Canonical Allele Identifier: CA364896286

Gene: SNX14

Linked Data

• MyVariant Identifiers: chr6:g.86216991A>G (hg19) ; chr6:g.85507273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.85507273A>G , CM000668.2:g.85507273A>G	GRCh38
NC_000006.11:g.86216991A>G , CM000668.1:g.86216991A>G	GRCh37
NC_000006.10:g.86273710A>G	NCBI36
NG_047171.1:g.91884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000418862.2:c.890T>C	ENSP00000391981.2:p.Leu297Ser
ENST00000508658.6:c.2762T>C	ENSP00000422814.2:p.Leu921Ser
ENST00000509338.6:c.1883T>C	ENSP00000424302.2:p.Leu628Ser
ENST00000514801.2:n.1979T>C
ENST00000515216.6:c.2746-17T>C	ENSP00000425630.2:n.2746-17T>C
ENST00000681965.1:c.3900T>C	ENSP00000507317.1:n.3900T>C
ENST00000681981.1:c.2678T>C	ENSP00000507672.1:p.Leu893Ser
ENST00000682022.1:c.*2654T>C	ENSP00000508118.1:n.*2654T>C
ENST00000682023.1:c.*2385T>C	ENSP00000507998.1:n.*2385T>C
ENST00000682034.1:c.*1929T>C	ENSP00000506724.1:n.*1929T>C
ENST00000682057.1:c.*2191T>C	ENSP00000507883.1:n.*2191T>C
ENST00000682083.1:c.*2672T>C	ENSP00000506859.1:n.*2672T>C
ENST00000682106.1:n.5276T>C
ENST00000682133.1:c.*325T>C	ENSP00000507001.1:n.*325T>C
ENST00000682171.1:c.2603T>C	ENSP00000508327.1:p.Leu868Ser
ENST00000682174.1:c.*2385T>C	ENSP00000507248.1:n.*2385T>C
ENST00000682374.1:c.*1308T>C	ENSP00000507425.1:n.*1308T>C
ENST00000682412.1:c.2602T>C	ENSP00000507297.1:n.2602T>C
ENST00000682454.1:c.*2125T>C	ENSP00000507851.1:n.*2125T>C
ENST00000682455.1:c.*3740T>C	ENSP00000507586.1:n.*3740T>C
ENST00000682464.1:c.*325T>C	ENSP00000507625.1:n.*325T>C
ENST00000682491.1:c.2474T>C	ENSP00000506970.1:p.Leu825Ser
ENST00000682497.1:c.2759T>C	ENSP00000507869.1:p.Leu920Ser
ENST00000682504.1:c.*2668T>C	ENSP00000507623.1:n.*2668T>C
ENST00000682514.1:n.8549T>C
ENST00000682594.1:n.3378T>C
ENST00000682633.1:c.*325T>C	ENSP00000507843.1:n.*325T>C
ENST00000682660.1:c.2501T>C	ENSP00000507539.1:p.Leu834Ser
ENST00000682682.1:c.2597T>C	ENSP00000507777.1:p.Leu866Ser
ENST00000682688.1:c.*1767T>C	ENSP00000507097.1:n.*1767T>C
ENST00000682694.1:c.*2125T>C	ENSP00000507387.1:n.*2125T>C
ENST00000682709.1:n.8681T>C
ENST00000682738.1:c.2570T>C	ENSP00000507742.1:p.Leu857Ser
ENST00000682776.1:c.*1513T>C	ENSP00000507490.1:n.*1513T>C
ENST00000682854.1:c.*2750T>C	ENSP00000507257.1:n.*2750T>C
ENST00000682878.1:c.*2450T>C	ENSP00000507360.1:n.*2450T>C
ENST00000682926.1:n.2169T>C
ENST00000682939.1:c.2474T>C	ENSP00000506902.1:p.Leu825Ser
ENST00000682991.1:c.2543T>C	ENSP00000508193.1:p.Leu848Ser
ENST00000682995.1:c.*1486T>C	ENSP00000506807.1:n.*1486T>C
ENST00000683073.1:c.*880T>C	ENSP00000507270.1:n.*880T>C
ENST00000683074.1:c.*2672T>C	ENSP00000507008.1:n.*2672T>C
ENST00000683085.1:c.*837T>C	ENSP00000507993.1:n.*837T>C
ENST00000683097.1:c.*1132T>C	ENSP00000507556.1:n.*1132T>C
ENST00000683126.1:c.*2282T>C	ENSP00000507507.1:n.*2282T>C
ENST00000683195.1:c.*2125T>C	ENSP00000508190.1:n.*2125T>C
ENST00000683196.1:c.*2125T>C	ENSP00000508297.1:n.*2125T>C
ENST00000683364.1:c.*2632T>C	ENSP00000507791.1:n.*2632T>C
