Canonical Allele Identifier: CA4770057
Community Standard Title: NM_001382391.1(CSPP1):c.-96C>G
Gene: CSPP1 HGNC NCBI
COPS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67064453C>G , CM000670.2:g.67064453C>G GRCh38
NC_000008.10:g.67976688C>G , CM000670.1:g.67976688C>G GRCh37
NC_000008.9:g.68139242C>G NCBI36
NG_034100.1:g.5086C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.-96C>G (CSPP1) MANE Select NP_001369320.1:n.-96C>G
ENST00000678616.1:c.-96C>G (CSPP1) MANE Select ENSP00000504733.1:n.-96C>G
NM_001363131.1:c.-96C>G (CSPP1) NP_001350060.1:n.-96C>G
NM_001363131.2:c.-96C>G (CSPP1) NP_001350060.1:n.-96C>G
NM_001363132.1:c.-96C>G (CSPP1) NP_001350061.1:n.-96C>G
NM_001363132.2:c.-96C>G (CSPP1) NP_001350061.1:n.-96C>G
NM_001363133.1:c.-96C>G (CSPP1) NP_001350062.1:n.-96C>G
NM_001363133.2:c.-96C>G (CSPP1) NP_001350062.1:n.-96C>G
NM_001364869.1:c.55C>G (CSPP1) NP_001351798.1:p.Leu19Val
NM_001364870.1:c.55C>G (CSPP1) NP_001351799.1:p.Leu19Val
NM_024790.6:c.55C>G (CSPP1) NP_079066.5:p.Leu19Val
ENST00000262210.11:c.55C>G (CSPP1) ENSP00000262210.6:p.Leu19Val
ENST00000262210.9:c.55C>G (CSPP1) ENSP00000262210.5:p.Leu19Val
ENST00000517736.5:c.-72G>C (COPS5) ENSP00000429774.1:n.-72G>C
ENST00000517793.1:n.186G>C (COPS5)
ENST00000518768.1:n.417-2273G>C (COPS5)
ENST00000519057.5:n.163-2194G>C (COPS5)
ENST00000519163.6:c.-54C>G (CSPP1) ENSP00000428694.1:n.-54C>G
ENST00000519701.5:c.-54C>G (CSPP1) ENSP00000428793.1:n.-54C>G
ENST00000519963.5:n.367-2194G>C (COPS5)
ENST00000521919.5:c.-11+1933C>G (CSPP1) ENSP00000429546.1:n.-11+1933C>G
ENST00000521919.6:c.-96C>G (CSPP1) ENSP00000429546.2:n.-96C>G
ENST00000674993.1:c.55C>G (CSPP1) ENSP00000502454.1:p.Leu19Val
ENST00000675306.2:c.-96C>G (CSPP1) ENSP00000502421.1:n.-96C>G
ENST00000675820.1:c.-54C>G (CSPP1) ENSP00000501959.1:n.-54C>G
ENST00000675869.1:c.-96C>G (CSPP1) ENSP00000502747.1:n.-96C>G
ENST00000675955.1:c.-96C>G (CSPP1) ENSP00000501676.1:n.-96C>G
ENST00000676113.1:c.-11+1933C>G (CSPP1) ENSP00000501645.1:n.-11+1933C>G
ENST00000676317.1:c.55C>G (CSPP1) ENSP00000502047.1:p.Leu19Val
ENST00000676471.1:c.55C>G (CSPP1) ENSP00000503711.1:p.Leu19Val
ENST00000676567.1:c.-54C>G (CSPP1) ENSP00000503427.1:n.-54C>G
ENST00000676573.1:c.55C>G (CSPP1) ENSP00000504532.1:p.Leu19Val
ENST00000676605.1:c.55C>G (CSPP1) ENSP00000503605.1:p.Leu19Val
ENST00000676847.1:c.55C>G (CSPP1) ENSP00000503336.1:p.Leu19Val
ENST00000676882.1:c.55C>G (CSPP1) ENSP00000504342.1:p.Leu19Val
ENST00000677009.1:c.55C>G (CSPP1) ENSP00000503297.1:p.Leu19Val
ENST00000677071.1:n.63C>G (CSPP1)
ENST00000677256.1:c.-96C>G (CSPP1) ENSP00000504102.1:n.-96C>G
ENST00000677430.1:c.-96C>G (CSPP1) ENSP00000504177.1:n.-96C>G
ENST00000677455.1:n.66C>G (CSPP1)
ENST00000677473.1:c.55C>G (CSPP1) ENSP00000503534.1:p.Leu19Val
ENST00000677592.1:c.55C>G (CSPP1) ENSP00000504516.1:p.Leu19Val
ENST00000677619.1:c.-96C>G (CSPP1) ENSP00000504522.1:n.-96C>G
ENST00000677845.1:c.-54C>G (CSPP1) ENSP00000503524.1:n.-54C>G
ENST00000678017.1:c.-619C>G (CSPP1) ENSP00000504394.1:n.-619C>G
