Linked Data
ClinVar Variation Id:
510229
dbSNP Id:
rs201629827
ExAC:
8:68102960 A / G
gnomAD v2:
8-68102960-A-G
gnomAD v3:
8-67190725-A-G
gnomAD v4:
8-67190725-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67190725A>G , CM000670.2:g.67190725A>G | GRCh38 |
| NC_000008.10:g.68102960A>G , CM000670.1:g.68102960A>G | GRCh37 |
| NC_000008.9:g.68265514A>G | NCBI36 |
| NG_034100.1:g.131358A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.3362A>G (CSPP1) | ENSP00000262210.6:p.Glu1121Gly | |
| ENST00000521324.3:c.1364A>G (CSPP1) | ||
| ENST00000674993.1:c.3386A>G (CSPP1) | ENSP00000502454.1:p.Glu1129Gly | |
| ENST00000675306.2:c.3020A>G (CSPP1) | ENSP00000502421.1:p.Glu1007Gly | |
| ENST00000675869.1:c.3101A>G (CSPP1) | ENSP00000502747.1:p.Glu1034Gly | |
| ENST00000675955.1:c.3215A>G (CSPP1) | ENSP00000501676.1:p.Glu1072Gly | |
| ENST00000675990.1:n.4625A>G (CSPP1) | ||
| ENST00000676113.1:c.3254A>G (CSPP1) | ENSP00000501645.1:p.Glu1085Gly | |
| ENST00000676317.1:c.3281A>G (CSPP1) | ENSP00000502047.1:p.Glu1094Gly | |
| ENST00000676471.1:c.3029A>G (CSPP1) | ENSP00000503711.1:p.Glu1010Gly | |
| ENST00000676573.1:c.2597A>G (CSPP1) | ENSP00000504532.1:p.Glu866Gly | |
| ENST00000676605.1:c.3404A>G (CSPP1) | ENSP00000503605.1:p.Glu1135Gly | |
| ENST00000676804.1:c.1804A>G (CSPP1) | ||
| ENST00000676847.1:c.3275A>G (CSPP1) | ENSP00000503336.1:p.Glu1092Gly | |
| ENST00000676858.1:c.*1257A>G (CSPP1) | ENSP00000502925.1:n.*1257A>G | |
| ENST00000676882.1:c.3182A>G (CSPP1) | ENSP00000504342.1:p.Glu1061Gly | |
| ENST00000676968.1:c.1343A>G (CSPP1) | ||
| ENST00000676980.1:n.437A>G (CSPP1) | ||
| ENST00000677009.1:c.3142-4657A>G (CSPP1) | ENSP00000503297.1:n.3142-4657A>G | |
| ENST00000677052.1:n.2794A>G (CSPP1) | ||
| ENST00000677131.1:c.1168A>G (CSPP1) | ||
| ENST00000677256.1:c.*3015A>G (CSPP1) | ENSP00000504102.1:n.*3015A>G | |
| ENST00000677430.1:c.*888A>G (CSPP1) | ENSP00000504177.1:n.*888A>G | |
| ENST00000677473.1:c.*1312A>G (CSPP1) | ENSP00000503534.1:n.*1312A>G | |
| ENST00000677538.1:n.678A>G (CSPP1) | ||
| ENST00000677592.1:c.3263A>G (CSPP1) | ENSP00000504516.1:p.Glu1088Gly | |
| ENST00000677619.1:c.2642A>G (CSPP1) | ENSP00000504522.1:p.Glu881Gly | |
| ENST00000677697.1:n.1259A>G (CSPP1) | ||
| ENST00000677845.1:c.*1667A>G (CSPP1) | ENSP00000503524.1:n.*1667A>G | |
| ENST00000677855.1:c.2604A>G (CSPP1) | ENSP00000504757.1:n.2604A>G | |
| ENST00000677964.1:c.1293A>G (CSPP1) | ||
| ENST00000678017.1:c.2147A>G (CSPP1) | ENSP00000504394.1:p.Glu716Gly | |
| ENST00000678318.1:c.2831A>G (CSPP1) | ENSP00000503690.1:p.Glu944Gly | |
