Linked Data
ClinVar Variation Id:
432417
dbSNP Id:
rs199738369
ExAC:
8:68102909 C / T
gnomAD v2:
8-68102909-C-T
gnomAD v3:
8-67190674-C-T
gnomAD v4:
8-67190674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67190674C>T , CM000670.2:g.67190674C>T | GRCh38 |
| NC_000008.10:g.68102909C>T , CM000670.1:g.68102909C>T | GRCh37 |
| NC_000008.9:g.68265463C>T | NCBI36 |
| NG_034100.1:g.131307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.3311C>T (CSPP1) | ENSP00000262210.6:p.Ala1104Val | |
| ENST00000521324.3:c.1313C>T (CSPP1) | ||
| ENST00000674993.1:c.3335C>T (CSPP1) | ENSP00000502454.1:p.Ala1112Val | |
| ENST00000675306.2:c.2969C>T (CSPP1) | ENSP00000502421.1:p.Ala990Val | |
| ENST00000675869.1:c.3050C>T (CSPP1) | ENSP00000502747.1:p.Ala1017Val | |
| ENST00000675955.1:c.3164C>T (CSPP1) | ENSP00000501676.1:p.Ala1055Val | |
| ENST00000675990.1:n.4574C>T (CSPP1) | ||
| ENST00000676113.1:c.3203C>T (CSPP1) | ENSP00000501645.1:p.Ala1068Val | |
| ENST00000676317.1:c.3230C>T (CSPP1) | ENSP00000502047.1:p.Ala1077Val | |
| ENST00000676471.1:c.2978C>T (CSPP1) | ENSP00000503711.1:p.Ala993Val | |
| ENST00000676573.1:c.2546C>T (CSPP1) | ENSP00000504532.1:p.Ala849Val | |
| ENST00000676605.1:c.3353C>T (CSPP1) | ENSP00000503605.1:p.Ala1118Val | |
| ENST00000676804.1:c.1753C>T (CSPP1) | ||
| ENST00000676847.1:c.3224C>T (CSPP1) | ENSP00000503336.1:p.Ala1075Val | |
| ENST00000676858.1:c.*1206C>T (CSPP1) | ENSP00000502925.1:n.*1206C>T | |
| ENST00000676882.1:c.3131C>T (CSPP1) | ENSP00000504342.1:p.Ala1044Val | |
| ENST00000676968.1:c.1292C>T (CSPP1) | ||
| ENST00000676980.1:n.386C>T (CSPP1) | ||
| ENST00000677009.1:c.3142-4708C>T (CSPP1) | ENSP00000503297.1:n.3142-4708C>T | |
| ENST00000677052.1:n.2743C>T (CSPP1) | ||
| ENST00000677131.1:c.1117C>T (CSPP1) | ||
| ENST00000677256.1:c.*2964C>T (CSPP1) | ENSP00000504102.1:n.*2964C>T | |
| ENST00000677430.1:c.*837C>T (CSPP1) | ENSP00000504177.1:n.*837C>T | |
| ENST00000677473.1:c.*1261C>T (CSPP1) | ENSP00000503534.1:n.*1261C>T | |
| ENST00000677538.1:n.627C>T (CSPP1) | ||
| ENST00000677592.1:c.3212C>T (CSPP1) | ENSP00000504516.1:p.Ala1071Val | |
| ENST00000677619.1:c.2591C>T (CSPP1) | ENSP00000504522.1:p.Ala864Val | |
| ENST00000677697.1:n.1208C>T (CSPP1) | ||
| ENST00000677845.1:c.*1616C>T (CSPP1) | ENSP00000503524.1:n.*1616C>T | |
| ENST00000677855.1:c.2553C>T (CSPP1) | ENSP00000504757.1:n.2553C>T | |
| ENST00000677964.1:c.1242C>T (CSPP1) | ||
| ENST00000678017.1:c.2096C>T (CSPP1) | ENSP00000504394.1:p.Ala699Val | |
| ENST00000678318.1:c.2780C>T (CSPP1) | ENSP00000503690.1:p.Ala927Val | |
