Canonical Allele Identifier: CA371188386

Gene: CSPP1

Linked Data

• MyVariant Identifiers: chr8:g.68070701G>A (hg19) ; chr8:g.67158466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67158466G>A , CM000670.2:g.67158466G>A	GRCh38
NC_000008.10:g.68070701G>A , CM000670.1:g.68070701G>A	GRCh37
NC_000008.9:g.68233255G>A	NCBI36
NG_034100.1:g.99099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262210.11:c.2327G>A	ENSP00000262210.6:p.Arg776Lys
ENST00000521324.3:c.133G>A
ENST00000674993.1:c.2351G>A	ENSP00000502454.1:p.Arg784Lys
ENST00000675306.2:c.1985G>A	ENSP00000502421.1:p.Arg662Lys
ENST00000675869.1:c.2066G>A	ENSP00000502747.1:p.Arg689Lys
ENST00000675955.1:c.2180G>A	ENSP00000501676.1:p.Arg727Lys
ENST00000675990.1:n.3590G>A
ENST00000676113.1:c.2219G>A	ENSP00000501645.1:p.Arg740Lys
ENST00000676317.1:c.2246G>A	ENSP00000502047.1:p.Arg749Lys
ENST00000676471.1:c.1994G>A	ENSP00000503711.1:p.Arg665Lys
ENST00000676534.1:n.5187G>A
ENST00000676567.1:c.*885G>A	ENSP00000503427.1:n.*885G>A
ENST00000676573.1:c.1562G>A	ENSP00000504532.1:p.Arg521Lys
ENST00000676605.1:c.2369G>A	ENSP00000503605.1:p.Arg790Lys
ENST00000676695.1:c.2187G>A	ENSP00000503292.1:n.2187G>A
ENST00000676697.1:n.3122G>A
ENST00000676804.1:c.564G>A
ENST00000676847.1:c.2240G>A	ENSP00000503336.1:p.Arg747Lys
ENST00000676858.1:c.*222G>A	ENSP00000502925.1:n.*222G>A
ENST00000676882.1:c.2147G>A	ENSP00000504342.1:p.Arg716Lys
ENST00000676968.1:c.133G>A
ENST00000677009.1:c.2246G>A	ENSP00000503297.1:p.Arg749Lys
ENST00000677052.1:n.1759G>A
ENST00000677131.1:c.133G>A
ENST00000677256.1:c.*1980G>A	ENSP00000504102.1:n.*1980G>A
ENST00000677430.1:c.2180G>A	ENSP00000504177.1:p.Arg727Lys
ENST00000677455.1:n.2134G>A
ENST00000677473.1:c.*277G>A	ENSP00000503534.1:n.*277G>A
ENST00000677592.1:c.2228G>A	ENSP00000504516.1:p.Arg743Lys
ENST00000677619.1:c.1607G>A	ENSP00000504522.1:p.Arg536Lys
ENST00000677697.1:n.229G>A
ENST00000677845.1:c.*632G>A	ENSP00000503524.1:n.*632G>A
ENST00000677855.1:c.1569G>A	ENSP00000504757.1:n.1569G>A
ENST00000677964.1:c.133G>A
ENST00000678017.1:c.1112G>A	ENSP00000504394.1:p.Arg371Lys
ENST00000678138.1:n.2424G>A
ENST00000678156.1:n.1901G>A
ENST00000678318.1:c.1796G>A	ENSP00000503690.1:p.Arg599Lys
ENST00000678362.1:c.*1038G>A	ENSP00000504317.1:n.*1038G>A
ENST00000678542.1:c.2369G>A	ENSP00000503878.1:p.Arg790Lys
ENST00000678616.1:c.2261G>A MANE Select	ENSP00000504733.1:p.Arg754Lys
ENST00000678635.1:n.756G>A
ENST00000678645.1:c.2138G>A	ENSP00000504031.1:p.Arg713Lys
ENST00000678723.1:c.133G>A
ENST00000678747.1:c.1688G>A	ENSP00000503390.1:p.Arg563Lys
ENST00000678807.1:n.1296G>A
ENST00000678895.1:c.133G>A
ENST00000679042.1:n.3086G>A
ENST00000679112.1:c.*2160G>A	ENSP00000503739.1:n.*2160G>A
ENST00000679226.1:c.1985G>A	ENSP00000503601.1:p.Arg662Lys
ENST00000679274.1:n.1185G>A
ENST00000679295.1:n.1232G>A
ENST00000262210.9:c.2246G>A	ENSP00000262210.5:p.Arg749Lys
ENST00000519163.6:c.*2512G>A	ENSP00000428694.1:n.*2512G>A
ENST00000519668.1:c.1211G>A	ENSP00000430092.1:p.Arg404Lys
