Canonical Allele Identifier: CA4771023
Community Standard Title: NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
Gene: CSPP1 HGNC NCBI
ARFGEF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67175436G>A , CM000670.2:g.67175436G>A GRCh38
NC_000008.10:g.68087671G>A , CM000670.1:g.68087671G>A GRCh37
NC_000008.9:g.68250225G>A NCBI36
NG_034100.1:g.116069G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.3109G>A (CSPP1) MANE Select NP_001369320.1:p.Val1037Ile
ENST00000678616.1:c.3109G>A (CSPP1) MANE Select ENSP00000504733.1:p.Val1037Ile
NM_001291339.1:c.2059G>A (CSPP1) NP_001278268.1:p.Val687Ile
NM_001291339.2:c.2059G>A (CSPP1) NP_001278268.1:p.Val687Ile
NM_001363131.1:c.3028G>A (CSPP1) NP_001350060.1:p.Val1010Ile
NM_001363131.2:c.3028G>A (CSPP1) NP_001350060.1:p.Val1010Ile
NM_001363132.1:c.2914G>A (CSPP1) NP_001350061.1:p.Val972Ile
NM_001363132.2:c.2914G>A (CSPP1) NP_001350061.1:p.Val972Ile
NM_001363133.1:c.2833G>A (CSPP1) NP_001350062.1:p.Val945Ile
NM_001363133.2:c.2833G>A (CSPP1) NP_001350062.1:p.Val945Ile
NM_001364869.1:c.3175G>A (CSPP1) NP_001351798.1:p.Val1059Ile
NM_001364870.1:c.2995G>A (CSPP1) NP_001351799.1:p.Val999Ile
NM_024790.6:c.3094G>A (CSPP1) NP_079066.5:p.Val1032Ile
ENST00000262210.11:c.3175G>A (CSPP1) ENSP00000262210.6:p.Val1059Ile
ENST00000262210.9:c.3094G>A (CSPP1) ENSP00000262210.5:p.Val1032Ile
ENST00000519668.1:c.2059G>A (CSPP1) ENSP00000430092.1:p.Val687Ile
ENST00000520381.5:c.3957C>T (ARFGEF1)
ENST00000521168.5:n.1099G>A (CSPP1)
ENST00000521324.1:n.390G>A (CSPP1)
ENST00000521324.3:c.1177G>A (CSPP1)
ENST00000674993.1:c.3199G>A (CSPP1) ENSP00000502454.1:p.Val1067Ile
ENST00000675306.2:c.2833G>A (CSPP1) ENSP00000502421.1:p.Val945Ile
ENST00000675869.1:c.2914G>A (CSPP1) ENSP00000502747.1:p.Val972Ile
ENST00000675955.1:c.3028G>A (CSPP1) ENSP00000501676.1:p.Val1010Ile
ENST00000675990.1:n.4438G>A (CSPP1)
ENST00000676113.1:c.3067G>A (CSPP1) ENSP00000501645.1:p.Val1023Ile
ENST00000676317.1:c.3094G>A (CSPP1) ENSP00000502047.1:p.Val1032Ile
ENST00000676471.1:c.2842G>A (CSPP1) ENSP00000503711.1:p.Val948Ile
ENST00000676573.1:c.2410G>A (CSPP1) ENSP00000504532.1:p.Val804Ile
ENST00000676605.1:c.3217G>A (CSPP1) ENSP00000503605.1:p.Val1073Ile
ENST00000676804.1:c.1617G>A (CSPP1)
ENST00000676847.1:c.3088G>A (CSPP1) ENSP00000503336.1:p.Val1030Ile
ENST00000676858.1:c.*1070G>A (CSPP1) ENSP00000502925.1:n.*1070G>A
ENST00000676882.1:c.2995G>A (CSPP1) ENSP00000504342.1:p.Val999Ile
ENST00000676968.1:c.981G>A (CSPP1)
ENST00000676980.1:n.250G>A (CSPP1)
ENST00000677009.1:c.3094G>A (CSPP1) ENSP00000503297.1:p.Val1032Ile
ENST00000677052.1:n.2607G>A (CSPP1)
ENST00000677131.1:c.981G>A (CSPP1)
ENST00000677256.1:c.*2828G>A (CSPP1) ENSP00000504102.1:n.*2828G>A
ENST00000677430.1:c.*701G>A (CSPP1) ENSP00000504177.1:n.*701G>A
ENST00000677473.1:c.*1125G>A (CSPP1) ENSP00000503534.1:n.*1125G>A
ENST00000677538.1:n.491G>A (CSPP1)
ENST00000677592.1:c.3076G>A (CSPP1) ENSP00000504516.1:p.Val1026Ile
ENST00000677619.1:c.2455G>A (CSPP1) ENSP00000504522.1:p.Val819Ile
ENST00000677697.1:n.1072G>A (CSPP1)
ENST00000677845.1:c.*1480G>A (CSPP1) ENSP00000503524.1:n.*1480G>A
ENST00000677855.1:c.2417G>A (CSPP1) ENSP00000504757.1:n.2417G>A
ENST00000677964.1:c.1106G>A (CSPP1)
ENST00000678017.1:c.1960G>A (CSPP1) ENSP00000504394.1:p.Val654Ile
ENST00000678318.1:c.2644G>A (CSPP1) ENSP00000503690.1:p.Val882Ile
ENST00000678542.1:c.3217G>A (CSPP1) ENSP00000503878.1:p.Val1073Ile
