Canonical Allele Identifier: CA9582360

Gene: CPT1C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49711836G>A , CM000681.2:g.49711836G>A	GRCh38
NC_000019.9:g.50215093G>A , CM000681.1:g.50215093G>A	GRCh37
NC_000019.8:g.54906905G>A	NCBI36
NG_050570.1:g.25959G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001199753.2:c.1894G>A MANE Select	NP_001186682.1:p.Val632Met
ENST00000598293.6:c.1894G>A MANE Select	ENSP00000473028.1:p.Val632Met
NM_001136052.2:c.1861G>A	NP_001129524.1:p.Val621Met
NM_001136052.3:c.1861G>A	NP_001129524.1:p.Val621Met
NM_001199752.2:c.1894G>A	NP_001186681.1:p.Val632Met
NM_001199752.3:c.1894G>A	NP_001186681.1:p.Val632Met
NM_001199753.1:c.1894G>A	NP_001186682.1:p.Val632Met
NM_001378482.1:c.1960G>A	NP_001365411.1:p.Val654Met
NM_001378483.1:c.1894G>A	NP_001365412.1:p.Val632Met
NM_001378484.1:c.1894G>A	NP_001365413.1:p.Val632Met
NM_001378485.1:c.1861G>A	NP_001365414.1:p.Val621Met
NM_001378486.1:c.1759G>A	NP_001365415.1:p.Val587Met
NM_001378487.1:c.1726G>A	NP_001365416.1:p.Val576Met
NM_001378488.1:c.1759G>A	NP_001365417.1:p.Val587Met
NM_152359.2:c.1894G>A	NP_689572.1:p.Val632Met
NM_152359.3:c.1894G>A	NP_689572.1:p.Val632Met
NR_108072.1:n.2372G>A
NR_108072.2:n.2364G>A
ENST00000323446.9:c.1894G>A	ENSP00000319343.4:p.Val632Met
ENST00000392518.8:c.1894G>A	ENSP00000376303.4:p.Val632Met
ENST00000405931.6:c.1861G>A	ENSP00000384465.2:p.Val621Met
ENST00000595031.1:c.732+979G>A	ENSP00000472579.1:n.732+979G>A
ENST00000595901.5:n.273G>A
ENST00000596701.1:n.2443G>A
ENST00000598259.5:c.*1808G>A	ENSP00000472742.1:n.*1808G>A
ENST00000598293.5:c.1894G>A	ENSP00000473028.1:p.Val632Met
XM_005258505.2:c.1894G>A	XP_005258562.1:p.Val632Met
XM_005258506.3:c.1894G>A	XP_005258563.1:p.Val632Met
XM_005258506.4:c.1894G>A	XP_005258563.1:p.Val632Met
XM_006723009.2:c.1507G>A	XP_006723072.1:p.Val503Met
XM_006723009.3:c.1507G>A	XP_006723072.1:p.Val503Met
XM_011526438.1:c.1894G>A	XP_011524740.1:p.Val632Met
XM_011526439.1:c.1894G>A	XP_011524741.1:p.Val632Met
XM_011526440.1:c.1759G>A	XP_011524742.1:p.Val587Met
XM_011526440.3:c.1759G>A	XP_011524742.1:p.Val587Met
XM_017026265.1:c.1759G>A	XP_016881754.1:p.Val587Met
XM_017026266.2:c.1726G>A	XP_016881755.1:p.Val576Met
XM_017026267.1:c.1408G>A	XP_016881756.1:p.Val470Met
XM_017026268.1:c.1408G>A	XP_016881757.1:p.Val470Met
XM_017026269.1:c.1408G>A	XP_016881758.1:p.Val470Met
XM_017026271.1:c.1375G>A	XP_016881760.1:p.Val459Met
XM_017026272.1:c.1273G>A	XP_016881761.1:p.Val425Met
XM_017026273.1:c.1273G>A	XP_016881762.1:p.Val425Met
XM_024451348.1:c.1993G>A	XP_024307116.1:p.Val665Met
XM_024451349.1:c.1993G>A	XP_024307117.1:p.Val665Met
XM_024451350.1:c.1993G>A	XP_024307118.1:p.Val665Met
XM_024451351.1:c.1993G>A	XP_024307119.1:p.Val665Met
XM_024451352.1:c.1993G>A	XP_024307120.1:p.Val665Met
XM_024451353.1:c.1993G>A	XP_024307121.1:p.Val665Met
XM_024451354.1:c.1993G>A	XP_024307122.1:p.Val665Met
XM_024451355.1:c.1960G>A	XP_024307123.1:p.Val654Met
XM_024451356.1:c.1858G>A	XP_024307124.1:p.Val620Met
XM_024451357.1:c.1507G>A	XP_024307125.1:p.Val503Met
XM_024451358.1:c.1507G>A	XP_024307126.1:p.Val503Met