Canonical Allele Identifier: CA4770854

Gene: CSPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67159121T>C , CM000670.2:g.67159121T>C	GRCh38
NC_000008.10:g.68071356T>C , CM000670.1:g.68071356T>C	GRCh37
NC_000008.9:g.68233910T>C	NCBI36
NG_034100.1:g.99754T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001382391.1:c.2522T>C MANE Select	NP_001369320.1:p.Ile841Thr
ENST00000678616.1:c.2522T>C MANE Select	ENSP00000504733.1:p.Ile841Thr
NM_001291339.1:c.1472T>C	NP_001278268.1:p.Ile491Thr
NM_001291339.2:c.1472T>C	NP_001278268.1:p.Ile491Thr
NM_001363131.1:c.2441T>C	NP_001350060.1:p.Ile814Thr
NM_001363131.2:c.2441T>C	NP_001350060.1:p.Ile814Thr
NM_001363132.1:c.2327T>C	NP_001350061.1:p.Ile776Thr
NM_001363132.2:c.2327T>C	NP_001350061.1:p.Ile776Thr
NM_001363133.1:c.2246T>C	NP_001350062.1:p.Ile749Thr
NM_001363133.2:c.2246T>C	NP_001350062.1:p.Ile749Thr
NM_001364869.1:c.2588T>C	NP_001351798.1:p.Ile863Thr
NM_001364870.1:c.2408T>C	NP_001351799.1:p.Ile803Thr
NM_024790.6:c.2507T>C	NP_079066.5:p.Ile836Thr
ENST00000262210.11:c.2588T>C	ENSP00000262210.6:p.Ile863Thr
ENST00000262210.9:c.2507T>C	ENSP00000262210.5:p.Ile836Thr
ENST00000519668.1:c.1472T>C	ENSP00000430092.1:p.Ile491Thr
ENST00000521168.5:n.512T>C
ENST00000521324.3:c.394T>C
ENST00000674993.1:c.2612T>C	ENSP00000502454.1:p.Ile871Thr
ENST00000675306.2:c.2246T>C	ENSP00000502421.1:p.Ile749Thr
ENST00000675869.1:c.2327T>C	ENSP00000502747.1:p.Ile776Thr
ENST00000675955.1:c.2441T>C	ENSP00000501676.1:p.Ile814Thr
ENST00000675990.1:n.3851T>C
ENST00000676113.1:c.2480T>C	ENSP00000501645.1:p.Ile827Thr
ENST00000676317.1:c.2507T>C	ENSP00000502047.1:p.Ile836Thr
ENST00000676471.1:c.2255T>C	ENSP00000503711.1:p.Ile752Thr
ENST00000676573.1:c.1823T>C	ENSP00000504532.1:p.Ile608Thr
ENST00000676605.1:c.2630T>C	ENSP00000503605.1:p.Ile877Thr
ENST00000676695.1:c.2448T>C	ENSP00000503292.1:n.2448T>C
ENST00000676804.1:c.825T>C
ENST00000676847.1:c.2501T>C	ENSP00000503336.1:p.Ile834Thr
ENST00000676858.1:c.*483T>C	ENSP00000502925.1:n.*483T>C
ENST00000676882.1:c.2408T>C	ENSP00000504342.1:p.Ile803Thr
ENST00000676968.1:c.394T>C
ENST00000677009.1:c.2507T>C	ENSP00000503297.1:p.Ile836Thr
ENST00000677052.1:n.2020T>C
ENST00000677131.1:c.394T>C
ENST00000677256.1:c.*2241T>C	ENSP00000504102.1:n.*2241T>C
ENST00000677430.1:c.*114T>C	ENSP00000504177.1:n.*114T>C
ENST00000677455.1:n.2395T>C
ENST00000677473.1:c.*538T>C	ENSP00000503534.1:n.*538T>C
ENST00000677592.1:c.2489T>C	ENSP00000504516.1:p.Ile830Thr
ENST00000677619.1:c.1868T>C	ENSP00000504522.1:p.Ile623Thr
ENST00000677697.1:n.485T>C
ENST00000677845.1:c.*893T>C	ENSP00000503524.1:n.*893T>C
ENST00000677855.1:c.1830T>C	ENSP00000504757.1:n.1830T>C
ENST00000677964.1:c.394T>C
ENST00000678017.1:c.1373T>C	ENSP00000504394.1:p.Ile458Thr
ENST00000678156.1:n.2162T>C
ENST00000678318.1:c.2057T>C	ENSP00000503690.1:p.Ile686Thr
