Canonical Allele Identifier: CA4771009
Community Standard Title: NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)
Gene: CSPP1 HGNC NCBI
ARFGEF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67175307C>T , CM000670.2:g.67175307C>T GRCh38
NC_000008.10:g.68087542C>T , CM000670.1:g.68087542C>T GRCh37
NC_000008.9:g.68250096C>T NCBI36
NG_034100.1:g.115940C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.2980C>T (CSPP1) MANE Select NP_001369320.1:p.Arg994Ter
ENST00000678616.1:c.2980C>T (CSPP1) MANE Select ENSP00000504733.1:p.Arg994Ter
NM_001291339.1:c.1930C>T (CSPP1) NP_001278268.1:p.Arg644Ter
NM_001291339.2:c.1930C>T (CSPP1) NP_001278268.1:p.Arg644Ter
NM_001363131.1:c.2899C>T (CSPP1) NP_001350060.1:p.Arg967Ter
NM_001363131.2:c.2899C>T (CSPP1) NP_001350060.1:p.Arg967Ter
NM_001363132.1:c.2785C>T (CSPP1) NP_001350061.1:p.Arg929Ter
NM_001363132.2:c.2785C>T (CSPP1) NP_001350061.1:p.Arg929Ter
NM_001363133.1:c.2704C>T (CSPP1) NP_001350062.1:p.Arg902Ter
NM_001363133.2:c.2704C>T (CSPP1) NP_001350062.1:p.Arg902Ter
NM_001364869.1:c.3046C>T (CSPP1) NP_001351798.1:p.Arg1016Ter
NM_001364870.1:c.2866C>T (CSPP1) NP_001351799.1:p.Arg956Ter
NM_024790.6:c.2965C>T (CSPP1) NP_079066.5:p.Arg989Ter
ENST00000262210.11:c.3046C>T (CSPP1) ENSP00000262210.6:p.Arg1016Ter
ENST00000262210.9:c.2965C>T (CSPP1) ENSP00000262210.5:p.Arg989Ter
ENST00000519668.1:c.1930C>T (CSPP1) ENSP00000430092.1:p.Arg644Ter
ENST00000520381.5:c.4086G>A (ARFGEF1)
ENST00000521168.5:n.970C>T (CSPP1)
ENST00000521324.1:n.261C>T (CSPP1)
ENST00000521324.3:c.1048C>T (CSPP1)
ENST00000674993.1:c.3070C>T (CSPP1) ENSP00000502454.1:p.Arg1024Ter
ENST00000675306.2:c.2704C>T (CSPP1) ENSP00000502421.1:p.Arg902Ter
ENST00000675869.1:c.2785C>T (CSPP1) ENSP00000502747.1:p.Arg929Ter
ENST00000675955.1:c.2899C>T (CSPP1) ENSP00000501676.1:p.Arg967Ter
ENST00000675990.1:n.4309C>T (CSPP1)
ENST00000676113.1:c.2938C>T (CSPP1) ENSP00000501645.1:p.Arg980Ter
ENST00000676317.1:c.2965C>T (CSPP1) ENSP00000502047.1:p.Arg989Ter
ENST00000676471.1:c.2713C>T (CSPP1) ENSP00000503711.1:p.Arg905Ter
ENST00000676573.1:c.2281C>T (CSPP1) ENSP00000504532.1:p.Arg761Ter
ENST00000676605.1:c.3088C>T (CSPP1) ENSP00000503605.1:p.Arg1030Ter
ENST00000676804.1:c.1488C>T (CSPP1)
ENST00000676847.1:c.2959C>T (CSPP1) ENSP00000503336.1:p.Arg987Ter
ENST00000676858.1:c.*941C>T (CSPP1) ENSP00000502925.1:n.*941C>T
ENST00000676882.1:c.2866C>T (CSPP1) ENSP00000504342.1:p.Arg956Ter
ENST00000676968.1:c.852C>T (CSPP1)
ENST00000676980.1:n.121C>T (CSPP1)
ENST00000677009.1:c.2965C>T (CSPP1) ENSP00000503297.1:p.Arg989Ter
ENST00000677052.1:n.2478C>T (CSPP1)
ENST00000677131.1:c.852C>T (CSPP1)
ENST00000677256.1:c.*2699C>T (CSPP1) ENSP00000504102.1:n.*2699C>T
ENST00000677430.1:c.*572C>T (CSPP1) ENSP00000504177.1:n.*572C>T
ENST00000677473.1:c.*996C>T (CSPP1) ENSP00000503534.1:n.*996C>T
ENST00000677538.1:n.362C>T (CSPP1)
ENST00000677592.1:c.2947C>T (CSPP1) ENSP00000504516.1:p.Arg983Ter
ENST00000677619.1:c.2326C>T (CSPP1) ENSP00000504522.1:p.Arg776Ter
ENST00000677697.1:n.943C>T (CSPP1)
ENST00000677845.1:c.*1351C>T (CSPP1) ENSP00000503524.1:n.*1351C>T
ENST00000677855.1:c.2288C>T (CSPP1) ENSP00000504757.1:n.2288C>T
ENST00000677964.1:c.977C>T (CSPP1)
ENST00000678017.1:c.1831C>T (CSPP1) ENSP00000504394.1:p.Arg611Ter
ENST00000678318.1:c.2515C>T (CSPP1) ENSP00000503690.1:p.Arg839Ter
ENST00000678542.1:c.3088C>T (CSPP1) ENSP00000503878.1:p.Arg1030Ter
