Canonical Allele Identifier: CA371186858

Gene: CSPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67149911G>T , CM000670.2:g.67149911G>T	GRCh38
NC_000008.10:g.68062146G>T , CM000670.1:g.68062146G>T	GRCh37
NC_000008.9:g.68224700G>T	NCBI36
NG_034100.1:g.90544G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001382391.1:c.2104G>T MANE Select	NP_001369320.1:p.Glu702Ter
ENST00000678616.1:c.2104G>T MANE Select	ENSP00000504733.1:p.Glu702Ter
NM_001291339.1:c.1079-4113G>T	NP_001278268.1:n.1079-4113G>T
NM_001291339.2:c.1079-4113G>T	NP_001278268.1:n.1079-4113G>T
NM_001363131.1:c.2023G>T	NP_001350060.1:p.Glu675Ter
NM_001363131.2:c.2023G>T	NP_001350060.1:p.Glu675Ter
NM_001363132.1:c.1934-4113G>T	NP_001350061.1:n.1934-4113G>T
NM_001363132.2:c.1934-4113G>T	NP_001350061.1:n.1934-4113G>T
NM_001363133.1:c.1853-4113G>T	NP_001350062.1:n.1853-4113G>T
NM_001363133.2:c.1853-4113G>T	NP_001350062.1:n.1853-4113G>T
NM_001364869.1:c.2170G>T	NP_001351798.1:p.Glu724Ter
NM_001364870.1:c.1990G>T	NP_001351799.1:p.Glu664Ter
NM_024790.6:c.2089G>T	NP_079066.5:p.Glu697Ter
ENST00000262210.11:c.2170G>T	ENSP00000262210.6:p.Glu724Ter
ENST00000262210.9:c.2089G>T	ENSP00000262210.5:p.Glu697Ter
ENST00000519163.6:c.*2355G>T	ENSP00000428694.1:n.*2355G>T
ENST00000519668.1:c.1079-4113G>T	ENSP00000430092.1:n.1079-4113G>T
ENST00000674993.1:c.2194G>T	ENSP00000502454.1:p.Glu732Ter
ENST00000675306.2:c.1853-4113G>T	ENSP00000502421.1:n.1853-4113G>T
ENST00000675869.1:c.1934-4113G>T	ENSP00000502747.1:n.1934-4113G>T
ENST00000675955.1:c.2023G>T	ENSP00000501676.1:p.Glu675Ter
ENST00000676113.1:c.2062G>T	ENSP00000501645.1:p.Glu688Ter
ENST00000676317.1:c.2089G>T	ENSP00000502047.1:p.Glu697Ter
ENST00000676471.1:c.1862-4113G>T	ENSP00000503711.1:n.1862-4113G>T
ENST00000676534.1:n.5030G>T
ENST00000676567.1:c.*753-4113G>T	ENSP00000503427.1:n.*753-4113G>T
ENST00000676573.1:c.1430-4113G>T	ENSP00000504532.1:n.1430-4113G>T
ENST00000676605.1:c.2212G>T	ENSP00000503605.1:p.Glu738Ter
ENST00000676695.1:c.1930G>T	ENSP00000503292.1:n.1930G>T
ENST00000676697.1:n.2865G>T
ENST00000676804.1:c.407G>T
ENST00000676847.1:c.2083G>T	ENSP00000503336.1:p.Glu695Ter
ENST00000676858.1:c.1975G>T	ENSP00000502925.1:p.Glu659Ter
ENST00000676882.1:c.1990G>T	ENSP00000504342.1:p.Glu664Ter
ENST00000677009.1:c.2089G>T	ENSP00000503297.1:p.Glu697Ter
ENST00000677052.1:n.1602G>T
ENST00000677256.1:c.*1823G>T	ENSP00000504102.1:n.*1823G>T
ENST00000677430.1:c.2023G>T	ENSP00000504177.1:p.Glu675Ter
ENST00000677455.1:n.2002-4113G>T
ENST00000677473.1:c.*120G>T	ENSP00000503534.1:n.*120G>T
ENST00000677592.1:c.2071G>T	ENSP00000504516.1:p.Glu691Ter
ENST00000677619.1:c.1450G>T	ENSP00000504522.1:p.Glu484Ter
ENST00000677845.1:c.*475G>T	ENSP00000503524.1:n.*475G>T
ENST00000677855.1:c.1550-8536G>T	ENSP00000504757.1:n.1550-8536G>T
ENST00000678017.1:c.980-4113G>T	ENSP00000504394.1:n.980-4113G>T
ENST00000678138.1:n.2292-4113G>T
ENST00000678156.1:n.1744G>T
