ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67064406T>A , CM000670.2:g.67064406T>A | GRCh38 |
| NC_000008.10:g.67976641T>A , CM000670.1:g.67976641T>A | GRCh37 |
| NC_000008.9:g.68139195T>A | NCBI36 |
| NG_034100.1:g.5039T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.8T>A (CSPP1) | ENSP00000262210.6:p.Phe3Tyr | |
| ENST00000521919.6:c.-143T>A (CSPP1) | ENSP00000429546.2:n.-143T>A | |
| ENST00000674647.1:n.418T>A (CSPP1) | ||
| ENST00000674993.1:c.8T>A (CSPP1) | ENSP00000502454.1:p.Phe3Tyr | |
| ENST00000675306.2:c.-143T>A (CSPP1) | ENSP00000502421.1:n.-143T>A | |
| ENST00000675820.1:c.-101T>A (CSPP1) | ENSP00000501959.1:n.-101T>A | |
| ENST00000675869.1:c.-143T>A (CSPP1) | ENSP00000502747.1:n.-143T>A | |
| ENST00000675955.1:c.-143T>A (CSPP1) | ENSP00000501676.1:n.-143T>A | |
| ENST00000676113.1:c.-11+1886T>A (CSPP1) | ENSP00000501645.1:n.-11+1886T>A | |
| ENST00000676317.1:c.8T>A (CSPP1) | ENSP00000502047.1:p.Phe3Tyr | |
| ENST00000676471.1:c.8T>A (CSPP1) | ENSP00000503711.1:p.Phe3Tyr | |
| ENST00000676573.1:c.8T>A (CSPP1) | ENSP00000504532.1:p.Phe3Tyr | |
| ENST00000676605.1:c.8T>A (CSPP1) | ENSP00000503605.1:p.Phe3Tyr | |
| ENST00000676847.1:c.8T>A (CSPP1) | ENSP00000503336.1:p.Phe3Tyr | |
| ENST00000676882.1:c.8T>A (CSPP1) | ENSP00000504342.1:p.Phe3Tyr | |
| ENST00000677009.1:c.8T>A (CSPP1) | ENSP00000503297.1:p.Phe3Tyr | |
| ENST00000677071.1:n.16T>A (CSPP1) | ||
| ENST00000677256.1:c.-143T>A (CSPP1) | ENSP00000504102.1:n.-143T>A | |
| ENST00000677430.1:c.-143T>A (CSPP1) | ENSP00000504177.1:n.-143T>A | |
| ENST00000677455.1:n.19T>A (CSPP1) | ||
| ENST00000677473.1:c.8T>A (CSPP1) | ENSP00000503534.1:p.Phe3Tyr | |
| ENST00000677592.1:c.8T>A (CSPP1) | ENSP00000504516.1:p.Phe3Tyr | |
| ENST00000677619.1:c.-143T>A (CSPP1) | ENSP00000504522.1:n.-143T>A | |
| ENST00000678017.1:c.-666T>A (CSPP1) | ENSP00000504394.1:n.-666T>A | |
| ENST00000678156.1:n.71T>A (CSPP1) | ||
| ENST00000678204.1:c.8T>A (CSPP1) | ENSP00000504782.1:p.Phe3Tyr | |
| ENST00000678318.1:c.8T>A (CSPP1) | ENSP00000503690.1:p.Phe3Tyr | |
| ENST00000678362.1:c.-143T>A (CSPP1) | ENSP00000504317.1:n.-143T>A | |
| ENST00000678542.1:c.8T>A (CSPP1) | ENSP00000503878.1:p.Phe3Tyr | |
| ENST00000678553.1:c.8T>A (CSPP1) | ENSP00000503747.1:p.Phe3Tyr | |
| ENST00000678616.1:c.-143T>A (CSPP1) MANE Select | ENSP00000504733.1:n.-143T>A | |
| ENST00000678728.1:c.8T>A (CSPP1) | ENSP00000504830.1:p.Phe3Tyr | |
| ENST00000678927.1:n.39T>A (CSPP1) | ||
| ENST00000679112.1:c.-101T>A (CSPP1) | ENSP00000503739.1:n.-101T>A | |
| ENST00000679226.1:c.-143T>A (CSPP1) | ENSP00000503601.1:n.-143T>A | |
| ENST00000262210.9:c.8T>A (CSPP1) | ENSP00000262210.5:p.Phe3Tyr | |
| ENST00000517736.5:c.-50+25A>T (COPS5) | ENSP00000429774.1:n.-50+25A>T | |
| ENST00000517793.1:n.233A>T (COPS5) | ||
| ENST00000518768.1:n.417-2226A>T (COPS5) | ||
| ENST00000519057.5:n.163-2147A>T (COPS5) | ||
| ENST00000519963.5:n.367-2147A>T (COPS5) | ||
| ENST00000521919.5:c.-11+1886T>A (CSPP1) | ENSP00000429546.1:n.-11+1886T>A | |
| NM_024790.6:c.8T>A (CSPP1) | NP_079066.5:p.Phe3Tyr | |
