Canonical Allele Identifier: CA364896280

Gene: SNX14

Linked Data

• gnomAD v4: 6-85507271-C-A
• MyVariant Identifiers: chr6:g.86216989C>A (hg19) ; chr6:g.85507271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.85507271C>A , CM000668.2:g.85507271C>A	GRCh38
NC_000006.11:g.86216989C>A , CM000668.1:g.86216989C>A	GRCh37
NC_000006.10:g.86273708C>A	NCBI36
NG_047171.1:g.91886G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418862.2:c.892G>T	ENSP00000391981.2:p.Asp298Tyr
ENST00000508658.6:c.2764G>T	ENSP00000422814.2:p.Asp922Tyr
ENST00000509338.6:c.1885G>T	ENSP00000424302.2:p.Asp629Tyr
ENST00000514801.2:n.1981G>T
ENST00000515216.6:c.2746-15G>T	ENSP00000425630.2:n.2746-15G>T
ENST00000681965.1:c.3902G>T	ENSP00000507317.1:n.3902G>T
ENST00000681981.1:c.2680G>T	ENSP00000507672.1:p.Asp894Tyr
ENST00000682022.1:c.*2656G>T	ENSP00000508118.1:n.*2656G>T
ENST00000682023.1:c.*2387G>T	ENSP00000507998.1:n.*2387G>T
ENST00000682034.1:c.*1931G>T	ENSP00000506724.1:n.*1931G>T
ENST00000682057.1:c.*2193G>T	ENSP00000507883.1:n.*2193G>T
ENST00000682083.1:c.*2674G>T	ENSP00000506859.1:n.*2674G>T
ENST00000682106.1:n.5278G>T
ENST00000682133.1:c.*327G>T	ENSP00000507001.1:n.*327G>T
ENST00000682171.1:c.2605G>T	ENSP00000508327.1:p.Asp869Tyr
ENST00000682174.1:c.*2387G>T	ENSP00000507248.1:n.*2387G>T
ENST00000682374.1:c.*1310G>T	ENSP00000507425.1:n.*1310G>T
ENST00000682412.1:c.2604G>T	ENSP00000507297.1:n.2604G>T
ENST00000682454.1:c.*2127G>T	ENSP00000507851.1:n.*2127G>T
ENST00000682455.1:c.*3742G>T	ENSP00000507586.1:n.*3742G>T
ENST00000682464.1:c.*327G>T	ENSP00000507625.1:n.*327G>T
ENST00000682491.1:c.2476G>T	ENSP00000506970.1:p.Asp826Tyr
ENST00000682497.1:c.2761G>T	ENSP00000507869.1:p.Asp921Tyr
ENST00000682504.1:c.*2670G>T	ENSP00000507623.1:n.*2670G>T
ENST00000682514.1:n.8551G>T
ENST00000682594.1:n.3380G>T
ENST00000682633.1:c.*327G>T	ENSP00000507843.1:n.*327G>T
ENST00000682660.1:c.2503G>T	ENSP00000507539.1:p.Asp835Tyr
ENST00000682682.1:c.2599G>T	ENSP00000507777.1:p.Asp867Tyr
ENST00000682688.1:c.*1769G>T	ENSP00000507097.1:n.*1769G>T
ENST00000682694.1:c.*2127G>T	ENSP00000507387.1:n.*2127G>T
ENST00000682709.1:n.8683G>T
ENST00000682738.1:c.2572G>T	ENSP00000507742.1:p.Asp858Tyr
ENST00000682776.1:c.*1515G>T	ENSP00000507490.1:n.*1515G>T
ENST00000682854.1:c.*2752G>T	ENSP00000507257.1:n.*2752G>T
ENST00000682878.1:c.*2452G>T	ENSP00000507360.1:n.*2452G>T
ENST00000682926.1:n.2171G>T
ENST00000682939.1:c.2476G>T	ENSP00000506902.1:p.Asp826Tyr
ENST00000682991.1:c.2545G>T	ENSP00000508193.1:p.Asp849Tyr
ENST00000682995.1:c.*1488G>T	ENSP00000506807.1:n.*1488G>T
ENST00000683073.1:c.*882G>T	ENSP00000507270.1:n.*882G>T
ENST00000683074.1:c.*2674G>T	ENSP00000507008.1:n.*2674G>T
ENST00000683085.1:c.*839G>T	ENSP00000507993.1:n.*839G>T
ENST00000683097.1:c.*1134G>T	ENSP00000507556.1:n.*1134G>T
ENST00000683126.1:c.*2284G>T	ENSP00000507507.1:n.*2284G>T
ENST00000683195.1:c.*2127G>T	ENSP00000508190.1:n.*2127G>T
ENST00000683196.1:c.*2127G>T	ENSP00000508297.1:n.*2127G>T
ENST00000683364.1:c.*2634G>T	ENSP00000507791.1:n.*2634G>T
