Canonical Allele Identifier: CA371188407

Gene: CSPP1

Linked Data

• ClinVar Variation Id: 2008008
• ClinVar RCV Id: RCV002833541
• MyVariant Identifiers: chr8:g.68070706G>T (hg19) ; chr8:g.67158471G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67158471G>T , CM000670.2:g.67158471G>T	GRCh38
NC_000008.10:g.68070706G>T , CM000670.1:g.68070706G>T	GRCh37
NC_000008.9:g.68233260G>T	NCBI36
NG_034100.1:g.99104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262210.11:c.2332G>T	ENSP00000262210.6:p.Glu778Ter
ENST00000521324.3:c.138G>T
ENST00000674993.1:c.2356G>T	ENSP00000502454.1:p.Glu786Ter
ENST00000675306.2:c.1990G>T	ENSP00000502421.1:p.Glu664Ter
ENST00000675869.1:c.2071G>T	ENSP00000502747.1:p.Glu691Ter
ENST00000675955.1:c.2185G>T	ENSP00000501676.1:p.Glu729Ter
ENST00000675990.1:n.3595G>T
ENST00000676113.1:c.2224G>T	ENSP00000501645.1:p.Glu742Ter
ENST00000676317.1:c.2251G>T	ENSP00000502047.1:p.Glu751Ter
ENST00000676471.1:c.1999G>T	ENSP00000503711.1:p.Glu667Ter
ENST00000676534.1:n.5192G>T
ENST00000676567.1:c.*890G>T	ENSP00000503427.1:n.*890G>T
ENST00000676573.1:c.1567G>T	ENSP00000504532.1:p.Glu523Ter
ENST00000676605.1:c.2374G>T	ENSP00000503605.1:p.Glu792Ter
ENST00000676695.1:c.2192G>T	ENSP00000503292.1:n.2192G>T
ENST00000676697.1:n.3127G>T
ENST00000676804.1:c.569G>T
ENST00000676847.1:c.2245G>T	ENSP00000503336.1:p.Glu749Ter
ENST00000676858.1:c.*227G>T	ENSP00000502925.1:n.*227G>T
ENST00000676882.1:c.2152G>T	ENSP00000504342.1:p.Glu718Ter
ENST00000676968.1:c.138G>T
ENST00000677009.1:c.2251G>T	ENSP00000503297.1:p.Glu751Ter
ENST00000677052.1:n.1764G>T
ENST00000677131.1:c.138G>T
ENST00000677256.1:c.*1985G>T	ENSP00000504102.1:n.*1985G>T
ENST00000677430.1:c.2185G>T	ENSP00000504177.1:p.Glu729Ter
ENST00000677455.1:n.2139G>T
ENST00000677473.1:c.*282G>T	ENSP00000503534.1:n.*282G>T
ENST00000677592.1:c.2233G>T	ENSP00000504516.1:p.Glu745Ter
ENST00000677619.1:c.1612G>T	ENSP00000504522.1:p.Glu538Ter
ENST00000677697.1:n.234G>T
ENST00000677845.1:c.*637G>T	ENSP00000503524.1:n.*637G>T
ENST00000677855.1:c.1574G>T	ENSP00000504757.1:n.1574G>T
ENST00000677964.1:c.138G>T
ENST00000678017.1:c.1117G>T	ENSP00000504394.1:p.Glu373Ter
ENST00000678138.1:n.2429G>T
ENST00000678156.1:n.1906G>T
ENST00000678318.1:c.1801G>T	ENSP00000503690.1:p.Glu601Ter
ENST00000678362.1:c.*1043G>T	ENSP00000504317.1:n.*1043G>T
ENST00000678542.1:c.2374G>T	ENSP00000503878.1:p.Glu792Ter
ENST00000678616.1:c.2266G>T MANE Select	ENSP00000504733.1:p.Glu756Ter
ENST00000678635.1:n.761G>T
ENST00000678645.1:c.2143G>T	ENSP00000504031.1:p.Glu715Ter
ENST00000678723.1:c.138G>T
ENST00000678747.1:c.1693G>T	ENSP00000503390.1:p.Glu565Ter
ENST00000678807.1:n.1301G>T
ENST00000678895.1:c.138G>T
ENST00000679042.1:n.3091G>T
ENST00000679112.1:c.*2165G>T	ENSP00000503739.1:n.*2165G>T
ENST00000679226.1:c.1990G>T	ENSP00000503601.1:p.Glu664Ter
ENST00000679274.1:n.1190G>T
ENST00000679295.1:n.1237G>T
ENST00000262210.9:c.2251G>T	ENSP00000262210.5:p.Glu751Ter
ENST00000519163.6:c.*2517G>T	ENSP00000428694.1:n.*2517G>T
ENST00000519668.1:c.1216G>T	ENSP00000430092.1:p.Glu406Ter
