Linked Data
ClinVar Variation Id:
446051
dbSNP Id:
rs200158932
ExAC:
8:67988721 A / G
gnomAD v2:
8-67988721-A-G
gnomAD v3:
8-67076486-A-G
gnomAD v4:
8-67076486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67076486A>G , CM000670.2:g.67076486A>G | GRCh38 |
| NC_000008.10:g.67988721A>G , CM000670.1:g.67988721A>G | GRCh37 |
| NC_000008.9:g.68151275A>G | NCBI36 |
| NG_034100.1:g.17119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.212A>G (CSPP1) | ENSP00000262210.6:p.Lys71Arg | |
| ENST00000521919.6:c.104A>G (CSPP1) | ENSP00000429546.2:p.Lys35Arg | |
| ENST00000674993.1:c.212A>G (CSPP1) | ENSP00000502454.1:p.Lys71Arg | |
| ENST00000675306.2:c.104A>G (CSPP1) | ENSP00000502421.1:p.Lys35Arg | |
| ENST00000675820.1:c.104A>G (CSPP1) | ENSP00000501959.1:p.Lys35Arg | |
| ENST00000675869.1:c.104A>G (CSPP1) | ENSP00000502747.1:p.Lys35Arg | |
| ENST00000675955.1:c.104A>G (CSPP1) | ENSP00000501676.1:p.Lys35Arg | |
| ENST00000676113.1:c.104A>G (CSPP1) | ENSP00000501645.1:p.Lys35Arg | |
| ENST00000676317.1:c.212A>G (CSPP1) | ENSP00000502047.1:p.Lys71Arg | |
| ENST00000676471.1:c.212A>G (CSPP1) | ENSP00000503711.1:p.Lys71Arg | |
| ENST00000676567.1:c.104A>G (CSPP1) | ENSP00000503427.1:p.Lys35Arg | |
| ENST00000676573.1:c.212A>G (CSPP1) | ENSP00000504532.1:p.Lys71Arg | |
| ENST00000676605.1:c.335A>G (CSPP1) | ENSP00000503605.1:p.Lys112Arg | |
| ENST00000676847.1:c.208-2A>G (CSPP1) | ENSP00000503336.1:n.208-2A>G | |
| ENST00000676858.1:c.104A>G (CSPP1) | ENSP00000502925.1:p.Lys35Arg | |
| ENST00000676882.1:c.212A>G (CSPP1) | ENSP00000504342.1:p.Lys71Arg | |
| ENST00000677009.1:c.212A>G (CSPP1) | ENSP00000503297.1:p.Lys71Arg | |
| ENST00000677071.1:n.262A>G (CSPP1) | ||
| ENST00000677256.1:c.104A>G (CSPP1) | ENSP00000504102.1:p.Lys35Arg | |
| ENST00000677430.1:c.104A>G (CSPP1) | ENSP00000504177.1:p.Lys35Arg | |
| ENST00000677455.1:n.253A>G (CSPP1) | ||
| ENST00000677473.1:c.212A>G (CSPP1) | ENSP00000503534.1:p.Lys71Arg | |
| ENST00000677592.1:c.212A>G (CSPP1) | ENSP00000504516.1:p.Lys71Arg | |
| ENST00000677619.1:c.104A>G (CSPP1) | ENSP00000504522.1:p.Lys35Arg | |
| ENST00000677845.1:c.104A>G (CSPP1) | ENSP00000503524.1:p.Lys35Arg | |
| ENST00000678017.1:c.-575-9521A>G (CSPP1) | ENSP00000504394.1:n.-575-9521A>G | |
| ENST00000678156.1:n.317A>G (CSPP1) | ||
| ENST00000678204.1:c.207+2135A>G (CSPP1) | ENSP00000504782.1:n.207+2135A>G | |