ENST00000683436.1:c.*1795G>T	ENSP00000506874.1:n.*1795G>T
ENST00000683458.1:c.*1515G>T	ENSP00000508204.1:n.*1515G>T
ENST00000683473.1:n.3875G>T
ENST00000683479.1:c.2764G>T	ENSP00000507368.1:p.Asp922Tyr
ENST00000683481.1:c.*1646G>T	ENSP00000507015.1:n.*1646G>T
ENST00000683541.1:c.2761G>T	ENSP00000507116.1:p.Asp921Tyr
ENST00000683542.1:c.*2288G>T	ENSP00000506893.1:n.*2288G>T
ENST00000683577.1:c.*327G>T	ENSP00000507516.1:n.*327G>T
ENST00000683583.1:c.*5178G>T	ENSP00000507244.1:n.*5178G>T
ENST00000683643.1:c.2632G>T	ENSP00000507444.1:p.Asp878Tyr
ENST00000683698.1:c.*2280G>T	ENSP00000507000.1:n.*2280G>T
ENST00000683726.1:c.*2284G>T	ENSP00000507744.1:n.*2284G>T
ENST00000683754.1:c.2683G>T	ENSP00000507707.1:p.Asp895Tyr
ENST00000683763.1:n.1462G>T
ENST00000683785.1:c.2629G>T	ENSP00000507188.1:p.Asp877Tyr
ENST00000683803.1:c.*1515G>T	ENSP00000508216.1:n.*1515G>T
ENST00000683857.1:c.*2193G>T	ENSP00000508015.1:n.*2193G>T
ENST00000683873.1:c.*2339G>T	ENSP00000506829.1:n.*2339G>T
ENST00000683878.1:c.*2045G>T	ENSP00000507449.1:n.*2045G>T
ENST00000683880.1:c.*2288G>T	ENSP00000508357.1:n.*2288G>T
ENST00000683898.1:c.2599G>T	ENSP00000506897.1:p.Asp867Tyr
ENST00000683909.1:n.4794G>T
ENST00000684017.1:n.8276G>T
ENST00000684108.1:n.8683G>T
ENST00000684118.1:c.2743-15G>T	ENSP00000507950.1:n.2743-15G>T
ENST00000684150.1:c.2605G>T	ENSP00000507401.1:p.Asp869Tyr
ENST00000684220.1:c.*2634G>T	ENSP00000507382.1:n.*2634G>T
ENST00000684239.1:c.*2389G>T	ENSP00000507479.1:n.*2389G>T
ENST00000684273.1:c.*2257G>T	ENSP00000508063.1:n.*2257G>T
ENST00000684281.1:c.2413G>T	ENSP00000507932.1:p.Asp805Tyr
ENST00000684299.1:c.*327G>T	ENSP00000507637.1:n.*327G>T
ENST00000684319.1:c.*327G>T	ENSP00000508346.1:n.*327G>T
ENST00000684422.1:c.*2437G>T	ENSP00000507146.1:n.*2437G>T
ENST00000684451.1:c.*2069G>T	ENSP00000507384.1:n.*2069G>T
ENST00000684570.1:c.2827G>T	ENSP00000508127.1:p.Asp943Tyr
ENST00000684581.1:c.*585G>T	ENSP00000507294.1:n.*585G>T
ENST00000684647.1:c.2473G>T	ENSP00000506873.1:p.Asp825Tyr
ENST00000684680.1:c.2389G>T	ENSP00000507491.1:p.Asp797Tyr
ENST00000684717.1:c.2881G>T	ENSP00000507024.1:p.Asp961Tyr
ENST00000314673.8:c.2764G>T MANE Select	ENSP00000313121.3:p.Asp922Tyr
ENST00000314673.7:c.2764G>T	ENSP00000313121.3:p.Asp922Tyr
ENST00000346348.7:c.2605G>T	ENSP00000257769.3:p.Asp869Tyr
ENST00000369627.6:c.2737G>T	ENSP00000358641.2:p.Asp913Tyr
ENST00000474645.6:n.509G>T
ENST00000503491.5:n.3253G>T
ENST00000505648.5:c.2608G>T	ENSP00000427380.1:p.Asp870Tyr
ENST00000508658.5:c.480G>T
ENST00000508980.5:n.3370G>T
ENST00000513865.5:c.1921G>T	ENSP00000420938.1:p.Asp641Tyr
NM_001297614.2:c.2737G>T	NP_001284543.1:p.Asp913Tyr
NM_001304479.1:c.2608G>T	NP_001291408.1:p.Asp870Tyr
NM_020468.5:c.2605G>T	NP_065201.1:p.Asp869Tyr
NM_153816.5:c.2764G>T	NP_722523.1:p.Asp922Tyr
XM_005248738.3:c.2761G>T	XP_005248795.1:p.Asp921Tyr
XM_005248740.3:c.2632G>T	XP_005248797.1:p.Asp878Tyr
XM_011535978.1:c.2545G>T	XP_011534280.1:p.Asp849Tyr
XM_011535979.1:c.2476G>T	XP_011534281.1:p.Asp826Tyr
