Canonical Allele Identifier: CA371194868
Community Standard Title: NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)
Gene: CSPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67172417A>T , CM000670.2:g.67172417A>T GRCh38
NC_000008.10:g.68084652A>T , CM000670.1:g.68084652A>T GRCh37
NC_000008.9:g.68247206A>T NCBI36
NG_034100.1:g.113050A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.2830A>T MANE Select NP_001369320.1:p.Lys944Ter
ENST00000678616.1:c.2830A>T MANE Select ENSP00000504733.1:p.Lys944Ter
NM_001291339.1:c.1780A>T NP_001278268.1:p.Lys594Ter
NM_001291339.2:c.1780A>T NP_001278268.1:p.Lys594Ter
NM_001363131.1:c.2749A>T NP_001350060.1:p.Lys917Ter
NM_001363131.2:c.2749A>T NP_001350060.1:p.Lys917Ter
NM_001363132.1:c.2635A>T NP_001350061.1:p.Lys879Ter
NM_001363132.2:c.2635A>T NP_001350061.1:p.Lys879Ter
NM_001363133.1:c.2554A>T NP_001350062.1:p.Lys852Ter
NM_001363133.2:c.2554A>T NP_001350062.1:p.Lys852Ter
NM_001364869.1:c.2896A>T NP_001351798.1:p.Lys966Ter
NM_001364870.1:c.2716A>T NP_001351799.1:p.Lys906Ter
NM_024790.6:c.2815A>T NP_079066.5:p.Lys939Ter
ENST00000262210.11:c.2896A>T ENSP00000262210.6:p.Lys966Ter
ENST00000262210.9:c.2815A>T ENSP00000262210.5:p.Lys939Ter
ENST00000519668.1:c.1780A>T ENSP00000430092.1:p.Lys594Ter
ENST00000521168.5:n.820A>T
ENST00000521324.3:c.702A>T
ENST00000674993.1:c.2920A>T ENSP00000502454.1:p.Lys974Ter
ENST00000675306.2:c.2554A>T ENSP00000502421.1:p.Lys852Ter
ENST00000675869.1:c.2635A>T ENSP00000502747.1:p.Lys879Ter
ENST00000675955.1:c.2749A>T ENSP00000501676.1:p.Lys917Ter
ENST00000675990.1:n.4159A>T
ENST00000676113.1:c.2788A>T ENSP00000501645.1:p.Lys930Ter
ENST00000676317.1:c.2815A>T ENSP00000502047.1:p.Lys939Ter
ENST00000676471.1:c.2563A>T ENSP00000503711.1:p.Lys855Ter
ENST00000676573.1:c.2131A>T ENSP00000504532.1:p.Lys711Ter
ENST00000676605.1:c.2938A>T ENSP00000503605.1:p.Lys980Ter
ENST00000676804.1:c.1133A>T
ENST00000676847.1:c.2809A>T ENSP00000503336.1:p.Lys937Ter
ENST00000676858.1:c.*791A>T ENSP00000502925.1:n.*791A>T
ENST00000676882.1:c.2716A>T ENSP00000504342.1:p.Lys906Ter
ENST00000676968.1:c.702A>T
ENST00000677009.1:c.2815A>T ENSP00000503297.1:p.Lys939Ter
ENST00000677052.1:n.2328A>T
ENST00000677131.1:c.702A>T
ENST00000677256.1:c.*2549A>T ENSP00000504102.1:n.*2549A>T
ENST00000677430.1:c.*422A>T ENSP00000504177.1:n.*422A>T
ENST00000677473.1:c.*846A>T ENSP00000503534.1:n.*846A>T
ENST00000677538.1:n.212A>T
ENST00000677592.1:c.2797A>T ENSP00000504516.1:p.Lys933Ter
ENST00000677619.1:c.2176A>T ENSP00000504522.1:p.Lys726Ter
ENST00000677697.1:n.793A>T
ENST00000677845.1:c.*1201A>T ENSP00000503524.1:n.*1201A>T
ENST00000677855.1:c.2138A>T ENSP00000504757.1:n.2138A>T
ENST00000677964.1:c.827A>T
ENST00000678017.1:c.1681A>T ENSP00000504394.1:p.Lys561Ter
ENST00000678318.1:c.2365A>T ENSP00000503690.1:p.Lys789Ter
