Canonical Allele Identifier: CA406909186

Gene: CPT1C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49711962G>C , CM000681.2:g.49711962G>C	GRCh38
NC_000019.9:g.50215219G>C , CM000681.1:g.50215219G>C	GRCh37
NC_000019.8:g.54907031G>C	NCBI36
NG_050570.1:g.26085G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199753.2:c.2019+1G>C MANE Select	NP_001186682.1:n.2019+1G>C
ENST00000598293.6:c.2019+1G>C MANE Select	ENSP00000473028.1:n.2019+1G>C
NM_001136052.2:c.1986+1G>C	NP_001129524.1:n.1986+1G>C
NM_001136052.3:c.1986+1G>C	NP_001129524.1:n.1986+1G>C
NM_001199752.2:c.2019+1G>C	NP_001186681.1:n.2019+1G>C
NM_001199752.3:c.2019+1G>C	NP_001186681.1:n.2019+1G>C
NM_001199753.1:c.2019+1G>C	NP_001186682.1:n.2019+1G>C
NM_001378482.1:c.2085+1G>C	NP_001365411.1:n.2085+1G>C
NM_001378483.1:c.2019+1G>C	NP_001365412.1:n.2019+1G>C
NM_001378484.1:c.2019+1G>C	NP_001365413.1:n.2019+1G>C
NM_001378485.1:c.1986+1G>C	NP_001365414.1:n.1986+1G>C
NM_001378486.1:c.1884+1G>C	NP_001365415.1:n.1884+1G>C
NM_001378487.1:c.1851+1G>C	NP_001365416.1:n.1851+1G>C
NM_001378488.1:c.1884+1G>C	NP_001365417.1:n.1884+1G>C
NM_152359.2:c.2019+1G>C	NP_689572.1:n.2019+1G>C
NM_152359.3:c.2019+1G>C	NP_689572.1:n.2019+1G>C
NR_108072.1:n.2497+1G>C
NR_108072.2:n.2489+1G>C
ENST00000323446.9:c.2019+1G>C	ENSP00000319343.4:n.2019+1G>C
ENST00000392518.8:c.2019+1G>C	ENSP00000376303.4:n.2019+1G>C
ENST00000405931.6:c.1986+1G>C	ENSP00000384465.2:n.1986+1G>C
ENST00000595031.1:c.733-1010G>C	ENSP00000472579.1:n.733-1010G>C
ENST00000595901.5:n.398+1G>C
ENST00000596701.1:n.2569G>C
ENST00000598259.5:c.*1933+1G>C	ENSP00000472742.1:n.*1933+1G>C
ENST00000598293.5:c.2019+1G>C	ENSP00000473028.1:n.2019+1G>C
XM_005258505.2:c.2019+1G>C	XP_005258562.1:n.2019+1G>C
XM_005258506.3:c.2019+1G>C	XP_005258563.1:n.2019+1G>C
XM_005258506.4:c.2019+1G>C	XP_005258563.1:n.2019+1G>C
XM_006723009.2:c.1632+1G>C	XP_006723072.1:n.1632+1G>C
XM_006723009.3:c.1632+1G>C	XP_006723072.1:n.1632+1G>C
XM_011526438.1:c.2019+1G>C	XP_011524740.1:n.2019+1G>C
XM_011526439.1:c.2019+1G>C	XP_011524741.1:n.2019+1G>C
XM_011526440.1:c.1884+1G>C	XP_011524742.1:n.1884+1G>C
XM_011526440.3:c.1884+1G>C	XP_011524742.1:n.1884+1G>C
XM_017026265.1:c.1884+1G>C	XP_016881754.1:n.1884+1G>C
XM_017026266.2:c.1851+1G>C	XP_016881755.1:n.1851+1G>C
XM_017026267.1:c.1533+1G>C	XP_016881756.1:n.1533+1G>C
XM_017026268.1:c.1533+1G>C	XP_016881757.1:n.1533+1G>C
XM_017026269.1:c.1533+1G>C	XP_016881758.1:n.1533+1G>C
XM_017026271.1:c.1500+1G>C	XP_016881760.1:n.1500+1G>C
XM_017026272.1:c.1398+1G>C	XP_016881761.1:n.1398+1G>C
XM_017026273.1:c.1398+1G>C	XP_016881762.1:n.1398+1G>C
XM_024451348.1:c.2118+1G>C	XP_024307116.1:n.2118+1G>C
XM_024451349.1:c.2118+1G>C	XP_024307117.1:n.2118+1G>C
XM_024451350.1:c.2118+1G>C	XP_024307118.1:n.2118+1G>C
XM_024451351.1:c.2118+1G>C	XP_024307119.1:n.2118+1G>C
XM_024451352.1:c.2118+1G>C	XP_024307120.1:n.2118+1G>C
XM_024451353.1:c.2118+1G>C	XP_024307121.1:n.2118+1G>C
XM_024451354.1:c.2118+1G>C	XP_024307122.1:n.2118+1G>C
XM_024451355.1:c.2085+1G>C	XP_024307123.1:n.2085+1G>C
XM_024451356.1:c.1983+1G>C	XP_024307124.1:n.1983+1G>C
XM_024451357.1:c.1632+1G>C	XP_024307125.1:n.1632+1G>C
XM_024451358.1:c.1632+1G>C	XP_024307126.1:n.1632+1G>C