Canonical Allele Identifier: CA371212003
Community Standard Title: NM_001382391.1(CSPP1):c.100-2A>C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67076480A>C , CM000670.2:g.67076480A>C GRCh38
NC_000008.10:g.67988715A>C , CM000670.1:g.67988715A>C GRCh37
NC_000008.9:g.68151269A>C NCBI36
NG_034100.1:g.17113A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.100-2A>C (CSPP1) MANE Select NP_001369320.1:n.100-2A>C
ENST00000678616.1:c.100-2A>C (CSPP1) MANE Select ENSP00000504733.1:n.100-2A>C
NM_001363131.1:c.100-2A>C (CSPP1) NP_001350060.1:n.100-2A>C
NM_001363131.2:c.100-2A>C (CSPP1) NP_001350060.1:n.100-2A>C
NM_001363132.1:c.100-2A>C (CSPP1) NP_001350061.1:n.100-2A>C
NM_001363132.2:c.100-2A>C (CSPP1) NP_001350061.1:n.100-2A>C
NM_001363133.1:c.100-2A>C (CSPP1) NP_001350062.1:n.100-2A>C
NM_001363133.2:c.100-2A>C (CSPP1) NP_001350062.1:n.100-2A>C
NM_001364869.1:c.208-2A>C (CSPP1) NP_001351798.1:n.208-2A>C
NM_001364870.1:c.208-2A>C (CSPP1) NP_001351799.1:n.208-2A>C
NM_024790.6:c.208-2A>C (CSPP1) NP_079066.5:n.208-2A>C
ENST00000262210.11:c.208-2A>C (CSPP1) ENSP00000262210.6:n.208-2A>C
ENST00000262210.9:c.208-2A>C (CSPP1) ENSP00000262210.5:n.208-2A>C
ENST00000518768.1:n.312+4402T>G (COPS5)
ENST00000519057.5:n.58+7207T>G (COPS5)
ENST00000519163.6:c.100-2A>C (CSPP1) ENSP00000428694.1:n.100-2A>C
ENST00000519701.5:c.*17-2A>C (CSPP1) ENSP00000428793.1:n.*17-2A>C
ENST00000519963.5:n.262+4402T>G (COPS5)
ENST00000521919.5:c.100-2A>C (CSPP1) ENSP00000429546.1:n.100-2A>C
ENST00000521919.6:c.100-2A>C (CSPP1) ENSP00000429546.2:n.100-2A>C
ENST00000674993.1:c.208-2A>C (CSPP1) ENSP00000502454.1:n.208-2A>C
ENST00000675306.2:c.100-2A>C (CSPP1) ENSP00000502421.1:n.100-2A>C
ENST00000675820.1:c.100-2A>C (CSPP1) ENSP00000501959.1:n.100-2A>C
ENST00000675869.1:c.100-2A>C (CSPP1) ENSP00000502747.1:n.100-2A>C
ENST00000675955.1:c.100-2A>C (CSPP1) ENSP00000501676.1:n.100-2A>C
ENST00000676113.1:c.100-2A>C (CSPP1) ENSP00000501645.1:n.100-2A>C
ENST00000676317.1:c.208-2A>C (CSPP1) ENSP00000502047.1:n.208-2A>C
ENST00000676471.1:c.208-2A>C (CSPP1) ENSP00000503711.1:n.208-2A>C
ENST00000676567.1:c.100-2A>C (CSPP1) ENSP00000503427.1:n.100-2A>C
ENST00000676573.1:c.208-2A>C (CSPP1) ENSP00000504532.1:n.208-2A>C
ENST00000676605.1:c.331-2A>C (CSPP1) ENSP00000503605.1:n.331-2A>C
ENST00000676847.1:c.208-8A>C (CSPP1) ENSP00000503336.1:n.208-8A>C
ENST00000676858.1:c.100-2A>C (CSPP1) ENSP00000502925.1:n.100-2A>C
ENST00000676882.1:c.208-2A>C (CSPP1) ENSP00000504342.1:n.208-2A>C
ENST00000677009.1:c.208-2A>C (CSPP1) ENSP00000503297.1:n.208-2A>C
ENST00000677071.1:n.258-2A>C (CSPP1)
ENST00000677256.1:c.100-2A>C (CSPP1) ENSP00000504102.1:n.100-2A>C
ENST00000677430.1:c.100-2A>C (CSPP1) ENSP00000504177.1:n.100-2A>C
ENST00000677455.1:n.249-2A>C (CSPP1)
ENST00000677473.1:c.208-2A>C (CSPP1) ENSP00000503534.1:n.208-2A>C
ENST00000677592.1:c.208-2A>C (CSPP1) ENSP00000504516.1:n.208-2A>C
ENST00000677619.1:c.100-2A>C (CSPP1) ENSP00000504522.1:n.100-2A>C
ENST00000677845.1:c.100-2A>C (CSPP1) ENSP00000503524.1:n.100-2A>C
ENST00000678017.1:c.-575-9527A>C (CSPP1) ENSP00000504394.1:n.-575-9527A>C
ENST00000678156.1:n.313-2A>C (CSPP1)
ENST00000678204.1:c.207+2129A>C (CSPP1) ENSP00000504782.1:n.207+2129A>C