| XM_005251305.3:c.146T>A (CSPP1) | XP_005251362.2:p.Phe49Tyr | |
| XM_006716474.2:c.146T>A (CSPP1) | XP_006716537.2:p.Phe49Tyr | |
| XM_006716477.2:c.146T>A (CSPP1) | XP_006716540.2:p.Phe49Tyr | |
| XM_011517598.1:c.146T>A (CSPP1) | XP_011515900.1:p.Phe49Tyr | |
| XM_011517599.1:c.146T>A (CSPP1) | XP_011515901.1:p.Phe49Tyr | |
| XM_011517600.1:c.146T>A (CSPP1) | XP_011515902.1:p.Phe49Tyr | |
| XM_011517601.1:c.146T>A (CSPP1) | XP_011515903.1:p.Phe49Tyr | |
| XM_011517602.1:c.146T>A (CSPP1) | XP_011515904.1:p.Phe49Tyr | |
| XM_011517603.1:c.-143T>A (CSPP1) | XP_011515905.1:n.-143T>A | |
| XM_011517604.1:c.-131T>A (CSPP1) | XP_011515906.1:n.-131T>A | |
| XM_011517606.1:c.-143T>A (CSPP1) | XP_011515908.1:n.-143T>A | |
| XM_011517607.1:c.-11+1886T>A (CSPP1) | XP_011515909.1:n.-11+1886T>A | |
| XM_011517608.1:c.-143T>A (CSPP1) | XP_011515910.1:n.-143T>A | |
| NM_001363131.1:c.-143T>A (CSPP1) | NP_001350060.1:n.-143T>A | |
| NM_001363132.1:c.-143T>A (CSPP1) | NP_001350061.1:n.-143T>A | |
| NM_001363133.1:c.-143T>A (CSPP1) | NP_001350062.1:n.-143T>A | |
| NM_001364869.1:c.8T>A (CSPP1) | NP_001351798.1:p.Phe3Tyr | |
| NM_001364870.1:c.8T>A (CSPP1) | NP_001351799.1:p.Phe3Tyr | |
| XM_005251305.4:c.146T>A (CSPP1) | XP_005251362.2:p.Phe49Tyr | |
| XM_006716474.3:c.146T>A (CSPP1) | XP_006716537.2:p.Phe49Tyr | |
| XM_006716477.3:c.146T>A (CSPP1) | XP_006716540.2:p.Phe49Tyr | |
| XM_011517598.2:c.146T>A (CSPP1) | XP_011515900.1:p.Phe49Tyr | |
| XM_011517599.2:c.146T>A (CSPP1) | XP_011515901.1:p.Phe49Tyr | |
| XM_011517600.2:c.146T>A (CSPP1) | XP_011515902.1:p.Phe49Tyr | |
| XM_011517601.2:c.146T>A (CSPP1) | XP_011515903.1:p.Phe49Tyr | |
| XM_011517602.2:c.146T>A (CSPP1) | XP_011515904.1:p.Phe49Tyr | |
| XM_011517603.2:c.-143T>A (CSPP1) | XP_011515905.1:n.-143T>A | |
| XM_011517607.2:c.-11+1886T>A (CSPP1) | XP_011515909.1:n.-11+1886T>A | |
| XM_017013847.2:c.146T>A (CSPP1) | XP_016869336.1:p.Phe49Tyr | |
| XM_017013848.2:c.146T>A (CSPP1) | XP_016869337.1:p.Phe49Tyr | |
| XM_017013849.2:c.146T>A (CSPP1) | XP_016869338.1:p.Phe49Tyr | |
| XM_017013850.2:c.146T>A (CSPP1) | XP_016869339.1:p.Phe49Tyr | |
| XM_017013851.2:c.-143T>A (CSPP1) | XP_016869340.1:n.-143T>A | |
| XM_017013852.2:c.146T>A (CSPP1) | XP_016869341.1:p.Phe49Tyr | |
| XM_017013854.2:c.146T>A (CSPP1) | XP_016869343.1:p.Phe49Tyr | |
| XM_017013855.2:c.146T>A (CSPP1) | XP_016869344.1:p.Phe49Tyr | |
| XM_017013856.2:c.-143T>A (CSPP1) | XP_016869345.1:n.-143T>A | |
| XM_024447278.1:c.-143T>A (CSPP1) | XP_024303046.1:n.-143T>A | |
| XM_024447279.1:c.-11+1886T>A (CSPP1) | XP_024303047.1:n.-11+1886T>A | |
| XM_024447281.1:c.-131T>A (CSPP1) | XP_024303049.1:n.-131T>A | |
| XM_024447282.1:c.-143T>A (CSPP1) | XP_024303050.1:n.-143T>A | |
| XM_024447283.1:c.-775T>A (CSPP1) | XP_024303051.1:n.-775T>A | |
| XM_024447284.1:c.-1365T>A (CSPP1) | XP_024303052.1:n.-1365T>A | |
| NM_001363131.2:c.-143T>A (CSPP1) | NP_001350060.1:n.-143T>A | |
| NM_001363132.2:c.-143T>A (CSPP1) | NP_001350061.1:n.-143T>A | |
| NM_001363133.2:c.-143T>A (CSPP1) | NP_001350062.1:n.-143T>A | |
| NM_001382391.1:c.-143T>A (CSPP1) MANE Select | NP_001369320.1:n.-143T>A |