Canonical Allele Identifier: CA10606295

Gene: CSPP1

Linked Data

• ClinVar Variation Id: 289003
• ClinVar RCV Id: RCV000426028 ; RCV001859690
• dbSNP Id: rs886044058
• gnomAD v4: 8-67112031-G-T
• MyVariant Identifiers: chr8:g.68024266G>T (hg19) ; chr8:g.67112031G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67112031G>T , CM000670.2:g.67112031G>T	GRCh38
NC_000008.10:g.68024266G>T , CM000670.1:g.68024266G>T	GRCh37
NC_000008.9:g.68186820G>T	NCBI36
NG_034100.1:g.52664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262210.11:c.1261G>T	ENSP00000262210.6:p.Glu421Ter
ENST00000674993.1:c.1285G>T	ENSP00000502454.1:p.Glu429Ter
ENST00000675306.2:c.1072G>T	ENSP00000502421.1:p.Glu358Ter
ENST00000675820.1:c.*944G>T	ENSP00000501959.1:n.*944G>T
ENST00000675869.1:c.1153G>T	ENSP00000502747.1:p.Glu385Ter
ENST00000675955.1:c.1072G>T	ENSP00000501676.1:p.Glu358Ter
ENST00000676113.1:c.1153G>T	ENSP00000501645.1:p.Glu385Ter
ENST00000676317.1:c.1180G>T	ENSP00000502047.1:p.Glu394Ter
ENST00000676471.1:c.1081G>T	ENSP00000503711.1:p.Glu361Ter
ENST00000676534.1:n.4079G>T
ENST00000676567.1:c.973G>T	ENSP00000503427.1:p.Glu325Ter
ENST00000676573.1:c.951-6217G>T	ENSP00000504532.1:n.951-6217G>T
ENST00000676605.1:c.1303G>T	ENSP00000503605.1:p.Glu435Ter
ENST00000676695.1:c.769G>T	ENSP00000503292.1:p.Glu257Ter
ENST00000676697.1:n.1914G>T
ENST00000676847.1:c.1174G>T	ENSP00000503336.1:p.Glu392Ter
ENST00000676858.1:c.1066G>T	ENSP00000502925.1:p.Glu356Ter
ENST00000676882.1:c.1081G>T	ENSP00000504342.1:p.Glu361Ter
ENST00000677009.1:c.1180G>T	ENSP00000503297.1:p.Glu394Ter
ENST00000677052.1:n.683G>T
ENST00000677070.1:c.862G>T	ENSP00000503014.1:p.Glu288Ter
ENST00000677256.1:c.*914G>T	ENSP00000504102.1:n.*914G>T
ENST00000677430.1:c.1072G>T	ENSP00000504177.1:p.Glu358Ter
ENST00000677455.1:n.1221G>T
ENST00000677473.1:c.1081G>T	ENSP00000503534.1:p.Glu361Ter
ENST00000677592.1:c.1162G>T	ENSP00000504516.1:p.Glu388Ter
ENST00000677619.1:c.843-6217G>T	ENSP00000504522.1:n.843-6217G>T
ENST00000677836.1:c.769G>T	ENSP00000504345.1:p.Glu257Ter
ENST00000677845.1:c.843-6217G>T	ENSP00000503524.1:n.843-6217G>T
ENST00000677855.1:c.769G>T	ENSP00000504757.1:p.Glu257Ter
ENST00000678017.1:c.199G>T	ENSP00000504394.1:p.Glu67Ter
ENST00000678138.1:n.1439G>T
ENST00000678156.1:n.1137-6217G>T
ENST00000678204.1:c.*855G>T	ENSP00000504782.1:n.*855G>T
ENST00000678216.1:n.787G>T
ENST00000678318.1:c.1032-6217G>T	ENSP00000503690.1:n.1032-6217G>T
ENST00000678362.1:c.1072G>T	ENSP00000504317.1:p.Glu358Ter
ENST00000678444.1:c.769G>T	ENSP00000503879.1:p.Glu257Ter
ENST00000678542.1:c.1261G>T	ENSP00000503878.1:p.Glu421Ter
ENST00000678553.1:c.1081G>T	ENSP00000503747.1:p.Glu361Ter
ENST00000678616.1:c.1153G>T MANE Select	ENSP00000504733.1:p.Glu385Ter
ENST00000678645.1:c.1072G>T	ENSP00000504031.1:p.Glu358Ter
ENST00000678728.1:c.1180G>T	ENSP00000504830.1:p.Glu394Ter
ENST00000678744.1:c.*752G>T	ENSP00000503495.1:n.*752G>T
ENST00000678747.1:c.924-6217G>T	ENSP00000503390.1:n.924-6217G>T
ENST00000678807.1:n.378G>T
ENST00000678821.1:n.2466G>T
ENST00000679112.1:c.*1094G>T	ENSP00000503739.1:n.*1094G>T