ENST00000678318.1:c.208-2A>C (CSPP1) ENSP00000503690.1:n.208-2A>C
ENST00000678362.1:c.100-2A>C (CSPP1) ENSP00000504317.1:n.100-2A>C
ENST00000678542.1:c.208-2A>C (CSPP1) ENSP00000503878.1:n.208-2A>C
ENST00000678553.1:c.208-2A>C (CSPP1) ENSP00000503747.1:n.208-2A>C
ENST00000678645.1:c.100-2A>C (CSPP1) ENSP00000504031.1:n.100-2A>C
ENST00000678728.1:c.208-2A>C (CSPP1) ENSP00000504830.1:n.208-2A>C
ENST00000678744.1:c.100-2A>C (CSPP1) ENSP00000503495.1:n.100-2A>C
ENST00000678747.1:c.100-2A>C (CSPP1) ENSP00000503390.1:n.100-2A>C
ENST00000678821.1:n.1413-2A>C (CSPP1)
ENST00000678927.1:n.281-2A>C (CSPP1)
ENST00000679112.1:c.*17-2A>C (CSPP1) ENSP00000503739.1:n.*17-2A>C
ENST00000679226.1:c.100-2A>C (CSPP1) ENSP00000503601.1:n.100-2A>C
XM_005251305.3:c.346-2A>C (CSPP1) XP_005251362.2:n.346-2A>C
XM_005251305.4:c.346-2A>C (CSPP1) XP_005251362.2:n.346-2A>C
XM_006716474.2:c.346-2A>C (CSPP1) XP_006716537.2:n.346-2A>C
XM_006716474.3:c.346-2A>C (CSPP1) XP_006716537.2:n.346-2A>C
XM_006716477.2:c.346-2A>C (CSPP1) XP_006716540.2:n.346-2A>C
XM_006716477.3:c.346-2A>C (CSPP1) XP_006716540.2:n.346-2A>C
XM_011517598.1:c.346-2A>C (CSPP1) XP_011515900.1:n.346-2A>C
XM_011517598.2:c.346-2A>C (CSPP1) XP_011515900.1:n.346-2A>C
XM_011517599.1:c.346-2A>C (CSPP1) XP_011515901.1:n.346-2A>C
XM_011517599.2:c.346-2A>C (CSPP1) XP_011515901.1:n.346-2A>C
XM_011517600.1:c.346-2A>C (CSPP1) XP_011515902.1:n.346-2A>C
XM_011517600.2:c.346-2A>C (CSPP1) XP_011515902.1:n.346-2A>C
XM_011517601.1:c.346-2A>C (CSPP1) XP_011515903.1:n.346-2A>C
XM_011517601.2:c.346-2A>C (CSPP1) XP_011515903.1:n.346-2A>C
XM_011517602.1:c.346-2A>C (CSPP1) XP_011515904.1:n.346-2A>C
XM_011517602.2:c.346-2A>C (CSPP1) XP_011515904.1:n.346-2A>C
XM_011517603.1:c.100-2A>C (CSPP1) XP_011515905.1:n.100-2A>C
XM_011517603.2:c.100-2A>C (CSPP1) XP_011515905.1:n.100-2A>C
XM_011517604.1:c.100-2A>C (CSPP1) XP_011515906.1:n.100-2A>C
XM_011517605.1:c.100-2A>C (CSPP1) XP_011515907.1:n.100-2A>C
XM_011517606.1:c.100-2A>C (CSPP1) XP_011515908.1:n.100-2A>C
XM_011517607.1:c.100-2A>C (CSPP1) XP_011515909.1:n.100-2A>C
XM_011517607.2:c.100-2A>C (CSPP1) XP_011515909.1:n.100-2A>C
XM_011517608.1:c.100-2A>C (CSPP1) XP_011515910.1:n.100-2A>C
XM_017013847.2:c.346-2A>C (CSPP1) XP_016869336.1:n.346-2A>C
XM_017013848.2:c.346-2A>C (CSPP1) XP_016869337.1:n.346-2A>C
XM_017013849.2:c.346-2A>C (CSPP1) XP_016869338.1:n.346-2A>C
XM_017013850.2:c.346-2A>C (CSPP1) XP_016869339.1:n.346-2A>C
XM_017013851.2:c.100-2A>C (CSPP1) XP_016869340.1:n.100-2A>C
XM_017013852.2:c.346-2A>C (CSPP1) XP_016869341.1:n.346-2A>C
XM_017013854.2:c.346-2A>C (CSPP1) XP_016869343.1:n.346-2A>C
XM_017013855.2:c.346-2A>C (CSPP1) XP_016869344.1:n.346-2A>C
XM_017013856.2:c.100-2A>C (CSPP1) XP_016869345.1:n.100-2A>C
XM_017013858.2:c.-1024-2A>C (CSPP1) XP_016869347.1:n.-1024-2A>C
XM_024447278.1:c.100-2A>C (CSPP1) XP_024303046.1:n.100-2A>C
XM_024447279.1:c.100-2A>C (CSPP1) XP_024303047.1:n.100-2A>C
XM_024447281.1:c.100-2A>C (CSPP1) XP_024303049.1:n.100-2A>C
XM_024447282.1:c.100-2A>C (CSPP1) XP_024303050.1:n.100-2A>C
XM_024447283.1:c.-576+2129A>C (CSPP1) XP_024303051.1:n.-576+2129A>C
XM_024447284.1:c.-1123-2A>C (CSPP1) XP_024303052.1:n.-1123-2A>C