ENST00000521168.5:n.256G>T
NM_001291339.1:c.1216G>T	NP_001278268.1:p.Glu406Ter
NM_024790.6:c.2251G>T	NP_079066.5:p.Glu751Ter
XM_005251305.3:c.2494G>T	XP_005251362.2:p.Glu832Ter
XM_006716474.2:c.2341G>T	XP_006716537.2:p.Glu781Ter
XM_006716477.2:c.1963G>T	XP_006716540.2:p.Glu655Ter
XM_011517598.1:c.2536G>T	XP_011515900.1:p.Glu846Ter
XM_011517599.1:c.2512G>T	XP_011515901.1:p.Glu838Ter
XM_011517600.1:c.2470G>T	XP_011515902.1:p.Glu824Ter
XM_011517601.1:c.2431G>T	XP_011515903.1:p.Glu811Ter
XM_011517602.1:c.2389G>T	XP_011515904.1:p.Glu797Ter
XM_011517603.1:c.2290G>T	XP_011515905.1:p.Glu764Ter
XM_011517604.1:c.2290G>T	XP_011515906.1:p.Glu764Ter
XM_011517605.1:c.2290G>T	XP_011515907.1:p.Glu764Ter
XM_011517606.1:c.2266G>T	XP_011515908.1:p.Glu756Ter
XM_011517607.1:c.2266G>T	XP_011515909.1:p.Glu756Ter
XM_011517608.1:c.2185G>T	XP_011515910.1:p.Glu729Ter
XM_011517609.1:c.1411G>T	XP_011515911.1:p.Glu471Ter
XM_011517610.1:c.931G>T	XP_011515912.1:p.Glu311Ter
XM_011517611.1:c.571G>T	XP_011515913.1:p.Glu191Ter
NM_001363131.1:c.2185G>T	NP_001350060.1:p.Glu729Ter
NM_001363132.1:c.2071G>T	NP_001350061.1:p.Glu691Ter
NM_001363133.1:c.1990G>T	NP_001350062.1:p.Glu664Ter
NM_001364869.1:c.2332G>T	NP_001351798.1:p.Glu778Ter
NM_001364870.1:c.2152G>T	NP_001351799.1:p.Glu718Ter
XM_005251305.4:c.2494G>T	XP_005251362.2:p.Glu832Ter
XM_006716474.3:c.2341G>T	XP_006716537.2:p.Glu781Ter
XM_006716477.3:c.1963G>T	XP_006716540.2:p.Glu655Ter
XM_011517598.2:c.2536G>T	XP_011515900.1:p.Glu846Ter
XM_011517599.2:c.2512G>T	XP_011515901.1:p.Glu838Ter
XM_011517600.2:c.2470G>T	XP_011515902.1:p.Glu824Ter
XM_011517601.2:c.2431G>T	XP_011515903.1:p.Glu811Ter
XM_011517602.2:c.2389G>T	XP_011515904.1:p.Glu797Ter
XM_011517603.2:c.2290G>T	XP_011515905.1:p.Glu764Ter
XM_011517607.2:c.2266G>T	XP_011515909.1:p.Glu756Ter
XM_011517609.2:c.1411G>T	XP_011515911.1:p.Glu471Ter
XM_011517611.3:c.571G>T	XP_011515913.1:p.Glu191Ter
XM_017013847.2:c.2395G>T	XP_016869336.1:p.Glu799Ter
XM_017013848.2:c.2371G>T	XP_016869337.1:p.Glu791Ter
XM_017013849.2:c.2332G>T	XP_016869338.1:p.Glu778Ter
XM_017013850.2:c.2290G>T	XP_016869339.1:p.Glu764Ter
XM_017013851.2:c.2143G>T	XP_016869340.1:p.Glu715Ter
XM_017013852.2:c.2137G>T	XP_016869341.1:p.Glu713Ter
XM_017013854.2:c.1939G>T	XP_016869343.1:p.Glu647Ter
XM_017013855.2:c.1705G>T	XP_016869344.1:p.Glu569Ter
XM_017013856.2:c.1612G>T	XP_016869345.1:p.Glu538Ter
XM_017013858.2:c.778G>T	XP_016869347.1:p.Glu260Ter
XM_024447278.1:c.2266G>T	XP_024303046.1:p.Glu756Ter
XM_024447279.1:c.2185G>T	XP_024303047.1:p.Glu729Ter
XM_024447281.1:c.1990G>T	XP_024303049.1:p.Glu664Ter
XM_024447282.1:c.1693G>T	XP_024303050.1:p.Glu565Ter
XM_024447283.1:c.1369G>T	XP_024303051.1:p.Glu457Ter
XM_024447284.1:c.931G>T	XP_024303052.1:p.Glu311Ter
NM_001363131.2:c.2185G>T	NP_001350060.1:p.Glu729Ter
NM_001363132.2:c.2071G>T	NP_001350061.1:p.Glu691Ter
NM_001363133.2:c.1990G>T	NP_001350062.1:p.Glu664Ter
NM_001291339.2:c.1216G>T	NP_001278268.1:p.Glu406Ter
NM_001382391.1:c.2266G>T MANE Select	NP_001369320.1:p.Glu756Ter