Linked Data
ClinVar Variation Id:
422290
ClinVar RCV Id:
RCV000483022
dbSNP Id:
rs1064795687
gnomAD v4:
8-67177679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67177679G>A , CM000670.2:g.67177679G>A | GRCh38 |
| NC_000008.10:g.68089914G>A , CM000670.1:g.68089914G>A | GRCh37 |
| NC_000008.9:g.68252468G>A | NCBI36 |
| NG_034100.1:g.118312G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262210.11:c.3176-1G>A (CSPP1) | ENSP00000262210.6:n.3176-1G>A | |
| ENST00000521324.3:c.1178-1G>A (CSPP1) | ||
| ENST00000674993.1:c.3200-1G>A (CSPP1) | ENSP00000502454.1:n.3200-1G>A | |
| ENST00000675306.2:c.2834-1G>A (CSPP1) | ENSP00000502421.1:n.2834-1G>A | |
| ENST00000675869.1:c.2915-1G>A (CSPP1) | ENSP00000502747.1:n.2915-1G>A | |
| ENST00000675955.1:c.3029-1G>A (CSPP1) | ENSP00000501676.1:n.3029-1G>A | |
| ENST00000675990.1:n.4439-1G>A (CSPP1) | ||
| ENST00000676113.1:c.3068-1G>A (CSPP1) | ENSP00000501645.1:n.3068-1G>A | |
| ENST00000676317.1:c.3095-1G>A (CSPP1) | ENSP00000502047.1:n.3095-1G>A | |
| ENST00000676471.1:c.2843-1G>A (CSPP1) | ENSP00000503711.1:n.2843-1G>A | |
| ENST00000676573.1:c.2411-1G>A (CSPP1) | ENSP00000504532.1:n.2411-1G>A | |
| ENST00000676605.1:c.3218-1G>A (CSPP1) | ENSP00000503605.1:n.3218-1G>A | |
| ENST00000676804.1:c.1618-1G>A (CSPP1) | ||
| ENST00000676847.1:c.3089-1G>A (CSPP1) | ENSP00000503336.1:n.3089-1G>A | |
| ENST00000676858.1:c.*1071-1G>A (CSPP1) | ENSP00000502925.1:n.*1071-1G>A | |
| ENST00000676882.1:c.2996-1G>A (CSPP1) | ENSP00000504342.1:n.2996-1G>A | |
| ENST00000676968.1:c.982-1G>A (CSPP1) | ||
| ENST00000676980.1:n.251-1G>A (CSPP1) | ||
| ENST00000677009.1:c.3095-1G>A (CSPP1) | ENSP00000503297.1:n.3095-1G>A | |
| ENST00000677052.1:n.2608-1G>A (CSPP1) | ||
| ENST00000677131.1:c.982-1G>A (CSPP1) | ||
| ENST00000677256.1:c.*2829-1G>A (CSPP1) | ENSP00000504102.1:n.*2829-1G>A | |
| ENST00000677430.1:c.*702-1G>A (CSPP1) | ENSP00000504177.1:n.*702-1G>A | |
| ENST00000677473.1:c.*1126-1G>A (CSPP1) | ENSP00000503534.1:n.*1126-1G>A | |
| ENST00000677538.1:n.492-1G>A (CSPP1) | ||
| ENST00000677592.1:c.3077-1G>A (CSPP1) | ENSP00000504516.1:n.3077-1G>A | |
| ENST00000677619.1:c.2456-1G>A (CSPP1) | ENSP00000504522.1:n.2456-1G>A | |
| ENST00000677697.1:n.1073-1G>A (CSPP1) | ||
| ENST00000677845.1:c.*1481-1G>A (CSPP1) | ENSP00000503524.1:n.*1481-1G>A | |
| ENST00000677855.1:c.2418-1G>A (CSPP1) | ENSP00000504757.1:n.2418-1G>A | |
| ENST00000677964.1:c.1107-1G>A (CSPP1) | ||
| ENST00000678017.1:c.1961-1G>A (CSPP1) | ENSP00000504394.1:n.1961-1G>A | |
| ENST00000678318.1:c.2645-1G>A (CSPP1) | ENSP00000503690.1:n.2645-1G>A | |
