Canonical Allele Identifier: CA178202659
Community Standard Title: NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)
Gene: CSPP1 HGNC NCBI
ARFGEF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67177712C>T , CM000670.2:g.67177712C>T GRCh38
NC_000008.10:g.68089947C>T , CM000670.1:g.68089947C>T GRCh37
NC_000008.9:g.68252501C>T NCBI36
NG_034100.1:g.118345C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.3142C>T (CSPP1) MANE Select NP_001369320.1:p.Arg1048Ter
ENST00000678616.1:c.3142C>T (CSPP1) MANE Select ENSP00000504733.1:p.Arg1048Ter
NM_001291339.1:c.2092C>T (CSPP1) NP_001278268.1:p.Arg698Ter
NM_001291339.2:c.2092C>T (CSPP1) NP_001278268.1:p.Arg698Ter
NM_001363131.1:c.3061C>T (CSPP1) NP_001350060.1:p.Arg1021Ter
NM_001363131.2:c.3061C>T (CSPP1) NP_001350060.1:p.Arg1021Ter
NM_001363132.1:c.2947C>T (CSPP1) NP_001350061.1:p.Arg983Ter
NM_001363132.2:c.2947C>T (CSPP1) NP_001350061.1:p.Arg983Ter
NM_001363133.1:c.2866C>T (CSPP1) NP_001350062.1:p.Arg956Ter
NM_001363133.2:c.2866C>T (CSPP1) NP_001350062.1:p.Arg956Ter
NM_001364869.1:c.3208C>T (CSPP1) NP_001351798.1:p.Arg1070Ter
NM_001364870.1:c.3028C>T (CSPP1) NP_001351799.1:p.Arg1010Ter
NM_024790.6:c.3127C>T (CSPP1) NP_079066.5:p.Arg1043Ter
ENST00000262210.11:c.3208C>T (CSPP1) ENSP00000262210.6:p.Arg1070Ter
ENST00000262210.9:c.3127C>T (CSPP1) ENSP00000262210.5:p.Arg1043Ter
ENST00000518789.5:c.561-2140G>A (ARFGEF1)
ENST00000519668.1:c.2092C>T (CSPP1) ENSP00000430092.1:p.Arg698Ter
ENST00000520381.5:c.3821-2140G>A (ARFGEF1)
ENST00000521168.5:n.1132C>T (CSPP1)
ENST00000521324.1:n.423C>T (CSPP1)
ENST00000521324.3:c.1210C>T (CSPP1)
ENST00000674993.1:c.3232C>T (CSPP1) ENSP00000502454.1:p.Arg1078Ter
ENST00000675306.2:c.2866C>T (CSPP1) ENSP00000502421.1:p.Arg956Ter
ENST00000675869.1:c.2947C>T (CSPP1) ENSP00000502747.1:p.Arg983Ter
ENST00000675955.1:c.3061C>T (CSPP1) ENSP00000501676.1:p.Arg1021Ter
ENST00000675990.1:n.4471C>T (CSPP1)
ENST00000676113.1:c.3100C>T (CSPP1) ENSP00000501645.1:p.Arg1034Ter
ENST00000676317.1:c.3127C>T (CSPP1) ENSP00000502047.1:p.Arg1043Ter
ENST00000676471.1:c.2875C>T (CSPP1) ENSP00000503711.1:p.Arg959Ter
ENST00000676573.1:c.2443C>T (CSPP1) ENSP00000504532.1:p.Arg815Ter
ENST00000676605.1:c.3250C>T (CSPP1) ENSP00000503605.1:p.Arg1084Ter
ENST00000676804.1:c.1650C>T (CSPP1)
