Linked Data
ClinVar Variation Id:
379767
dbSNP Id:
rs76567936
ExAC:
8:68089943 A / G
gnomAD v2:
8-68089943-A-G
gnomAD v3:
8-67177708-A-G
gnomAD v4:
8-67177708-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67177708A>G , CM000670.2:g.67177708A>G | GRCh38 |
| NC_000008.10:g.68089943A>G , CM000670.1:g.68089943A>G | GRCh37 |
| NC_000008.9:g.68252497A>G | NCBI36 |
| NG_034100.1:g.118341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.3204A>G (CSPP1) | ENSP00000262210.6:p.Lys1068= | |
| ENST00000521324.3:c.1206A>G (CSPP1) | ||
| ENST00000674993.1:c.3228A>G (CSPP1) | ENSP00000502454.1:p.Lys1076= | |
| ENST00000675306.2:c.2862A>G (CSPP1) | ENSP00000502421.1:p.Lys954= | |
| ENST00000675869.1:c.2943A>G (CSPP1) | ENSP00000502747.1:p.Lys981= | |
| ENST00000675955.1:c.3057A>G (CSPP1) | ENSP00000501676.1:p.Lys1019= | |
| ENST00000675990.1:n.4467A>G (CSPP1) | ||
| ENST00000676113.1:c.3096A>G (CSPP1) | ENSP00000501645.1:p.Lys1032= | |
| ENST00000676317.1:c.3123A>G (CSPP1) | ENSP00000502047.1:p.Lys1041= | |
| ENST00000676471.1:c.2871A>G (CSPP1) | ENSP00000503711.1:p.Lys957= | |
| ENST00000676573.1:c.2439A>G (CSPP1) | ENSP00000504532.1:p.Lys813= | |
| ENST00000676605.1:c.3246A>G (CSPP1) | ENSP00000503605.1:p.Lys1082= | |
| ENST00000676804.1:c.1646A>G (CSPP1) | ||
| ENST00000676847.1:c.3117A>G (CSPP1) | ENSP00000503336.1:p.Lys1039= | |
| ENST00000676858.1:c.*1099A>G (CSPP1) | ENSP00000502925.1:n.*1099A>G | |
| ENST00000676882.1:c.3024A>G (CSPP1) | ENSP00000504342.1:p.Lys1008= | |
| ENST00000676968.1:c.1010A>G (CSPP1) | ||
| ENST00000676980.1:n.279A>G (CSPP1) | ||
| ENST00000677009.1:c.3123A>G (CSPP1) | ENSP00000503297.1:p.Lys1041= | |
| ENST00000677052.1:n.2636A>G (CSPP1) | ||
| ENST00000677131.1:c.1010A>G (CSPP1) | ||
| ENST00000677256.1:c.*2857A>G (CSPP1) | ENSP00000504102.1:n.*2857A>G | |
| ENST00000677430.1:c.*730A>G (CSPP1) | ENSP00000504177.1:n.*730A>G | |
| ENST00000677473.1:c.*1154A>G (CSPP1) | ENSP00000503534.1:n.*1154A>G | |
| ENST00000677538.1:n.520A>G (CSPP1) | ||
| ENST00000677592.1:c.3105A>G (CSPP1) | ENSP00000504516.1:p.Lys1035= | |
| ENST00000677619.1:c.2484A>G (CSPP1) | ENSP00000504522.1:p.Lys828= | |
| ENST00000677697.1:n.1101A>G (CSPP1) | ||
| ENST00000677845.1:c.*1509A>G (CSPP1) | ENSP00000503524.1:n.*1509A>G | |
| ENST00000677855.1:c.2446A>G (CSPP1) | ENSP00000504757.1:n.2446A>G | |
| ENST00000677964.1:c.1135A>G (CSPP1) | ||
| ENST00000678017.1:c.1989A>G (CSPP1) | ENSP00000504394.1:p.Lys663= | |
| ENST00000678318.1:c.2673A>G (CSPP1) | ENSP00000503690.1:p.Lys891= | |
