Linked Data
ClinVar Variation Id:
434844
dbSNP Id:
rs10112748
ExAC:
8:68092106 T / C
gnomAD v2:
8-68092106-T-C
gnomAD v3:
8-67179871-T-C
gnomAD v4:
8-67179871-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67179871T>C , CM000670.2:g.67179871T>C | GRCh38 |
| NC_000008.10:g.68092106T>C , CM000670.1:g.68092106T>C | GRCh37 |
| NC_000008.9:g.68254660T>C | NCBI36 |
| NG_034100.1:g.120504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.3231T>C (CSPP1) | ENSP00000262210.6:p.Asp1077= | |
| ENST00000521324.3:c.1233T>C (CSPP1) | ||
| ENST00000674993.1:c.3255T>C (CSPP1) | ENSP00000502454.1:p.Asp1085= | |
| ENST00000675306.2:c.2889T>C (CSPP1) | ENSP00000502421.1:p.Asp963= | |
| ENST00000675869.1:c.2970T>C (CSPP1) | ENSP00000502747.1:p.Asp990= | |
| ENST00000675955.1:c.3084T>C (CSPP1) | ENSP00000501676.1:p.Asp1028= | |
| ENST00000675990.1:n.4494T>C (CSPP1) | ||
| ENST00000676113.1:c.3123T>C (CSPP1) | ENSP00000501645.1:p.Asp1041= | |
| ENST00000676317.1:c.3150T>C (CSPP1) | ENSP00000502047.1:p.Asp1050= | |
| ENST00000676471.1:c.2898T>C (CSPP1) | ENSP00000503711.1:p.Asp966= | |
| ENST00000676573.1:c.2466T>C (CSPP1) | ENSP00000504532.1:p.Asp822= | |
| ENST00000676605.1:c.3273T>C (CSPP1) | ENSP00000503605.1:p.Asp1091= | |
| ENST00000676804.1:c.1673T>C (CSPP1) | ||
| ENST00000676847.1:c.3144T>C (CSPP1) | ENSP00000503336.1:p.Asp1048= | |
| ENST00000676858.1:c.*1126T>C (CSPP1) | ENSP00000502925.1:n.*1126T>C | |
| ENST00000676882.1:c.3051T>C (CSPP1) | ENSP00000504342.1:p.Asp1017= | |
| ENST00000676968.1:c.1037T>C (CSPP1) | ||
| ENST00000676980.1:n.306T>C (CSPP1) | ||
| ENST00000677009.1:c.3141+2145T>C (CSPP1) | ENSP00000503297.1:n.3141+2145T>C | |
| ENST00000677052.1:n.2663T>C (CSPP1) | ||
| ENST00000677131.1:c.1037T>C (CSPP1) | ||
| ENST00000677256.1:c.*2884T>C (CSPP1) | ENSP00000504102.1:n.*2884T>C | |
| ENST00000677430.1:c.*757T>C (CSPP1) | ENSP00000504177.1:n.*757T>C | |
| ENST00000677473.1:c.*1181T>C (CSPP1) | ENSP00000503534.1:n.*1181T>C | |
| ENST00000677538.1:n.547T>C (CSPP1) | ||
| ENST00000677592.1:c.3132T>C (CSPP1) | ENSP00000504516.1:p.Asp1044= | |
| ENST00000677619.1:c.2511T>C (CSPP1) | ENSP00000504522.1:p.Asp837= | |
| ENST00000677697.1:n.1128T>C (CSPP1) | ||
| ENST00000677845.1:c.*1536T>C (CSPP1) | ENSP00000503524.1:n.*1536T>C | |
| ENST00000677855.1:c.2473T>C (CSPP1) | ENSP00000504757.1:n.2473T>C | |
| ENST00000677964.1:c.1162T>C (CSPP1) | ||
| ENST00000678017.1:c.2016T>C (CSPP1) | ENSP00000504394.1:p.Asp672= | |
| ENST00000678318.1:c.2700T>C (CSPP1) | ENSP00000503690.1:p.Asp900= | |
