Canonical Allele Identifier: CA344976
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 65648
ClinVar RCV Id: RCV000055861
dbSNP Id: rs80356801
MyVariant Identifiers: chr11:g.68540873del (hg19) chr11:g.68773405del (hg38)
PubMed: PMID:16146704 PMID:20301700
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68773407del , CM000673.2:g.68773407del GRCh38
NC_000011.9:g.68540875del , CM000673.1:g.68540875del GRCh37
NC_000011.8:g.68297451del NCBI36
NG_011801.1:g.73527del

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.1600del MANE Select ENSP00000265641.4:p.Leu534Ter
ENST00000265641.9:c.1600del ENSP00000265641.4:p.Leu534Ter
ENST00000376618.6:c.1600del ENSP00000365803.2:p.Leu534Ter
ENST00000537756.2:n.310del
ENST00000539743.5:c.1600del ENSP00000446108.1:p.Leu534Ter
ENST00000540367.5:c.1600del ENSP00000439084.1:p.Leu534Ter
NM_001031847.2:c.1600del NP_001027017.1:p.Leu534Ter
NM_001876.3:c.1600del NP_001867.2:p.Leu534Ter
XM_005273762.1:c.1696del XP_005273819.1:p.Leu566Ter
XM_005273763.1:c.1696del XP_005273820.1:p.Leu566Ter
XM_005273762.3:c.1696del XP_005273819.1:p.Leu566Ter
XM_017017220.1:c.1600del XP_016872709.1:p.Leu534Ter
NM_001876.4:c.1600del MANE Select NP_001867.2:p.Leu534Ter
NM_001031847.3:c.1600del NP_001027017.1:p.Leu534Ter
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