ENST00000678635.1:n.1475C>T (CSPP1)
ENST00000678645.1:c.2857C>T (CSPP1) ENSP00000504031.1:p.Arg953Ter
ENST00000678723.1:c.852C>T (CSPP1)
ENST00000678747.1:c.2407C>T (CSPP1) ENSP00000503390.1:p.Arg803Ter
ENST00000678834.1:n.485C>T (CSPP1)
ENST00000678895.1:c.852C>T (CSPP1)
ENST00000679060.1:n.105C>T (CSPP1)
ENST00000679112.1:c.*2879C>T (CSPP1) ENSP00000503739.1:n.*2879C>T
ENST00000679226.1:c.2704C>T (CSPP1) ENSP00000503601.1:p.Arg902Ter
ENST00000679274.1:n.1904C>T (CSPP1)
ENST00000679295.1:n.1951C>T (CSPP1)
XM_005251136.2:c.*248G>A (ARFGEF1) XP_005251193.1:n.*248G>A
XM_005251136.4:c.*248G>A (ARFGEF1) XP_005251193.1:n.*248G>A
XM_005251305.3:c.3208C>T (CSPP1) XP_005251362.2:p.Arg1070Ter
XM_005251305.4:c.3208C>T (CSPP1) XP_005251362.2:p.Arg1070Ter
XM_006716474.2:c.3055C>T (CSPP1) XP_006716537.2:p.Arg1019Ter
XM_006716474.3:c.3055C>T (CSPP1) XP_006716537.2:p.Arg1019Ter
XM_006716477.2:c.2677C>T (CSPP1) XP_006716540.2:p.Arg893Ter
XM_006716477.3:c.2677C>T (CSPP1) XP_006716540.2:p.Arg893Ter
XM_011517598.1:c.3250C>T (CSPP1) XP_011515900.1:p.Arg1084Ter
XM_011517598.2:c.3250C>T (CSPP1) XP_011515900.1:p.Arg1084Ter
XM_011517599.1:c.3226C>T (CSPP1) XP_011515901.1:p.Arg1076Ter
XM_011517599.2:c.3226C>T (CSPP1) XP_011515901.1:p.Arg1076Ter
XM_011517600.1:c.3184C>T (CSPP1) XP_011515902.1:p.Arg1062Ter
XM_011517600.2:c.3184C>T (CSPP1) XP_011515902.1:p.Arg1062Ter
XM_011517601.1:c.3145C>T (CSPP1) XP_011515903.1:p.Arg1049Ter
XM_011517601.2:c.3145C>T (CSPP1) XP_011515903.1:p.Arg1049Ter
XM_011517602.1:c.3103C>T (CSPP1) XP_011515904.1:p.Arg1035Ter
XM_011517602.2:c.3103C>T (CSPP1) XP_011515904.1:p.Arg1035Ter
XM_011517603.1:c.3004C>T (CSPP1) XP_011515905.1:p.Arg1002Ter
XM_011517603.2:c.3004C>T (CSPP1) XP_011515905.1:p.Arg1002Ter
XM_011517604.1:c.3004C>T (CSPP1) XP_011515906.1:p.Arg1002Ter
XM_011517605.1:c.3004C>T (CSPP1) XP_011515907.1:p.Arg1002Ter
XM_011517606.1:c.2980C>T (CSPP1) XP_011515908.1:p.Arg994Ter
XM_011517607.1:c.2980C>T (CSPP1) XP_011515909.1:p.Arg994Ter
XM_011517607.2:c.2980C>T (CSPP1) XP_011515909.1:p.Arg994Ter
XM_011517608.1:c.2899C>T (CSPP1) XP_011515910.1:p.Arg967Ter
XM_011517609.1:c.2125C>T (CSPP1) XP_011515911.1:p.Arg709Ter
XM_011517609.2:c.2125C>T (CSPP1) XP_011515911.1:p.Arg709Ter
XM_011517610.1:c.1645C>T (CSPP1) XP_011515912.1:p.Arg549Ter
XM_011517611.1:c.1285C>T (CSPP1) XP_011515913.1:p.Arg429Ter
XM_011517611.3:c.1285C>T (CSPP1) XP_011515913.1:p.Arg429Ter
XM_017013847.2:c.3109C>T (CSPP1) XP_016869336.1:p.Arg1037Ter
XM_017013848.2:c.3085C>T (CSPP1) XP_016869337.1:p.Arg1029Ter
XM_017013849.2:c.3046C>T (CSPP1) XP_016869338.1:p.Arg1016Ter
XM_017013850.2:c.3004C>T (CSPP1) XP_016869339.1:p.Arg1002Ter
XM_017013851.2:c.2857C>T (CSPP1) XP_016869340.1:p.Arg953Ter
XM_017013852.2:c.2851C>T (CSPP1) XP_016869341.1:p.Arg951Ter
XM_017013854.2:c.2653C>T (CSPP1) XP_016869343.1:p.Arg885Ter
XM_017013855.2:c.2419C>T (CSPP1) XP_016869344.1:p.Arg807Ter
XM_017013856.2:c.2326C>T (CSPP1) XP_016869345.1:p.Arg776Ter
XM_017013858.2:c.1492C>T (CSPP1) XP_016869347.1:p.Arg498Ter
XM_024447278.1:c.2980C>T (CSPP1) XP_024303046.1:p.Arg994Ter
XM_024447279.1:c.2899C>T (CSPP1) XP_024303047.1:p.Arg967Ter
XM_024447281.1:c.2704C>T (CSPP1) XP_024303049.1:p.Arg902Ter
XM_024447282.1:c.2407C>T (CSPP1) XP_024303050.1:p.Arg803Ter
XM_024447283.1:c.2083C>T (CSPP1) XP_024303051.1:p.Arg695Ter
XM_024447284.1:c.1645C>T (CSPP1) XP_024303052.1:p.Arg549Ter