ENST00000678156.1:n.118C>G (CSPP1)
ENST00000678204.1:c.55C>G (CSPP1) ENSP00000504782.1:p.Leu19Val
ENST00000678318.1:c.55C>G (CSPP1) ENSP00000503690.1:p.Leu19Val
ENST00000678362.1:c.-96C>G (CSPP1) ENSP00000504317.1:n.-96C>G
ENST00000678542.1:c.55C>G (CSPP1) ENSP00000503878.1:p.Leu19Val
ENST00000678553.1:c.55C>G (CSPP1) ENSP00000503747.1:p.Leu19Val
ENST00000678645.1:c.-96C>G (CSPP1) ENSP00000504031.1:n.-96C>G
ENST00000678728.1:c.55C>G (CSPP1) ENSP00000504830.1:p.Leu19Val
ENST00000678927.1:n.86C>G (CSPP1)
ENST00000679112.1:c.-54C>G (CSPP1) ENSP00000503739.1:n.-54C>G
ENST00000679226.1:c.-96C>G (CSPP1) ENSP00000503601.1:n.-96C>G
XM_005251305.3:c.193C>G (CSPP1) XP_005251362.2:p.Leu65Val
XM_005251305.4:c.193C>G (CSPP1) XP_005251362.2:p.Leu65Val
XM_006716474.2:c.193C>G (CSPP1) XP_006716537.2:p.Leu65Val
XM_006716474.3:c.193C>G (CSPP1) XP_006716537.2:p.Leu65Val
XM_006716477.2:c.193C>G (CSPP1) XP_006716540.2:p.Leu65Val
XM_006716477.3:c.193C>G (CSPP1) XP_006716540.2:p.Leu65Val
XM_011517598.1:c.193C>G (CSPP1) XP_011515900.1:p.Leu65Val
XM_011517598.2:c.193C>G (CSPP1) XP_011515900.1:p.Leu65Val
XM_011517599.1:c.193C>G (CSPP1) XP_011515901.1:p.Leu65Val
XM_011517599.2:c.193C>G (CSPP1) XP_011515901.1:p.Leu65Val
XM_011517600.1:c.193C>G (CSPP1) XP_011515902.1:p.Leu65Val
XM_011517600.2:c.193C>G (CSPP1) XP_011515902.1:p.Leu65Val
XM_011517601.1:c.193C>G (CSPP1) XP_011515903.1:p.Leu65Val
XM_011517601.2:c.193C>G (CSPP1) XP_011515903.1:p.Leu65Val
XM_011517602.1:c.193C>G (CSPP1) XP_011515904.1:p.Leu65Val
XM_011517602.2:c.193C>G (CSPP1) XP_011515904.1:p.Leu65Val
XM_011517603.1:c.-96C>G (CSPP1) XP_011515905.1:n.-96C>G
XM_011517603.2:c.-96C>G (CSPP1) XP_011515905.1:n.-96C>G
XM_011517604.1:c.-84C>G (CSPP1) XP_011515906.1:n.-84C>G
XM_011517606.1:c.-96C>G (CSPP1) XP_011515908.1:n.-96C>G
XM_011517607.1:c.-11+1933C>G (CSPP1) XP_011515909.1:n.-11+1933C>G
XM_011517607.2:c.-11+1933C>G (CSPP1) XP_011515909.1:n.-11+1933C>G
XM_011517608.1:c.-96C>G (CSPP1) XP_011515910.1:n.-96C>G
XM_017013847.2:c.193C>G (CSPP1) XP_016869336.1:p.Leu65Val
XM_017013848.2:c.193C>G (CSPP1) XP_016869337.1:p.Leu65Val
XM_017013849.2:c.193C>G (CSPP1) XP_016869338.1:p.Leu65Val
XM_017013850.2:c.193C>G (CSPP1) XP_016869339.1:p.Leu65Val
XM_017013851.2:c.-96C>G (CSPP1) XP_016869340.1:n.-96C>G
XM_017013852.2:c.193C>G (CSPP1) XP_016869341.1:p.Leu65Val
XM_017013854.2:c.193C>G (CSPP1) XP_016869343.1:p.Leu65Val
XM_017013855.2:c.193C>G (CSPP1) XP_016869344.1:p.Leu65Val
XM_017013856.2:c.-96C>G (CSPP1) XP_016869345.1:n.-96C>G
XM_017013858.2:c.-1177C>G (CSPP1) XP_016869347.1:n.-1177C>G
XM_024447278.1:c.-96C>G (CSPP1) XP_024303046.1:n.-96C>G
XM_024447279.1:c.-11+1933C>G (CSPP1) XP_024303047.1:n.-11+1933C>G
XM_024447281.1:c.-84C>G (CSPP1) XP_024303049.1:n.-84C>G
XM_024447282.1:c.-96C>G (CSPP1) XP_024303050.1:n.-96C>G
XM_024447283.1:c.-728C>G (CSPP1) XP_024303051.1:n.-728C>G
XM_024447284.1:c.-1318C>G (CSPP1) XP_024303052.1:n.-1318C>G
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