Canonical Allele Identifier: CA221859
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 9063
ClinVar RCV Id: RCV000009630 RCV000790812
dbSNP Id: rs80356774
MyVariant Identifiers: chr11:g.68575090G>A (hg19) chr11:g.68807622G>A (hg38)
PubMed: PMID:12189492 PMID:20301700 PMID:23757202 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68807622G>A , CM000673.2:g.68807622G>A GRCh38
NC_000011.9:g.68575090G>A , CM000673.1:g.68575090G>A GRCh37
NC_000011.8:g.68331666G>A NCBI36
NG_011801.1:g.39310C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.298C>T MANE Select ENSP00000265641.4:p.Gln100Ter
ENST00000265641.9:c.298C>T ENSP00000265641.4:p.Gln100Ter
ENST00000376618.6:c.298C>T ENSP00000365803.2:p.Gln100Ter
ENST00000539743.5:c.298C>T ENSP00000446108.1:p.Gln100Ter
ENST00000540367.5:c.298C>T ENSP00000439084.1:p.Gln100Ter
ENST00000565318.5:c.298C>T ENSP00000457826.1:p.Gln100Ter
ENST00000569129.5:c.298C>T ENSP00000455116.1:p.Gln100Ter
NM_001031847.2:c.298C>T NP_001027017.1:p.Gln100Ter
NM_001876.3:c.298C>T NP_001867.2:p.Gln100Ter
XM_005273762.1:c.394C>T XP_005273819.1:p.Gln132Ter
XM_005273763.1:c.394C>T XP_005273820.1:p.Gln132Ter
XM_005273762.3:c.394C>T XP_005273819.1:p.Gln132Ter
XM_017017220.1:c.298C>T XP_016872709.1:p.Gln100Ter
NM_001876.4:c.298C>T MANE Select NP_001867.2:p.Gln100Ter
NM_001031847.3:c.298C>T NP_001027017.1:p.Gln100Ter
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