Canonical Allele Identifier: CA371205223

Gene: CSPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67137462G>T , CM000670.2:g.67137462G>T	GRCh38
NC_000008.10:g.68049697G>T , CM000670.1:g.68049697G>T	GRCh37
NC_000008.9:g.68212251G>T	NCBI36
NG_034100.1:g.78095G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001382391.1:c.1834G>T MANE Select	NP_001369320.1:p.Glu612Ter
ENST00000678616.1:c.1834G>T MANE Select	ENSP00000504733.1:p.Glu612Ter
NM_001291339.1:c.937G>T	NP_001278268.1:p.Glu313Ter
NM_001291339.2:c.937G>T	NP_001278268.1:p.Glu313Ter
NM_001363131.1:c.1753G>T	NP_001350060.1:p.Glu585Ter
NM_001363131.2:c.1753G>T	NP_001350060.1:p.Glu585Ter
NM_001363132.1:c.1792G>T	NP_001350061.1:p.Glu598Ter
NM_001363132.2:c.1792G>T	NP_001350061.1:p.Glu598Ter
NM_001363133.1:c.1711G>T	NP_001350062.1:p.Glu571Ter
NM_001363133.2:c.1711G>T	NP_001350062.1:p.Glu571Ter
NM_001364869.1:c.1900G>T	NP_001351798.1:p.Glu634Ter
NM_001364870.1:c.1720G>T	NP_001351799.1:p.Glu574Ter
NM_024790.6:c.1819G>T	NP_079066.5:p.Glu607Ter
ENST00000262210.11:c.1900G>T	ENSP00000262210.6:p.Glu634Ter
ENST00000262210.9:c.1819G>T	ENSP00000262210.5:p.Glu607Ter
ENST00000519163.6:c.*2085G>T	ENSP00000428694.1:n.*2085G>T
ENST00000519668.1:c.937G>T	ENSP00000430092.1:p.Glu313Ter
ENST00000674993.1:c.1924G>T	ENSP00000502454.1:p.Glu642Ter
ENST00000675306.2:c.1711G>T	ENSP00000502421.1:p.Glu571Ter
ENST00000675820.1:c.*1625G>T	ENSP00000501959.1:n.*1625G>T
ENST00000675869.1:c.1792G>T	ENSP00000502747.1:p.Glu598Ter
ENST00000675955.1:c.1753G>T	ENSP00000501676.1:p.Glu585Ter
ENST00000676113.1:c.1792G>T	ENSP00000501645.1:p.Glu598Ter
ENST00000676317.1:c.1819G>T	ENSP00000502047.1:p.Glu607Ter
ENST00000676471.1:c.1720G>T	ENSP00000503711.1:p.Glu574Ter
ENST00000676534.1:n.4760G>T
ENST00000676567.1:c.*611G>T	ENSP00000503427.1:n.*611G>T
ENST00000676573.1:c.1288G>T	ENSP00000504532.1:p.Glu430Ter
ENST00000676605.1:c.1942G>T	ENSP00000503605.1:p.Glu648Ter
ENST00000676656.1:n.127G>T
ENST00000676695.1:c.1660G>T	ENSP00000503292.1:n.1660G>T
ENST00000676697.1:n.2595G>T
ENST00000676804.1:c.137G>T
ENST00000676847.1:c.1813G>T	ENSP00000503336.1:p.Glu605Ter
ENST00000676858.1:c.1705G>T	ENSP00000502925.1:p.Glu569Ter
ENST00000676882.1:c.1720G>T	ENSP00000504342.1:p.Glu574Ter
ENST00000677009.1:c.1819G>T	ENSP00000503297.1:p.Glu607Ter
ENST00000677052.1:n.1332G>T
ENST00000677070.1:c.1501G>T	ENSP00000503014.1:p.Glu501Ter
ENST00000677256.1:c.*1553G>T	ENSP00000504102.1:n.*1553G>T
ENST00000677430.1:c.1753G>T	ENSP00000504177.1:p.Glu585Ter
ENST00000677455.1:n.1860G>T
ENST00000677473.1:c.1755+5382G>T	ENSP00000503534.1:n.1755+5382G>T
ENST00000677592.1:c.1801G>T	ENSP00000504516.1:p.Glu601Ter
ENST00000677619.1:c.1180G>T	ENSP00000504522.1:p.Glu394Ter
ENST00000677836.1:c.1424G>T	ENSP00000504345.1:n.1424G>T
ENST00000677845.1:c.*205G>T	ENSP00000503524.1:n.*205G>T
ENST00000677855.1:c.1408G>T	ENSP00000504757.1:p.Glu470Ter
ENST00000678017.1:c.838G>T	ENSP00000504394.1:p.Glu280Ter
ENST00000678138.1:n.2150G>T
ENST00000678156.1:n.1474G>T
ENST00000678216.1:n.1426G>T