ENST00000678542.1:c.2630T>C	ENSP00000503878.1:p.Ile877Thr
ENST00000678635.1:n.1017T>C
ENST00000678645.1:c.2399T>C	ENSP00000504031.1:p.Ile800Thr
ENST00000678723.1:c.394T>C
ENST00000678747.1:c.1949T>C	ENSP00000503390.1:p.Ile650Thr
ENST00000678895.1:c.394T>C
ENST00000679112.1:c.*2421T>C	ENSP00000503739.1:n.*2421T>C
ENST00000679226.1:c.2246T>C	ENSP00000503601.1:p.Ile749Thr
ENST00000679274.1:n.1446T>C
ENST00000679295.1:n.1493T>C
XM_005251305.3:c.2750T>C	XP_005251362.2:p.Ile917Thr
XM_005251305.4:c.2750T>C	XP_005251362.2:p.Ile917Thr
XM_006716474.2:c.2597T>C	XP_006716537.2:p.Ile866Thr
XM_006716474.3:c.2597T>C	XP_006716537.2:p.Ile866Thr
XM_006716477.2:c.2219T>C	XP_006716540.2:p.Ile740Thr
XM_006716477.3:c.2219T>C	XP_006716540.2:p.Ile740Thr
XM_011517598.1:c.2792T>C	XP_011515900.1:p.Ile931Thr
XM_011517598.2:c.2792T>C	XP_011515900.1:p.Ile931Thr
XM_011517599.1:c.2768T>C	XP_011515901.1:p.Ile923Thr
XM_011517599.2:c.2768T>C	XP_011515901.1:p.Ile923Thr
XM_011517600.1:c.2726T>C	XP_011515902.1:p.Ile909Thr
XM_011517600.2:c.2726T>C	XP_011515902.1:p.Ile909Thr
XM_011517601.1:c.2687T>C	XP_011515903.1:p.Ile896Thr
XM_011517601.2:c.2687T>C	XP_011515903.1:p.Ile896Thr
XM_011517602.1:c.2645T>C	XP_011515904.1:p.Ile882Thr
XM_011517602.2:c.2645T>C	XP_011515904.1:p.Ile882Thr
XM_011517603.1:c.2546T>C	XP_011515905.1:p.Ile849Thr
XM_011517603.2:c.2546T>C	XP_011515905.1:p.Ile849Thr
XM_011517604.1:c.2546T>C	XP_011515906.1:p.Ile849Thr
XM_011517605.1:c.2546T>C	XP_011515907.1:p.Ile849Thr
XM_011517606.1:c.2522T>C	XP_011515908.1:p.Ile841Thr
XM_011517607.1:c.2522T>C	XP_011515909.1:p.Ile841Thr
XM_011517607.2:c.2522T>C	XP_011515909.1:p.Ile841Thr
XM_011517608.1:c.2441T>C	XP_011515910.1:p.Ile814Thr
XM_011517609.1:c.1667T>C	XP_011515911.1:p.Ile556Thr
XM_011517609.2:c.1667T>C	XP_011515911.1:p.Ile556Thr
XM_011517610.1:c.1187T>C	XP_011515912.1:p.Ile396Thr
XM_011517611.1:c.827T>C	XP_011515913.1:p.Ile276Thr
XM_011517611.3:c.827T>C	XP_011515913.1:p.Ile276Thr
XM_017013847.2:c.2651T>C	XP_016869336.1:p.Ile884Thr
XM_017013848.2:c.2627T>C	XP_016869337.1:p.Ile876Thr
XM_017013849.2:c.2588T>C	XP_016869338.1:p.Ile863Thr
XM_017013850.2:c.2546T>C	XP_016869339.1:p.Ile849Thr
XM_017013851.2:c.2399T>C	XP_016869340.1:p.Ile800Thr
XM_017013852.2:c.2393T>C	XP_016869341.1:p.Ile798Thr
XM_017013854.2:c.2195T>C	XP_016869343.1:p.Ile732Thr
XM_017013855.2:c.1961T>C	XP_016869344.1:p.Ile654Thr
XM_017013856.2:c.1868T>C	XP_016869345.1:p.Ile623Thr
XM_017013858.2:c.1034T>C	XP_016869347.1:p.Ile345Thr
XM_024447278.1:c.2522T>C	XP_024303046.1:p.Ile841Thr
XM_024447279.1:c.2441T>C	XP_024303047.1:p.Ile814Thr
XM_024447281.1:c.2246T>C	XP_024303049.1:p.Ile749Thr
XM_024447282.1:c.1949T>C	XP_024303050.1:p.Ile650Thr
XM_024447283.1:c.1625T>C	XP_024303051.1:p.Ile542Thr
XM_024447284.1:c.1187T>C	XP_024303052.1:p.Ile396Thr