| ENST00000678542.1:c.3246A>G (CSPP1) | ENSP00000503878.1:p.Lys1082= | |
| ENST00000678616.1:c.3138A>G (CSPP1) MANE Select | ENSP00000504733.1:p.Lys1046= | |
| ENST00000678635.1:n.1633A>G (CSPP1) | ||
| ENST00000678645.1:c.3015A>G (CSPP1) | ENSP00000504031.1:p.Lys1005= | |
| ENST00000678723.1:c.1010A>G (CSPP1) | ||
| ENST00000678747.1:c.2565A>G (CSPP1) | ENSP00000503390.1:p.Lys855= | |
| ENST00000678834.1:n.643A>G (CSPP1) | ||
| ENST00000678895.1:c.1010A>G (CSPP1) | ||
| ENST00000679060.1:n.263A>G (CSPP1) | ||
| ENST00000679112.1:c.*3037A>G (CSPP1) | ENSP00000503739.1:n.*3037A>G | |
| ENST00000679226.1:c.2833+2272A>G (CSPP1) | ENSP00000503601.1:n.2833+2272A>G | |
| ENST00000679274.1:n.2062A>G (CSPP1) | ||
| ENST00000679295.1:n.2109A>G (CSPP1) | ||
| ENST00000262210.9:c.3123A>G (CSPP1) | ENSP00000262210.5:p.Lys1041= | |
| ENST00000518789.5:c.561-2136T>C (ARFGEF1) | ||
| ENST00000519668.1:c.2088A>G (CSPP1) | ENSP00000430092.1:p.Lys696= | |
| ENST00000520381.5:c.3821-2136T>C (ARFGEF1) | ||
| ENST00000521168.5:n.1128A>G (CSPP1) | ||
| ENST00000521324.1:n.419A>G (CSPP1) | ||
| NM_001291339.1:c.2088A>G (CSPP1) | NP_001278268.1:p.Lys696= | |
| NM_024790.6:c.3123A>G (CSPP1) | NP_079066.5:p.Lys1041= | |
| XM_005251136.2:c.5386-2136T>C (ARFGEF1) | XP_005251193.1:n.5386-2136T>C | |
| XM_005251305.3:c.3366A>G (CSPP1) | XP_005251362.2:p.Lys1122= | |
| XM_006716474.2:c.3213A>G (CSPP1) | XP_006716537.2:p.Lys1071= | |
| XM_006716477.2:c.2835A>G (CSPP1) | XP_006716540.2:p.Lys945= | |
| XM_011517598.1:c.3408A>G (CSPP1) | XP_011515900.1:p.Lys1136= | |
| XM_011517599.1:c.3384A>G (CSPP1) | XP_011515901.1:p.Lys1128= | |
| XM_011517600.1:c.3342A>G (CSPP1) | XP_011515902.1:p.Lys1114= | |
| XM_011517601.1:c.3303A>G (CSPP1) | XP_011515903.1:p.Lys1101= | |
| XM_011517602.1:c.3261A>G (CSPP1) | XP_011515904.1:p.Lys1087= | |
| XM_011517603.1:c.3162A>G (CSPP1) | XP_011515905.1:p.Lys1054= | |
| XM_011517604.1:c.3162A>G (CSPP1) | XP_011515906.1:p.Lys1054= | |
| XM_011517605.1:c.3162A>G (CSPP1) | XP_011515907.1:p.Lys1054= | |
| XM_011517606.1:c.3138A>G (CSPP1) | XP_011515908.1:p.Lys1046= | |
| XM_011517607.1:c.3138A>G (CSPP1) | XP_011515909.1:p.Lys1046= | |
| XM_011517608.1:c.3057A>G (CSPP1) | XP_011515910.1:p.Lys1019= | |
| XM_011517609.1:c.2283A>G (CSPP1) | XP_011515911.1:p.Lys761= | |
| XM_011517610.1:c.1803A>G (CSPP1) | XP_011515912.1:p.Lys601= | |
| XM_011517611.1:c.1443A>G (CSPP1) | XP_011515913.1:p.Lys481= | |
| NM_001363131.1:c.3057A>G (CSPP1) | NP_001350060.1:p.Lys1019= | |