ENST00000678635.1:n.1604G>A (CSPP1)
ENST00000678645.1:c.2986G>A (CSPP1) ENSP00000504031.1:p.Val996Ile
ENST00000678723.1:c.981G>A (CSPP1)
ENST00000678747.1:c.2536G>A (CSPP1) ENSP00000503390.1:p.Val846Ile
ENST00000678834.1:n.614G>A (CSPP1)
ENST00000678895.1:c.981G>A (CSPP1)
ENST00000679060.1:n.234G>A (CSPP1)
ENST00000679112.1:c.*3008G>A (CSPP1) ENSP00000503739.1:n.*3008G>A
ENST00000679226.1:c.2833G>A (CSPP1) ENSP00000503601.1:p.Gly945Arg
ENST00000679274.1:n.2033G>A (CSPP1)
ENST00000679295.1:n.2080G>A (CSPP1)
XM_005251136.2:c.*119C>T (ARFGEF1) XP_005251193.1:n.*119C>T
XM_005251136.4:c.*119C>T (ARFGEF1) XP_005251193.1:n.*119C>T
XM_005251305.3:c.3337G>A (CSPP1) XP_005251362.2:p.Val1113Ile
XM_005251305.4:c.3337G>A (CSPP1) XP_005251362.2:p.Val1113Ile
XM_006716474.2:c.3184G>A (CSPP1) XP_006716537.2:p.Val1062Ile
XM_006716474.3:c.3184G>A (CSPP1) XP_006716537.2:p.Val1062Ile
XM_006716477.2:c.2806G>A (CSPP1) XP_006716540.2:p.Val936Ile
XM_006716477.3:c.2806G>A (CSPP1) XP_006716540.2:p.Val936Ile
XM_011517598.1:c.3379G>A (CSPP1) XP_011515900.1:p.Val1127Ile
XM_011517598.2:c.3379G>A (CSPP1) XP_011515900.1:p.Val1127Ile
XM_011517599.1:c.3355G>A (CSPP1) XP_011515901.1:p.Val1119Ile
XM_011517599.2:c.3355G>A (CSPP1) XP_011515901.1:p.Val1119Ile
XM_011517600.1:c.3313G>A (CSPP1) XP_011515902.1:p.Val1105Ile
XM_011517600.2:c.3313G>A (CSPP1) XP_011515902.1:p.Val1105Ile
XM_011517601.1:c.3274G>A (CSPP1) XP_011515903.1:p.Val1092Ile
XM_011517601.2:c.3274G>A (CSPP1) XP_011515903.1:p.Val1092Ile
XM_011517602.1:c.3232G>A (CSPP1) XP_011515904.1:p.Val1078Ile
XM_011517602.2:c.3232G>A (CSPP1) XP_011515904.1:p.Val1078Ile
XM_011517603.1:c.3133G>A (CSPP1) XP_011515905.1:p.Val1045Ile
XM_011517603.2:c.3133G>A (CSPP1) XP_011515905.1:p.Val1045Ile
XM_011517604.1:c.3133G>A (CSPP1) XP_011515906.1:p.Val1045Ile
XM_011517605.1:c.3133G>A (CSPP1) XP_011515907.1:p.Val1045Ile
XM_011517606.1:c.3109G>A (CSPP1) XP_011515908.1:p.Val1037Ile
XM_011517607.1:c.3109G>A (CSPP1) XP_011515909.1:p.Val1037Ile
XM_011517607.2:c.3109G>A (CSPP1) XP_011515909.1:p.Val1037Ile
XM_011517608.1:c.3028G>A (CSPP1) XP_011515910.1:p.Val1010Ile
XM_011517609.1:c.2254G>A (CSPP1) XP_011515911.1:p.Val752Ile
XM_011517609.2:c.2254G>A (CSPP1) XP_011515911.1:p.Val752Ile
XM_011517610.1:c.1774G>A (CSPP1) XP_011515912.1:p.Val592Ile
XM_011517611.1:c.1414G>A (CSPP1) XP_011515913.1:p.Val472Ile
XM_011517611.3:c.1414G>A (CSPP1) XP_011515913.1:p.Val472Ile
XM_017013847.2:c.3238G>A (CSPP1) XP_016869336.1:p.Val1080Ile
XM_017013848.2:c.3214G>A (CSPP1) XP_016869337.1:p.Val1072Ile
XM_017013849.2:c.3175G>A (CSPP1) XP_016869338.1:p.Val1059Ile
XM_017013850.2:c.3133G>A (CSPP1) XP_016869339.1:p.Val1045Ile
XM_017013851.2:c.2986G>A (CSPP1) XP_016869340.1:p.Val996Ile
XM_017013852.2:c.2980G>A (CSPP1) XP_016869341.1:p.Val994Ile
XM_017013854.2:c.2782G>A (CSPP1) XP_016869343.1:p.Val928Ile
XM_017013855.2:c.2548G>A (CSPP1) XP_016869344.1:p.Val850Ile
XM_017013856.2:c.2455G>A (CSPP1) XP_016869345.1:p.Val819Ile
XM_017013858.2:c.1621G>A (CSPP1) XP_016869347.1:p.Val541Ile
XM_024447278.1:c.3109G>A (CSPP1) XP_024303046.1:p.Val1037Ile
XM_024447279.1:c.3028G>A (CSPP1) XP_024303047.1:p.Val1010Ile
XM_024447281.1:c.2833G>A (CSPP1) XP_024303049.1:p.Val945Ile
XM_024447282.1:c.2536G>A (CSPP1) XP_024303050.1:p.Val846Ile
XM_024447283.1:c.2212G>A (CSPP1) XP_024303051.1:p.Val738Ile
XM_024447284.1:c.1774G>A (CSPP1) XP_024303052.1:p.Val592Ile