ENST00000678318.1:c.1639G>T	ENSP00000503690.1:p.Glu547Ter
ENST00000678362.1:c.*881G>T	ENSP00000504317.1:n.*881G>T
ENST00000678542.1:c.2212G>T	ENSP00000503878.1:p.Glu738Ter
ENST00000678635.1:n.599G>T
ENST00000678645.1:c.1981G>T	ENSP00000504031.1:p.Glu661Ter
ENST00000678747.1:c.1531G>T	ENSP00000503390.1:p.Glu511Ter
ENST00000678807.1:n.1139G>T
ENST00000679042.1:n.2929G>T
ENST00000679112.1:c.*2003G>T	ENSP00000503739.1:n.*2003G>T
ENST00000679226.1:c.1853-4113G>T	ENSP00000503601.1:n.1853-4113G>T
ENST00000679274.1:n.1028G>T
XM_005251305.3:c.2332G>T	XP_005251362.2:p.Glu778Ter
XM_005251305.4:c.2332G>T	XP_005251362.2:p.Glu778Ter
XM_006716474.2:c.2204-4113G>T	XP_006716537.2:n.2204-4113G>T
XM_006716474.3:c.2204-4113G>T	XP_006716537.2:n.2204-4113G>T
XM_006716477.2:c.1801G>T	XP_006716540.2:p.Glu601Ter
XM_006716477.3:c.1801G>T	XP_006716540.2:p.Glu601Ter
XM_011517598.1:c.2374G>T	XP_011515900.1:p.Glu792Ter
XM_011517598.2:c.2374G>T	XP_011515900.1:p.Glu792Ter
XM_011517599.1:c.2350G>T	XP_011515901.1:p.Glu784Ter
XM_011517599.2:c.2350G>T	XP_011515901.1:p.Glu784Ter
XM_011517600.1:c.2308G>T	XP_011515902.1:p.Glu770Ter
XM_011517600.2:c.2308G>T	XP_011515902.1:p.Glu770Ter
XM_011517601.1:c.2269G>T	XP_011515903.1:p.Glu757Ter
XM_011517601.2:c.2269G>T	XP_011515903.1:p.Glu757Ter
XM_011517602.1:c.2227G>T	XP_011515904.1:p.Glu743Ter
XM_011517602.2:c.2227G>T	XP_011515904.1:p.Glu743Ter
XM_011517603.1:c.2128G>T	XP_011515905.1:p.Glu710Ter
XM_011517603.2:c.2128G>T	XP_011515905.1:p.Glu710Ter
XM_011517604.1:c.2128G>T	XP_011515906.1:p.Glu710Ter
XM_011517605.1:c.2128G>T	XP_011515907.1:p.Glu710Ter
XM_011517606.1:c.2104G>T	XP_011515908.1:p.Glu702Ter
XM_011517607.1:c.2104G>T	XP_011515909.1:p.Glu702Ter
XM_011517607.2:c.2104G>T	XP_011515909.1:p.Glu702Ter
XM_011517608.1:c.2023G>T	XP_011515910.1:p.Glu675Ter
XM_011517609.1:c.1249G>T	XP_011515911.1:p.Glu417Ter
XM_011517609.2:c.1249G>T	XP_011515911.1:p.Glu417Ter
XM_011517610.1:c.769G>T	XP_011515912.1:p.Glu257Ter
XM_011517611.1:c.409G>T	XP_011515913.1:p.Glu137Ter
XM_011517611.3:c.409G>T	XP_011515913.1:p.Glu137Ter
XM_017013847.2:c.2233G>T	XP_016869336.1:p.Glu745Ter
XM_017013848.2:c.2209G>T	XP_016869337.1:p.Glu737Ter
XM_017013849.2:c.2170G>T	XP_016869338.1:p.Glu724Ter
XM_017013850.2:c.2128G>T	XP_016869339.1:p.Glu710Ter
XM_017013851.2:c.1981G>T	XP_016869340.1:p.Glu661Ter
XM_017013852.2:c.2000-4113G>T	XP_016869341.1:n.2000-4113G>T
XM_017013854.2:c.1777G>T	XP_016869343.1:p.Glu593Ter
XM_017013855.2:c.1568-4113G>T	XP_016869344.1:n.1568-4113G>T
XM_017013856.2:c.1450G>T	XP_016869345.1:p.Glu484Ter
XM_017013858.2:c.641-4113G>T	XP_016869347.1:n.641-4113G>T
XM_024447278.1:c.2104G>T	XP_024303046.1:p.Glu702Ter
XM_024447279.1:c.2023G>T	XP_024303047.1:p.Glu675Ter
XM_024447281.1:c.1853-4113G>T	XP_024303049.1:n.1853-4113G>T
XM_024447282.1:c.1531G>T	XP_024303050.1:p.Glu511Ter
XM_024447283.1:c.1207G>T	XP_024303051.1:p.Glu403Ter
XM_024447284.1:c.769G>T	XP_024303052.1:p.Glu257Ter