Canonical Allele Identifier: CA364896200

Gene: SNX14

Linked Data

• gnomAD v4: 6-85507234-T-G
• MyVariant Identifiers: chr6:g.86216952T>G (hg19) ; chr6:g.85507234T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.85507234T>G , CM000668.2:g.85507234T>G	GRCh38
NC_000006.11:g.86216952T>G , CM000668.1:g.86216952T>G	GRCh37
NC_000006.10:g.86273671T>G	NCBI36
NG_047171.1:g.91923A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418862.2:c.929A>C	ENSP00000391981.2:p.Lys310Thr
ENST00000508658.6:c.2801A>C	ENSP00000422814.2:p.Lys934Thr
ENST00000509338.6:c.1922A>C	ENSP00000424302.2:p.Lys641Thr
ENST00000514801.2:n.2018A>C
ENST00000515216.6:c.2768A>C	ENSP00000425630.2:p.Lys923Thr
ENST00000681965.1:c.3939A>C	ENSP00000507317.1:n.3939A>C
ENST00000681981.1:c.2717A>C	ENSP00000507672.1:p.Lys906Thr
ENST00000682022.1:c.*2693A>C	ENSP00000508118.1:n.*2693A>C
ENST00000682023.1:c.*2424A>C	ENSP00000507998.1:n.*2424A>C
ENST00000682034.1:c.*1968A>C	ENSP00000506724.1:n.*1968A>C
ENST00000682057.1:c.*2230A>C	ENSP00000507883.1:n.*2230A>C
ENST00000682083.1:c.*2711A>C	ENSP00000506859.1:n.*2711A>C
ENST00000682106.1:n.5315A>C
ENST00000682133.1:c.*364A>C	ENSP00000507001.1:n.*364A>C
ENST00000682171.1:c.2642A>C	ENSP00000508327.1:p.Lys881Thr
ENST00000682174.1:c.*2424A>C	ENSP00000507248.1:n.*2424A>C
ENST00000682374.1:c.*1347A>C	ENSP00000507425.1:n.*1347A>C
ENST00000682412.1:c.2641A>C	ENSP00000507297.1:n.2641A>C
ENST00000682454.1:c.*2164A>C	ENSP00000507851.1:n.*2164A>C
ENST00000682455.1:c.*3779A>C	ENSP00000507586.1:n.*3779A>C
ENST00000682464.1:c.*364A>C	ENSP00000507625.1:n.*364A>C
ENST00000682491.1:c.2513A>C	ENSP00000506970.1:p.Lys838Thr
ENST00000682497.1:c.2798A>C	ENSP00000507869.1:p.Lys933Thr
ENST00000682504.1:c.*2707A>C	ENSP00000507623.1:n.*2707A>C
ENST00000682514.1:n.8588A>C
ENST00000682594.1:n.3417A>C
ENST00000682633.1:c.*364A>C	ENSP00000507843.1:n.*364A>C
ENST00000682660.1:c.2540A>C	ENSP00000507539.1:p.Lys847Thr
ENST00000682682.1:c.2636A>C	ENSP00000507777.1:p.Lys879Thr
ENST00000682688.1:c.*1806A>C	ENSP00000507097.1:n.*1806A>C
ENST00000682694.1:c.*2164A>C	ENSP00000507387.1:n.*2164A>C
ENST00000682709.1:n.8720A>C
ENST00000682738.1:c.2609A>C	ENSP00000507742.1:p.Lys870Thr
ENST00000682776.1:c.*1552A>C	ENSP00000507490.1:n.*1552A>C
ENST00000682854.1:c.*2789A>C	ENSP00000507257.1:n.*2789A>C
ENST00000682878.1:c.*2489A>C	ENSP00000507360.1:n.*2489A>C
ENST00000682926.1:n.2208A>C
ENST00000682939.1:c.2513A>C	ENSP00000506902.1:p.Lys838Thr
ENST00000682991.1:c.2582A>C	ENSP00000508193.1:p.Lys861Thr
ENST00000682995.1:c.*1525A>C	ENSP00000506807.1:n.*1525A>C
ENST00000683073.1:c.*919A>C	ENSP00000507270.1:n.*919A>C
ENST00000683074.1:c.*2711A>C	ENSP00000507008.1:n.*2711A>C
ENST00000683085.1:c.*876A>C	ENSP00000507993.1:n.*876A>C
ENST00000683097.1:c.*1171A>C	ENSP00000507556.1:n.*1171A>C
ENST00000683126.1:c.*2321A>C	ENSP00000507507.1:n.*2321A>C
ENST00000683195.1:c.*2164A>C	ENSP00000508190.1:n.*2164A>C
ENST00000683196.1:c.*2164A>C	ENSP00000508297.1:n.*2164A>C
ENST00000683364.1:c.*2671A>C	ENSP00000507791.1:n.*2671A>C
