Canonical Allele Identifier: CA3911759

Gene: SNX14

Linked Data

• dbSNP Id: rs749327099
• ExAC: 6:86216960 C / T
• gnomAD v2: 6-86216960-C-T
• gnomAD v4: 6-85507242-C-T
• MyVariant Identifiers: chr6:g.86216960C>T (hg19) ; chr6:g.85507242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.85507242C>T , CM000668.2:g.85507242C>T	GRCh38
NC_000006.11:g.86216960C>T , CM000668.1:g.86216960C>T	GRCh37
NC_000006.10:g.86273679C>T	NCBI36
NG_047171.1:g.91915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418862.2:c.921G>A	ENSP00000391981.2:p.Glu307=
ENST00000508658.6:c.2793G>A	ENSP00000422814.2:p.Glu931=
ENST00000509338.6:c.1914G>A	ENSP00000424302.2:p.Glu638=
ENST00000514801.2:n.2010G>A
ENST00000515216.6:c.2760G>A	ENSP00000425630.2:p.Glu920=
ENST00000681965.1:c.3931G>A	ENSP00000507317.1:n.3931G>A
ENST00000681981.1:c.2709G>A	ENSP00000507672.1:p.Glu903=
ENST00000682022.1:c.*2685G>A	ENSP00000508118.1:n.*2685G>A
ENST00000682023.1:c.*2416G>A	ENSP00000507998.1:n.*2416G>A
ENST00000682034.1:c.*1960G>A	ENSP00000506724.1:n.*1960G>A
ENST00000682057.1:c.*2222G>A	ENSP00000507883.1:n.*2222G>A
ENST00000682083.1:c.*2703G>A	ENSP00000506859.1:n.*2703G>A
ENST00000682106.1:n.5307G>A
ENST00000682133.1:c.*356G>A	ENSP00000507001.1:n.*356G>A
ENST00000682171.1:c.2634G>A	ENSP00000508327.1:p.Glu878=
ENST00000682174.1:c.*2416G>A	ENSP00000507248.1:n.*2416G>A
ENST00000682374.1:c.*1339G>A	ENSP00000507425.1:n.*1339G>A
ENST00000682412.1:c.2633G>A	ENSP00000507297.1:n.2633G>A
ENST00000682454.1:c.*2156G>A	ENSP00000507851.1:n.*2156G>A
ENST00000682455.1:c.*3771G>A	ENSP00000507586.1:n.*3771G>A
ENST00000682464.1:c.*356G>A	ENSP00000507625.1:n.*356G>A
ENST00000682491.1:c.2505G>A	ENSP00000506970.1:p.Glu835=
ENST00000682497.1:c.2790G>A	ENSP00000507869.1:p.Glu930=
ENST00000682504.1:c.*2699G>A	ENSP00000507623.1:n.*2699G>A
ENST00000682514.1:n.8580G>A
ENST00000682594.1:n.3409G>A
ENST00000682633.1:c.*356G>A	ENSP00000507843.1:n.*356G>A
ENST00000682660.1:c.2532G>A	ENSP00000507539.1:p.Glu844=
ENST00000682682.1:c.2628G>A	ENSP00000507777.1:p.Glu876=
ENST00000682688.1:c.*1798G>A	ENSP00000507097.1:n.*1798G>A
ENST00000682694.1:c.*2156G>A	ENSP00000507387.1:n.*2156G>A
ENST00000682709.1:n.8712G>A
ENST00000682738.1:c.2601G>A	ENSP00000507742.1:p.Glu867=
ENST00000682776.1:c.*1544G>A	ENSP00000507490.1:n.*1544G>A
ENST00000682854.1:c.*2781G>A	ENSP00000507257.1:n.*2781G>A
ENST00000682878.1:c.*2481G>A	ENSP00000507360.1:n.*2481G>A
ENST00000682926.1:n.2200G>A
ENST00000682939.1:c.2505G>A	ENSP00000506902.1:p.Glu835=
ENST00000682991.1:c.2574G>A	ENSP00000508193.1:p.Glu858=
ENST00000682995.1:c.*1517G>A	ENSP00000506807.1:n.*1517G>A
ENST00000683073.1:c.*911G>A	ENSP00000507270.1:n.*911G>A
ENST00000683074.1:c.*2703G>A	ENSP00000507008.1:n.*2703G>A
ENST00000683085.1:c.*868G>A	ENSP00000507993.1:n.*868G>A
ENST00000683097.1:c.*1163G>A	ENSP00000507556.1:n.*1163G>A
ENST00000683126.1:c.*2313G>A	ENSP00000507507.1:n.*2313G>A
ENST00000683195.1:c.*2156G>A	ENSP00000508190.1:n.*2156G>A