ENST00000676847.1:c.3121C>T (CSPP1) ENSP00000503336.1:p.Arg1041Ter
ENST00000676858.1:c.*1103C>T (CSPP1) ENSP00000502925.1:n.*1103C>T
ENST00000676882.1:c.3028C>T (CSPP1) ENSP00000504342.1:p.Arg1010Ter
ENST00000676968.1:c.1014C>T (CSPP1)
ENST00000676980.1:n.283C>T (CSPP1)
ENST00000677009.1:c.3127C>T (CSPP1) ENSP00000503297.1:p.Arg1043Ter
ENST00000677052.1:n.2640C>T (CSPP1)
ENST00000677131.1:c.1014C>T (CSPP1)
ENST00000677256.1:c.*2861C>T (CSPP1) ENSP00000504102.1:n.*2861C>T
ENST00000677430.1:c.*734C>T (CSPP1) ENSP00000504177.1:n.*734C>T
ENST00000677473.1:c.*1158C>T (CSPP1) ENSP00000503534.1:n.*1158C>T
ENST00000677538.1:n.524C>T (CSPP1)
ENST00000677592.1:c.3109C>T (CSPP1) ENSP00000504516.1:p.Arg1037Ter
ENST00000677619.1:c.2488C>T (CSPP1) ENSP00000504522.1:p.Arg830Ter
ENST00000677697.1:n.1105C>T (CSPP1)
ENST00000677845.1:c.*1513C>T (CSPP1) ENSP00000503524.1:n.*1513C>T
ENST00000677855.1:c.2450C>T (CSPP1) ENSP00000504757.1:n.2450C>T
ENST00000677964.1:c.1139C>T (CSPP1)
ENST00000678017.1:c.1993C>T (CSPP1) ENSP00000504394.1:p.Arg665Ter
ENST00000678318.1:c.2677C>T (CSPP1) ENSP00000503690.1:p.Arg893Ter
ENST00000678542.1:c.3250C>T (CSPP1) ENSP00000503878.1:p.Arg1084Ter
ENST00000678635.1:n.1637C>T (CSPP1)
ENST00000678645.1:c.3019C>T (CSPP1) ENSP00000504031.1:p.Arg1007Ter
ENST00000678723.1:c.1014C>T (CSPP1)
ENST00000678747.1:c.2569C>T (CSPP1) ENSP00000503390.1:p.Arg857Ter
ENST00000678834.1:n.647C>T (CSPP1)
ENST00000678895.1:c.1014C>T (CSPP1)
ENST00000679060.1:n.267C>T (CSPP1)
ENST00000679112.1:c.*3041C>T (CSPP1) ENSP00000503739.1:n.*3041C>T
ENST00000679226.1:c.2833+2276C>T (CSPP1) ENSP00000503601.1:n.2833+2276C>T
ENST00000679274.1:n.2066C>T (CSPP1)
ENST00000679295.1:n.2113C>T (CSPP1)
XM_005251136.2:c.5386-2140G>A (ARFGEF1) XP_005251193.1:n.5386-2140G>A
XM_005251136.4:c.5386-2140G>A (ARFGEF1) XP_005251193.1:n.5386-2140G>A
XM_005251305.3:c.3370C>T (CSPP1) XP_005251362.2:p.Arg1124Ter
XM_005251305.4:c.3370C>T (CSPP1) XP_005251362.2:p.Arg1124Ter
XM_006716474.2:c.3217C>T (CSPP1) XP_006716537.2:p.Arg1073Ter
XM_006716474.3:c.3217C>T (CSPP1) XP_006716537.2:p.Arg1073Ter
XM_006716477.2:c.2839C>T (CSPP1) XP_006716540.2:p.Arg947Ter
XM_006716477.3:c.2839C>T (CSPP1) XP_006716540.2:p.Arg947Ter
XM_011517598.1:c.3412C>T (CSPP1) XP_011515900.1:p.Arg1138Ter