| ENST00000678318.1:c.212A>G (CSPP1) | ENSP00000503690.1:p.Lys71Arg | |
| ENST00000678362.1:c.104A>G (CSPP1) | ENSP00000504317.1:p.Lys35Arg | |
| ENST00000678542.1:c.212A>G (CSPP1) | ENSP00000503878.1:p.Lys71Arg | |
| ENST00000678553.1:c.212A>G (CSPP1) | ENSP00000503747.1:p.Lys71Arg | |
| ENST00000678616.1:c.104A>G (CSPP1) MANE Select | ENSP00000504733.1:p.Lys35Arg | |
| ENST00000678645.1:c.104A>G (CSPP1) | ENSP00000504031.1:p.Lys35Arg | |
| ENST00000678728.1:c.212A>G (CSPP1) | ENSP00000504830.1:p.Lys71Arg | |
| ENST00000678744.1:c.104A>G (CSPP1) | ENSP00000503495.1:p.Lys35Arg | |
| ENST00000678747.1:c.104A>G (CSPP1) | ENSP00000503390.1:p.Lys35Arg | |
| ENST00000678821.1:n.1417A>G (CSPP1) | ||
| ENST00000678927.1:n.285A>G (CSPP1) | ||
| ENST00000679112.1:c.*21A>G (CSPP1) | ENSP00000503739.1:n.*21A>G | |
| ENST00000679226.1:c.104A>G (CSPP1) | ENSP00000503601.1:p.Lys35Arg | |
| ENST00000262210.9:c.212A>G (CSPP1) | ENSP00000262210.5:p.Lys71Arg | |
| ENST00000518768.1:n.312+4396T>C (COPS5) | ||
| ENST00000519057.5:n.58+7201T>C (COPS5) | ||
| ENST00000519163.6:c.104A>G (CSPP1) | ENSP00000428694.1:p.Lys35Arg | |
| ENST00000519701.5:c.*21A>G (CSPP1) | ENSP00000428793.1:n.*21A>G | |
| ENST00000519963.5:n.262+4396T>C (COPS5) | ||
| ENST00000521919.5:c.104A>G (CSPP1) | ENSP00000429546.1:p.Lys35Arg | |
| NM_024790.6:c.212A>G (CSPP1) | NP_079066.5:p.Lys71Arg | |
| XM_005251305.3:c.350A>G (CSPP1) | XP_005251362.2:p.Lys117Arg | |
| XM_006716474.2:c.350A>G (CSPP1) | XP_006716537.2:p.Lys117Arg | |
| XM_006716477.2:c.350A>G (CSPP1) | XP_006716540.2:p.Lys117Arg | |
| XM_011517598.1:c.350A>G (CSPP1) | XP_011515900.1:p.Lys117Arg | |
| XM_011517599.1:c.350A>G (CSPP1) | XP_011515901.1:p.Lys117Arg | |
| XM_011517600.1:c.350A>G (CSPP1) | XP_011515902.1:p.Lys117Arg | |
| XM_011517601.1:c.350A>G (CSPP1) | XP_011515903.1:p.Lys117Arg | |
| XM_011517602.1:c.350A>G (CSPP1) | XP_011515904.1:p.Lys117Arg | |
| XM_011517603.1:c.104A>G (CSPP1) | XP_011515905.1:p.Lys35Arg | |
| XM_011517604.1:c.104A>G (CSPP1) | XP_011515906.1:p.Lys35Arg | |
| XM_011517605.1:c.104A>G (CSPP1) | XP_011515907.1:p.Lys35Arg | |
| XM_011517606.1:c.104A>G (CSPP1) | XP_011515908.1:p.Lys35Arg | |
| XM_011517607.1:c.104A>G (CSPP1) | XP_011515909.1:p.Lys35Arg | |
| XM_011517608.1:c.104A>G (CSPP1) | XP_011515910.1:p.Lys35Arg | |
