Canonical Allele Identifier: CA461295965

Gene: CSPP1

Linked Data

• dbSNP Id: rs1827092269
• gnomAD v2: 8-68070699-A-G
• gnomAD v4: 8-67158464-A-G
• MyVariant Identifiers: chr8:g.68070699A>G (hg19) ; chr8:g.68070699_68070701delinsGAG (hg19) ; chr8:g.67158464_67158466delinsGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67158464A>G , CM000670.2:g.67158464A>G	GRCh38
NC_000008.10:g.68070699A>G , CM000670.1:g.68070699A>G	GRCh37
NC_000008.9:g.68233253A>G	NCBI36
NG_034100.1:g.99097A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262210.11:c.2325A>G	ENSP00000262210.6:p.Gln775=
ENST00000521324.3:c.131A>G
ENST00000674993.1:c.2349A>G	ENSP00000502454.1:p.Gln783=
ENST00000675306.2:c.1983A>G	ENSP00000502421.1:p.Gln661=
ENST00000675869.1:c.2064A>G	ENSP00000502747.1:p.Gln688=
ENST00000675955.1:c.2178A>G	ENSP00000501676.1:p.Gln726=
ENST00000675990.1:n.3588A>G
ENST00000676113.1:c.2217A>G	ENSP00000501645.1:p.Gln739=
ENST00000676317.1:c.2244A>G	ENSP00000502047.1:p.Gln748=
ENST00000676471.1:c.1992A>G	ENSP00000503711.1:p.Gln664=
ENST00000676534.1:n.5185A>G
ENST00000676567.1:c.*883A>G	ENSP00000503427.1:n.*883A>G
ENST00000676573.1:c.1560A>G	ENSP00000504532.1:p.Gln520=
ENST00000676605.1:c.2367A>G	ENSP00000503605.1:p.Gln789=
ENST00000676695.1:c.2185A>G	ENSP00000503292.1:n.2185A>G
ENST00000676697.1:n.3120A>G
ENST00000676804.1:c.562A>G
ENST00000676847.1:c.2238A>G	ENSP00000503336.1:p.Gln746=
ENST00000676858.1:c.*220A>G	ENSP00000502925.1:n.*220A>G
ENST00000676882.1:c.2145A>G	ENSP00000504342.1:p.Gln715=
ENST00000676968.1:c.131A>G
ENST00000677009.1:c.2244A>G	ENSP00000503297.1:p.Gln748=
ENST00000677052.1:n.1757A>G
ENST00000677131.1:c.131A>G
ENST00000677256.1:c.*1978A>G	ENSP00000504102.1:n.*1978A>G
ENST00000677430.1:c.2178A>G	ENSP00000504177.1:p.Gln726=
ENST00000677455.1:n.2132A>G
ENST00000677473.1:c.*275A>G	ENSP00000503534.1:n.*275A>G
ENST00000677592.1:c.2226A>G	ENSP00000504516.1:p.Gln742=
ENST00000677619.1:c.1605A>G	ENSP00000504522.1:p.Gln535=
ENST00000677697.1:n.227A>G
ENST00000677845.1:c.*630A>G	ENSP00000503524.1:n.*630A>G
ENST00000677855.1:c.1567A>G	ENSP00000504757.1:n.1567A>G
ENST00000677964.1:c.131A>G
ENST00000678017.1:c.1110A>G	ENSP00000504394.1:p.Gln370=
ENST00000678138.1:n.2422A>G
ENST00000678156.1:n.1899A>G
ENST00000678318.1:c.1794A>G	ENSP00000503690.1:p.Gln598=
ENST00000678362.1:c.*1036A>G	ENSP00000504317.1:n.*1036A>G
ENST00000678542.1:c.2367A>G	ENSP00000503878.1:p.Gln789=
ENST00000678616.1:c.2259A>G MANE Select	ENSP00000504733.1:p.Gln753=
ENST00000678635.1:n.754A>G
ENST00000678645.1:c.2136A>G	ENSP00000504031.1:p.Gln712=
ENST00000678723.1:c.131A>G
ENST00000678747.1:c.1686A>G	ENSP00000503390.1:p.Gln562=
ENST00000678807.1:n.1294A>G
ENST00000678895.1:c.131A>G
ENST00000679042.1:n.3084A>G
ENST00000679112.1:c.*2158A>G	ENSP00000503739.1:n.*2158A>G
ENST00000679226.1:c.1983A>G	ENSP00000503601.1:p.Gln661=
ENST00000679274.1:n.1183A>G
ENST00000679295.1:n.1230A>G
ENST00000262210.9:c.2244A>G	ENSP00000262210.5:p.Gln748=