ENST00000683436.1:c.*1793T>C	ENSP00000506874.1:n.*1793T>C
ENST00000683458.1:c.*1513T>C	ENSP00000508204.1:n.*1513T>C
ENST00000683473.1:n.3873T>C
ENST00000683479.1:c.2762T>C	ENSP00000507368.1:p.Leu921Ser
ENST00000683481.1:c.*1644T>C	ENSP00000507015.1:n.*1644T>C
ENST00000683541.1:c.2759T>C	ENSP00000507116.1:p.Leu920Ser
ENST00000683542.1:c.*2286T>C	ENSP00000506893.1:n.*2286T>C
ENST00000683577.1:c.*325T>C	ENSP00000507516.1:n.*325T>C
ENST00000683583.1:c.*5176T>C	ENSP00000507244.1:n.*5176T>C
ENST00000683643.1:c.2630T>C	ENSP00000507444.1:p.Leu877Ser
ENST00000683698.1:c.*2278T>C	ENSP00000507000.1:n.*2278T>C
ENST00000683726.1:c.*2282T>C	ENSP00000507744.1:n.*2282T>C
ENST00000683754.1:c.2681T>C	ENSP00000507707.1:p.Leu894Ser
ENST00000683763.1:n.1460T>C
ENST00000683785.1:c.2627T>C	ENSP00000507188.1:p.Leu876Ser
ENST00000683803.1:c.*1513T>C	ENSP00000508216.1:n.*1513T>C
ENST00000683857.1:c.*2191T>C	ENSP00000508015.1:n.*2191T>C
ENST00000683873.1:c.*2337T>C	ENSP00000506829.1:n.*2337T>C
ENST00000683878.1:c.*2043T>C	ENSP00000507449.1:n.*2043T>C
ENST00000683880.1:c.*2286T>C	ENSP00000508357.1:n.*2286T>C
ENST00000683898.1:c.2597T>C	ENSP00000506897.1:p.Leu866Ser
ENST00000683909.1:n.4792T>C
ENST00000684017.1:n.8274T>C
ENST00000684108.1:n.8681T>C
ENST00000684118.1:c.2743-17T>C	ENSP00000507950.1:n.2743-17T>C
ENST00000684150.1:c.2603T>C	ENSP00000507401.1:p.Leu868Ser
ENST00000684220.1:c.*2632T>C	ENSP00000507382.1:n.*2632T>C
ENST00000684239.1:c.*2387T>C	ENSP00000507479.1:n.*2387T>C
ENST00000684273.1:c.*2255T>C	ENSP00000508063.1:n.*2255T>C
ENST00000684281.1:c.2411T>C	ENSP00000507932.1:p.Leu804Ser
ENST00000684299.1:c.*325T>C	ENSP00000507637.1:n.*325T>C
ENST00000684319.1:c.*325T>C	ENSP00000508346.1:n.*325T>C
ENST00000684422.1:c.*2435T>C	ENSP00000507146.1:n.*2435T>C
ENST00000684451.1:c.*2067T>C	ENSP00000507384.1:n.*2067T>C
ENST00000684570.1:c.2825T>C	ENSP00000508127.1:p.Leu942Ser
ENST00000684581.1:c.*583T>C	ENSP00000507294.1:n.*583T>C
ENST00000684647.1:c.2471T>C	ENSP00000506873.1:p.Leu824Ser
ENST00000684680.1:c.2387T>C	ENSP00000507491.1:p.Leu796Ser
ENST00000684717.1:c.2879T>C	ENSP00000507024.1:p.Leu960Ser
ENST00000314673.8:c.2762T>C MANE Select	ENSP00000313121.3:p.Leu921Ser
ENST00000314673.7:c.2762T>C	ENSP00000313121.3:p.Leu921Ser
ENST00000346348.7:c.2603T>C	ENSP00000257769.3:p.Leu868Ser
ENST00000369627.6:c.2735T>C	ENSP00000358641.2:p.Leu912Ser
ENST00000474645.6:n.507T>C
ENST00000503491.5:n.3251T>C
ENST00000505648.5:c.2606T>C	ENSP00000427380.1:p.Leu869Ser
ENST00000508658.5:c.478T>C
ENST00000508980.5:n.3368T>C
ENST00000513865.5:c.1919T>C	ENSP00000420938.1:p.Leu640Ser
NM_001297614.2:c.2735T>C	NP_001284543.1:p.Leu912Ser
NM_001304479.1:c.2606T>C	NP_001291408.1:p.Leu869Ser
NM_020468.5:c.2603T>C	NP_065201.1:p.Leu868Ser
NM_153816.5:c.2762T>C	NP_722523.1:p.Leu921Ser
XM_005248738.3:c.2759T>C	XP_005248795.1:p.Leu920Ser
XM_005248740.3:c.2630T>C	XP_005248797.1:p.Leu877Ser
XM_011535978.1:c.2543T>C	XP_011534280.1:p.Leu848Ser
XM_011535979.1:c.2474T>C	XP_011534281.1:p.Leu825Ser