ENST00000683436.1:c.*1832A>C	ENSP00000506874.1:n.*1832A>C
ENST00000683458.1:c.*1552A>C	ENSP00000508204.1:n.*1552A>C
ENST00000683473.1:n.3912A>C
ENST00000683479.1:c.2801A>C	ENSP00000507368.1:p.Lys934Thr
ENST00000683481.1:c.*1683A>C	ENSP00000507015.1:n.*1683A>C
ENST00000683541.1:c.2798A>C	ENSP00000507116.1:p.Lys933Thr
ENST00000683542.1:c.*2325A>C	ENSP00000506893.1:n.*2325A>C
ENST00000683577.1:c.*364A>C	ENSP00000507516.1:n.*364A>C
ENST00000683583.1:c.*5215A>C	ENSP00000507244.1:n.*5215A>C
ENST00000683643.1:c.2669A>C	ENSP00000507444.1:p.Lys890Thr
ENST00000683698.1:c.*2317A>C	ENSP00000507000.1:n.*2317A>C
ENST00000683726.1:c.*2321A>C	ENSP00000507744.1:n.*2321A>C
ENST00000683754.1:c.2720A>C	ENSP00000507707.1:p.Lys907Thr
ENST00000683763.1:n.1499A>C
ENST00000683785.1:c.2666A>C	ENSP00000507188.1:p.Lys889Thr
ENST00000683803.1:c.*1552A>C	ENSP00000508216.1:n.*1552A>C
ENST00000683857.1:c.*2230A>C	ENSP00000508015.1:n.*2230A>C
ENST00000683873.1:c.*2376A>C	ENSP00000506829.1:n.*2376A>C
ENST00000683878.1:c.*2082A>C	ENSP00000507449.1:n.*2082A>C
ENST00000683880.1:c.*2325A>C	ENSP00000508357.1:n.*2325A>C
ENST00000683898.1:c.2636A>C	ENSP00000506897.1:p.Lys879Thr
ENST00000683909.1:n.4831A>C
ENST00000684017.1:n.8313A>C
ENST00000684108.1:n.8720A>C
ENST00000684118.1:c.2765A>C	ENSP00000507950.1:p.Lys922Thr
ENST00000684150.1:c.2642A>C	ENSP00000507401.1:p.Lys881Thr
ENST00000684220.1:c.*2671A>C	ENSP00000507382.1:n.*2671A>C
ENST00000684239.1:c.*2426A>C	ENSP00000507479.1:n.*2426A>C
ENST00000684273.1:c.*2294A>C	ENSP00000508063.1:n.*2294A>C
ENST00000684281.1:c.2450A>C	ENSP00000507932.1:p.Lys817Thr
ENST00000684299.1:c.*364A>C	ENSP00000507637.1:n.*364A>C
ENST00000684319.1:c.*364A>C	ENSP00000508346.1:n.*364A>C
ENST00000684422.1:c.*2474A>C	ENSP00000507146.1:n.*2474A>C
ENST00000684451.1:c.*2106A>C	ENSP00000507384.1:n.*2106A>C
ENST00000684570.1:c.2864A>C	ENSP00000508127.1:p.Lys955Thr
ENST00000684581.1:c.*622A>C	ENSP00000507294.1:n.*622A>C
ENST00000684647.1:c.2510A>C	ENSP00000506873.1:p.Lys837Thr
ENST00000684680.1:c.2426A>C	ENSP00000507491.1:p.Lys809Thr
ENST00000684717.1:c.2918A>C	ENSP00000507024.1:p.Lys973Thr
ENST00000314673.8:c.2801A>C MANE Select	ENSP00000313121.3:p.Lys934Thr
ENST00000314673.7:c.2801A>C	ENSP00000313121.3:p.Lys934Thr
ENST00000346348.7:c.2642A>C	ENSP00000257769.3:p.Lys881Thr
ENST00000369627.6:c.2774A>C	ENSP00000358641.2:p.Lys925Thr
ENST00000474645.6:n.546A>C
ENST00000503491.5:n.3290A>C
ENST00000505648.5:c.2645A>C	ENSP00000427380.1:p.Lys882Thr
ENST00000508658.5:c.517A>C
ENST00000508980.5:n.3407A>C
ENST00000513865.5:c.1958A>C	ENSP00000420938.1:p.Lys653Thr
NM_001297614.2:c.2774A>C	NP_001284543.1:p.Lys925Thr
NM_001304479.1:c.2645A>C	NP_001291408.1:p.Lys882Thr
NM_020468.5:c.2642A>C	NP_065201.1:p.Lys881Thr
NM_153816.5:c.2801A>C	NP_722523.1:p.Lys934Thr
XM_005248738.3:c.2798A>C	XP_005248795.1:p.Lys933Thr
XM_005248740.3:c.2669A>C	XP_005248797.1:p.Lys890Thr
XM_011535978.1:c.2582A>C	XP_011534280.1:p.Lys861Thr
XM_011535979.1:c.2513A>C	XP_011534281.1:p.Lys838Thr
