Canonical Allele Identifier: CA16041544
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370369
ClinVar RCV Id: RCV000409874
dbSNP Id: rs1057516434

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68812532C>T , CM000673.2:g.68812532C>T GRCh38
NC_000011.9:g.68580000C>T , CM000673.1:g.68580000C>T GRCh37
NC_000011.8:g.68336576C>T NCBI36
NG_011801.1:g.34400G>A

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.186G>A VV NP_001027017.1:p.Trp62Ter
NM_001876.3:c.186G>A VV NP_001867.2:p.Trp62Ter
XM_005273762.1:c.282G>A XP_005273819.1:p.Trp94Ter
XM_005273763.1:c.282G>A XP_005273820.1:p.Trp94Ter
XM_005273762.3:c.282G>A
XM_017017220.1:c.186G>A XP_016872709.1:p.Trp62Ter
NM_001876.4:c.186G>A VV MANE Preferred
ENST00000265641.9:c.186G>A ENSP00000265641.4:p.Trp62Ter
ENST00000376618.6:c.186G>A ENSP00000365803.2:p.Trp62Ter
ENST00000539743.5:c.186G>A ENSP00000446108.1:p.Trp62Ter
ENST00000540367.5:c.186G>A ENSP00000439084.1:p.Trp62Ter
ENST00000561996.1:c.186G>A ENSP00000457663.1:p.Trp62Ter
ENST00000565318.5:c.186G>A ENSP00000457826.1:p.Trp62Ter
ENST00000569129.5:c.186G>A ENSP00000455116.1:p.Trp62Ter