ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67064400T>A , CM000670.2:g.67064400T>A | GRCh38 |
| NC_000008.10:g.67976635T>A , CM000670.1:g.67976635T>A | GRCh37 |
| NC_000008.9:g.68139189T>A | NCBI36 |
| NG_034100.1:g.5033T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2T>A (CSPP1) | ENSP00000262210.6:p.Met1Lys | |
| ENST00000521919.6:c.-149T>A (CSPP1) | ENSP00000429546.2:n.-149T>A | |
| ENST00000674647.1:n.412T>A (CSPP1) | ||
| ENST00000674993.1:c.2T>A (CSPP1) | ENSP00000502454.1:p.Met1Lys | |
| ENST00000675306.2:c.-149T>A (CSPP1) | ENSP00000502421.1:n.-149T>A | |
| ENST00000675820.1:c.-107T>A (CSPP1) | ENSP00000501959.1:n.-107T>A | |
| ENST00000675869.1:c.-149T>A (CSPP1) | ENSP00000502747.1:n.-149T>A | |
| ENST00000675955.1:c.-149T>A (CSPP1) | ENSP00000501676.1:n.-149T>A | |
| ENST00000676113.1:c.-11+1880T>A (CSPP1) | ENSP00000501645.1:n.-11+1880T>A | |
| ENST00000676317.1:c.2T>A (CSPP1) | ENSP00000502047.1:p.Met1Lys | |
| ENST00000676471.1:c.2T>A (CSPP1) | ENSP00000503711.1:p.Met1Lys | |
| ENST00000676573.1:c.2T>A (CSPP1) | ENSP00000504532.1:p.Met1Lys | |
| ENST00000676605.1:c.2T>A (CSPP1) | ENSP00000503605.1:p.Met1Lys | |
| ENST00000676847.1:c.2T>A (CSPP1) | ENSP00000503336.1:p.Met1Lys | |
| ENST00000676882.1:c.2T>A (CSPP1) | ENSP00000504342.1:p.Met1Lys | |
| ENST00000677009.1:c.2T>A (CSPP1) | ENSP00000503297.1:p.Met1Lys | |
| ENST00000677071.1:n.10T>A (CSPP1) | ||
| ENST00000677256.1:c.-149T>A (CSPP1) | ENSP00000504102.1:n.-149T>A | |
| ENST00000677430.1:c.-149T>A (CSPP1) | ENSP00000504177.1:n.-149T>A | |
| ENST00000677455.1:n.13T>A (CSPP1) | ||
| ENST00000677473.1:c.2T>A (CSPP1) | ENSP00000503534.1:p.Met1Lys | |
| ENST00000677592.1:c.2T>A (CSPP1) | ENSP00000504516.1:p.Met1Lys | |
| ENST00000677619.1:c.-149T>A (CSPP1) | ENSP00000504522.1:n.-149T>A | |
| ENST00000678017.1:c.-672T>A (CSPP1) | ENSP00000504394.1:n.-672T>A | |
| ENST00000678156.1:n.65T>A (CSPP1) | ||
| ENST00000678204.1:c.2T>A (CSPP1) | ENSP00000504782.1:p.Met1Lys | |
| ENST00000678318.1:c.2T>A (CSPP1) | ENSP00000503690.1:p.Met1Lys | |
| ENST00000678362.1:c.-149T>A (CSPP1) | ENSP00000504317.1:n.-149T>A | |
| ENST00000678542.1:c.2T>A (CSPP1) | ENSP00000503878.1:p.Met1Lys | |
| ENST00000678553.1:c.2T>A (CSPP1) | ENSP00000503747.1:p.Met1Lys | |
| ENST00000678616.1:c.-149T>A (CSPP1) MANE Select | ENSP00000504733.1:n.-149T>A | |
| ENST00000678728.1:c.2T>A (CSPP1) | ENSP00000504830.1:p.Met1Lys | |
| ENST00000678927.1:n.33T>A (CSPP1) | ||
| ENST00000679226.1:c.-149T>A (CSPP1) | ENSP00000503601.1:n.-149T>A | |
| ENST00000262210.9:c.2T>A (CSPP1) | ENSP00000262210.5:p.Met1Lys | |
| ENST00000517736.5:c.-50+31A>T (COPS5) | ENSP00000429774.1:n.-50+31A>T | |
| ENST00000517793.1:n.239A>T (COPS5) | ||
| ENST00000518768.1:n.417-2220A>T (COPS5) | ||
| ENST00000519057.5:n.163-2141A>T (COPS5) | ||
| ENST00000519963.5:n.367-2141A>T (COPS5) | ||
| ENST00000521919.5:c.-11+1880T>A (CSPP1) | ENSP00000429546.1:n.-11+1880T>A | |
| NM_024790.6:c.2T>A (CSPP1) | NP_079066.5:p.Met1Lys | |