ENST00000683196.1:c.*2156G>A	ENSP00000508297.1:n.*2156G>A
ENST00000683364.1:c.*2663G>A	ENSP00000507791.1:n.*2663G>A
ENST00000683436.1:c.*1824G>A	ENSP00000506874.1:n.*1824G>A
ENST00000683458.1:c.*1544G>A	ENSP00000508204.1:n.*1544G>A
ENST00000683473.1:n.3904G>A
ENST00000683479.1:c.2793G>A	ENSP00000507368.1:p.Glu931=
ENST00000683481.1:c.*1675G>A	ENSP00000507015.1:n.*1675G>A
ENST00000683541.1:c.2790G>A	ENSP00000507116.1:p.Glu930=
ENST00000683542.1:c.*2317G>A	ENSP00000506893.1:n.*2317G>A
ENST00000683577.1:c.*356G>A	ENSP00000507516.1:n.*356G>A
ENST00000683583.1:c.*5207G>A	ENSP00000507244.1:n.*5207G>A
ENST00000683643.1:c.2661G>A	ENSP00000507444.1:p.Glu887=
ENST00000683698.1:c.*2309G>A	ENSP00000507000.1:n.*2309G>A
ENST00000683726.1:c.*2313G>A	ENSP00000507744.1:n.*2313G>A
ENST00000683754.1:c.2712G>A	ENSP00000507707.1:p.Glu904=
ENST00000683763.1:n.1491G>A
ENST00000683785.1:c.2658G>A	ENSP00000507188.1:p.Glu886=
ENST00000683803.1:c.*1544G>A	ENSP00000508216.1:n.*1544G>A
ENST00000683857.1:c.*2222G>A	ENSP00000508015.1:n.*2222G>A
ENST00000683873.1:c.*2368G>A	ENSP00000506829.1:n.*2368G>A
ENST00000683878.1:c.*2074G>A	ENSP00000507449.1:n.*2074G>A
ENST00000683880.1:c.*2317G>A	ENSP00000508357.1:n.*2317G>A
ENST00000683898.1:c.2628G>A	ENSP00000506897.1:p.Glu876=
ENST00000683909.1:n.4823G>A
ENST00000684017.1:n.8305G>A
ENST00000684108.1:n.8712G>A
ENST00000684118.1:c.2757G>A	ENSP00000507950.1:p.Glu919=
ENST00000684150.1:c.2634G>A	ENSP00000507401.1:p.Glu878=
ENST00000684220.1:c.*2663G>A	ENSP00000507382.1:n.*2663G>A
ENST00000684239.1:c.*2418G>A	ENSP00000507479.1:n.*2418G>A
ENST00000684273.1:c.*2286G>A	ENSP00000508063.1:n.*2286G>A
ENST00000684281.1:c.2442G>A	ENSP00000507932.1:p.Glu814=
ENST00000684299.1:c.*356G>A	ENSP00000507637.1:n.*356G>A
ENST00000684319.1:c.*356G>A	ENSP00000508346.1:n.*356G>A
ENST00000684422.1:c.*2466G>A	ENSP00000507146.1:n.*2466G>A
ENST00000684451.1:c.*2098G>A	ENSP00000507384.1:n.*2098G>A
ENST00000684570.1:c.2856G>A	ENSP00000508127.1:p.Glu952=
ENST00000684581.1:c.*614G>A	ENSP00000507294.1:n.*614G>A
ENST00000684647.1:c.2502G>A	ENSP00000506873.1:p.Glu834=
ENST00000684680.1:c.2418G>A	ENSP00000507491.1:p.Glu806=
ENST00000684717.1:c.2910G>A	ENSP00000507024.1:p.Glu970=
ENST00000314673.8:c.2793G>A MANE Select	ENSP00000313121.3:p.Glu931=
ENST00000314673.7:c.2793G>A	ENSP00000313121.3:p.Glu931=
ENST00000346348.7:c.2634G>A	ENSP00000257769.3:p.Glu878=
ENST00000369627.6:c.2766G>A	ENSP00000358641.2:p.Glu922=
ENST00000474645.6:n.538G>A
ENST00000503491.5:n.3282G>A
ENST00000505648.5:c.2637G>A	ENSP00000427380.1:p.Glu879=
ENST00000508658.5:c.509G>A
ENST00000508980.5:n.3399G>A
ENST00000513865.5:c.1950G>A	ENSP00000420938.1:p.Glu650=
NM_001297614.2:c.2766G>A	NP_001284543.1:p.Glu922=
NM_001304479.1:c.2637G>A	NP_001291408.1:p.Glu879=
NM_020468.5:c.2634G>A	NP_065201.1:p.Glu878=
NM_153816.5:c.2793G>A	NP_722523.1:p.Glu931=
XM_005248738.3:c.2790G>A	XP_005248795.1:p.Glu930=
XM_005248740.3:c.2661G>A	XP_005248797.1:p.Glu887=
XM_011535978.1:c.2574G>A	XP_011534280.1:p.Glu858=