| NM_001363132.1:c.2943A>G (CSPP1) | NP_001350061.1:p.Lys981= | |
| NM_001363133.1:c.2862A>G (CSPP1) | NP_001350062.1:p.Lys954= | |
| NM_001364869.1:c.3204A>G (CSPP1) | NP_001351798.1:p.Lys1068= | |
| NM_001364870.1:c.3024A>G (CSPP1) | NP_001351799.1:p.Lys1008= | |
| XM_005251136.4:c.5386-2136T>C (ARFGEF1) | XP_005251193.1:n.5386-2136T>C | |
| XM_005251305.4:c.3366A>G (CSPP1) | XP_005251362.2:p.Lys1122= | |
| XM_006716474.3:c.3213A>G (CSPP1) | XP_006716537.2:p.Lys1071= | |
| XM_006716477.3:c.2835A>G (CSPP1) | XP_006716540.2:p.Lys945= | |
| XM_011517598.2:c.3408A>G (CSPP1) | XP_011515900.1:p.Lys1136= | |
| XM_011517599.2:c.3384A>G (CSPP1) | XP_011515901.1:p.Lys1128= | |
| XM_011517600.2:c.3342A>G (CSPP1) | XP_011515902.1:p.Lys1114= | |
| XM_011517601.2:c.3303A>G (CSPP1) | XP_011515903.1:p.Lys1101= | |
| XM_011517602.2:c.3261A>G (CSPP1) | XP_011515904.1:p.Lys1087= | |
| XM_011517603.2:c.3162A>G (CSPP1) | XP_011515905.1:p.Lys1054= | |
| XM_011517607.2:c.3138A>G (CSPP1) | XP_011515909.1:p.Lys1046= | |
| XM_011517609.2:c.2283A>G (CSPP1) | XP_011515911.1:p.Lys761= | |
| XM_011517611.3:c.1443A>G (CSPP1) | XP_011515913.1:p.Lys481= | |
| XM_017013847.2:c.3267A>G (CSPP1) | XP_016869336.1:p.Lys1089= | |
| XM_017013848.2:c.3243A>G (CSPP1) | XP_016869337.1:p.Lys1081= | |
| XM_017013849.2:c.3204A>G (CSPP1) | XP_016869338.1:p.Lys1068= | |
| XM_017013850.2:c.3162A>G (CSPP1) | XP_016869339.1:p.Lys1054= | |
| XM_017013851.2:c.3015A>G (CSPP1) | XP_016869340.1:p.Lys1005= | |
| XM_017013852.2:c.3009A>G (CSPP1) | XP_016869341.1:p.Lys1003= | |
| XM_017013854.2:c.2811A>G (CSPP1) | XP_016869343.1:p.Lys937= | |
| XM_017013855.2:c.2577A>G (CSPP1) | XP_016869344.1:p.Lys859= | |
| XM_017013856.2:c.2484A>G (CSPP1) | XP_016869345.1:p.Lys828= | |
| XM_017013858.2:c.1650A>G (CSPP1) | XP_016869347.1:p.Lys550= | |
| XM_024447278.1:c.3138A>G (CSPP1) | XP_024303046.1:p.Lys1046= | |
| XM_024447279.1:c.3057A>G (CSPP1) | XP_024303047.1:p.Lys1019= | |
| XM_024447281.1:c.2862A>G (CSPP1) | XP_024303049.1:p.Lys954= | |
| XM_024447282.1:c.2565A>G (CSPP1) | XP_024303050.1:p.Lys855= | |
| XM_024447283.1:c.2241A>G (CSPP1) | XP_024303051.1:p.Lys747= | |
| XM_024447284.1:c.1803A>G (CSPP1) | XP_024303052.1:p.Lys601= | |
| NM_001363131.2:c.3057A>G (CSPP1) | NP_001350060.1:p.Lys1019= | |
| NM_001363132.2:c.2943A>G (CSPP1) | NP_001350061.1:p.Lys981= | |
| NM_001363133.2:c.2862A>G (CSPP1) | NP_001350062.1:p.Lys954= | |
| NM_001291339.2:c.2088A>G (CSPP1) | NP_001278268.1:p.Lys696= | |
| NM_001382391.1:c.3138A>G (CSPP1) MANE Select | NP_001369320.1:p.Lys1046= |