Canonical Allele Identifier: CA344972

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 65646
• ClinVar RCV Id: RCV000055859
• dbSNP Id: rs80356795
• MyVariant Identifiers: chr11:g.68542865A>T (hg19) ; chr11:g.68775397A>T (hg38)
• PubMed: PMID:14517221 ; PMID:20301700

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775397A>T , CM000673.2:g.68775397A>T	GRCh38
NC_000011.9:g.68542865A>T , CM000673.1:g.68542865A>T	GRCh37
NC_000011.8:g.68299441A>T	NCBI36
NG_011801.1:g.71535T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.1494T>A MANE Select	ENSP00000265641.4:p.Tyr498Ter
ENST00000265641.9:c.1494T>A	ENSP00000265641.4:p.Tyr498Ter
ENST00000376618.6:c.1494T>A	ENSP00000365803.2:p.Tyr498Ter
ENST00000539743.5:c.1494T>A	ENSP00000446108.1:p.Tyr498Ter
ENST00000540367.5:c.1494T>A	ENSP00000439084.1:p.Tyr498Ter
NM_001031847.2:c.1494T>A	NP_001027017.1:p.Tyr498Ter
NM_001876.3:c.1494T>A	NP_001867.2:p.Tyr498Ter
XM_005273762.1:c.1590T>A	XP_005273819.1:p.Tyr530Ter
XM_005273763.1:c.1590T>A	XP_005273820.1:p.Tyr530Ter
XM_005273762.3:c.1590T>A	XP_005273819.1:p.Tyr530Ter
XM_017017220.1:c.1494T>A	XP_016872709.1:p.Tyr498Ter
NM_001876.4:c.1494T>A MANE Select	NP_001867.2:p.Tyr498Ter
NM_001031847.3:c.1494T>A	NP_001027017.1:p.Tyr498Ter