Canonical Allele Identifier: CA371194062
Community Standard Title: NM_001382391.1(CSPP1):c.1022+1G>T
Gene: CSPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67103136G>T , CM000670.2:g.67103136G>T GRCh38
NC_000008.10:g.68015371G>T , CM000670.1:g.68015371G>T GRCh37
NC_000008.9:g.68177925G>T NCBI36
NG_034100.1:g.43769G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.1022+1G>T MANE Select NP_001369320.1:n.1022+1G>T
ENST00000678616.1:c.1022+1G>T MANE Select ENSP00000504733.1:n.1022+1G>T
NM_001291339.1:c.167+1G>T NP_001278268.1:n.167+1G>T
NM_001291339.2:c.167+1G>T NP_001278268.1:n.167+1G>T
NM_001363131.1:c.941+1G>T NP_001350060.1:n.941+1G>T
NM_001363131.2:c.941+1G>T NP_001350060.1:n.941+1G>T
NM_001363132.1:c.1022+1G>T NP_001350061.1:n.1022+1G>T
NM_001363132.2:c.1022+1G>T NP_001350061.1:n.1022+1G>T
NM_001363133.1:c.941+1G>T NP_001350062.1:n.941+1G>T
NM_001363133.2:c.941+1G>T NP_001350062.1:n.941+1G>T
NM_001364869.1:c.1130+1G>T NP_001351798.1:n.1130+1G>T
NM_001364870.1:c.951-2769G>T NP_001351799.1:n.951-2769G>T
NM_024790.6:c.1049+1G>T NP_079066.5:n.1049+1G>T
ENST00000262210.11:c.1130+1G>T ENSP00000262210.6:n.1130+1G>T
ENST00000262210.9:c.1049+1G>T ENSP00000262210.5:n.1049+1G>T
ENST00000519163.6:c.1046+1G>T ENSP00000428694.1:n.1046+1G>T
ENST00000519668.1:c.167+1G>T ENSP00000430092.1:n.167+1G>T
ENST00000674993.1:c.1154+1G>T ENSP00000502454.1:n.1154+1G>T
ENST00000675306.2:c.941+1G>T ENSP00000502421.1:n.941+1G>T
ENST00000675820.1:c.*813+1G>T ENSP00000501959.1:n.*813+1G>T
ENST00000675869.1:c.1022+1G>T ENSP00000502747.1:n.1022+1G>T
ENST00000675955.1:c.941+1G>T ENSP00000501676.1:n.941+1G>T
ENST00000676113.1:c.1022+1G>T ENSP00000501645.1:n.1022+1G>T
ENST00000676317.1:c.1049+1G>T ENSP00000502047.1:n.1049+1G>T
ENST00000676471.1:c.951-2769G>T ENSP00000503711.1:n.951-2769G>T
ENST00000676534.1:n.3948+1G>T
ENST00000676567.1:c.843-2769G>T ENSP00000503427.1:n.843-2769G>T
ENST00000676573.1:c.950+7404G>T ENSP00000504532.1:n.950+7404G>T
ENST00000676605.1:c.1172+1G>T ENSP00000503605.1:n.1172+1G>T
ENST00000676695.1:c.638+1G>T ENSP00000503292.1:n.638+1G>T
ENST00000676697.1:n.1783+1G>T
ENST00000676847.1:c.1043+1G>T ENSP00000503336.1:n.1043+1G>T
ENST00000676858.1:c.843-2433G>T ENSP00000502925.1:n.843-2433G>T
ENST00000676882.1:c.951-2769G>T ENSP00000504342.1:n.951-2769G>T
ENST00000677009.1:c.1049+1G>T ENSP00000503297.1:n.1049+1G>T
ENST00000677070.1:c.638+1G>T ENSP00000503014.1:n.638+1G>T
ENST00000677256.1:c.*783+1G>T ENSP00000504102.1:n.*783+1G>T
ENST00000677430.1:c.941+1G>T ENSP00000504177.1:n.941+1G>T
ENST00000677455.1:n.1090+1G>T
ENST00000677473.1:c.950+1G>T ENSP00000503534.1:n.950+1G>T
ENST00000677592.1:c.1032-2769G>T ENSP00000504516.1:n.1032-2769G>T
ENST00000677619.1:c.842+7404G>T ENSP00000504522.1:n.842+7404G>T
ENST00000677836.1:c.638+1G>T ENSP00000504345.1:n.638+1G>T
ENST00000677845.1:c.842+7404G>T ENSP00000503524.1:n.842+7404G>T
ENST00000677855.1:c.638+1G>T ENSP00000504757.1:n.638+1G>T
ENST00000678017.1:c.69-2769G>T ENSP00000504394.1:n.69-2769G>T
ENST00000678138.1:n.1308+1G>T
ENST00000678156.1:n.1136+7404G>T
ENST00000678204.1:c.*724+1G>T ENSP00000504782.1:n.*724+1G>T
