Canonical Allele Identifier: CA4770945

Gene: CSPP1

Linked Data

• ClinVar Variation Id: 2185558
• ClinVar RCV Id: RCV002596207
• dbSNP Id: rs537456518
• ExAC: 8:68076703 C / G
• gnomAD v2: 8-68076703-C-G
• gnomAD v4: 8-67164468-C-G
• MyVariant Identifiers: chr8:g.68076703C>G (hg19) ; chr8:g.67164468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67164468C>G , CM000670.2:g.67164468C>G	GRCh38
NC_000008.10:g.68076703C>G , CM000670.1:g.68076703C>G	GRCh37
NC_000008.9:g.68239257C>G	NCBI36
NG_034100.1:g.105101C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262210.11:c.2854C>G	ENSP00000262210.6:p.Arg952Gly
ENST00000521324.3:c.660C>G
ENST00000674993.1:c.2878C>G	ENSP00000502454.1:p.Arg960Gly
ENST00000675306.2:c.2512C>G	ENSP00000502421.1:p.Arg838Gly
ENST00000675869.1:c.2593C>G	ENSP00000502747.1:p.Arg865Gly
ENST00000675955.1:c.2707C>G	ENSP00000501676.1:p.Arg903Gly
ENST00000675990.1:n.4117C>G
ENST00000676113.1:c.2746C>G	ENSP00000501645.1:p.Arg916Gly
ENST00000676317.1:c.2773C>G	ENSP00000502047.1:p.Arg925Gly
ENST00000676471.1:c.2521C>G	ENSP00000503711.1:p.Arg841Gly
ENST00000676573.1:c.2089C>G	ENSP00000504532.1:p.Arg697Gly
ENST00000676605.1:c.2896C>G	ENSP00000503605.1:p.Arg966Gly
ENST00000676804.1:c.1091C>G
ENST00000676847.1:c.2767C>G	ENSP00000503336.1:p.Arg923Gly
ENST00000676858.1:c.*749C>G	ENSP00000502925.1:n.*749C>G
ENST00000676882.1:c.2674C>G	ENSP00000504342.1:p.Arg892Gly
ENST00000676968.1:c.660C>G
ENST00000677009.1:c.2773C>G	ENSP00000503297.1:p.Arg925Gly
ENST00000677052.1:n.2286C>G
ENST00000677131.1:c.660C>G
ENST00000677256.1:c.*2507C>G	ENSP00000504102.1:n.*2507C>G
ENST00000677430.1:c.*380C>G	ENSP00000504177.1:n.*380C>G
ENST00000677473.1:c.*804C>G	ENSP00000503534.1:n.*804C>G
ENST00000677592.1:c.2755C>G	ENSP00000504516.1:p.Arg919Gly
ENST00000677619.1:c.2134C>G	ENSP00000504522.1:p.Arg712Gly
ENST00000677697.1:n.751C>G
ENST00000677845.1:c.*1159C>G	ENSP00000503524.1:n.*1159C>G
ENST00000677855.1:c.2096C>G	ENSP00000504757.1:n.2096C>G
ENST00000677964.1:c.785C>G
ENST00000678017.1:c.1639C>G	ENSP00000504394.1:p.Arg547Gly
ENST00000678156.1:n.2428C>G
ENST00000678318.1:c.2323C>G	ENSP00000503690.1:p.Arg775Gly
ENST00000678542.1:c.2896C>G	ENSP00000503878.1:p.Arg966Gly
ENST00000678616.1:c.2788C>G MANE Select	ENSP00000504733.1:p.Arg930Gly
ENST00000678635.1:n.1283C>G
ENST00000678645.1:c.2665C>G	ENSP00000504031.1:p.Arg889Gly
ENST00000678723.1:c.660C>G
ENST00000678747.1:c.2215C>G	ENSP00000503390.1:p.Arg739Gly
ENST00000678895.1:c.660C>G
ENST00000679112.1:c.*2687C>G	ENSP00000503739.1:n.*2687C>G
ENST00000679226.1:c.2512C>G	ENSP00000503601.1:p.Arg838Gly
ENST00000679274.1:n.1712C>G
ENST00000679295.1:n.1759C>G
ENST00000262210.9:c.2773C>G	ENSP00000262210.5:p.Arg925Gly
ENST00000519668.1:c.1738C>G	ENSP00000430092.1:p.Arg580Gly
ENST00000521168.5:n.778C>G
NM_001291339.1:c.1738C>G	NP_001278268.1:p.Arg580Gly
NM_024790.6:c.2773C>G	NP_079066.5:p.Arg925Gly
