Canonical Allele Identifier: CA4771103
Gene: CSPP1 HGNC NCBI
ARFGEF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 511950
dbSNP Id: rs750846829
gnomAD v2: 8-68102866-C-T
gnomAD v3: 8-67190631-C-T
gnomAD v4: 8-67190631-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67190631C>T , CM000670.2:g.67190631C>T GRCh38
NC_000008.10:g.68102866C>T , CM000670.1:g.68102866C>T GRCh37
NC_000008.9:g.68265420C>T NCBI36
NG_034100.1:g.131264C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262210.11:c.3287-19C>T (CSPP1) ENSP00000262210.6:n.3287-19C>T
ENST00000521324.3:c.1289-19C>T (CSPP1)
ENST00000674993.1:c.3311-19C>T (CSPP1) ENSP00000502454.1:n.3311-19C>T
ENST00000675306.2:c.2945-19C>T (CSPP1) ENSP00000502421.1:n.2945-19C>T
ENST00000675869.1:c.3026-19C>T (CSPP1) ENSP00000502747.1:n.3026-19C>T
ENST00000675955.1:c.3140-19C>T (CSPP1) ENSP00000501676.1:n.3140-19C>T
ENST00000675990.1:n.4550-19C>T (CSPP1)
ENST00000676113.1:c.3179-19C>T (CSPP1) ENSP00000501645.1:n.3179-19C>T
ENST00000676317.1:c.3206-19C>T (CSPP1) ENSP00000502047.1:n.3206-19C>T
ENST00000676471.1:c.2954-19C>T (CSPP1) ENSP00000503711.1:n.2954-19C>T
ENST00000676573.1:c.2522-19C>T (CSPP1) ENSP00000504532.1:n.2522-19C>T
ENST00000676605.1:c.3329-19C>T (CSPP1) ENSP00000503605.1:n.3329-19C>T
ENST00000676804.1:c.1729-19C>T (CSPP1)
ENST00000676847.1:c.3200-19C>T (CSPP1) ENSP00000503336.1:n.3200-19C>T
ENST00000676858.1:c.*1182-19C>T (CSPP1) ENSP00000502925.1:n.*1182-19C>T
ENST00000676882.1:c.3107-19C>T (CSPP1) ENSP00000504342.1:n.3107-19C>T
ENST00000676968.1:c.1268-19C>T (CSPP1)
ENST00000676980.1:n.362-19C>T (CSPP1)
ENST00000677009.1:c.3142-4751C>T (CSPP1) ENSP00000503297.1:n.3142-4751C>T
ENST00000677052.1:n.2719-19C>T (CSPP1)
ENST00000677131.1:c.1093-19C>T (CSPP1)
ENST00000677256.1:c.*2940-19C>T (CSPP1) ENSP00000504102.1:n.*2940-19C>T
ENST00000677430.1:c.*813-19C>T (CSPP1) ENSP00000504177.1:n.*813-19C>T
ENST00000677473.1:c.*1237-19C>T (CSPP1) ENSP00000503534.1:n.*1237-19C>T
ENST00000677538.1:n.603-19C>T (CSPP1)
ENST00000677592.1:c.3188-19C>T (CSPP1) ENSP00000504516.1:n.3188-19C>T
ENST00000677619.1:c.2567-19C>T (CSPP1) ENSP00000504522.1:n.2567-19C>T
ENST00000677697.1:n.1184-19C>T (CSPP1)
ENST00000677845.1:c.*1592-19C>T (CSPP1) ENSP00000503524.1:n.*1592-19C>T
ENST00000677855.1:c.2529-19C>T (CSPP1) ENSP00000504757.1:n.2529-19C>T
ENST00000677964.1:c.1218-19C>T (CSPP1)
ENST00000678017.1:c.2072-19C>T (CSPP1) ENSP00000504394.1:n.2072-19C>T
