Linked Data
ClinVar Variation Id:
1693583
ClinVar RCV Id:
RCV002261479
dbSNP Id:
rs1837724111
gnomAD v3:
8-67195380-A-G
gnomAD v4:
8-67195380-A-G
COSMIC:
COSM486617
MutSpliceDB:
CA371203855
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67195380A>G , CM000670.2:g.67195380A>G | GRCh38 |
| NC_000008.10:g.68107615A>G , CM000670.1:g.68107615A>G | GRCh37 |
| NC_000008.9:g.68270169A>G | NCBI36 |
| NG_034100.1:g.136013A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.3536-2A>G (CSPP1) | ENSP00000262210.6:n.3536-2A>G | |
| ENST00000521324.3:c.1538-2A>G (CSPP1) | ||
| ENST00000674993.1:c.3560-2A>G (CSPP1) | ENSP00000502454.1:n.3560-2A>G | |
| ENST00000675306.2:c.3194-2A>G (CSPP1) | ENSP00000502421.1:n.3194-2A>G | |
| ENST00000675869.1:c.3275-2A>G (CSPP1) | ENSP00000502747.1:n.3275-2A>G | |
| ENST00000675955.1:c.3389-2A>G (CSPP1) | ENSP00000501676.1:n.3389-2A>G | |
| ENST00000675990.1:n.4799-2A>G (CSPP1) | ||
| ENST00000676113.1:c.3428-2A>G (CSPP1) | ENSP00000501645.1:n.3428-2A>G | |
| ENST00000676317.1:c.3455-2A>G (CSPP1) | ENSP00000502047.1:n.3455-2A>G | |
| ENST00000676471.1:c.3203-2A>G (CSPP1) | ENSP00000503711.1:n.3203-2A>G | |
| ENST00000676573.1:c.2771-2A>G (CSPP1) | ENSP00000504532.1:n.2771-2A>G | |
| ENST00000676605.1:c.3578-2A>G (CSPP1) | ENSP00000503605.1:n.3578-2A>G | |
| ENST00000676804.1:c.1978-2A>G (CSPP1) | ||
| ENST00000676847.1:c.3449-2A>G (CSPP1) | ENSP00000503336.1:n.3449-2A>G | |
| ENST00000676858.1:c.*1431-2A>G (CSPP1) | ENSP00000502925.1:n.*1431-2A>G | |
| ENST00000676882.1:c.3356-2A>G (CSPP1) | ENSP00000504342.1:n.3356-2A>G | |
| ENST00000676968.1:c.1517-2A>G (CSPP1) | ||
| ENST00000676980.1:n.726-2A>G (CSPP1) | ||
| ENST00000677009.1:c.3142-2A>G (CSPP1) | ENSP00000503297.1:n.3142-2A>G | |
| ENST00000677052.1:n.2968-2A>G (CSPP1) | ||
| ENST00000677131.1:c.1462-2A>G (CSPP1) | ||
| ENST00000677256.1:c.*3050-2A>G (CSPP1) | ENSP00000504102.1:n.*3050-2A>G | |
| ENST00000677430.1:c.*1062-2A>G (CSPP1) | ENSP00000504177.1:n.*1062-2A>G | |
| ENST00000677473.1:c.*1486-2A>G (CSPP1) | ENSP00000503534.1:n.*1486-2A>G | |
| ENST00000677538.1:n.852-2A>G (CSPP1) | ||
| ENST00000677592.1:c.3437-2A>G (CSPP1) | ENSP00000504516.1:n.3437-2A>G | |
| ENST00000677619.1:c.2816-2A>G (CSPP1) | ENSP00000504522.1:n.2816-2A>G | |
| ENST00000677697.1:n.1433-2A>G (CSPP1) | ||
| ENST00000677845.1:c.*1841-2A>G (CSPP1) | ENSP00000503524.1:n.*1841-2A>G | |
| ENST00000677855.1:c.2778-2A>G (CSPP1) | ENSP00000504757.1:n.2778-2A>G | |
| ENST00000677938.1:n.2410-2A>G (CSPP1) | ||
| ENST00000677964.1:c.1467-2A>G (CSPP1) | ||
| ENST00000678017.1:c.2321-2A>G (CSPP1) | ENSP00000504394.1:n.2321-2A>G | |