| ENST00000678542.1:c.3353C>T (CSPP1) | ENSP00000503878.1:p.Ala1118Val | |
| ENST00000678616.1:c.3245C>T (CSPP1) MANE Select | ENSP00000504733.1:p.Ala1082Val | |
| ENST00000678635.1:n.1740C>T (CSPP1) | ||
| ENST00000678645.1:c.3122C>T (CSPP1) | ENSP00000504031.1:p.Ala1041Val | |
| ENST00000678723.1:c.1117C>T (CSPP1) | ||
| ENST00000678747.1:c.2672C>T (CSPP1) | ENSP00000503390.1:p.Ala891Val | |
| ENST00000678834.1:n.750C>T (CSPP1) | ||
| ENST00000678895.1:c.1117C>T (CSPP1) | ||
| ENST00000679060.1:n.370C>T (CSPP1) | ||
| ENST00000679112.1:c.*3144C>T (CSPP1) | ENSP00000503739.1:n.*3144C>T | |
| ENST00000679226.1:c.2858C>T (CSPP1) | ENSP00000503601.1:p.Ala953Val | |
| ENST00000679274.1:n.2169C>T (CSPP1) | ||
| ENST00000679295.1:n.2216C>T (CSPP1) | ||
| ENST00000679322.1:n.1289C>T (CSPP1) | ||
| ENST00000262210.9:c.3230C>T (CSPP1) | ENSP00000262210.5:p.Ala1077Val | |
| ENST00000518789.5:c.560+9722G>A (ARFGEF1) | ||
| ENST00000519668.1:c.2195C>T (CSPP1) | ENSP00000430092.1:p.Ala732Val | |
| ENST00000520381.5:c.3820+9722G>A (ARFGEF1) | ||
| ENST00000521168.5:n.1235C>T (CSPP1) | ||
| ENST00000521324.1:n.526C>T (CSPP1) | ||
| NM_001291339.1:c.2195C>T (CSPP1) | NP_001278268.1:p.Ala732Val | |
| NM_024790.6:c.3230C>T (CSPP1) | NP_079066.5:p.Ala1077Val | |
| XM_005251136.2:c.5385+9722G>A (ARFGEF1) | XP_005251193.1:n.5385+9722G>A | |
| XM_005251305.3:c.3473C>T (CSPP1) | XP_005251362.2:p.Ala1158Val | |
| XM_006716474.2:c.3320C>T (CSPP1) | XP_006716537.2:p.Ala1107Val | |
| XM_006716477.2:c.2942C>T (CSPP1) | XP_006716540.2:p.Ala981Val | |
| XM_011517598.1:c.3515C>T (CSPP1) | XP_011515900.1:p.Ala1172Val | |
| XM_011517599.1:c.3491C>T (CSPP1) | XP_011515901.1:p.Ala1164Val | |
| XM_011517600.1:c.3449C>T (CSPP1) | XP_011515902.1:p.Ala1150Val | |
| XM_011517601.1:c.3410C>T (CSPP1) | XP_011515903.1:p.Ala1137Val | |
| XM_011517602.1:c.3368C>T (CSPP1) | XP_011515904.1:p.Ala1123Val | |
| XM_011517603.1:c.3269C>T (CSPP1) | XP_011515905.1:p.Ala1090Val | |
| XM_011517604.1:c.3269C>T (CSPP1) | XP_011515906.1:p.Ala1090Val | |
| XM_011517605.1:c.3269C>T (CSPP1) | XP_011515907.1:p.Ala1090Val | |
| XM_011517606.1:c.3245C>T (CSPP1) | XP_011515908.1:p.Ala1082Val | |
| XM_011517607.1:c.3245C>T (CSPP1) | XP_011515909.1:p.Ala1082Val | |
| XM_011517608.1:c.3164C>T (CSPP1) | XP_011515910.1:p.Ala1055Val | |
| XM_011517609.1:c.2390C>T (CSPP1) | XP_011515911.1:p.Ala797Val | |
| XM_011517610.1:c.1910C>T (CSPP1) | XP_011515912.1:p.Ala637Val | |
| XM_011517611.1:c.1550C>T (CSPP1) | XP_011515913.1:p.Ala517Val | |
| NM_001363131.1:c.3164C>T (CSPP1) | NP_001350060.1:p.Ala1055Val | |
| NM_001363132.1:c.3050C>T (CSPP1) | NP_001350061.1:p.Ala1017Val | |