ENST00000521168.5:n.251G>A
NM_001291339.1:c.1211G>A	NP_001278268.1:p.Arg404Lys
NM_024790.6:c.2246G>A	NP_079066.5:p.Arg749Lys
XM_005251305.3:c.2489G>A	XP_005251362.2:p.Arg830Lys
XM_006716474.2:c.2336G>A	XP_006716537.2:p.Arg779Lys
XM_006716477.2:c.1958G>A	XP_006716540.2:p.Arg653Lys
XM_011517598.1:c.2531G>A	XP_011515900.1:p.Arg844Lys
XM_011517599.1:c.2507G>A	XP_011515901.1:p.Arg836Lys
XM_011517600.1:c.2465G>A	XP_011515902.1:p.Arg822Lys
XM_011517601.1:c.2426G>A	XP_011515903.1:p.Arg809Lys
XM_011517602.1:c.2384G>A	XP_011515904.1:p.Arg795Lys
XM_011517603.1:c.2285G>A	XP_011515905.1:p.Arg762Lys
XM_011517604.1:c.2285G>A	XP_011515906.1:p.Arg762Lys
XM_011517605.1:c.2285G>A	XP_011515907.1:p.Arg762Lys
XM_011517606.1:c.2261G>A	XP_011515908.1:p.Arg754Lys
XM_011517607.1:c.2261G>A	XP_011515909.1:p.Arg754Lys
XM_011517608.1:c.2180G>A	XP_011515910.1:p.Arg727Lys
XM_011517609.1:c.1406G>A	XP_011515911.1:p.Arg469Lys
XM_011517610.1:c.926G>A	XP_011515912.1:p.Arg309Lys
XM_011517611.1:c.566G>A	XP_011515913.1:p.Arg189Lys
NM_001363131.1:c.2180G>A	NP_001350060.1:p.Arg727Lys
NM_001363132.1:c.2066G>A	NP_001350061.1:p.Arg689Lys
NM_001363133.1:c.1985G>A	NP_001350062.1:p.Arg662Lys
NM_001364869.1:c.2327G>A	NP_001351798.1:p.Arg776Lys
NM_001364870.1:c.2147G>A	NP_001351799.1:p.Arg716Lys
XM_005251305.4:c.2489G>A	XP_005251362.2:p.Arg830Lys
XM_006716474.3:c.2336G>A	XP_006716537.2:p.Arg779Lys
XM_006716477.3:c.1958G>A	XP_006716540.2:p.Arg653Lys
XM_011517598.2:c.2531G>A	XP_011515900.1:p.Arg844Lys
XM_011517599.2:c.2507G>A	XP_011515901.1:p.Arg836Lys
XM_011517600.2:c.2465G>A	XP_011515902.1:p.Arg822Lys
XM_011517601.2:c.2426G>A	XP_011515903.1:p.Arg809Lys
XM_011517602.2:c.2384G>A	XP_011515904.1:p.Arg795Lys
XM_011517603.2:c.2285G>A	XP_011515905.1:p.Arg762Lys
XM_011517607.2:c.2261G>A	XP_011515909.1:p.Arg754Lys
XM_011517609.2:c.1406G>A	XP_011515911.1:p.Arg469Lys
XM_011517611.3:c.566G>A	XP_011515913.1:p.Arg189Lys
XM_017013847.2:c.2390G>A	XP_016869336.1:p.Arg797Lys
XM_017013848.2:c.2366G>A	XP_016869337.1:p.Arg789Lys
XM_017013849.2:c.2327G>A	XP_016869338.1:p.Arg776Lys
XM_017013850.2:c.2285G>A	XP_016869339.1:p.Arg762Lys
XM_017013851.2:c.2138G>A	XP_016869340.1:p.Arg713Lys
XM_017013852.2:c.2132G>A	XP_016869341.1:p.Arg711Lys
XM_017013854.2:c.1934G>A	XP_016869343.1:p.Arg645Lys
XM_017013855.2:c.1700G>A	XP_016869344.1:p.Arg567Lys
XM_017013856.2:c.1607G>A	XP_016869345.1:p.Arg536Lys
XM_017013858.2:c.773G>A	XP_016869347.1:p.Arg258Lys
XM_024447278.1:c.2261G>A	XP_024303046.1:p.Arg754Lys
XM_024447279.1:c.2180G>A	XP_024303047.1:p.Arg727Lys
XM_024447281.1:c.1985G>A	XP_024303049.1:p.Arg662Lys
XM_024447282.1:c.1688G>A	XP_024303050.1:p.Arg563Lys
XM_024447283.1:c.1364G>A	XP_024303051.1:p.Arg455Lys
XM_024447284.1:c.926G>A	XP_024303052.1:p.Arg309Lys
NM_001363131.2:c.2180G>A	NP_001350060.1:p.Arg727Lys
NM_001363132.2:c.2066G>A	NP_001350061.1:p.Arg689Lys
NM_001363133.2:c.1985G>A	NP_001350062.1:p.Arg662Lys
NM_001291339.2:c.1211G>A	NP_001278268.1:p.Arg404Lys
NM_001382391.1:c.2261G>A MANE Select	NP_001369320.1:p.Arg754Lys