Canonical Allele Identifier: CA9582512
Community Standard Title: NM_001199753.2(CPT1C):c.2396C>T (p.Thr799Ile)
Gene: CPT1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49713589C>T , CM000681.2:g.49713589C>T GRCh38
NC_000019.9:g.50216846C>T , CM000681.1:g.50216846C>T GRCh37
NC_000019.8:g.54908658C>T NCBI36
NG_050570.1:g.27712C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199753.2:c.2396C>T MANE Select NP_001186682.1:p.Thr799Ile
ENST00000598293.6:c.2396C>T MANE Select ENSP00000473028.1:p.Thr799Ile
NM_001136052.2:c.2363C>T NP_001129524.1:p.Thr788Ile
NM_001136052.3:c.2363C>T NP_001129524.1:p.Thr788Ile
NM_001199752.2:c.2396C>T NP_001186681.1:p.Thr799Ile
NM_001199752.3:c.2396C>T NP_001186681.1:p.Thr799Ile
NM_001199753.1:c.2396C>T NP_001186682.1:p.Thr799Ile
NM_001378482.1:c.2462C>T NP_001365411.1:p.Thr821Ile
NM_001378483.1:c.2396C>T NP_001365412.1:p.Thr799Ile
NM_001378484.1:c.2396C>T NP_001365413.1:p.Thr799Ile
NM_001378485.1:c.2363C>T NP_001365414.1:p.Thr788Ile
NM_001378486.1:c.2261C>T NP_001365415.1:p.Thr754Ile
NM_001378487.1:c.2228C>T NP_001365416.1:p.Thr743Ile
NM_001378488.1:c.2261C>T NP_001365417.1:p.Thr754Ile
NM_152359.2:c.2396C>T NP_689572.1:p.Thr799Ile
NM_152359.3:c.2396C>T NP_689572.1:p.Thr799Ile
NR_108072.1:n.2874C>T
NR_108072.2:n.2866C>T
ENST00000323446.9:c.2396C>T ENSP00000319343.4:p.Thr799Ile
ENST00000392518.8:c.2396C>T ENSP00000376303.4:p.Thr799Ile
ENST00000405931.6:c.2363C>T ENSP00000384465.2:p.Thr788Ile
ENST00000595031.1:c.995C>T ENSP00000472579.1:p.Thr332Ile
ENST00000595901.5:n.775C>T
ENST00000597099.1:c.195-27C>T ENSP00000471841.1:n.195-27C>T
ENST00000598072.1:n.516C>T
ENST00000598293.5:c.2396C>T ENSP00000473028.1:p.Thr799Ile
ENST00000598647.1:n.539C>T
ENST00000599937.5:n.558C>T
XM_005258505.2:c.2396C>T XP_005258562.1:p.Thr799Ile
XM_005258506.3:c.2396C>T XP_005258563.1:p.Thr799Ile
XM_005258506.4:c.2396C>T XP_005258563.1:p.Thr799Ile
XM_006723009.2:c.2009C>T XP_006723072.1:p.Thr670Ile
XM_006723009.3:c.2009C>T XP_006723072.1:p.Thr670Ile
XM_011526438.1:c.2396C>T XP_011524740.1:p.Thr799Ile
XM_011526439.1:c.2396C>T XP_011524741.1:p.Thr799Ile
XM_011526440.1:c.2261C>T XP_011524742.1:p.Thr754Ile
XM_011526440.3:c.2261C>T XP_011524742.1:p.Thr754Ile
XM_017026265.1:c.2261C>T XP_016881754.1:p.Thr754Ile
XM_017026266.2:c.2228C>T XP_016881755.1:p.Thr743Ile
XM_017026267.1:c.1910C>T XP_016881756.1:p.Thr637Ile
XM_017026268.1:c.1910C>T XP_016881757.1:p.Thr637Ile
XM_017026269.1:c.1910C>T XP_016881758.1:p.Thr637Ile
XM_017026271.1:c.1877C>T XP_016881760.1:p.Thr626Ile
XM_017026272.1:c.1775C>T XP_016881761.1:p.Thr592Ile
XM_017026273.1:c.1775C>T XP_016881762.1:p.Thr592Ile
XM_024451348.1:c.2495C>T XP_024307116.1:p.Thr832Ile
XM_024451349.1:c.2495C>T XP_024307117.1:p.Thr832Ile
XM_024451350.1:c.2495C>T XP_024307118.1:p.Thr832Ile
XM_024451351.1:c.2495C>T XP_024307119.1:p.Thr832Ile
XM_024451352.1:c.2495C>T XP_024307120.1:p.Thr832Ile
XM_024451353.1:c.2495C>T XP_024307121.1:p.Thr832Ile
XM_024451354.1:c.2495C>T XP_024307122.1:p.Thr832Ile
XM_024451355.1:c.2462C>T XP_024307123.1:p.Thr821Ile
XM_024451356.1:c.2360C>T XP_024307124.1:p.Thr787Ile
XM_024451357.1:c.2009C>T XP_024307125.1:p.Thr670Ile
XM_024451358.1:c.2009C>T XP_024307126.1:p.Thr670Ile