.Thr229Pro
ENST00000538994.1:c.-60A>C	ENSP00000454332.1:n.-60A>C
ENST00000539743.5:c.685A>C	ENSP00000446108.1:p.Thr229Pro
ENST00000540367.5:c.685A>C	ENSP00000439084.1:p.Thr229Pro
NM_001031847.2:c.685A>C	NP_001027017.1:p.Thr229Pro
NM_001876.3:c.685A>C	NP_001867.2:p.Thr229Pro
XM_005273762.1:c.781A>C	XP_005273819.1:p.Thr261Pro
XM_005273763.1:c.781A>C	XP_005273820.1:p.Thr261Pro
XM_005273762.3:c.781A>C	XP_005273819.1:p.Thr261Pro
XM_017017220.1:c.685A>C	XP_016872709.1:p.Thr229Pro
NM_001876.4:c.685A>C MANE Select	NP_001867.2:p.Thr229Pro
NM_001031847.3:c.685A>C	NP_001027017.1:p.Thr229Pro