XM_011535979.1:c.2505G>A	XP_011534281.1:p.Glu835=
XM_011535980.1:c.1638G>A	XP_011534282.1:p.Glu546=
XR_942523.1:n.2901G>A
NM_001350532.1:c.2856G>A	NP_001337461.1:p.Glu952=
NM_001350533.1:c.2790G>A	NP_001337462.1:p.Glu930=
NM_001350534.1:c.2763G>A	NP_001337463.1:p.Glu921=
NM_001350535.1:c.2757G>A	NP_001337464.1:p.Glu919=
NM_001350536.1:c.2661G>A	NP_001337465.1:p.Glu887=
NM_001350537.1:c.2658G>A	NP_001337466.1:p.Glu886=
NM_001350538.1:c.2649G>A	NP_001337467.1:p.Glu883=
NM_001350539.1:c.2634G>A	NP_001337468.1:p.Glu878=
NM_001350540.1:c.2628G>A	NP_001337469.1:p.Glu876=
NM_001350541.1:c.2601G>A	NP_001337470.1:p.Glu867=
NM_001350542.1:c.2505G>A	NP_001337471.1:p.Glu835=
NM_001350543.1:c.2502G>A	NP_001337472.1:p.Glu834=
NM_001350544.1:c.2493G>A	NP_001337473.1:p.Glu831=
NM_001350545.1:c.2349G>A	NP_001337474.1:p.Glu783=
NM_001350546.1:c.2349G>A	NP_001337475.1:p.Glu783=
NM_001350547.1:c.1743G>A	NP_001337476.1:p.Glu581=
NM_001350548.1:c.1638G>A	NP_001337477.1:p.Glu546=
NM_001350549.1:c.1638G>A	NP_001337478.1:p.Glu546=
NM_001350550.1:c.1638G>A	NP_001337479.1:p.Glu546=
NM_001350551.1:c.1638G>A	NP_001337480.1:p.Glu546=
NM_001350552.1:c.1638G>A	NP_001337481.1:p.Glu546=
NM_001350553.1:c.1611G>A	NP_001337482.1:p.Glu537=
NR_146774.1:n.3227G>A
NR_146775.1:n.3230G>A
NR_146776.1:n.3353G>A
NR_146777.1:n.3481G>A
NR_146778.1:n.3485G>A
NR_146779.1:n.3482G>A
XM_017011090.1:c.2634G>A	XP_016866579.1:p.Glu878=
XM_024446498.1:c.2502G>A	XP_024302266.1:p.Glu834=
XM_024446499.1:c.1638G>A	XP_024302267.1:p.Glu546=
NM_153816.6:c.2793G>A MANE Select	NP_722523.1:p.Glu931=
NM_001297614.3:c.2766G>A	NP_001284543.1:p.Glu922=
NM_001304479.2:c.2637G>A	NP_001291408.1:p.Glu879=
NM_001350532.2:c.2856G>A	NP_001337461.1:p.Glu952=
NM_001350533.2:c.2790G>A	NP_001337462.1:p.Glu930=
NM_001350534.2:c.2763G>A	NP_001337463.1:p.Glu921=
NM_001350535.2:c.2757G>A	NP_001337464.1:p.Glu919=
NM_001350536.2:c.2661G>A	NP_001337465.1:p.Glu887=
NM_001350537.2:c.2658G>A	NP_001337466.1:p.Glu886=
NM_001350538.2:c.2649G>A	NP_001337467.1:p.Glu883=
NM_001350539.2:c.2634G>A	NP_001337468.1:p.Glu878=
NM_001350540.2:c.2628G>A	NP_001337469.1:p.Glu876=
NM_001350541.2:c.2601G>A	NP_001337470.1:p.Glu867=
NM_001350542.2:c.2505G>A	NP_001337471.1:p.Glu835=
NM_001350543.2:c.2502G>A	NP_001337472.1:p.Glu834=
NM_001350544.2:c.2493G>A	NP_001337473.1:p.Glu831=
NM_001350545.2:c.2349G>A	NP_001337474.1:p.Glu783=
NM_001350546.2:c.2349G>A	NP_001337475.1:p.Glu783=
NM_001350547.2:c.1743G>A	NP_001337476.1:p.Glu581=
NM_001350548.2:c.1638G>A	NP_001337477.1:p.Glu546=
NM_001350549.2:c.1638G>A	NP_001337478.1:p.Glu546=
NM_001350550.2:c.1638G>A	NP_001337479.1:p.Glu546=
NM_001350551.2:c.1638G>A	NP_001337480.1:p.Glu546=
NM_001350552.2:c.1638G>A	NP_001337481.1:p.Glu546=
NM_001350553.2:c.1611G>A	NP_001337482.1:p.Glu537=
NM_020468.6:c.2634G>A	NP_065201.1:p.Glu878=
NR_146774.2:n.2929G>A
NR_146775.2:n.2932G>A
NR_146776.2:n.3055G>A
NR_146777.2:n.3183G>A
NR_146778.2:n.3187G>A
NR_146779.2:n.3184G>A