| ENST00000678318.1:c.3005-2A>G (CSPP1) | ENSP00000503690.1:n.3005-2A>G | |
| ENST00000678542.1:c.3578-2A>G (CSPP1) | ENSP00000503878.1:n.3578-2A>G | |
| ENST00000678616.1:c.3470-2A>G (CSPP1) MANE Select | ENSP00000504733.1:n.3470-2A>G | |
| ENST00000678635.1:n.1965-2A>G (CSPP1) | ||
| ENST00000678645.1:c.3347-2A>G (CSPP1) | ENSP00000504031.1:n.3347-2A>G | |
| ENST00000678685.1:n.317-2A>G (CSPP1) | ||
| ENST00000678723.1:c.1457-2A>G (CSPP1) | ||
| ENST00000678747.1:c.2897-2A>G (CSPP1) | ENSP00000503390.1:n.2897-2A>G | |
| ENST00000678834.1:n.975-2A>G (CSPP1) | ||
| ENST00000678895.1:c.1434-2A>G (CSPP1) | ||
| ENST00000679112.1:c.*3369-2A>G (CSPP1) | ENSP00000503739.1:n.*3369-2A>G | |
| ENST00000679226.1:c.3083-2A>G (CSPP1) | ENSP00000503601.1:n.3083-2A>G | |
| ENST00000679274.1:n.2394-2A>G (CSPP1) | ||
| ENST00000679295.1:n.2441-2A>G (CSPP1) | ||
| ENST00000679322.1:n.1514-2A>G (CSPP1) | ||
| ENST00000262210.9:c.3455-2A>G (CSPP1) | ENSP00000262210.5:n.3455-2A>G | |
| ENST00000518789.5:c.560+5016T>C (ARFGEF1) | ||
| ENST00000519668.1:c.2420-2A>G (CSPP1) | ENSP00000430092.1:n.2420-2A>G | |
| ENST00000520381.5:c.3820+5016T>C (ARFGEF1) | ||
| ENST00000521168.5:n.1321-2A>G (CSPP1) | ||
| NM_001291339.1:c.2420-2A>G (CSPP1) | NP_001278268.1:n.2420-2A>G | |
| NM_024790.6:c.3455-2A>G (CSPP1) | NP_079066.5:n.3455-2A>G | |
| XM_005251136.2:c.5385+5016T>C (ARFGEF1) | XP_005251193.1:n.5385+5016T>C | |
| XM_005251305.3:c.3698-2A>G (CSPP1) | XP_005251362.2:n.3698-2A>G | |
| XM_006716474.2:c.3545-2A>G (CSPP1) | XP_006716537.2:n.3545-2A>G | |
| XM_006716477.2:c.3167-2A>G (CSPP1) | XP_006716540.2:n.3167-2A>G | |
| XM_011517598.1:c.3740-2A>G (CSPP1) | XP_011515900.1:n.3740-2A>G | |
| XM_011517599.1:c.3716-2A>G (CSPP1) | XP_011515901.1:n.3716-2A>G | |
| XM_011517600.1:c.3674-2A>G (CSPP1) | XP_011515902.1:n.3674-2A>G | |
| XM_011517601.1:c.3635-2A>G (CSPP1) | XP_011515903.1:n.3635-2A>G | |
| XM_011517602.1:c.3593-2A>G (CSPP1) | XP_011515904.1:n.3593-2A>G | |
| XM_011517603.1:c.3494-2A>G (CSPP1) | XP_011515905.1:n.3494-2A>G | |
| XM_011517604.1:c.3494-2A>G (CSPP1) | XP_011515906.1:n.3494-2A>G | |
| XM_011517605.1:c.3494-2A>G (CSPP1) | XP_011515907.1:n.3494-2A>G | |
| XM_011517606.1:c.3470-2A>G (CSPP1) | XP_011515908.1:n.3470-2A>G | |
| XM_011517607.1:c.3470-2A>G (CSPP1) | XP_011515909.1:n.3470-2A>G | |
| XM_011517608.1:c.3389-2A>G (CSPP1) | XP_011515910.1:n.3389-2A>G | |
| XM_011517609.1:c.2615-2A>G (CSPP1) | XP_011515911.1:n.2615-2A>G | |
| XM_011517610.1:c.2135-2A>G (CSPP1) | XP_011515912.1:n.2135-2A>G | |
| XM_011517611.1:c.1775-2A>G (CSPP1) | XP_011515913.1:n.1775-2A>G | |
| NM_001363131.1:c.3389-2A>G (CSPP1) | NP_001350060.1:n.3389-2A>G | |