| NM_001363131.1:c.104A>G (CSPP1) | NP_001350060.1:p.Lys35Arg | |
| NM_001363132.1:c.104A>G (CSPP1) | NP_001350061.1:p.Lys35Arg | |
| NM_001363133.1:c.104A>G (CSPP1) | NP_001350062.1:p.Lys35Arg | |
| NM_001364869.1:c.212A>G (CSPP1) | NP_001351798.1:p.Lys71Arg | |
| NM_001364870.1:c.212A>G (CSPP1) | NP_001351799.1:p.Lys71Arg | |
| XM_005251305.4:c.350A>G (CSPP1) | XP_005251362.2:p.Lys117Arg | |
| XM_006716474.3:c.350A>G (CSPP1) | XP_006716537.2:p.Lys117Arg | |
| XM_006716477.3:c.350A>G (CSPP1) | XP_006716540.2:p.Lys117Arg | |
| XM_011517598.2:c.350A>G (CSPP1) | XP_011515900.1:p.Lys117Arg | |
| XM_011517599.2:c.350A>G (CSPP1) | XP_011515901.1:p.Lys117Arg | |
| XM_011517600.2:c.350A>G (CSPP1) | XP_011515902.1:p.Lys117Arg | |
| XM_011517601.2:c.350A>G (CSPP1) | XP_011515903.1:p.Lys117Arg | |
| XM_011517602.2:c.350A>G (CSPP1) | XP_011515904.1:p.Lys117Arg | |
| XM_011517603.2:c.104A>G (CSPP1) | XP_011515905.1:p.Lys35Arg | |
| XM_011517607.2:c.104A>G (CSPP1) | XP_011515909.1:p.Lys35Arg | |
| XM_017013847.2:c.350A>G (CSPP1) | XP_016869336.1:p.Lys117Arg | |
| XM_017013848.2:c.350A>G (CSPP1) | XP_016869337.1:p.Lys117Arg | |
| XM_017013849.2:c.350A>G (CSPP1) | XP_016869338.1:p.Lys117Arg | |
| XM_017013850.2:c.350A>G (CSPP1) | XP_016869339.1:p.Lys117Arg | |
| XM_017013851.2:c.104A>G (CSPP1) | XP_016869340.1:p.Lys35Arg | |
| XM_017013852.2:c.350A>G (CSPP1) | XP_016869341.1:p.Lys117Arg | |
| XM_017013854.2:c.350A>G (CSPP1) | XP_016869343.1:p.Lys117Arg | |
| XM_017013855.2:c.350A>G (CSPP1) | XP_016869344.1:p.Lys117Arg | |
| XM_017013856.2:c.104A>G (CSPP1) | XP_016869345.1:p.Lys35Arg | |
| XM_017013858.2:c.-1020A>G (CSPP1) | XP_016869347.1:n.-1020A>G | |
| XM_024447278.1:c.104A>G (CSPP1) | XP_024303046.1:p.Lys35Arg | |
| XM_024447279.1:c.104A>G (CSPP1) | XP_024303047.1:p.Lys35Arg | |
| XM_024447281.1:c.104A>G (CSPP1) | XP_024303049.1:p.Lys35Arg | |
| XM_024447282.1:c.104A>G (CSPP1) | XP_024303050.1:p.Lys35Arg | |
| XM_024447283.1:c.-576+2135A>G (CSPP1) | XP_024303051.1:n.-576+2135A>G | |
| XM_024447284.1:c.-1119A>G (CSPP1) | XP_024303052.1:n.-1119A>G | |
| NM_001363131.2:c.104A>G (CSPP1) | NP_001350060.1:p.Lys35Arg | |
| NM_001363132.2:c.104A>G (CSPP1) | NP_001350061.1:p.Lys35Arg | |
| NM_001363133.2:c.104A>G (CSPP1) | NP_001350062.1:p.Lys35Arg | |
| NM_001382391.1:c.104A>G (CSPP1) MANE Select | NP_001369320.1:p.Lys35Arg |