| XM_005251305.3:c.140T>A (CSPP1) | XP_005251362.2:p.Met47Lys | |
| XM_006716474.2:c.140T>A (CSPP1) | XP_006716537.2:p.Met47Lys | |
| XM_006716477.2:c.140T>A (CSPP1) | XP_006716540.2:p.Met47Lys | |
| XM_011517598.1:c.140T>A (CSPP1) | XP_011515900.1:p.Met47Lys | |
| XM_011517599.1:c.140T>A (CSPP1) | XP_011515901.1:p.Met47Lys | |
| XM_011517600.1:c.140T>A (CSPP1) | XP_011515902.1:p.Met47Lys | |
| XM_011517601.1:c.140T>A (CSPP1) | XP_011515903.1:p.Met47Lys | |
| XM_011517602.1:c.140T>A (CSPP1) | XP_011515904.1:p.Met47Lys | |
| XM_011517603.1:c.-149T>A (CSPP1) | XP_011515905.1:n.-149T>A | |
| XM_011517606.1:c.-149T>A (CSPP1) | XP_011515908.1:n.-149T>A | |
| XM_011517607.1:c.-11+1880T>A (CSPP1) | XP_011515909.1:n.-11+1880T>A | |
| XM_011517608.1:c.-149T>A (CSPP1) | XP_011515910.1:n.-149T>A | |
| NM_001363131.1:c.-149T>A (CSPP1) | NP_001350060.1:n.-149T>A | |
| NM_001363132.1:c.-149T>A (CSPP1) | NP_001350061.1:n.-149T>A | |
| NM_001363133.1:c.-149T>A (CSPP1) | NP_001350062.1:n.-149T>A | |
| NM_001364869.1:c.2T>A (CSPP1) | NP_001351798.1:p.Met1Lys | |
| NM_001364870.1:c.2T>A (CSPP1) | NP_001351799.1:p.Met1Lys | |
| XM_005251305.4:c.140T>A (CSPP1) | XP_005251362.2:p.Met47Lys | |
| XM_006716474.3:c.140T>A (CSPP1) | XP_006716537.2:p.Met47Lys | |
| XM_006716477.3:c.140T>A (CSPP1) | XP_006716540.2:p.Met47Lys | |
| XM_011517598.2:c.140T>A (CSPP1) | XP_011515900.1:p.Met47Lys | |
| XM_011517599.2:c.140T>A (CSPP1) | XP_011515901.1:p.Met47Lys | |
| XM_011517600.2:c.140T>A (CSPP1) | XP_011515902.1:p.Met47Lys | |
| XM_011517601.2:c.140T>A (CSPP1) | XP_011515903.1:p.Met47Lys | |
| XM_011517602.2:c.140T>A (CSPP1) | XP_011515904.1:p.Met47Lys | |
| XM_011517603.2:c.-149T>A (CSPP1) | XP_011515905.1:n.-149T>A | |
| XM_011517607.2:c.-11+1880T>A (CSPP1) | XP_011515909.1:n.-11+1880T>A | |
| XM_017013847.2:c.140T>A (CSPP1) | XP_016869336.1:p.Met47Lys | |
| XM_017013848.2:c.140T>A (CSPP1) | XP_016869337.1:p.Met47Lys | |
| XM_017013849.2:c.140T>A (CSPP1) | XP_016869338.1:p.Met47Lys | |
| XM_017013850.2:c.140T>A (CSPP1) | XP_016869339.1:p.Met47Lys | |
| XM_017013851.2:c.-149T>A (CSPP1) | XP_016869340.1:n.-149T>A | |
| XM_017013852.2:c.140T>A (CSPP1) | XP_016869341.1:p.Met47Lys | |
| XM_017013854.2:c.140T>A (CSPP1) | XP_016869343.1:p.Met47Lys | |
| XM_017013855.2:c.140T>A (CSPP1) | XP_016869344.1:p.Met47Lys | |
| XM_017013856.2:c.-149T>A (CSPP1) | XP_016869345.1:n.-149T>A | |
| XM_024447278.1:c.-149T>A (CSPP1) | XP_024303046.1:n.-149T>A | |
| XM_024447279.1:c.-11+1880T>A (CSPP1) | XP_024303047.1:n.-11+1880T>A | |
| XM_024447281.1:c.-137T>A (CSPP1) | XP_024303049.1:n.-137T>A | |
| XM_024447282.1:c.-149T>A (CSPP1) | XP_024303050.1:n.-149T>A | |
| XM_024447283.1:c.-781T>A (CSPP1) | XP_024303051.1:n.-781T>A | |
| NM_001363131.2:c.-149T>A (CSPP1) | NP_001350060.1:n.-149T>A | |
| NM_001363132.2:c.-149T>A (CSPP1) | NP_001350061.1:n.-149T>A | |
| NM_001363133.2:c.-149T>A (CSPP1) | NP_001350062.1:n.-149T>A | |
| NM_001382391.1:c.-149T>A (CSPP1) MANE Select | NP_001369320.1:n.-149T>A |