XM_011535980.1:c.1609G>T	XP_011534282.1:p.Asp537Tyr
XR_942523.1:n.2872G>T
NM_001350532.1:c.2827G>T	NP_001337461.1:p.Asp943Tyr
NM_001350533.1:c.2761G>T	NP_001337462.1:p.Asp921Tyr
NM_001350534.1:c.2734G>T	NP_001337463.1:p.Asp912Tyr
NM_001350535.1:c.2743-15G>T	NP_001337464.1:n.2743-15G>T
NM_001350536.1:c.2632G>T	NP_001337465.1:p.Asp878Tyr
NM_001350537.1:c.2629G>T	NP_001337466.1:p.Asp877Tyr
NM_001350538.1:c.2620G>T	NP_001337467.1:p.Asp874Tyr
NM_001350539.1:c.2605G>T	NP_001337468.1:p.Asp869Tyr
NM_001350540.1:c.2599G>T	NP_001337469.1:p.Asp867Tyr
NM_001350541.1:c.2572G>T	NP_001337470.1:p.Asp858Tyr
NM_001350542.1:c.2476G>T	NP_001337471.1:p.Asp826Tyr
NM_001350543.1:c.2473G>T	NP_001337472.1:p.Asp825Tyr
NM_001350544.1:c.2464G>T	NP_001337473.1:p.Asp822Tyr
NM_001350545.1:c.2320G>T	NP_001337474.1:p.Asp774Tyr
NM_001350546.1:c.2320G>T	NP_001337475.1:p.Asp774Tyr
NM_001350547.1:c.1714G>T	NP_001337476.1:p.Asp572Tyr
NM_001350548.1:c.1609G>T	NP_001337477.1:p.Asp537Tyr
NM_001350549.1:c.1609G>T	NP_001337478.1:p.Asp537Tyr
NM_001350550.1:c.1609G>T	NP_001337479.1:p.Asp537Tyr
NM_001350551.1:c.1609G>T	NP_001337480.1:p.Asp537Tyr
NM_001350552.1:c.1609G>T	NP_001337481.1:p.Asp537Tyr
NM_001350553.1:c.1582G>T	NP_001337482.1:p.Asp528Tyr
NR_146774.1:n.3198G>T
NR_146775.1:n.3201G>T
NR_146776.1:n.3324G>T
NR_146777.1:n.3452G>T
NR_146778.1:n.3456G>T
NR_146779.1:n.3453G>T
XM_017011090.1:c.2605G>T	XP_016866579.1:p.Asp869Tyr
XM_024446498.1:c.2473G>T	XP_024302266.1:p.Asp825Tyr
XM_024446499.1:c.1609G>T	XP_024302267.1:p.Asp537Tyr
NM_153816.6:c.2764G>T MANE Select	NP_722523.1:p.Asp922Tyr
NM_001297614.3:c.2737G>T	NP_001284543.1:p.Asp913Tyr
NM_001304479.2:c.2608G>T	NP_001291408.1:p.Asp870Tyr
NM_001350532.2:c.2827G>T	NP_001337461.1:p.Asp943Tyr
NM_001350533.2:c.2761G>T	NP_001337462.1:p.Asp921Tyr
NM_001350534.2:c.2734G>T	NP_001337463.1:p.Asp912Tyr
NM_001350535.2:c.2743-15G>T	NP_001337464.1:n.2743-15G>T
NM_001350536.2:c.2632G>T	NP_001337465.1:p.Asp878Tyr
NM_001350537.2:c.2629G>T	NP_001337466.1:p.Asp877Tyr
NM_001350538.2:c.2620G>T	NP_001337467.1:p.Asp874Tyr
NM_001350539.2:c.2605G>T	NP_001337468.1:p.Asp869Tyr
NM_001350540.2:c.2599G>T	NP_001337469.1:p.Asp867Tyr
NM_001350541.2:c.2572G>T	NP_001337470.1:p.Asp858Tyr
NM_001350542.2:c.2476G>T	NP_001337471.1:p.Asp826Tyr
NM_001350543.2:c.2473G>T	NP_001337472.1:p.Asp825Tyr
NM_001350544.2:c.2464G>T	NP_001337473.1:p.Asp822Tyr
NM_001350545.2:c.2320G>T	NP_001337474.1:p.Asp774Tyr
NM_001350546.2:c.2320G>T	NP_001337475.1:p.Asp774Tyr
NM_001350547.2:c.1714G>T	NP_001337476.1:p.Asp572Tyr
NM_001350548.2:c.1609G>T	NP_001337477.1:p.Asp537Tyr
NM_001350549.2:c.1609G>T	NP_001337478.1:p.Asp537Tyr
NM_001350550.2:c.1609G>T	NP_001337479.1:p.Asp537Tyr
NM_001350551.2:c.1609G>T	NP_001337480.1:p.Asp537Tyr
NM_001350552.2:c.1609G>T	NP_001337481.1:p.Asp537Tyr
NM_001350553.2:c.1582G>T	NP_001337482.1:p.Asp528Tyr
NM_020468.6:c.2605G>T	NP_065201.1:p.Asp869Tyr
NR_146774.2:n.2900G>T
NR_146775.2:n.2903G>T
NR_146776.2:n.3026G>T
NR_146777.2:n.3154G>T
NR_146778.2:n.3158G>T
NR_146779.2:n.3155G>T