XM_005251305.3:c.3016C>G	XP_005251362.2:p.Arg1006Gly
XM_006716474.2:c.2863C>G	XP_006716537.2:p.Arg955Gly
XM_006716477.2:c.2485C>G	XP_006716540.2:p.Arg829Gly
XM_011517598.1:c.3058C>G	XP_011515900.1:p.Arg1020Gly
XM_011517599.1:c.3034C>G	XP_011515901.1:p.Arg1012Gly
XM_011517600.1:c.2992C>G	XP_011515902.1:p.Arg998Gly
XM_011517601.1:c.2953C>G	XP_011515903.1:p.Arg985Gly
XM_011517602.1:c.2911C>G	XP_011515904.1:p.Arg971Gly
XM_011517603.1:c.2812C>G	XP_011515905.1:p.Arg938Gly
XM_011517604.1:c.2812C>G	XP_011515906.1:p.Arg938Gly
XM_011517605.1:c.2812C>G	XP_011515907.1:p.Arg938Gly
XM_011517606.1:c.2788C>G	XP_011515908.1:p.Arg930Gly
XM_011517607.1:c.2788C>G	XP_011515909.1:p.Arg930Gly
XM_011517608.1:c.2707C>G	XP_011515910.1:p.Arg903Gly
XM_011517609.1:c.1933C>G	XP_011515911.1:p.Arg645Gly
XM_011517610.1:c.1453C>G	XP_011515912.1:p.Arg485Gly
XM_011517611.1:c.1093C>G	XP_011515913.1:p.Arg365Gly
NM_001363131.1:c.2707C>G	NP_001350060.1:p.Arg903Gly
NM_001363132.1:c.2593C>G	NP_001350061.1:p.Arg865Gly
NM_001363133.1:c.2512C>G	NP_001350062.1:p.Arg838Gly
NM_001364869.1:c.2854C>G	NP_001351798.1:p.Arg952Gly
NM_001364870.1:c.2674C>G	NP_001351799.1:p.Arg892Gly
XM_005251305.4:c.3016C>G	XP_005251362.2:p.Arg1006Gly
XM_006716474.3:c.2863C>G	XP_006716537.2:p.Arg955Gly
XM_006716477.3:c.2485C>G	XP_006716540.2:p.Arg829Gly
XM_011517598.2:c.3058C>G	XP_011515900.1:p.Arg1020Gly
XM_011517599.2:c.3034C>G	XP_011515901.1:p.Arg1012Gly
XM_011517600.2:c.2992C>G	XP_011515902.1:p.Arg998Gly
XM_011517601.2:c.2953C>G	XP_011515903.1:p.Arg985Gly
XM_011517602.2:c.2911C>G	XP_011515904.1:p.Arg971Gly
XM_011517603.2:c.2812C>G	XP_011515905.1:p.Arg938Gly
XM_011517607.2:c.2788C>G	XP_011515909.1:p.Arg930Gly
XM_011517609.2:c.1933C>G	XP_011515911.1:p.Arg645Gly
XM_011517611.3:c.1093C>G	XP_011515913.1:p.Arg365Gly
XM_017013847.2:c.2917C>G	XP_016869336.1:p.Arg973Gly
XM_017013848.2:c.2893C>G	XP_016869337.1:p.Arg965Gly
XM_017013849.2:c.2854C>G	XP_016869338.1:p.Arg952Gly
XM_017013850.2:c.2812C>G	XP_016869339.1:p.Arg938Gly
XM_017013851.2:c.2665C>G	XP_016869340.1:p.Arg889Gly
XM_017013852.2:c.2659C>G	XP_016869341.1:p.Arg887Gly
XM_017013854.2:c.2461C>G	XP_016869343.1:p.Arg821Gly
XM_017013855.2:c.2227C>G	XP_016869344.1:p.Arg743Gly
XM_017013856.2:c.2134C>G	XP_016869345.1:p.Arg712Gly
XM_017013858.2:c.1300C>G	XP_016869347.1:p.Arg434Gly
XM_024447278.1:c.2788C>G	XP_024303046.1:p.Arg930Gly
XM_024447279.1:c.2707C>G	XP_024303047.1:p.Arg903Gly
XM_024447281.1:c.2512C>G	XP_024303049.1:p.Arg838Gly
XM_024447282.1:c.2215C>G	XP_024303050.1:p.Arg739Gly
XM_024447283.1:c.1891C>G	XP_024303051.1:p.Arg631Gly
XM_024447284.1:c.1453C>G	XP_024303052.1:p.Arg485Gly
NM_001363131.2:c.2707C>G	NP_001350060.1:p.Arg903Gly
NM_001363132.2:c.2593C>G	NP_001350061.1:p.Arg865Gly
NM_001363133.2:c.2512C>G	NP_001350062.1:p.Arg838Gly
NM_001291339.2:c.1738C>G	NP_001278268.1:p.Arg580Gly
NM_001382391.1:c.2788C>G MANE Select	NP_001369320.1:p.Arg930Gly