ENST00000679226.1:c.1072G>T	ENSP00000503601.1:p.Glu358Ter
ENST00000262210.9:c.1180G>T	ENSP00000262210.5:p.Glu394Ter
ENST00000519163.6:c.1177G>T	ENSP00000428694.1:p.Glu393Ter
ENST00000519668.1:c.298G>T	ENSP00000430092.1:p.Glu100Ter
NM_001291339.1:c.298G>T	NP_001278268.1:p.Glu100Ter
NM_024790.6:c.1180G>T	NP_079066.5:p.Glu394Ter
XM_005251305.3:c.1423G>T	XP_005251362.2:p.Glu475Ter
XM_006716474.2:c.1423G>T	XP_006716537.2:p.Glu475Ter
XM_006716477.2:c.1194-6217G>T	XP_006716540.2:n.1194-6217G>T
XM_011517598.1:c.1423G>T	XP_011515900.1:p.Glu475Ter
XM_011517599.1:c.1399G>T	XP_011515901.1:p.Glu467Ter
XM_011517600.1:c.1399G>T	XP_011515902.1:p.Glu467Ter
XM_011517601.1:c.1318G>T	XP_011515903.1:p.Glu440Ter
XM_011517602.1:c.1318G>T	XP_011515904.1:p.Glu440Ter
XM_011517603.1:c.1177G>T	XP_011515905.1:p.Glu393Ter
XM_011517604.1:c.1177G>T	XP_011515906.1:p.Glu393Ter
XM_011517605.1:c.1177G>T	XP_011515907.1:p.Glu393Ter
XM_011517606.1:c.1153G>T	XP_011515908.1:p.Glu385Ter
XM_011517607.1:c.1153G>T	XP_011515909.1:p.Glu385Ter
XM_011517608.1:c.1072G>T	XP_011515910.1:p.Glu358Ter
XM_011517609.1:c.298G>T	XP_011515911.1:p.Glu100Ter
NM_001363131.1:c.1072G>T	NP_001350060.1:p.Glu358Ter
NM_001363132.1:c.1153G>T	NP_001350061.1:p.Glu385Ter
NM_001363133.1:c.1072G>T	NP_001350062.1:p.Glu358Ter
NM_001364869.1:c.1261G>T	NP_001351798.1:p.Glu421Ter
NM_001364870.1:c.1081G>T	NP_001351799.1:p.Glu361Ter
XM_005251305.4:c.1423G>T	XP_005251362.2:p.Glu475Ter
XM_006716474.3:c.1423G>T	XP_006716537.2:p.Glu475Ter
XM_006716477.3:c.1194-6217G>T	XP_006716540.2:n.1194-6217G>T
XM_011517598.2:c.1423G>T	XP_011515900.1:p.Glu475Ter
XM_011517599.2:c.1399G>T	XP_011515901.1:p.Glu467Ter
XM_011517600.2:c.1399G>T	XP_011515902.1:p.Glu467Ter
XM_011517601.2:c.1318G>T	XP_011515903.1:p.Glu440Ter
XM_011517602.2:c.1318G>T	XP_011515904.1:p.Glu440Ter
XM_011517603.2:c.1177G>T	XP_011515905.1:p.Glu393Ter
XM_011517607.2:c.1153G>T	XP_011515909.1:p.Glu385Ter
XM_011517609.2:c.298G>T	XP_011515911.1:p.Glu100Ter
XM_017013847.2:c.1324G>T	XP_016869336.1:p.Glu442Ter
XM_017013848.2:c.1300G>T	XP_016869337.1:p.Glu434Ter
XM_017013849.2:c.1219G>T	XP_016869338.1:p.Glu407Ter
XM_017013850.2:c.1219G>T	XP_016869339.1:p.Glu407Ter
XM_017013851.2:c.1072G>T	XP_016869340.1:p.Glu358Ter
XM_017013852.2:c.1219G>T	XP_016869341.1:p.Glu407Ter
XM_017013854.2:c.1170-6217G>T	XP_016869343.1:n.1170-6217G>T
XM_017013855.2:c.1089-6217G>T	XP_016869344.1:n.1089-6217G>T
XM_017013856.2:c.843-6217G>T	XP_016869345.1:n.843-6217G>T
XM_017013858.2:c.-151G>T	XP_016869347.1:n.-151G>T
XM_024447278.1:c.1153G>T	XP_024303046.1:p.Glu385Ter
XM_024447279.1:c.1072G>T	XP_024303047.1:p.Glu358Ter
XM_024447281.1:c.1072G>T	XP_024303049.1:p.Glu358Ter
XM_024447282.1:c.924-6217G>T	XP_024303050.1:n.924-6217G>T
XM_024447283.1:c.298G>T	XP_024303051.1:p.Glu100Ter
XM_024447284.1:c.-151G>T	XP_024303052.1:n.-151G>T
NM_001363131.2:c.1072G>T	NP_001350060.1:p.Glu358Ter
NM_001363132.2:c.1153G>T	NP_001350061.1:p.Glu385Ter
NM_001363133.2:c.1072G>T	NP_001350062.1:p.Glu358Ter
NM_001291339.2:c.298G>T	NP_001278268.1:p.Glu100Ter
NM_001382391.1:c.1153G>T MANE Select	NP_001369320.1:p.Glu385Ter