Canonical Allele Identifier: CA679630314
Gene: CPT1A HGNC NCBI

Linked Data

dbSNP Id: rs1364039490

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68759402_68759403insG , CM000673.2:g.68759402_68759403insG GRCh38
NC_000011.9:g.68526870_68526871insG , CM000673.1:g.68526870_68526871insG GRCh37
NC_000011.8:g.68283446_68283447insG NCBI36
NG_011801.1:g.87529_87530insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.2235+166_2235+167insC MANE Select ENSP00000265641.4:n.2235+166_2235+167insC
ENST00000265641.9:c.2235+166_2235+167insC ENSP00000265641.4:n.2235+166_2235+167insC
ENST00000376618.6:c.2235+166_2235+167insC ENSP00000365803.2:n.2235+166_2235+167insC
ENST00000539743.5:c.2235+166_2235+167insC ENSP00000446108.1:n.2235+166_2235+167insC
ENST00000540367.5:c.2235+166_2235+167insC ENSP00000439084.1:n.2235+166_2235+167insC
NM_001031847.2:c.2235+166_2235+167insC NP_001027017.1:n.2235+166_2235+167insC
NM_001876.3:c.2235+166_2235+167insC NP_001867.2:n.2235+166_2235+167insC
XM_005273762.1:c.2331+166_2331+167insC XP_005273819.1:n.2331+166_2331+167insC
XM_005273763.1:c.2331+166_2331+167insC XP_005273820.1:n.2331+166_2331+167insC
XM_005273762.3:c.2331+166_2331+167insC XP_005273819.1:n.2331+166_2331+167insC
XM_017017220.1:c.2235+166_2235+167insC XP_016872709.1:n.2235+166_2235+167insC
NM_001876.4:c.2235+166_2235+167insC MANE Select NP_001867.2:n.2235+166_2235+167insC
NM_001031847.3:c.2235+166_2235+167insC NP_001027017.1:n.2235+166_2235+167insC