| ENST00000678542.1:c.3218-1G>A (CSPP1) | ENSP00000503878.1:n.3218-1G>A | |
| ENST00000678616.1:c.3110-1G>A (CSPP1) MANE Select | ENSP00000504733.1:n.3110-1G>A | |
| ENST00000678635.1:n.1605-1G>A (CSPP1) | ||
| ENST00000678645.1:c.2987-1G>A (CSPP1) | ENSP00000504031.1:n.2987-1G>A | |
| ENST00000678723.1:c.982-1G>A (CSPP1) | ||
| ENST00000678747.1:c.2537-1G>A (CSPP1) | ENSP00000503390.1:n.2537-1G>A | |
| ENST00000678834.1:n.615-1G>A (CSPP1) | ||
| ENST00000678895.1:c.982-1G>A (CSPP1) | ||
| ENST00000679060.1:n.235-1G>A (CSPP1) | ||
| ENST00000679112.1:c.*3009-1G>A (CSPP1) | ENSP00000503739.1:n.*3009-1G>A | |
| ENST00000679226.1:c.2833+2243G>A (CSPP1) | ENSP00000503601.1:n.2833+2243G>A | |
| ENST00000679274.1:n.2034-1G>A (CSPP1) | ||
| ENST00000679295.1:n.2081-1G>A (CSPP1) | ||
| ENST00000262210.9:c.3095-1G>A (CSPP1) | ENSP00000262210.5:n.3095-1G>A | |
| ENST00000518789.5:c.561-2107C>T (ARFGEF1) | ||
| ENST00000519668.1:c.2060-1G>A (CSPP1) | ENSP00000430092.1:n.2060-1G>A | |
| ENST00000520381.5:c.3821-2107C>T (ARFGEF1) | ||
| ENST00000521168.5:n.1100-1G>A (CSPP1) | ||
| ENST00000521324.1:n.391-1G>A (CSPP1) | ||
| NM_001291339.1:c.2060-1G>A (CSPP1) | NP_001278268.1:n.2060-1G>A | |
| NM_024790.6:c.3095-1G>A (CSPP1) | NP_079066.5:n.3095-1G>A | |
| XM_005251136.2:c.5386-2107C>T (ARFGEF1) | XP_005251193.1:n.5386-2107C>T | |
| XM_005251305.3:c.3338-1G>A (CSPP1) | XP_005251362.2:n.3338-1G>A | |
| XM_006716474.2:c.3185-1G>A (CSPP1) | XP_006716537.2:n.3185-1G>A | |
| XM_006716477.2:c.2807-1G>A (CSPP1) | XP_006716540.2:n.2807-1G>A | |
| XM_011517598.1:c.3380-1G>A (CSPP1) | XP_011515900.1:n.3380-1G>A | |
| XM_011517599.1:c.3356-1G>A (CSPP1) | XP_011515901.1:n.3356-1G>A | |
| XM_011517600.1:c.3314-1G>A (CSPP1) | XP_011515902.1:n.3314-1G>A | |
| XM_011517601.1:c.3275-1G>A (CSPP1) | XP_011515903.1:n.3275-1G>A | |
| XM_011517602.1:c.3233-1G>A (CSPP1) | XP_011515904.1:n.3233-1G>A | |
| XM_011517603.1:c.3134-1G>A (CSPP1) | XP_011515905.1:n.3134-1G>A | |
| XM_011517604.1:c.3134-1G>A (CSPP1) | XP_011515906.1:n.3134-1G>A | |
| XM_011517605.1:c.3134-1G>A (CSPP1) | XP_011515907.1:n.3134-1G>A | |
| XM_011517606.1:c.3110-1G>A (CSPP1) | XP_011515908.1:n.3110-1G>A | |
| XM_011517607.1:c.3110-1G>A (CSPP1) | XP_011515909.1:n.3110-1G>A | |
| XM_011517608.1:c.3029-1G>A (CSPP1) | XP_011515910.1:n.3029-1G>A | |
| XM_011517609.1:c.2255-1G>A (CSPP1) | XP_011515911.1:n.2255-1G>A | |
| XM_011517610.1:c.1775-1G>A (CSPP1) | XP_011515912.1:n.1775-1G>A | |
| XM_011517611.1:c.1415-1G>A (CSPP1) | XP_011515913.1:n.1415-1G>A | |
| NM_001363131.1:c.3029-1G>A (CSPP1) | NP_001350060.1:n.3029-1G>A | |
| NM_001363132.1:c.2915-1G>A (CSPP1) | NP_001350061.1:n.2915-1G>A | |