XM_011535980.1:c.1646A>C	XP_011534282.1:p.Lys549Thr
XR_942523.1:n.2909A>C
NM_001350532.1:c.2864A>C	NP_001337461.1:p.Lys955Thr
NM_001350533.1:c.2798A>C	NP_001337462.1:p.Lys933Thr
NM_001350534.1:c.2771A>C	NP_001337463.1:p.Lys924Thr
NM_001350535.1:c.2765A>C	NP_001337464.1:p.Lys922Thr
NM_001350536.1:c.2669A>C	NP_001337465.1:p.Lys890Thr
NM_001350537.1:c.2666A>C	NP_001337466.1:p.Lys889Thr
NM_001350538.1:c.2657A>C	NP_001337467.1:p.Lys886Thr
NM_001350539.1:c.2642A>C	NP_001337468.1:p.Lys881Thr
NM_001350540.1:c.2636A>C	NP_001337469.1:p.Lys879Thr
NM_001350541.1:c.2609A>C	NP_001337470.1:p.Lys870Thr
NM_001350542.1:c.2513A>C	NP_001337471.1:p.Lys838Thr
NM_001350543.1:c.2510A>C	NP_001337472.1:p.Lys837Thr
NM_001350544.1:c.2501A>C	NP_001337473.1:p.Lys834Thr
NM_001350545.1:c.2357A>C	NP_001337474.1:p.Lys786Thr
NM_001350546.1:c.2357A>C	NP_001337475.1:p.Lys786Thr
NM_001350547.1:c.1751A>C	NP_001337476.1:p.Lys584Thr
NM_001350548.1:c.1646A>C	NP_001337477.1:p.Lys549Thr
NM_001350549.1:c.1646A>C	NP_001337478.1:p.Lys549Thr
NM_001350550.1:c.1646A>C	NP_001337479.1:p.Lys549Thr
NM_001350551.1:c.1646A>C	NP_001337480.1:p.Lys549Thr
NM_001350552.1:c.1646A>C	NP_001337481.1:p.Lys549Thr
NM_001350553.1:c.1619A>C	NP_001337482.1:p.Lys540Thr
NR_146774.1:n.3235A>C
NR_146775.1:n.3238A>C
NR_146776.1:n.3361A>C
NR_146777.1:n.3489A>C
NR_146778.1:n.3493A>C
NR_146779.1:n.3490A>C
XM_017011090.1:c.2642A>C	XP_016866579.1:p.Lys881Thr
XM_024446498.1:c.2510A>C	XP_024302266.1:p.Lys837Thr
XM_024446499.1:c.1646A>C	XP_024302267.1:p.Lys549Thr
NM_153816.6:c.2801A>C MANE Select	NP_722523.1:p.Lys934Thr
NM_001297614.3:c.2774A>C	NP_001284543.1:p.Lys925Thr
NM_001304479.2:c.2645A>C	NP_001291408.1:p.Lys882Thr
NM_001350532.2:c.2864A>C	NP_001337461.1:p.Lys955Thr
NM_001350533.2:c.2798A>C	NP_001337462.1:p.Lys933Thr
NM_001350534.2:c.2771A>C	NP_001337463.1:p.Lys924Thr
NM_001350535.2:c.2765A>C	NP_001337464.1:p.Lys922Thr
NM_001350536.2:c.2669A>C	NP_001337465.1:p.Lys890Thr
NM_001350537.2:c.2666A>C	NP_001337466.1:p.Lys889Thr
NM_001350538.2:c.2657A>C	NP_001337467.1:p.Lys886Thr
NM_001350539.2:c.2642A>C	NP_001337468.1:p.Lys881Thr
NM_001350540.2:c.2636A>C	NP_001337469.1:p.Lys879Thr
NM_001350541.2:c.2609A>C	NP_001337470.1:p.Lys870Thr
NM_001350542.2:c.2513A>C	NP_001337471.1:p.Lys838Thr
NM_001350543.2:c.2510A>C	NP_001337472.1:p.Lys837Thr
NM_001350544.2:c.2501A>C	NP_001337473.1:p.Lys834Thr
NM_001350545.2:c.2357A>C	NP_001337474.1:p.Lys786Thr
NM_001350546.2:c.2357A>C	NP_001337475.1:p.Lys786Thr
NM_001350547.2:c.1751A>C	NP_001337476.1:p.Lys584Thr
NM_001350548.2:c.1646A>C	NP_001337477.1:p.Lys549Thr
NM_001350549.2:c.1646A>C	NP_001337478.1:p.Lys549Thr
NM_001350550.2:c.1646A>C	NP_001337479.1:p.Lys549Thr
NM_001350551.2:c.1646A>C	NP_001337480.1:p.Lys549Thr
NM_001350552.2:c.1646A>C	NP_001337481.1:p.Lys549Thr
NM_001350553.2:c.1619A>C	NP_001337482.1:p.Lys540Thr
NM_020468.6:c.2642A>C	NP_065201.1:p.Lys881Thr
NR_146774.2:n.2937A>C
NR_146775.2:n.2940A>C
NR_146776.2:n.3063A>C
NR_146777.2:n.3191A>C
NR_146778.2:n.3195A>C
NR_146779.2:n.3192A>C