ENST00000519163.6:c.*2510A>G	ENSP00000428694.1:n.*2510A>G
ENST00000519668.1:c.1209A>G	ENSP00000430092.1:p.Gln403=
ENST00000521168.5:n.249A>G
NM_001291339.1:c.1209A>G	NP_001278268.1:p.Gln403=
NM_024790.6:c.2244A>G	NP_079066.5:p.Gln748=
XM_005251305.3:c.2487A>G	XP_005251362.2:p.Gln829=
XM_006716474.2:c.2334A>G	XP_006716537.2:p.Gln778=
XM_006716477.2:c.1956A>G	XP_006716540.2:p.Gln652=
XM_011517598.1:c.2529A>G	XP_011515900.1:p.Gln843=
XM_011517599.1:c.2505A>G	XP_011515901.1:p.Gln835=
XM_011517600.1:c.2463A>G	XP_011515902.1:p.Gln821=
XM_011517601.1:c.2424A>G	XP_011515903.1:p.Gln808=
XM_011517602.1:c.2382A>G	XP_011515904.1:p.Gln794=
XM_011517603.1:c.2283A>G	XP_011515905.1:p.Gln761=
XM_011517604.1:c.2283A>G	XP_011515906.1:p.Gln761=
XM_011517605.1:c.2283A>G	XP_011515907.1:p.Gln761=
XM_011517606.1:c.2259A>G	XP_011515908.1:p.Gln753=
XM_011517607.1:c.2259A>G	XP_011515909.1:p.Gln753=
XM_011517608.1:c.2178A>G	XP_011515910.1:p.Gln726=
XM_011517609.1:c.1404A>G	XP_011515911.1:p.Gln468=
XM_011517610.1:c.924A>G	XP_011515912.1:p.Gln308=
XM_011517611.1:c.564A>G	XP_011515913.1:p.Gln188=
NM_001363131.1:c.2178A>G	NP_001350060.1:p.Gln726=
NM_001363132.1:c.2064A>G	NP_001350061.1:p.Gln688=
NM_001363133.1:c.1983A>G	NP_001350062.1:p.Gln661=
NM_001364869.1:c.2325A>G	NP_001351798.1:p.Gln775=
NM_001364870.1:c.2145A>G	NP_001351799.1:p.Gln715=
XM_005251305.4:c.2487A>G	XP_005251362.2:p.Gln829=
XM_006716474.3:c.2334A>G	XP_006716537.2:p.Gln778=
XM_006716477.3:c.1956A>G	XP_006716540.2:p.Gln652=
XM_011517598.2:c.2529A>G	XP_011515900.1:p.Gln843=
XM_011517599.2:c.2505A>G	XP_011515901.1:p.Gln835=
XM_011517600.2:c.2463A>G	XP_011515902.1:p.Gln821=
XM_011517601.2:c.2424A>G	XP_011515903.1:p.Gln808=
XM_011517602.2:c.2382A>G	XP_011515904.1:p.Gln794=
XM_011517603.2:c.2283A>G	XP_011515905.1:p.Gln761=
XM_011517607.2:c.2259A>G	XP_011515909.1:p.Gln753=
XM_011517609.2:c.1404A>G	XP_011515911.1:p.Gln468=
XM_011517611.3:c.564A>G	XP_011515913.1:p.Gln188=
XM_017013847.2:c.2388A>G	XP_016869336.1:p.Gln796=
XM_017013848.2:c.2364A>G	XP_016869337.1:p.Gln788=
XM_017013849.2:c.2325A>G	XP_016869338.1:p.Gln775=
XM_017013850.2:c.2283A>G	XP_016869339.1:p.Gln761=
XM_017013851.2:c.2136A>G	XP_016869340.1:p.Gln712=
XM_017013852.2:c.2130A>G	XP_016869341.1:p.Gln710=
XM_017013854.2:c.1932A>G	XP_016869343.1:p.Gln644=
XM_017013855.2:c.1698A>G	XP_016869344.1:p.Gln566=
XM_017013856.2:c.1605A>G	XP_016869345.1:p.Gln535=
XM_017013858.2:c.771A>G	XP_016869347.1:p.Gln257=
XM_024447278.1:c.2259A>G	XP_024303046.1:p.Gln753=
XM_024447279.1:c.2178A>G	XP_024303047.1:p.Gln726=
XM_024447281.1:c.1983A>G	XP_024303049.1:p.Gln661=
XM_024447282.1:c.1686A>G	XP_024303050.1:p.Gln562=
XM_024447283.1:c.1362A>G	XP_024303051.1:p.Gln454=
XM_024447284.1:c.924A>G	XP_024303052.1:p.Gln308=
NM_001363131.2:c.2178A>G	NP_001350060.1:p.Gln726=
NM_001363132.2:c.2064A>G	NP_001350061.1:p.Gln688=
NM_001363133.2:c.1983A>G	NP_001350062.1:p.Gln661=
NM_001291339.2:c.1209A>G	NP_001278268.1:p.Gln403=
NM_001382391.1:c.2259A>G MANE Select	NP_001369320.1:p.Gln753=