Canonical Allele Identifier: CA371187975
Community Standard Title: NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
Gene: CSPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67154101C>T , CM000670.2:g.67154101C>T GRCh38
NC_000008.10:g.68066336C>T , CM000670.1:g.68066336C>T GRCh37
NC_000008.9:g.68228890C>T NCBI36
NG_034100.1:g.94734C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.2206C>T MANE Select NP_001369320.1:p.Gln736Ter
ENST00000678616.1:c.2206C>T MANE Select ENSP00000504733.1:p.Gln736Ter
NM_001291339.1:c.1156C>T NP_001278268.1:p.Gln386Ter
NM_001291339.2:c.1156C>T NP_001278268.1:p.Gln386Ter
NM_001363131.1:c.2125C>T NP_001350060.1:p.Gln709Ter
NM_001363131.2:c.2125C>T NP_001350060.1:p.Gln709Ter
NM_001363132.1:c.2011C>T NP_001350061.1:p.Gln671Ter
NM_001363132.2:c.2011C>T NP_001350061.1:p.Gln671Ter
NM_001363133.1:c.1930C>T NP_001350062.1:p.Gln644Ter
NM_001363133.2:c.1930C>T NP_001350062.1:p.Gln644Ter
NM_001364869.1:c.2272C>T NP_001351798.1:p.Gln758Ter
NM_001364870.1:c.2092C>T NP_001351799.1:p.Gln698Ter
NM_024790.6:c.2191C>T NP_079066.5:p.Gln731Ter
ENST00000262210.11:c.2272C>T ENSP00000262210.6:p.Gln758Ter
ENST00000262210.9:c.2191C>T ENSP00000262210.5:p.Gln731Ter
ENST00000519163.6:c.*2457C>T ENSP00000428694.1:n.*2457C>T
ENST00000519668.1:c.1156C>T ENSP00000430092.1:p.Gln386Ter
ENST00000521324.3:c.78C>T
ENST00000674993.1:c.2296C>T ENSP00000502454.1:p.Gln766Ter
ENST00000675306.2:c.1930C>T ENSP00000502421.1:p.Gln644Ter
ENST00000675869.1:c.2011C>T ENSP00000502747.1:p.Gln671Ter
ENST00000675955.1:c.2125C>T ENSP00000501676.1:p.Gln709Ter
ENST00000676113.1:c.2164C>T ENSP00000501645.1:p.Gln722Ter
ENST00000676317.1:c.2191C>T ENSP00000502047.1:p.Gln731Ter
ENST00000676471.1:c.1939C>T ENSP00000503711.1:p.Gln647Ter
ENST00000676534.1:n.5132C>T
ENST00000676567.1:c.*830C>T ENSP00000503427.1:n.*830C>T
ENST00000676573.1:c.1507C>T ENSP00000504532.1:p.Gln503Ter
ENST00000676605.1:c.2314C>T ENSP00000503605.1:p.Gln772Ter
ENST00000676695.1:c.2132C>T ENSP00000503292.1:n.2132C>T
ENST00000676697.1:n.3067C>T
ENST00000676804.1:c.509C>T
ENST00000676847.1:c.2185C>T ENSP00000503336.1:p.Gln729Ter
ENST00000676858.1:c.*167C>T ENSP00000502925.1:n.*167C>T
ENST00000676882.1:c.2092C>T ENSP00000504342.1:p.Gln698Ter
ENST00000676968.1:c.78C>T
ENST00000677009.1:c.2191C>T ENSP00000503297.1:p.Gln731Ter
ENST00000677052.1:n.1704C>T
ENST00000677131.1:c.78C>T
ENST00000677256.1:c.*1925C>T ENSP00000504102.1:n.*1925C>T
ENST00000677430.1:c.2125C>T ENSP00000504177.1:p.Gln709Ter
ENST00000677455.1:n.2079C>T
ENST00000677473.1:c.*222C>T ENSP00000503534.1:n.*222C>T
ENST00000677592.1:c.2173C>T ENSP00000504516.1:p.Gln725Ter
ENST00000677619.1:c.1552C>T ENSP00000504522.1:p.Gln518Ter
ENST00000677845.1:c.*577C>T ENSP00000503524.1:n.*577C>T
ENST00000677855.1:c.1550-4346C>T ENSP00000504757.1:n.1550-4346C>T
ENST00000677964.1:c.78C>T
ENST00000678017.1:c.1057C>T ENSP00000504394.1:p.Gln353Ter
ENST00000678138.1:n.2369C>T
ENST00000678156.1:n.1846C>T