| ENST00000678542.1:c.3273T>C (CSPP1) | ENSP00000503878.1:p.Asp1091= | |
| ENST00000678616.1:c.3165T>C (CSPP1) MANE Select | ENSP00000504733.1:p.Asp1055= | |
| ENST00000678635.1:n.1660T>C (CSPP1) | ||
| ENST00000678645.1:c.3042T>C (CSPP1) | ENSP00000504031.1:p.Asp1014= | |
| ENST00000678723.1:c.1037T>C (CSPP1) | ||
| ENST00000678747.1:c.2592T>C (CSPP1) | ENSP00000503390.1:p.Asp864= | |
| ENST00000678834.1:n.670T>C (CSPP1) | ||
| ENST00000678895.1:c.1037T>C (CSPP1) | ||
| ENST00000679060.1:n.290T>C (CSPP1) | ||
| ENST00000679112.1:c.*3064T>C (CSPP1) | ENSP00000503739.1:n.*3064T>C | |
| ENST00000679226.1:c.2833+4435T>C (CSPP1) | ENSP00000503601.1:n.2833+4435T>C | |
| ENST00000679274.1:n.2089T>C (CSPP1) | ||
| ENST00000679295.1:n.2136T>C (CSPP1) | ||
| ENST00000262210.9:c.3150T>C (CSPP1) | ENSP00000262210.5:p.Asp1050= | |
| ENST00000518789.5:c.561-4299A>G (ARFGEF1) | ||
| ENST00000519668.1:c.2115T>C (CSPP1) | ENSP00000430092.1:p.Asp705= | |
| ENST00000520381.5:c.3821-4299A>G (ARFGEF1) | ||
| ENST00000521168.5:n.1155T>C (CSPP1) | ||
| ENST00000521324.1:n.446T>C (CSPP1) | ||
| NM_001291339.1:c.2115T>C (CSPP1) | NP_001278268.1:p.Asp705= | |
| NM_024790.6:c.3150T>C (CSPP1) | NP_079066.5:p.Asp1050= | |
| XM_005251136.2:c.5386-4299A>G (ARFGEF1) | XP_005251193.1:n.5386-4299A>G | |
| XM_005251305.3:c.3393T>C (CSPP1) | XP_005251362.2:p.Asp1131= | |
| XM_006716474.2:c.3240T>C (CSPP1) | XP_006716537.2:p.Asp1080= | |
| XM_006716477.2:c.2862T>C (CSPP1) | XP_006716540.2:p.Asp954= | |
| XM_011517598.1:c.3435T>C (CSPP1) | XP_011515900.1:p.Asp1145= | |
| XM_011517599.1:c.3411T>C (CSPP1) | XP_011515901.1:p.Asp1137= | |
| XM_011517600.1:c.3369T>C (CSPP1) | XP_011515902.1:p.Asp1123= | |
| XM_011517601.1:c.3330T>C (CSPP1) | XP_011515903.1:p.Asp1110= | |
| XM_011517602.1:c.3288T>C (CSPP1) | XP_011515904.1:p.Asp1096= | |
| XM_011517603.1:c.3189T>C (CSPP1) | XP_011515905.1:p.Asp1063= | |
| XM_011517604.1:c.3189T>C (CSPP1) | XP_011515906.1:p.Asp1063= | |
| XM_011517605.1:c.3189T>C (CSPP1) | XP_011515907.1:p.Asp1063= | |
| XM_011517606.1:c.3165T>C (CSPP1) | XP_011515908.1:p.Asp1055= | |
| XM_011517607.1:c.3165T>C (CSPP1) | XP_011515909.1:p.Asp1055= | |
| XM_011517608.1:c.3084T>C (CSPP1) | XP_011515910.1:p.Asp1028= | |
| XM_011517609.1:c.2310T>C (CSPP1) | XP_011515911.1:p.Asp770= | |
| XM_011517610.1:c.1830T>C (CSPP1) | XP_011515912.1:p.Asp610= | |
| XM_011517611.1:c.1470T>C (CSPP1) | XP_011515913.1:p.Asp490= | |
| NM_001363131.1:c.3084T>C (CSPP1) | NP_001350060.1:p.Asp1028= | |