XM_011535980.1:c.1607T>C	XP_011534282.1:p.Leu536Ser
XR_942523.1:n.2870T>C
NM_001350532.1:c.2825T>C	NP_001337461.1:p.Leu942Ser
NM_001350533.1:c.2759T>C	NP_001337462.1:p.Leu920Ser
NM_001350534.1:c.2732T>C	NP_001337463.1:p.Leu911Ser
NM_001350535.1:c.2743-17T>C	NP_001337464.1:n.2743-17T>C
NM_001350536.1:c.2630T>C	NP_001337465.1:p.Leu877Ser
NM_001350537.1:c.2627T>C	NP_001337466.1:p.Leu876Ser
NM_001350538.1:c.2618T>C	NP_001337467.1:p.Leu873Ser
NM_001350539.1:c.2603T>C	NP_001337468.1:p.Leu868Ser
NM_001350540.1:c.2597T>C	NP_001337469.1:p.Leu866Ser
NM_001350541.1:c.2570T>C	NP_001337470.1:p.Leu857Ser
NM_001350542.1:c.2474T>C	NP_001337471.1:p.Leu825Ser
NM_001350543.1:c.2471T>C	NP_001337472.1:p.Leu824Ser
NM_001350544.1:c.2462T>C	NP_001337473.1:p.Leu821Ser
NM_001350545.1:c.2318T>C	NP_001337474.1:p.Leu773Ser
NM_001350546.1:c.2318T>C	NP_001337475.1:p.Leu773Ser
NM_001350547.1:c.1712T>C	NP_001337476.1:p.Leu571Ser
NM_001350548.1:c.1607T>C	NP_001337477.1:p.Leu536Ser
NM_001350549.1:c.1607T>C	NP_001337478.1:p.Leu536Ser
NM_001350550.1:c.1607T>C	NP_001337479.1:p.Leu536Ser
NM_001350551.1:c.1607T>C	NP_001337480.1:p.Leu536Ser
NM_001350552.1:c.1607T>C	NP_001337481.1:p.Leu536Ser
NM_001350553.1:c.1580T>C	NP_001337482.1:p.Leu527Ser
NR_146774.1:n.3196T>C
NR_146775.1:n.3199T>C
NR_146776.1:n.3322T>C
NR_146777.1:n.3450T>C
NR_146778.1:n.3454T>C
NR_146779.1:n.3451T>C
XM_017011090.1:c.2603T>C	XP_016866579.1:p.Leu868Ser
XM_024446498.1:c.2471T>C	XP_024302266.1:p.Leu824Ser
XM_024446499.1:c.1607T>C	XP_024302267.1:p.Leu536Ser
NM_153816.6:c.2762T>C MANE Select	NP_722523.1:p.Leu921Ser
NM_001297614.3:c.2735T>C	NP_001284543.1:p.Leu912Ser
NM_001304479.2:c.2606T>C	NP_001291408.1:p.Leu869Ser
NM_001350532.2:c.2825T>C	NP_001337461.1:p.Leu942Ser
NM_001350533.2:c.2759T>C	NP_001337462.1:p.Leu920Ser
NM_001350534.2:c.2732T>C	NP_001337463.1:p.Leu911Ser
NM_001350535.2:c.2743-17T>C	NP_001337464.1:n.2743-17T>C
NM_001350536.2:c.2630T>C	NP_001337465.1:p.Leu877Ser
NM_001350537.2:c.2627T>C	NP_001337466.1:p.Leu876Ser
NM_001350538.2:c.2618T>C	NP_001337467.1:p.Leu873Ser
NM_001350539.2:c.2603T>C	NP_001337468.1:p.Leu868Ser
NM_001350540.2:c.2597T>C	NP_001337469.1:p.Leu866Ser
NM_001350541.2:c.2570T>C	NP_001337470.1:p.Leu857Ser
NM_001350542.2:c.2474T>C	NP_001337471.1:p.Leu825Ser
NM_001350543.2:c.2471T>C	NP_001337472.1:p.Leu824Ser
NM_001350544.2:c.2462T>C	NP_001337473.1:p.Leu821Ser
NM_001350545.2:c.2318T>C	NP_001337474.1:p.Leu773Ser
NM_001350546.2:c.2318T>C	NP_001337475.1:p.Leu773Ser
NM_001350547.2:c.1712T>C	NP_001337476.1:p.Leu571Ser
NM_001350548.2:c.1607T>C	NP_001337477.1:p.Leu536Ser
NM_001350549.2:c.1607T>C	NP_001337478.1:p.Leu536Ser
NM_001350550.2:c.1607T>C	NP_001337479.1:p.Leu536Ser
NM_001350551.2:c.1607T>C	NP_001337480.1:p.Leu536Ser
NM_001350552.2:c.1607T>C	NP_001337481.1:p.Leu536Ser
NM_001350553.2:c.1580T>C	NP_001337482.1:p.Leu527Ser
NM_020468.6:c.2603T>C	NP_065201.1:p.Leu868Ser
NR_146774.2:n.2898T>C
NR_146775.2:n.2901T>C
NR_146776.2:n.3024T>C
NR_146777.2:n.3152T>C
NR_146778.2:n.3156T>C
NR_146779.2:n.3153T>C