ENST00000678318.1:c.1369G>T	ENSP00000503690.1:p.Glu457Ter
ENST00000678345.1:c.689G>T	ENSP00000503668.1:n.689G>T
ENST00000678362.1:c.*611G>T	ENSP00000504317.1:n.*611G>T
ENST00000678542.1:c.1942G>T	ENSP00000503878.1:p.Glu648Ter
ENST00000678553.1:c.1762G>T	ENSP00000503747.1:p.Glu588Ter
ENST00000678635.1:n.329G>T
ENST00000678645.1:c.1711G>T	ENSP00000504031.1:p.Glu571Ter
ENST00000678728.1:c.*611G>T	ENSP00000504830.1:n.*611G>T
ENST00000678747.1:c.1261G>T	ENSP00000503390.1:p.Glu421Ter
ENST00000678807.1:n.1010+5382G>T
ENST00000679042.1:n.2659G>T
ENST00000679112.1:c.*1733G>T	ENSP00000503739.1:n.*1733G>T
ENST00000679226.1:c.1711G>T	ENSP00000503601.1:p.Glu571Ter
ENST00000679274.1:n.758G>T
XM_005251305.3:c.2062G>T	XP_005251362.2:p.Glu688Ter
XM_005251305.4:c.2062G>T	XP_005251362.2:p.Glu688Ter
XM_006716474.2:c.2062G>T	XP_006716537.2:p.Glu688Ter
XM_006716474.3:c.2062G>T	XP_006716537.2:p.Glu688Ter
XM_006716477.2:c.1531G>T	XP_006716540.2:p.Glu511Ter
XM_006716477.3:c.1531G>T	XP_006716540.2:p.Glu511Ter
XM_011517598.1:c.2104G>T	XP_011515900.1:p.Glu702Ter
XM_011517598.2:c.2104G>T	XP_011515900.1:p.Glu702Ter
XM_011517599.1:c.2080G>T	XP_011515901.1:p.Glu694Ter
XM_011517599.2:c.2080G>T	XP_011515901.1:p.Glu694Ter
XM_011517600.1:c.2038G>T	XP_011515902.1:p.Glu680Ter
XM_011517600.2:c.2038G>T	XP_011515902.1:p.Glu680Ter
XM_011517601.1:c.1999G>T	XP_011515903.1:p.Glu667Ter
XM_011517601.2:c.1999G>T	XP_011515903.1:p.Glu667Ter
XM_011517602.1:c.1957G>T	XP_011515904.1:p.Glu653Ter
XM_011517602.2:c.1957G>T	XP_011515904.1:p.Glu653Ter
XM_011517603.1:c.1858G>T	XP_011515905.1:p.Glu620Ter
XM_011517603.2:c.1858G>T	XP_011515905.1:p.Glu620Ter
XM_011517604.1:c.1858G>T	XP_011515906.1:p.Glu620Ter
XM_011517605.1:c.1858G>T	XP_011515907.1:p.Glu620Ter
XM_011517606.1:c.1834G>T	XP_011515908.1:p.Glu612Ter
XM_011517607.1:c.1834G>T	XP_011515909.1:p.Glu612Ter
XM_011517607.2:c.1834G>T	XP_011515909.1:p.Glu612Ter
XM_011517608.1:c.1753G>T	XP_011515910.1:p.Glu585Ter
XM_011517609.1:c.979G>T	XP_011515911.1:p.Glu327Ter
XM_011517609.2:c.979G>T	XP_011515911.1:p.Glu327Ter
XM_011517610.1:c.499G>T	XP_011515912.1:p.Glu167Ter
XM_011517611.1:c.139G>T	XP_011515913.1:p.Glu47Ter
XM_011517611.3:c.139G>T	XP_011515913.1:p.Glu47Ter
XM_017013847.2:c.1963G>T	XP_016869336.1:p.Glu655Ter
XM_017013848.2:c.1939G>T	XP_016869337.1:p.Glu647Ter
XM_017013849.2:c.1900G>T	XP_016869338.1:p.Glu634Ter
XM_017013850.2:c.1858G>T	XP_016869339.1:p.Glu620Ter
XM_017013851.2:c.1711G>T	XP_016869340.1:p.Glu571Ter
XM_017013852.2:c.1858G>T	XP_016869341.1:p.Glu620Ter
XM_017013854.2:c.1507G>T	XP_016869343.1:p.Glu503Ter
XM_017013855.2:c.1426G>T	XP_016869344.1:p.Glu476Ter
XM_017013856.2:c.1180G>T	XP_016869345.1:p.Glu394Ter
XM_017013858.2:c.499G>T	XP_016869347.1:p.Glu167Ter
XM_024447278.1:c.1834G>T	XP_024303046.1:p.Glu612Ter
XM_024447279.1:c.1753G>T	XP_024303047.1:p.Glu585Ter
XM_024447281.1:c.1711G>T	XP_024303049.1:p.Glu571Ter
XM_024447282.1:c.1261G>T	XP_024303050.1:p.Glu421Ter
XM_024447283.1:c.937G>T	XP_024303051.1:p.Glu313Ter
XM_024447284.1:c.499G>T	XP_024303052.1:p.Glu167Ter