| NM_001363132.1:c.2970T>C (CSPP1) | NP_001350061.1:p.Asp990= | |
| NM_001363133.1:c.2889T>C (CSPP1) | NP_001350062.1:p.Asp963= | |
| NM_001364869.1:c.3231T>C (CSPP1) | NP_001351798.1:p.Asp1077= | |
| NM_001364870.1:c.3051T>C (CSPP1) | NP_001351799.1:p.Asp1017= | |
| XM_005251136.4:c.5386-4299A>G (ARFGEF1) | XP_005251193.1:n.5386-4299A>G | |
| XM_005251305.4:c.3393T>C (CSPP1) | XP_005251362.2:p.Asp1131= | |
| XM_006716474.3:c.3240T>C (CSPP1) | XP_006716537.2:p.Asp1080= | |
| XM_006716477.3:c.2862T>C (CSPP1) | XP_006716540.2:p.Asp954= | |
| XM_011517598.2:c.3435T>C (CSPP1) | XP_011515900.1:p.Asp1145= | |
| XM_011517599.2:c.3411T>C (CSPP1) | XP_011515901.1:p.Asp1137= | |
| XM_011517600.2:c.3369T>C (CSPP1) | XP_011515902.1:p.Asp1123= | |
| XM_011517601.2:c.3330T>C (CSPP1) | XP_011515903.1:p.Asp1110= | |
| XM_011517602.2:c.3288T>C (CSPP1) | XP_011515904.1:p.Asp1096= | |
| XM_011517603.2:c.3189T>C (CSPP1) | XP_011515905.1:p.Asp1063= | |
| XM_011517607.2:c.3165T>C (CSPP1) | XP_011515909.1:p.Asp1055= | |
| XM_011517609.2:c.2310T>C (CSPP1) | XP_011515911.1:p.Asp770= | |
| XM_011517611.3:c.1470T>C (CSPP1) | XP_011515913.1:p.Asp490= | |
| XM_017013847.2:c.3294T>C (CSPP1) | XP_016869336.1:p.Asp1098= | |
| XM_017013848.2:c.3270T>C (CSPP1) | XP_016869337.1:p.Asp1090= | |
| XM_017013849.2:c.3231T>C (CSPP1) | XP_016869338.1:p.Asp1077= | |
| XM_017013850.2:c.3189T>C (CSPP1) | XP_016869339.1:p.Asp1063= | |
| XM_017013851.2:c.3042T>C (CSPP1) | XP_016869340.1:p.Asp1014= | |
| XM_017013852.2:c.3036T>C (CSPP1) | XP_016869341.1:p.Asp1012= | |
| XM_017013854.2:c.2838T>C (CSPP1) | XP_016869343.1:p.Asp946= | |
| XM_017013855.2:c.2604T>C (CSPP1) | XP_016869344.1:p.Asp868= | |
| XM_017013856.2:c.2511T>C (CSPP1) | XP_016869345.1:p.Asp837= | |
| XM_017013858.2:c.1677T>C (CSPP1) | XP_016869347.1:p.Asp559= | |
| XM_024447278.1:c.3165T>C (CSPP1) | XP_024303046.1:p.Asp1055= | |
| XM_024447279.1:c.3084T>C (CSPP1) | XP_024303047.1:p.Asp1028= | |
| XM_024447281.1:c.2889T>C (CSPP1) | XP_024303049.1:p.Asp963= | |
| XM_024447282.1:c.2592T>C (CSPP1) | XP_024303050.1:p.Asp864= | |
| XM_024447283.1:c.2268T>C (CSPP1) | XP_024303051.1:p.Asp756= | |
| XM_024447284.1:c.1830T>C (CSPP1) | XP_024303052.1:p.Asp610= | |
| NM_001363131.2:c.3084T>C (CSPP1) | NP_001350060.1:p.Asp1028= | |
| NM_001363132.2:c.2970T>C (CSPP1) | NP_001350061.1:p.Asp990= | |
| NM_001363133.2:c.2889T>C (CSPP1) | NP_001350062.1:p.Asp963= | |
| NM_001291339.2:c.2115T>C (CSPP1) | NP_001278268.1:p.Asp705= | |
| NM_001382391.1:c.3165T>C (CSPP1) MANE Select | NP_001369320.1:p.Asp1055= |