| NM_001363133.1:c.2834-1G>A (CSPP1) | NP_001350062.1:n.2834-1G>A | |
| NM_001364869.1:c.3176-1G>A (CSPP1) | NP_001351798.1:n.3176-1G>A | |
| NM_001364870.1:c.2996-1G>A (CSPP1) | NP_001351799.1:n.2996-1G>A | |
| XM_005251136.4:c.5386-2107C>T (ARFGEF1) | XP_005251193.1:n.5386-2107C>T | |
| XM_005251305.4:c.3338-1G>A (CSPP1) | XP_005251362.2:n.3338-1G>A | |
| XM_006716474.3:c.3185-1G>A (CSPP1) | XP_006716537.2:n.3185-1G>A | |
| XM_006716477.3:c.2807-1G>A (CSPP1) | XP_006716540.2:n.2807-1G>A | |
| XM_011517598.2:c.3380-1G>A (CSPP1) | XP_011515900.1:n.3380-1G>A | |
| XM_011517599.2:c.3356-1G>A (CSPP1) | XP_011515901.1:n.3356-1G>A | |
| XM_011517600.2:c.3314-1G>A (CSPP1) | XP_011515902.1:n.3314-1G>A | |
| XM_011517601.2:c.3275-1G>A (CSPP1) | XP_011515903.1:n.3275-1G>A | |
| XM_011517602.2:c.3233-1G>A (CSPP1) | XP_011515904.1:n.3233-1G>A | |
| XM_011517603.2:c.3134-1G>A (CSPP1) | XP_011515905.1:n.3134-1G>A | |
| XM_011517607.2:c.3110-1G>A (CSPP1) | XP_011515909.1:n.3110-1G>A | |
| XM_011517609.2:c.2255-1G>A (CSPP1) | XP_011515911.1:n.2255-1G>A | |
| XM_011517611.3:c.1415-1G>A (CSPP1) | XP_011515913.1:n.1415-1G>A | |
| XM_017013847.2:c.3239-1G>A (CSPP1) | XP_016869336.1:n.3239-1G>A | |
| XM_017013848.2:c.3215-1G>A (CSPP1) | XP_016869337.1:n.3215-1G>A | |
| XM_017013849.2:c.3176-1G>A (CSPP1) | XP_016869338.1:n.3176-1G>A | |
| XM_017013850.2:c.3134-1G>A (CSPP1) | XP_016869339.1:n.3134-1G>A | |
| XM_017013851.2:c.2987-1G>A (CSPP1) | XP_016869340.1:n.2987-1G>A | |
| XM_017013852.2:c.2981-1G>A (CSPP1) | XP_016869341.1:n.2981-1G>A | |
| XM_017013854.2:c.2783-1G>A (CSPP1) | XP_016869343.1:n.2783-1G>A | |
| XM_017013855.2:c.2549-1G>A (CSPP1) | XP_016869344.1:n.2549-1G>A | |
| XM_017013856.2:c.2456-1G>A (CSPP1) | XP_016869345.1:n.2456-1G>A | |
| XM_017013858.2:c.1622-1G>A (CSPP1) | XP_016869347.1:n.1622-1G>A | |
| XM_024447278.1:c.3110-1G>A (CSPP1) | XP_024303046.1:n.3110-1G>A | |
| XM_024447279.1:c.3029-1G>A (CSPP1) | XP_024303047.1:n.3029-1G>A | |
| XM_024447281.1:c.2834-1G>A (CSPP1) | XP_024303049.1:n.2834-1G>A | |
| XM_024447282.1:c.2537-1G>A (CSPP1) | XP_024303050.1:n.2537-1G>A | |
| XM_024447283.1:c.2213-1G>A (CSPP1) | XP_024303051.1:n.2213-1G>A | |
| XM_024447284.1:c.1775-1G>A (CSPP1) | XP_024303052.1:n.1775-1G>A | |
| NM_001363131.2:c.3029-1G>A (CSPP1) | NP_001350060.1:n.3029-1G>A | |
| NM_001363132.2:c.2915-1G>A (CSPP1) | NP_001350061.1:n.2915-1G>A | |
| NM_001363133.2:c.2834-1G>A (CSPP1) | NP_001350062.1:n.2834-1G>A | |
| NM_001291339.2:c.2060-1G>A (CSPP1) | NP_001278268.1:n.2060-1G>A | |
| NM_001382391.1:c.3110-1G>A (CSPP1) MANE Select | NP_001369320.1:n.3110-1G>A |