XM_011517598.2:c.3412C>T (CSPP1) XP_011515900.1:p.Arg1138Ter
XM_011517599.1:c.3388C>T (CSPP1) XP_011515901.1:p.Arg1130Ter
XM_011517599.2:c.3388C>T (CSPP1) XP_011515901.1:p.Arg1130Ter
XM_011517600.1:c.3346C>T (CSPP1) XP_011515902.1:p.Arg1116Ter
XM_011517600.2:c.3346C>T (CSPP1) XP_011515902.1:p.Arg1116Ter
XM_011517601.1:c.3307C>T (CSPP1) XP_011515903.1:p.Arg1103Ter
XM_011517601.2:c.3307C>T (CSPP1) XP_011515903.1:p.Arg1103Ter
XM_011517602.1:c.3265C>T (CSPP1) XP_011515904.1:p.Arg1089Ter
XM_011517602.2:c.3265C>T (CSPP1) XP_011515904.1:p.Arg1089Ter
XM_011517603.1:c.3166C>T (CSPP1) XP_011515905.1:p.Arg1056Ter
XM_011517603.2:c.3166C>T (CSPP1) XP_011515905.1:p.Arg1056Ter
XM_011517604.1:c.3166C>T (CSPP1) XP_011515906.1:p.Arg1056Ter
XM_011517605.1:c.3166C>T (CSPP1) XP_011515907.1:p.Arg1056Ter
XM_011517606.1:c.3142C>T (CSPP1) XP_011515908.1:p.Arg1048Ter
XM_011517607.1:c.3142C>T (CSPP1) XP_011515909.1:p.Arg1048Ter
XM_011517607.2:c.3142C>T (CSPP1) XP_011515909.1:p.Arg1048Ter
XM_011517608.1:c.3061C>T (CSPP1) XP_011515910.1:p.Arg1021Ter
XM_011517609.1:c.2287C>T (CSPP1) XP_011515911.1:p.Arg763Ter
XM_011517609.2:c.2287C>T (CSPP1) XP_011515911.1:p.Arg763Ter
XM_011517610.1:c.1807C>T (CSPP1) XP_011515912.1:p.Arg603Ter
XM_011517611.1:c.1447C>T (CSPP1) XP_011515913.1:p.Arg483Ter
XM_011517611.3:c.1447C>T (CSPP1) XP_011515913.1:p.Arg483Ter
XM_017013847.2:c.3271C>T (CSPP1) XP_016869336.1:p.Arg1091Ter
XM_017013848.2:c.3247C>T (CSPP1) XP_016869337.1:p.Arg1083Ter
XM_017013849.2:c.3208C>T (CSPP1) XP_016869338.1:p.Arg1070Ter
XM_017013850.2:c.3166C>T (CSPP1) XP_016869339.1:p.Arg1056Ter
XM_017013851.2:c.3019C>T (CSPP1) XP_016869340.1:p.Arg1007Ter
XM_017013852.2:c.3013C>T (CSPP1) XP_016869341.1:p.Arg1005Ter
XM_017013854.2:c.2815C>T (CSPP1) XP_016869343.1:p.Arg939Ter
XM_017013855.2:c.2581C>T (CSPP1) XP_016869344.1:p.Arg861Ter
XM_017013856.2:c.2488C>T (CSPP1) XP_016869345.1:p.Arg830Ter
XM_017013858.2:c.1654C>T (CSPP1) XP_016869347.1:p.Arg552Ter
XM_024447278.1:c.3142C>T (CSPP1) XP_024303046.1:p.Arg1048Ter
XM_024447279.1:c.3061C>T (CSPP1) XP_024303047.1:p.Arg1021Ter
XM_024447281.1:c.2866C>T (CSPP1) XP_024303049.1:p.Arg956Ter
XM_024447282.1:c.2569C>T (CSPP1) XP_024303050.1:p.Arg857Ter
XM_024447283.1:c.2245C>T (CSPP1) XP_024303051.1:p.Arg749Ter
XM_024447284.1:c.1807C>T (CSPP1) XP_024303052.1:p.Arg603Ter