ENST00000678542.1:c.2938A>T ENSP00000503878.1:p.Lys980Ter
ENST00000678635.1:n.1325A>T
ENST00000678645.1:c.2707A>T ENSP00000504031.1:p.Lys903Ter
ENST00000678723.1:c.702A>T
ENST00000678747.1:c.2257A>T ENSP00000503390.1:p.Lys753Ter
ENST00000678895.1:c.702A>T
ENST00000679112.1:c.*2729A>T ENSP00000503739.1:n.*2729A>T
ENST00000679226.1:c.2554A>T ENSP00000503601.1:p.Lys852Ter
ENST00000679274.1:n.1754A>T
ENST00000679295.1:n.1801A>T
XM_005251305.3:c.3058A>T XP_005251362.2:p.Lys1020Ter
XM_005251305.4:c.3058A>T XP_005251362.2:p.Lys1020Ter
XM_006716474.2:c.2905A>T XP_006716537.2:p.Lys969Ter
XM_006716474.3:c.2905A>T XP_006716537.2:p.Lys969Ter
XM_006716477.2:c.2527A>T XP_006716540.2:p.Lys843Ter
XM_006716477.3:c.2527A>T XP_006716540.2:p.Lys843Ter
XM_011517598.1:c.3100A>T XP_011515900.1:p.Lys1034Ter
XM_011517598.2:c.3100A>T XP_011515900.1:p.Lys1034Ter
XM_011517599.1:c.3076A>T XP_011515901.1:p.Lys1026Ter
XM_011517599.2:c.3076A>T XP_011515901.1:p.Lys1026Ter
XM_011517600.1:c.3034A>T XP_011515902.1:p.Lys1012Ter
XM_011517600.2:c.3034A>T XP_011515902.1:p.Lys1012Ter
XM_011517601.1:c.2995A>T XP_011515903.1:p.Lys999Ter
XM_011517601.2:c.2995A>T XP_011515903.1:p.Lys999Ter
XM_011517602.1:c.2953A>T XP_011515904.1:p.Lys985Ter
XM_011517602.2:c.2953A>T XP_011515904.1:p.Lys985Ter
XM_011517603.1:c.2854A>T XP_011515905.1:p.Lys952Ter
XM_011517603.2:c.2854A>T XP_011515905.1:p.Lys952Ter
XM_011517604.1:c.2854A>T XP_011515906.1:p.Lys952Ter
XM_011517605.1:c.2854A>T XP_011515907.1:p.Lys952Ter
XM_011517606.1:c.2830A>T XP_011515908.1:p.Lys944Ter
XM_011517607.1:c.2830A>T XP_011515909.1:p.Lys944Ter
XM_011517607.2:c.2830A>T XP_011515909.1:p.Lys944Ter
XM_011517608.1:c.2749A>T XP_011515910.1:p.Lys917Ter
XM_011517609.1:c.1975A>T XP_011515911.1:p.Lys659Ter
XM_011517609.2:c.1975A>T XP_011515911.1:p.Lys659Ter
XM_011517610.1:c.1495A>T XP_011515912.1:p.Lys499Ter
XM_011517611.1:c.1135A>T XP_011515913.1:p.Lys379Ter
XM_011517611.3:c.1135A>T XP_011515913.1:p.Lys379Ter
XM_017013847.2:c.2959A>T XP_016869336.1:p.Lys987Ter
XM_017013848.2:c.2935A>T XP_016869337.1:p.Lys979Ter
XM_017013849.2:c.2896A>T XP_016869338.1:p.Lys966Ter
XM_017013850.2:c.2854A>T XP_016869339.1:p.Lys952Ter
XM_017013851.2:c.2707A>T XP_016869340.1:p.Lys903Ter
XM_017013852.2:c.2701A>T XP_016869341.1:p.Lys901Ter
XM_017013854.2:c.2503A>T XP_016869343.1:p.Lys835Ter
XM_017013855.2:c.2269A>T XP_016869344.1:p.Lys757Ter
XM_017013856.2:c.2176A>T XP_016869345.1:p.Lys726Ter
XM_017013858.2:c.1342A>T XP_016869347.1:p.Lys448Ter
XM_024447278.1:c.2830A>T XP_024303046.1:p.Lys944Ter
XM_024447279.1:c.2749A>T XP_024303047.1:p.Lys917Ter
XM_024447281.1:c.2554A>T XP_024303049.1:p.Lys852Ter
XM_024447282.1:c.2257A>T XP_024303050.1:p.Lys753Ter
XM_024447283.1:c.1933A>T XP_024303051.1:p.Lys645Ter
XM_024447284.1:c.1495A>T XP_024303052.1:p.Lys499Ter