| ENST00000678542.1:c.3404A>G (CSPP1) | ENSP00000503878.1:p.Glu1135Gly | |
| ENST00000678616.1:c.3296A>G (CSPP1) MANE Select | ENSP00000504733.1:p.Glu1099Gly | |
| ENST00000678635.1:n.1791A>G (CSPP1) | ||
| ENST00000678645.1:c.3173A>G (CSPP1) | ENSP00000504031.1:p.Glu1058Gly | |
| ENST00000678723.1:c.1168A>G (CSPP1) | ||
| ENST00000678747.1:c.2723A>G (CSPP1) | ENSP00000503390.1:p.Glu908Gly | |
| ENST00000678834.1:n.801A>G (CSPP1) | ||
| ENST00000678895.1:c.1168A>G (CSPP1) | ||
| ENST00000679060.1:n.421A>G (CSPP1) | ||
| ENST00000679112.1:c.*3195A>G (CSPP1) | ENSP00000503739.1:n.*3195A>G | |
| ENST00000679226.1:c.2909A>G (CSPP1) | ENSP00000503601.1:p.Glu970Gly | |
| ENST00000679274.1:n.2220A>G (CSPP1) | ||
| ENST00000679295.1:n.2267A>G (CSPP1) | ||
| ENST00000679322.1:n.1340A>G (CSPP1) | ||
| ENST00000262210.9:c.3281A>G (CSPP1) | ENSP00000262210.5:p.Glu1094Gly | |
| ENST00000518789.5:c.560+9671T>C (ARFGEF1) | ||
| ENST00000519668.1:c.2246A>G (CSPP1) | ENSP00000430092.1:p.Glu749Gly | |
| ENST00000520381.5:c.3820+9671T>C (ARFGEF1) | ||
| ENST00000521168.5:n.1286A>G (CSPP1) | ||
| ENST00000521324.1:n.577A>G (CSPP1) | ||
| NM_001291339.1:c.2246A>G (CSPP1) | NP_001278268.1:p.Glu749Gly | |
| NM_024790.6:c.3281A>G (CSPP1) | NP_079066.5:p.Glu1094Gly | |
| XM_005251136.2:c.5385+9671T>C (ARFGEF1) | XP_005251193.1:n.5385+9671T>C | |
| XM_005251305.3:c.3524A>G (CSPP1) | XP_005251362.2:p.Glu1175Gly | |
| XM_006716474.2:c.3371A>G (CSPP1) | XP_006716537.2:p.Glu1124Gly | |
| XM_006716477.2:c.2993A>G (CSPP1) | XP_006716540.2:p.Glu998Gly | |
| XM_011517598.1:c.3566A>G (CSPP1) | XP_011515900.1:p.Glu1189Gly | |
| XM_011517599.1:c.3542A>G (CSPP1) | XP_011515901.1:p.Glu1181Gly | |
| XM_011517600.1:c.3500A>G (CSPP1) | XP_011515902.1:p.Glu1167Gly | |
| XM_011517601.1:c.3461A>G (CSPP1) | XP_011515903.1:p.Glu1154Gly | |
| XM_011517602.1:c.3419A>G (CSPP1) | XP_011515904.1:p.Glu1140Gly | |
| XM_011517603.1:c.3320A>G (CSPP1) | XP_011515905.1:p.Glu1107Gly | |
| XM_011517604.1:c.3320A>G (CSPP1) | XP_011515906.1:p.Glu1107Gly | |
| XM_011517605.1:c.3320A>G (CSPP1) | XP_011515907.1:p.Glu1107Gly | |
| XM_011517606.1:c.3296A>G (CSPP1) | XP_011515908.1:p.Glu1099Gly | |
| XM_011517607.1:c.3296A>G (CSPP1) | XP_011515909.1:p.Glu1099Gly | |
| XM_011517608.1:c.3215A>G (CSPP1) | XP_011515910.1:p.Glu1072Gly | |
| XM_011517609.1:c.2441A>G (CSPP1) | XP_011515911.1:p.Glu814Gly | |
| XM_011517610.1:c.1961A>G (CSPP1) | XP_011515912.1:p.Glu654Gly | |
| XM_011517611.1:c.1601A>G (CSPP1) | XP_011515913.1:p.Glu534Gly | |
| NM_001363131.1:c.3215A>G (CSPP1) | NP_001350060.1:p.Glu1072Gly | |
| NM_001363132.1:c.3101A>G (CSPP1) | NP_001350061.1:p.Glu1034Gly | |