| NM_001363132.1:c.3275-2A>G (CSPP1) | NP_001350061.1:n.3275-2A>G | |
| NM_001363133.1:c.3194-2A>G (CSPP1) | NP_001350062.1:n.3194-2A>G | |
| NM_001364869.1:c.3536-2A>G (CSPP1) | NP_001351798.1:n.3536-2A>G | |
| NM_001364870.1:c.3356-2A>G (CSPP1) | NP_001351799.1:n.3356-2A>G | |
| XM_005251136.4:c.5385+5016T>C (ARFGEF1) | XP_005251193.1:n.5385+5016T>C | |
| XM_005251305.4:c.3698-2A>G (CSPP1) | XP_005251362.2:n.3698-2A>G | |
| XM_006716474.3:c.3545-2A>G (CSPP1) | XP_006716537.2:n.3545-2A>G | |
| XM_006716477.3:c.3167-2A>G (CSPP1) | XP_006716540.2:n.3167-2A>G | |
| XM_011517598.2:c.3740-2A>G (CSPP1) | XP_011515900.1:n.3740-2A>G | |
| XM_011517599.2:c.3716-2A>G (CSPP1) | XP_011515901.1:n.3716-2A>G | |
| XM_011517600.2:c.3674-2A>G (CSPP1) | XP_011515902.1:n.3674-2A>G | |
| XM_011517601.2:c.3635-2A>G (CSPP1) | XP_011515903.1:n.3635-2A>G | |
| XM_011517602.2:c.3593-2A>G (CSPP1) | XP_011515904.1:n.3593-2A>G | |
| XM_011517603.2:c.3494-2A>G (CSPP1) | XP_011515905.1:n.3494-2A>G | |
| XM_011517607.2:c.3470-2A>G (CSPP1) | XP_011515909.1:n.3470-2A>G | |
| XM_011517609.2:c.2615-2A>G (CSPP1) | XP_011515911.1:n.2615-2A>G | |
| XM_011517611.3:c.1775-2A>G (CSPP1) | XP_011515913.1:n.1775-2A>G | |
| XM_017013847.2:c.3599-2A>G (CSPP1) | XP_016869336.1:n.3599-2A>G | |
| XM_017013848.2:c.3575-2A>G (CSPP1) | XP_016869337.1:n.3575-2A>G | |
| XM_017013849.2:c.3536-2A>G (CSPP1) | XP_016869338.1:n.3536-2A>G | |
| XM_017013850.2:c.3494-2A>G (CSPP1) | XP_016869339.1:n.3494-2A>G | |
| XM_017013851.2:c.3347-2A>G (CSPP1) | XP_016869340.1:n.3347-2A>G | |
| XM_017013852.2:c.3341-2A>G (CSPP1) | XP_016869341.1:n.3341-2A>G | |
| XM_017013854.2:c.3143-2A>G (CSPP1) | XP_016869343.1:n.3143-2A>G | |
| XM_017013855.2:c.2909-2A>G (CSPP1) | XP_016869344.1:n.2909-2A>G | |
| XM_017013856.2:c.2816-2A>G (CSPP1) | XP_016869345.1:n.2816-2A>G | |
| XM_017013858.2:c.1982-2A>G (CSPP1) | XP_016869347.1:n.1982-2A>G | |
| XM_024447278.1:c.3470-2A>G (CSPP1) | XP_024303046.1:n.3470-2A>G | |
| XM_024447279.1:c.3389-2A>G (CSPP1) | XP_024303047.1:n.3389-2A>G | |
| XM_024447281.1:c.3194-2A>G (CSPP1) | XP_024303049.1:n.3194-2A>G | |
| XM_024447282.1:c.2897-2A>G (CSPP1) | XP_024303050.1:n.2897-2A>G | |
| XM_024447283.1:c.2573-2A>G (CSPP1) | XP_024303051.1:n.2573-2A>G | |
| XM_024447284.1:c.2135-2A>G (CSPP1) | XP_024303052.1:n.2135-2A>G | |
| NM_001363131.2:c.3389-2A>G (CSPP1) | NP_001350060.1:n.3389-2A>G | |
| NM_001363132.2:c.3275-2A>G (CSPP1) | NP_001350061.1:n.3275-2A>G | |
| NM_001363133.2:c.3194-2A>G (CSPP1) | NP_001350062.1:n.3194-2A>G | |
| NM_001291339.2:c.2420-2A>G (CSPP1) | NP_001278268.1:n.2420-2A>G | |
| NM_001382391.1:c.3470-2A>G (CSPP1) MANE Select | NP_001369320.1:n.3470-2A>G |