Canonical Allele Identifier: CA16041534
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370829
ClinVar RCV Id: RCV000409196
dbSNP Id: rs1057516800

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68761566_68761567insTTTT , CM000673.2:g.68761566_68761567insTTTT GRCh38
NC_000011.9:g.68529034_68529035insTTTT , CM000673.1:g.68529034_68529035insTTTT GRCh37
NC_000011.8:g.68285610_68285611insTTTT NCBI36
NG_011801.1:g.85366_85367insAAAA

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.1997_1998insAAAA VV NP_001027017.1:p.Tyr666Ter
NM_001876.3:c.1997_1998insAAAA VV NP_001867.2:p.Tyr666Ter
XM_005273762.1:c.2093_2094insAAAA XP_005273819.1:p.Tyr698Ter
XM_005273763.1:c.2093_2094insAAAA XP_005273820.1:p.Tyr698Ter
XM_005273762.3:c.2093_2094insAAAA XP_005273819.1:p.Tyr698Ter
XM_017017220.1:c.1997_1998insAAAA XP_016872709.1:p.Tyr666Ter
NM_001876.4:c.1997_1998insAAAA VV MANE Preferred NP_001867.2:p.Tyr666Ter
ENST00000265641.9:c.1997_1998insAAAA ENSP00000265641.4:p.Tyr666Ter
ENST00000376618.6:c.1997_1998insAAAA ENSP00000365803.2:p.Tyr666Ter
ENST00000539743.5:c.1997_1998insAAAA ENSP00000446108.1:p.Tyr666Ter
ENST00000540367.5:c.1997_1998insAAAA ENSP00000439084.1:p.Tyr666Ter