Canonical Allele Identifier: CA309517406

Gene: CPT1C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49710422C>T , CM000681.2:g.49710422C>T	GRCh38
NC_000019.9:g.50213679C>T , CM000681.1:g.50213679C>T	GRCh37
NC_000019.8:g.54905491C>T	NCBI36
NG_050570.1:g.24545C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001199753.2:c.1669C>T MANE Select	NP_001186682.1:p.Arg557Ter
ENST00000598293.6:c.1669C>T MANE Select	ENSP00000473028.1:p.Arg557Ter
NM_001136052.2:c.1636C>T	NP_001129524.1:p.Arg546Ter
NM_001136052.3:c.1636C>T	NP_001129524.1:p.Arg546Ter
NM_001199752.2:c.1669C>T	NP_001186681.1:p.Arg557Ter
NM_001199752.3:c.1669C>T	NP_001186681.1:p.Arg557Ter
NM_001199753.1:c.1669C>T	NP_001186682.1:p.Arg557Ter
NM_001378482.1:c.1735C>T	NP_001365411.1:p.Arg579Ter
NM_001378483.1:c.1669C>T	NP_001365412.1:p.Arg557Ter
NM_001378484.1:c.1669C>T	NP_001365413.1:p.Arg557Ter
NM_001378485.1:c.1636C>T	NP_001365414.1:p.Arg546Ter
NM_001378486.1:c.1669C>T	NP_001365415.1:p.Arg557Ter
NM_001378487.1:c.1636C>T	NP_001365416.1:p.Arg546Ter
NM_001378488.1:c.1669C>T	NP_001365417.1:p.Arg557Ter
NM_152359.2:c.1669C>T	NP_689572.1:p.Arg557Ter
NM_152359.3:c.1669C>T	NP_689572.1:p.Arg557Ter
NR_108072.1:n.2147C>T
NR_108072.2:n.2139C>T
ENST00000295404.9:n.1743C>T
ENST00000323446.9:c.1669C>T	ENSP00000319343.4:p.Arg557Ter
ENST00000392518.8:c.1669C>T	ENSP00000376303.4:p.Arg557Ter
ENST00000405931.6:c.1636C>T	ENSP00000384465.2:p.Arg546Ter
ENST00000595031.1:c.535C>T	ENSP00000472579.1:p.Arg179Ter
ENST00000596701.1:n.1029C>T
ENST00000598259.5:c.*1583C>T	ENSP00000472742.1:n.*1583C>T
ENST00000598293.5:c.1669C>T	ENSP00000473028.1:p.Arg557Ter
ENST00000599023.5:n.1875C>T
XM_005258505.2:c.1669C>T	XP_005258562.1:p.Arg557Ter
XM_005258506.3:c.1669C>T	XP_005258563.1:p.Arg557Ter
XM_005258506.4:c.1669C>T	XP_005258563.1:p.Arg557Ter
XM_006723009.2:c.1282C>T	XP_006723072.1:p.Arg428Ter
XM_006723009.3:c.1282C>T	XP_006723072.1:p.Arg428Ter
XM_006723010.2:c.1669C>T	XP_006723073.1:p.Arg557Ter
XM_011526438.1:c.1669C>T	XP_011524740.1:p.Arg557Ter
XM_011526439.1:c.1669C>T	XP_011524741.1:p.Arg557Ter
XM_011526440.1:c.1669C>T	XP_011524742.1:p.Arg557Ter
XM_011526440.3:c.1669C>T	XP_011524742.1:p.Arg557Ter
XM_017026265.1:c.1669C>T	XP_016881754.1:p.Arg557Ter
XM_017026266.2:c.1636C>T	XP_016881755.1:p.Arg546Ter
XM_017026267.1:c.1183C>T	XP_016881756.1:p.Arg395Ter
XM_017026268.1:c.1183C>T	XP_016881757.1:p.Arg395Ter
XM_017026269.1:c.1183C>T	XP_016881758.1:p.Arg395Ter
XM_017026271.1:c.1150C>T	XP_016881760.1:p.Arg384Ter
XM_017026272.1:c.1183C>T	XP_016881761.1:p.Arg395Ter
XM_017026273.1:c.1183C>T	XP_016881762.1:p.Arg395Ter
XM_024451348.1:c.1768C>T	XP_024307116.1:p.Arg590Ter
XM_024451349.1:c.1768C>T	XP_024307117.1:p.Arg590Ter
XM_024451350.1:c.1768C>T	XP_024307118.1:p.Arg590Ter
XM_024451351.1:c.1768C>T	XP_024307119.1:p.Arg590Ter
XM_024451352.1:c.1768C>T	XP_024307120.1:p.Arg590Ter
XM_024451353.1:c.1768C>T	XP_024307121.1:p.Arg590Ter
XM_024451354.1:c.1768C>T	XP_024307122.1:p.Arg590Ter
XM_024451355.1:c.1735C>T	XP_024307123.1:p.Arg579Ter
XM_024451356.1:c.1768C>T	XP_024307124.1:p.Arg590Ter
XM_024451357.1:c.1282C>T	XP_024307125.1:p.Arg428Ter
XM_024451358.1:c.1282C>T	XP_024307126.1:p.Arg428Ter