Canonical Allele Identifier: CA2962960260
Community Standard Title: NM_001199753.2(CPT1C):c.1817dup (p.Arg607GlufsTer?)
Gene: CPT1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49710808dup , CM000681.2:g.49710808dup GRCh38
NC_000019.9:g.50214065dup , CM000681.1:g.50214065dup GRCh37
NC_000019.8:g.54905877dup NCBI36
NG_050570.1:g.24931dup

Transcript Alleles

HGVS Amino-acid Change
NM_001199753.2:c.1817dup MANE Select NP_001186682.1:p.Arg607GlufsTer?
ENST00000598293.6:c.1817dup MANE Select ENSP00000473028.1:p.Arg607GlufsTer?
NM_001136052.2:c.1784dup NP_001129524.1:p.Arg596GlufsTer?
NM_001136052.3:c.1784dup NP_001129524.1:p.Arg596GlufsTer?
NM_001199752.2:c.1817dup NP_001186681.1:p.Arg607GlufsTer?
NM_001199752.3:c.1817dup NP_001186681.1:p.Arg607GlufsTer?
NM_001199753.1:c.1817dup NP_001186682.1:p.Arg607GlufsTer?
NM_001378482.1:c.1883dup NP_001365411.1:p.Arg629GlufsTer?
NM_001378483.1:c.1817dup NP_001365412.1:p.Arg607GlufsTer?
NM_001378484.1:c.1817dup NP_001365413.1:p.Arg607GlufsTer?
NM_001378485.1:c.1784dup NP_001365414.1:p.Arg596GlufsTer?
NM_001378486.1:c.1731+324dup NP_001365415.1:n.1731+324dup
NM_001378487.1:c.1698+324dup NP_001365416.1:n.1698+324dup
NM_001378488.1:c.1731+324dup NP_001365417.1:n.1731+324dup
NM_152359.2:c.1817dup NP_689572.1:p.Arg607GlufsTer?
NM_152359.3:c.1817dup NP_689572.1:p.Arg607GlufsTer?
NR_108072.1:n.2295dup
NR_108072.2:n.2287dup
ENST00000323446.9:c.1817dup ENSP00000319343.4:p.Arg607GlufsTer?
ENST00000392518.8:c.1817dup ENSP00000376303.4:p.Arg607GlufsTer?
ENST00000405931.6:c.1784dup ENSP00000384465.2:p.Arg596GlufsTer?
ENST00000595031.1:c.683dup ENSP00000472579.1:p.Arg229GlufsTer18
ENST00000596701.1:n.1415dup
ENST00000598259.5:c.*1731dup ENSP00000472742.1:n.*1731dup
ENST00000598293.5:c.1817dup ENSP00000473028.1:p.Arg607GlufsTer?
ENST00000599023.5:n.2261dup
XM_005258505.2:c.1817dup XP_005258562.1:p.Arg607GlufsTer?
XM_005258506.3:c.1817dup XP_005258563.1:p.Arg607GlufsTer?
XM_005258506.4:c.1817dup XP_005258563.1:p.Arg607GlufsTer?
XM_006723009.2:c.1430dup XP_006723072.1:p.Arg478GlufsTer?
XM_006723009.3:c.1430dup XP_006723072.1:p.Arg478GlufsTer?
XM_006723010.2:c.1817dup XP_006723073.1:p.Arg607GlufsTer?
XM_011526438.1:c.1817dup XP_011524740.1:p.Arg607GlufsTer?
XM_011526439.1:c.1817dup XP_011524741.1:p.Arg607GlufsTer?
XM_011526440.1:c.1731+324dup XP_011524742.1:n.1731+324dup
XM_011526440.3:c.1731+324dup XP_011524742.1:n.1731+324dup
XM_017026265.1:c.1731+324dup XP_016881754.1:n.1731+324dup
XM_017026266.2:c.1698+324dup XP_016881755.1:n.1698+324dup
XM_017026267.1:c.1331dup XP_016881756.1:p.Arg445GlufsTer?
XM_017026268.1:c.1331dup XP_016881757.1:p.Arg445GlufsTer?
XM_017026269.1:c.1331dup XP_016881758.1:p.Arg445GlufsTer?
XM_017026271.1:c.1298dup XP_016881760.1:p.Arg434GlufsTer?
XM_017026272.1:c.1245+324dup XP_016881761.1:n.1245+324dup
XM_017026273.1:c.1245+324dup XP_016881762.1:n.1245+324dup
XM_024451348.1:c.1916dup XP_024307116.1:p.Arg640GlufsTer?
XM_024451349.1:c.1916dup XP_024307117.1:p.Arg640GlufsTer?
XM_024451350.1:c.1916dup XP_024307118.1:p.Arg640GlufsTer?
XM_024451351.1:c.1916dup XP_024307119.1:p.Arg640GlufsTer?
XM_024451352.1:c.1916dup XP_024307120.1:p.Arg640GlufsTer?
XM_024451353.1:c.1916dup XP_024307121.1:p.Arg640GlufsTer?
XM_024451354.1:c.1916dup XP_024307122.1:p.Arg640GlufsTer?
XM_024451355.1:c.1883dup XP_024307123.1:p.Arg629GlufsTer?
XM_024451356.1:c.1830+324dup XP_024307124.1:n.1830+324dup
XM_024451357.1:c.1430dup XP_024307125.1:p.Arg478GlufsTer?
XM_024451358.1:c.1430dup XP_024307126.1:p.Arg478GlufsTer?