ENST00000678318.1:c.2756-19C>T (CSPP1) ENSP00000503690.1:n.2756-19C>T
ENST00000678542.1:c.3329-19C>T (CSPP1) ENSP00000503878.1:n.3329-19C>T
ENST00000678616.1:c.3221-19C>T (CSPP1) MANE Select ENSP00000504733.1:n.3221-19C>T
ENST00000678635.1:n.1716-19C>T (CSPP1)
ENST00000678645.1:c.3098-19C>T (CSPP1) ENSP00000504031.1:n.3098-19C>T
ENST00000678723.1:c.1093-19C>T (CSPP1)
ENST00000678747.1:c.2648-19C>T (CSPP1) ENSP00000503390.1:n.2648-19C>T
ENST00000678834.1:n.726-19C>T (CSPP1)
ENST00000678895.1:c.1093-19C>T (CSPP1)
ENST00000679060.1:n.346-19C>T (CSPP1)
ENST00000679112.1:c.*3120-19C>T (CSPP1) ENSP00000503739.1:n.*3120-19C>T
ENST00000679226.1:c.2834-19C>T (CSPP1) ENSP00000503601.1:n.2834-19C>T
ENST00000679274.1:n.2145-19C>T (CSPP1)
ENST00000679295.1:n.2192-19C>T (CSPP1)
ENST00000679322.1:n.1246C>T (CSPP1)
ENST00000262210.9:c.3206-19C>T (CSPP1) ENSP00000262210.5:n.3206-19C>T
ENST00000518789.5:c.560+9765G>A (ARFGEF1)
ENST00000519668.1:c.2171-19C>T (CSPP1) ENSP00000430092.1:n.2171-19C>T
ENST00000520381.5:c.3820+9765G>A (ARFGEF1)
ENST00000521168.5:n.1211-19C>T (CSPP1)
ENST00000521324.1:n.502-19C>T (CSPP1)
NM_001291339.1:c.2171-19C>T (CSPP1) NP_001278268.1:n.2171-19C>T
NM_024790.6:c.3206-19C>T (CSPP1) NP_079066.5:n.3206-19C>T
XM_005251136.2:c.5385+9765G>A (ARFGEF1) XP_005251193.1:n.5385+9765G>A
XM_005251305.3:c.3449-19C>T (CSPP1) XP_005251362.2:n.3449-19C>T
XM_006716474.2:c.3296-19C>T (CSPP1) XP_006716537.2:n.3296-19C>T
XM_006716477.2:c.2918-19C>T (CSPP1) XP_006716540.2:n.2918-19C>T
XM_011517598.1:c.3491-19C>T (CSPP1) XP_011515900.1:n.3491-19C>T
XM_011517599.1:c.3467-19C>T (CSPP1) XP_011515901.1:n.3467-19C>T
XM_011517600.1:c.3425-19C>T (CSPP1) XP_011515902.1:n.3425-19C>T
XM_011517601.1:c.3386-19C>T (CSPP1) XP_011515903.1:n.3386-19C>T
XM_011517602.1:c.3344-19C>T (CSPP1) XP_011515904.1:n.3344-19C>T
XM_011517603.1:c.3245-19C>T (CSPP1) XP_011515905.1:n.3245-19C>T
XM_011517604.1:c.3245-19C>T (CSPP1) XP_011515906.1:n.3245-19C>T
XM_011517605.1:c.3245-19C>T (CSPP1) XP_011515907.1:n.3245-19C>T
XM_011517606.1:c.3221-19C>T (CSPP1) XP_011515908.1:n.3221-19C>T
XM_011517607.1:c.3221-19C>T (CSPP1) XP_011515909.1:n.3221-19C>T
XM_011517608.1:c.3140-19C>T (CSPP1) XP_011515910.1:n.3140-19C>T
XM_011517609.1:c.2366-19C>T (CSPP1) XP_011515911.1:n.2366-19C>T
XM_011517610.1:c.1886-19C>T (CSPP1) XP_011515912.1:n.1886-19C>T
XM_011517611.1:c.1526-19C>T (CSPP1) XP_011515913.1:n.1526-19C>T
NM_001363131.1:c.3140-19C>T (CSPP1) NP_001350060.1:n.3140-19C>T