ENST00000678318.1:c.1741C>T ENSP00000503690.1:p.Gln581Ter
ENST00000678362.1:c.*983C>T ENSP00000504317.1:n.*983C>T
ENST00000678542.1:c.2314C>T ENSP00000503878.1:p.Gln772Ter
ENST00000678635.1:n.701C>T
ENST00000678645.1:c.2083C>T ENSP00000504031.1:p.Gln695Ter
ENST00000678723.1:c.78C>T
ENST00000678747.1:c.1633C>T ENSP00000503390.1:p.Gln545Ter
ENST00000678807.1:n.1241C>T
ENST00000678895.1:c.78C>T
ENST00000679042.1:n.3031C>T
ENST00000679112.1:c.*2105C>T ENSP00000503739.1:n.*2105C>T
ENST00000679226.1:c.1930C>T ENSP00000503601.1:p.Gln644Ter
ENST00000679274.1:n.1130C>T
ENST00000679295.1:n.1177C>T
XM_005251305.3:c.2434C>T XP_005251362.2:p.Gln812Ter
XM_005251305.4:c.2434C>T XP_005251362.2:p.Gln812Ter
XM_006716474.2:c.2281C>T XP_006716537.2:p.Gln761Ter
XM_006716474.3:c.2281C>T XP_006716537.2:p.Gln761Ter
XM_006716477.2:c.1903C>T XP_006716540.2:p.Gln635Ter
XM_006716477.3:c.1903C>T XP_006716540.2:p.Gln635Ter
XM_011517598.1:c.2476C>T XP_011515900.1:p.Gln826Ter
XM_011517598.2:c.2476C>T XP_011515900.1:p.Gln826Ter
XM_011517599.1:c.2452C>T XP_011515901.1:p.Gln818Ter
XM_011517599.2:c.2452C>T XP_011515901.1:p.Gln818Ter
XM_011517600.1:c.2410C>T XP_011515902.1:p.Gln804Ter
XM_011517600.2:c.2410C>T XP_011515902.1:p.Gln804Ter
XM_011517601.1:c.2371C>T XP_011515903.1:p.Gln791Ter
XM_011517601.2:c.2371C>T XP_011515903.1:p.Gln791Ter
XM_011517602.1:c.2329C>T XP_011515904.1:p.Gln777Ter
XM_011517602.2:c.2329C>T XP_011515904.1:p.Gln777Ter
XM_011517603.1:c.2230C>T XP_011515905.1:p.Gln744Ter
XM_011517603.2:c.2230C>T XP_011515905.1:p.Gln744Ter
XM_011517604.1:c.2230C>T XP_011515906.1:p.Gln744Ter
XM_011517605.1:c.2230C>T XP_011515907.1:p.Gln744Ter
XM_011517606.1:c.2206C>T XP_011515908.1:p.Gln736Ter
XM_011517607.1:c.2206C>T XP_011515909.1:p.Gln736Ter
XM_011517607.2:c.2206C>T XP_011515909.1:p.Gln736Ter
XM_011517608.1:c.2125C>T XP_011515910.1:p.Gln709Ter
XM_011517609.1:c.1351C>T XP_011515911.1:p.Gln451Ter
XM_011517609.2:c.1351C>T XP_011515911.1:p.Gln451Ter
XM_011517610.1:c.871C>T XP_011515912.1:p.Gln291Ter
XM_011517611.1:c.511C>T XP_011515913.1:p.Gln171Ter
XM_011517611.3:c.511C>T XP_011515913.1:p.Gln171Ter
XM_017013847.2:c.2335C>T XP_016869336.1:p.Gln779Ter
XM_017013848.2:c.2311C>T XP_016869337.1:p.Gln771Ter
XM_017013849.2:c.2272C>T XP_016869338.1:p.Gln758Ter
XM_017013850.2:c.2230C>T XP_016869339.1:p.Gln744Ter
XM_017013851.2:c.2083C>T XP_016869340.1:p.Gln695Ter
XM_017013852.2:c.2077C>T XP_016869341.1:p.Gln693Ter
XM_017013854.2:c.1879C>T XP_016869343.1:p.Gln627Ter
XM_017013855.2:c.1645C>T XP_016869344.1:p.Gln549Ter
XM_017013856.2:c.1552C>T XP_016869345.1:p.Gln518Ter
XM_017013858.2:c.718C>T XP_016869347.1:p.Gln240Ter
XM_024447278.1:c.2206C>T XP_024303046.1:p.Gln736Ter
XM_024447279.1:c.2125C>T XP_024303047.1:p.Gln709Ter
XM_024447281.1:c.1930C>T XP_024303049.1:p.Gln644Ter
XM_024447282.1:c.1633C>T XP_024303050.1:p.Gln545Ter
XM_024447283.1:c.1309C>T XP_024303051.1:p.Gln437Ter
XM_024447284.1:c.871C>T XP_024303052.1:p.Gln291Ter