ENST00000678216.1:n.656+1G>T
ENST00000678318.1:c.1031+7404G>T ENSP00000503690.1:n.1031+7404G>T
ENST00000678362.1:c.941+1G>T ENSP00000504317.1:n.941+1G>T
ENST00000678444.1:c.638+1G>T ENSP00000503879.1:n.638+1G>T
ENST00000678542.1:c.1130+1G>T ENSP00000503878.1:n.1130+1G>T
ENST00000678553.1:c.951-2769G>T ENSP00000503747.1:n.951-2769G>T
ENST00000678645.1:c.941+1G>T ENSP00000504031.1:n.941+1G>T
ENST00000678728.1:c.1049+1G>T ENSP00000504830.1:n.1049+1G>T
ENST00000678744.1:c.*621+1G>T ENSP00000503495.1:n.*621+1G>T
ENST00000678747.1:c.923+7404G>T ENSP00000503390.1:n.923+7404G>T
ENST00000678807.1:n.247+1G>T
ENST00000678821.1:n.2335+1G>T
ENST00000679112.1:c.*963+1G>T ENSP00000503739.1:n.*963+1G>T
ENST00000679226.1:c.941+1G>T ENSP00000503601.1:n.941+1G>T
XM_005251305.3:c.1292+1G>T XP_005251362.2:n.1292+1G>T
XM_005251305.4:c.1292+1G>T XP_005251362.2:n.1292+1G>T
XM_006716474.2:c.1292+1G>T XP_006716537.2:n.1292+1G>T
XM_006716474.3:c.1292+1G>T XP_006716537.2:n.1292+1G>T
XM_006716477.2:c.1193+7404G>T XP_006716540.2:n.1193+7404G>T
XM_006716477.3:c.1193+7404G>T XP_006716540.2:n.1193+7404G>T
XM_011517598.1:c.1292+1G>T XP_011515900.1:n.1292+1G>T
XM_011517598.2:c.1292+1G>T XP_011515900.1:n.1292+1G>T
XM_011517599.1:c.1268+1G>T XP_011515901.1:n.1268+1G>T
XM_011517599.2:c.1268+1G>T XP_011515901.1:n.1268+1G>T
XM_011517600.1:c.1268+1G>T XP_011515902.1:n.1268+1G>T
XM_011517600.2:c.1268+1G>T XP_011515902.1:n.1268+1G>T
XM_011517601.1:c.1187+1G>T XP_011515903.1:n.1187+1G>T
XM_011517601.2:c.1187+1G>T XP_011515903.1:n.1187+1G>T
XM_011517602.1:c.1187+1G>T XP_011515904.1:n.1187+1G>T
XM_011517602.2:c.1187+1G>T XP_011515904.1:n.1187+1G>T
XM_011517603.1:c.1046+1G>T XP_011515905.1:n.1046+1G>T
XM_011517603.2:c.1046+1G>T XP_011515905.1:n.1046+1G>T
XM_011517604.1:c.1046+1G>T XP_011515906.1:n.1046+1G>T
XM_011517605.1:c.1046+1G>T XP_011515907.1:n.1046+1G>T
XM_011517606.1:c.1022+1G>T XP_011515908.1:n.1022+1G>T
XM_011517607.1:c.1022+1G>T XP_011515909.1:n.1022+1G>T
XM_011517607.2:c.1022+1G>T XP_011515909.1:n.1022+1G>T
XM_011517608.1:c.941+1G>T XP_011515910.1:n.941+1G>T
XM_011517609.1:c.167+1G>T XP_011515911.1:n.167+1G>T
XM_011517609.2:c.167+1G>T XP_011515911.1:n.167+1G>T
XM_017013847.2:c.1194-2769G>T XP_016869336.1:n.1194-2769G>T
XM_017013848.2:c.1170-2769G>T XP_016869337.1:n.1170-2769G>T
XM_017013849.2:c.1089-2769G>T XP_016869338.1:n.1089-2769G>T
XM_017013850.2:c.1089-2769G>T XP_016869339.1:n.1089-2769G>T
XM_017013851.2:c.941+1G>T XP_016869340.1:n.941+1G>T
XM_017013852.2:c.1089-2769G>T XP_016869341.1:n.1089-2769G>T
XM_017013854.2:c.1169+7404G>T XP_016869343.1:n.1169+7404G>T
XM_017013855.2:c.1088+7404G>T XP_016869344.1:n.1088+7404G>T
XM_017013856.2:c.842+7404G>T XP_016869345.1:n.842+7404G>T
XM_017013858.2:c.-281-2769G>T XP_016869347.1:n.-281-2769G>T
XM_024447278.1:c.1022+1G>T XP_024303046.1:n.1022+1G>T
XM_024447279.1:c.941+1G>T XP_024303047.1:n.941+1G>T
XM_024447281.1:c.941+1G>T XP_024303049.1:n.941+1G>T
XM_024447282.1:c.923+7404G>T XP_024303050.1:n.923+7404G>T
XM_024447283.1:c.167+1G>T XP_024303051.1:n.167+1G>T
XM_024447284.1:c.-282+1G>T XP_024303052.1:n.-282+1G>T