| NM_001363133.1:c.2969C>T (CSPP1) | NP_001350062.1:p.Ala990Val | |
| NM_001364869.1:c.3311C>T (CSPP1) | NP_001351798.1:p.Ala1104Val | |
| NM_001364870.1:c.3131C>T (CSPP1) | NP_001351799.1:p.Ala1044Val | |
| XM_005251136.4:c.5385+9722G>A (ARFGEF1) | XP_005251193.1:n.5385+9722G>A | |
| XM_005251305.4:c.3473C>T (CSPP1) | XP_005251362.2:p.Ala1158Val | |
| XM_006716474.3:c.3320C>T (CSPP1) | XP_006716537.2:p.Ala1107Val | |
| XM_006716477.3:c.2942C>T (CSPP1) | XP_006716540.2:p.Ala981Val | |
| XM_011517598.2:c.3515C>T (CSPP1) | XP_011515900.1:p.Ala1172Val | |
| XM_011517599.2:c.3491C>T (CSPP1) | XP_011515901.1:p.Ala1164Val | |
| XM_011517600.2:c.3449C>T (CSPP1) | XP_011515902.1:p.Ala1150Val | |
| XM_011517601.2:c.3410C>T (CSPP1) | XP_011515903.1:p.Ala1137Val | |
| XM_011517602.2:c.3368C>T (CSPP1) | XP_011515904.1:p.Ala1123Val | |
| XM_011517603.2:c.3269C>T (CSPP1) | XP_011515905.1:p.Ala1090Val | |
| XM_011517607.2:c.3245C>T (CSPP1) | XP_011515909.1:p.Ala1082Val | |
| XM_011517609.2:c.2390C>T (CSPP1) | XP_011515911.1:p.Ala797Val | |
| XM_011517611.3:c.1550C>T (CSPP1) | XP_011515913.1:p.Ala517Val | |
| XM_017013847.2:c.3374C>T (CSPP1) | XP_016869336.1:p.Ala1125Val | |
| XM_017013848.2:c.3350C>T (CSPP1) | XP_016869337.1:p.Ala1117Val | |
| XM_017013849.2:c.3311C>T (CSPP1) | XP_016869338.1:p.Ala1104Val | |
| XM_017013850.2:c.3269C>T (CSPP1) | XP_016869339.1:p.Ala1090Val | |
| XM_017013851.2:c.3122C>T (CSPP1) | XP_016869340.1:p.Ala1041Val | |
| XM_017013852.2:c.3116C>T (CSPP1) | XP_016869341.1:p.Ala1039Val | |
| XM_017013854.2:c.2918C>T (CSPP1) | XP_016869343.1:p.Ala973Val | |
| XM_017013855.2:c.2684C>T (CSPP1) | XP_016869344.1:p.Ala895Val | |
| XM_017013856.2:c.2591C>T (CSPP1) | XP_016869345.1:p.Ala864Val | |
| XM_017013858.2:c.1757C>T (CSPP1) | XP_016869347.1:p.Ala586Val | |
| XM_024447278.1:c.3245C>T (CSPP1) | XP_024303046.1:p.Ala1082Val | |
| XM_024447279.1:c.3164C>T (CSPP1) | XP_024303047.1:p.Ala1055Val | |
| XM_024447281.1:c.2969C>T (CSPP1) | XP_024303049.1:p.Ala990Val | |
| XM_024447282.1:c.2672C>T (CSPP1) | XP_024303050.1:p.Ala891Val | |
| XM_024447283.1:c.2348C>T (CSPP1) | XP_024303051.1:p.Ala783Val | |
| XM_024447284.1:c.1910C>T (CSPP1) | XP_024303052.1:p.Ala637Val | |
| NM_001363131.2:c.3164C>T (CSPP1) | NP_001350060.1:p.Ala1055Val | |
| NM_001363132.2:c.3050C>T (CSPP1) | NP_001350061.1:p.Ala1017Val | |
| NM_001363133.2:c.2969C>T (CSPP1) | NP_001350062.1:p.Ala990Val | |
| NM_001291339.2:c.2195C>T (CSPP1) | NP_001278268.1:p.Ala732Val | |
| NM_001382391.1:c.3245C>T (CSPP1) MANE Select | NP_001369320.1:p.Ala1082Val |