NM_001363132.1:c.3026-19C>T (CSPP1) NP_001350061.1:n.3026-19C>T
NM_001363133.1:c.2945-19C>T (CSPP1) NP_001350062.1:n.2945-19C>T
NM_001364869.1:c.3287-19C>T (CSPP1) NP_001351798.1:n.3287-19C>T
NM_001364870.1:c.3107-19C>T (CSPP1) NP_001351799.1:n.3107-19C>T
XM_005251136.4:c.5385+9765G>A (ARFGEF1) XP_005251193.1:n.5385+9765G>A
XM_005251305.4:c.3449-19C>T (CSPP1) XP_005251362.2:n.3449-19C>T
XM_006716474.3:c.3296-19C>T (CSPP1) XP_006716537.2:n.3296-19C>T
XM_006716477.3:c.2918-19C>T (CSPP1) XP_006716540.2:n.2918-19C>T
XM_011517598.2:c.3491-19C>T (CSPP1) XP_011515900.1:n.3491-19C>T
XM_011517599.2:c.3467-19C>T (CSPP1) XP_011515901.1:n.3467-19C>T
XM_011517600.2:c.3425-19C>T (CSPP1) XP_011515902.1:n.3425-19C>T
XM_011517601.2:c.3386-19C>T (CSPP1) XP_011515903.1:n.3386-19C>T
XM_011517602.2:c.3344-19C>T (CSPP1) XP_011515904.1:n.3344-19C>T
XM_011517603.2:c.3245-19C>T (CSPP1) XP_011515905.1:n.3245-19C>T
XM_011517607.2:c.3221-19C>T (CSPP1) XP_011515909.1:n.3221-19C>T
XM_011517609.2:c.2366-19C>T (CSPP1) XP_011515911.1:n.2366-19C>T
XM_011517611.3:c.1526-19C>T (CSPP1) XP_011515913.1:n.1526-19C>T
XM_017013847.2:c.3350-19C>T (CSPP1) XP_016869336.1:n.3350-19C>T
XM_017013848.2:c.3326-19C>T (CSPP1) XP_016869337.1:n.3326-19C>T
XM_017013849.2:c.3287-19C>T (CSPP1) XP_016869338.1:n.3287-19C>T
XM_017013850.2:c.3245-19C>T (CSPP1) XP_016869339.1:n.3245-19C>T
XM_017013851.2:c.3098-19C>T (CSPP1) XP_016869340.1:n.3098-19C>T
XM_017013852.2:c.3092-19C>T (CSPP1) XP_016869341.1:n.3092-19C>T
XM_017013854.2:c.2894-19C>T (CSPP1) XP_016869343.1:n.2894-19C>T
XM_017013855.2:c.2660-19C>T (CSPP1) XP_016869344.1:n.2660-19C>T
XM_017013856.2:c.2567-19C>T (CSPP1) XP_016869345.1:n.2567-19C>T
XM_017013858.2:c.1733-19C>T (CSPP1) XP_016869347.1:n.1733-19C>T
XM_024447278.1:c.3221-19C>T (CSPP1) XP_024303046.1:n.3221-19C>T
XM_024447279.1:c.3140-19C>T (CSPP1) XP_024303047.1:n.3140-19C>T
XM_024447281.1:c.2945-19C>T (CSPP1) XP_024303049.1:n.2945-19C>T
XM_024447282.1:c.2648-19C>T (CSPP1) XP_024303050.1:n.2648-19C>T
XM_024447283.1:c.2324-19C>T (CSPP1) XP_024303051.1:n.2324-19C>T
XM_024447284.1:c.1886-19C>T (CSPP1) XP_024303052.1:n.1886-19C>T
NM_001363131.2:c.3140-19C>T (CSPP1) NP_001350060.1:n.3140-19C>T
NM_001363132.2:c.3026-19C>T (CSPP1) NP_001350061.1:n.3026-19C>T
NM_001363133.2:c.2945-19C>T (CSPP1) NP_001350062.1:n.2945-19C>T
NM_001291339.2:c.2171-19C>T (CSPP1) NP_001278268.1:n.2171-19C>T
NM_001382391.1:c.3221-19C>T (CSPP1) MANE Select NP_001369320.1:n.3221-19C>T