| NM_001363133.1:c.3020A>G (CSPP1) | NP_001350062.1:p.Glu1007Gly | |
| NM_001364869.1:c.3362A>G (CSPP1) | NP_001351798.1:p.Glu1121Gly | |
| NM_001364870.1:c.3182A>G (CSPP1) | NP_001351799.1:p.Glu1061Gly | |
| XM_005251136.4:c.5385+9671T>C (ARFGEF1) | XP_005251193.1:n.5385+9671T>C | |
| XM_005251305.4:c.3524A>G (CSPP1) | XP_005251362.2:p.Glu1175Gly | |
| XM_006716474.3:c.3371A>G (CSPP1) | XP_006716537.2:p.Glu1124Gly | |
| XM_006716477.3:c.2993A>G (CSPP1) | XP_006716540.2:p.Glu998Gly | |
| XM_011517598.2:c.3566A>G (CSPP1) | XP_011515900.1:p.Glu1189Gly | |
| XM_011517599.2:c.3542A>G (CSPP1) | XP_011515901.1:p.Glu1181Gly | |
| XM_011517600.2:c.3500A>G (CSPP1) | XP_011515902.1:p.Glu1167Gly | |
| XM_011517601.2:c.3461A>G (CSPP1) | XP_011515903.1:p.Glu1154Gly | |
| XM_011517602.2:c.3419A>G (CSPP1) | XP_011515904.1:p.Glu1140Gly | |
| XM_011517603.2:c.3320A>G (CSPP1) | XP_011515905.1:p.Glu1107Gly | |
| XM_011517607.2:c.3296A>G (CSPP1) | XP_011515909.1:p.Glu1099Gly | |
| XM_011517609.2:c.2441A>G (CSPP1) | XP_011515911.1:p.Glu814Gly | |
| XM_011517611.3:c.1601A>G (CSPP1) | XP_011515913.1:p.Glu534Gly | |
| XM_017013847.2:c.3425A>G (CSPP1) | XP_016869336.1:p.Glu1142Gly | |
| XM_017013848.2:c.3401A>G (CSPP1) | XP_016869337.1:p.Glu1134Gly | |
| XM_017013849.2:c.3362A>G (CSPP1) | XP_016869338.1:p.Glu1121Gly | |
| XM_017013850.2:c.3320A>G (CSPP1) | XP_016869339.1:p.Glu1107Gly | |
| XM_017013851.2:c.3173A>G (CSPP1) | XP_016869340.1:p.Glu1058Gly | |
| XM_017013852.2:c.3167A>G (CSPP1) | XP_016869341.1:p.Glu1056Gly | |
| XM_017013854.2:c.2969A>G (CSPP1) | XP_016869343.1:p.Glu990Gly | |
| XM_017013855.2:c.2735A>G (CSPP1) | XP_016869344.1:p.Glu912Gly | |
| XM_017013856.2:c.2642A>G (CSPP1) | XP_016869345.1:p.Glu881Gly | |
| XM_017013858.2:c.1808A>G (CSPP1) | XP_016869347.1:p.Glu603Gly | |
| XM_024447278.1:c.3296A>G (CSPP1) | XP_024303046.1:p.Glu1099Gly | |
| XM_024447279.1:c.3215A>G (CSPP1) | XP_024303047.1:p.Glu1072Gly | |
| XM_024447281.1:c.3020A>G (CSPP1) | XP_024303049.1:p.Glu1007Gly | |
| XM_024447282.1:c.2723A>G (CSPP1) | XP_024303050.1:p.Glu908Gly | |
| XM_024447283.1:c.2399A>G (CSPP1) | XP_024303051.1:p.Glu800Gly | |
| XM_024447284.1:c.1961A>G (CSPP1) | XP_024303052.1:p.Glu654Gly | |
| NM_001363131.2:c.3215A>G (CSPP1) | NP_001350060.1:p.Glu1072Gly | |
| NM_001363132.2:c.3101A>G (CSPP1) | NP_001350061.1:p.Glu1034Gly | |
| NM_001363133.2:c.3020A>G (CSPP1) | NP_001350062.1:p.Glu1007Gly | |
| NM_001291339.2:c.2246A>G (CSPP1) | NP_001278268.1:p.Glu749Gly | |
| NM_001382391.1:c.3296A>G (CSPP1) MANE Select | NP_001369320.1:p.Glu1099Gly |