Canonical Allele Identifier: CA371190693

Gene: CSPP1

Linked Data

• dbSNP Id: rs193231165
• gnomAD v4: 8-67095441-G-C
• MyVariant Identifiers: chr8:g.68007676G>C (hg19) ; chr8:g.67095441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67095441G>C , CM000670.2:g.67095441G>C	GRCh38
NC_000008.10:g.68007676G>C , CM000670.1:g.68007676G>C	GRCh37
NC_000008.9:g.68170230G>C	NCBI36
NG_034100.1:g.36074G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262210.11:c.740G>C	ENSP00000262210.6:p.Arg247Pro
ENST00000674993.1:c.764G>C	ENSP00000502454.1:p.Arg255Pro
ENST00000675306.2:c.551G>C	ENSP00000502421.1:p.Arg184Pro
ENST00000675820.1:c.*423G>C	ENSP00000501959.1:n.*423G>C
ENST00000675869.1:c.632G>C	ENSP00000502747.1:p.Arg211Pro
ENST00000675955.1:c.551G>C	ENSP00000501676.1:p.Arg184Pro
ENST00000676113.1:c.632G>C	ENSP00000501645.1:p.Arg211Pro
ENST00000676317.1:c.659G>C	ENSP00000502047.1:p.Arg220Pro
ENST00000676471.1:c.659G>C	ENSP00000503711.1:p.Arg220Pro
ENST00000676567.1:c.551G>C	ENSP00000503427.1:p.Arg184Pro
ENST00000676573.1:c.659G>C	ENSP00000504532.1:p.Arg220Pro
ENST00000676605.1:c.782G>C	ENSP00000503605.1:p.Arg261Pro
ENST00000676695.1:c.248G>C	ENSP00000503292.1:p.Arg83Pro
ENST00000676697.1:n.1393G>C
ENST00000676847.1:c.653G>C	ENSP00000503336.1:p.Arg218Pro
ENST00000676858.1:c.551G>C	ENSP00000502925.1:p.Arg184Pro
ENST00000676882.1:c.659G>C	ENSP00000504342.1:p.Arg220Pro
ENST00000677009.1:c.659G>C	ENSP00000503297.1:p.Arg220Pro
ENST00000677070.1:c.248G>C	ENSP00000503014.1:p.Arg83Pro
ENST00000677256.1:c.*393G>C	ENSP00000504102.1:n.*393G>C
ENST00000677430.1:c.551G>C	ENSP00000504177.1:p.Arg184Pro
ENST00000677455.1:n.700G>C
ENST00000677473.1:c.560G>C	ENSP00000503534.1:p.Arg187Pro
ENST00000677592.1:c.740G>C	ENSP00000504516.1:p.Arg247Pro
ENST00000677619.1:c.551G>C	ENSP00000504522.1:p.Arg184Pro
ENST00000677836.1:c.248G>C	ENSP00000504345.1:p.Arg83Pro
ENST00000677845.1:c.551G>C	ENSP00000503524.1:p.Arg184Pro
ENST00000677855.1:c.248G>C	ENSP00000504757.1:p.Arg83Pro
ENST00000678017.1:c.-224G>C	ENSP00000504394.1:n.-224G>C
ENST00000678156.1:n.845G>C
ENST00000678204.1:c.*334G>C	ENSP00000504782.1:n.*334G>C
ENST00000678216.1:n.266G>C
ENST00000678318.1:c.740G>C	ENSP00000503690.1:p.Arg247Pro
ENST00000678362.1:c.551G>C	ENSP00000504317.1:p.Arg184Pro
ENST00000678444.1:c.248G>C	ENSP00000503879.1:p.Arg83Pro
ENST00000678542.1:c.740G>C	ENSP00000503878.1:p.Arg247Pro
ENST00000678553.1:c.659G>C	ENSP00000503747.1:p.Arg220Pro
ENST00000678616.1:c.632G>C MANE Select	ENSP00000504733.1:p.Arg211Pro
ENST00000678645.1:c.551G>C	ENSP00000504031.1:p.Arg184Pro
ENST00000678728.1:c.659G>C	ENSP00000504830.1:p.Arg220Pro
ENST00000678744.1:c.*231G>C	ENSP00000503495.1:n.*231G>C
ENST00000678747.1:c.632G>C	ENSP00000503390.1:p.Arg211Pro
ENST00000678821.1:n.1945G>C
ENST00000678927.1:n.813G>C
ENST00000679112.1:c.*573G>C	ENSP00000503739.1:n.*573G>C
ENST00000679226.1:c.551G>C	ENSP00000503601.1:p.Arg184Pro
ENST00000262210.9:c.659G>C	ENSP00000262210.5:p.Arg220Pro
ENST00000519163.6:c.656G>C	ENSP00000428694.1:p.Arg219Pro
ENST00000519668.1:c.-224G>C	ENSP00000430092.1:n.-224G>C
NM_001291339.1:c.-224G>C	NP_001278268.1:n.-224G>C
NM_024790.6:c.659G>C	NP_079066.5:p.Arg220Pro
XM_005251305.3:c.902G>C	XP_005251362.2:p.Arg301Pro
XM_006716474.2:c.902G>C	XP_006716537.2:p.Arg301Pro
XM_006716477.2:c.902G>C	XP_006716540.2:p.Arg301Pro
XM_011517598.1:c.902G>C	XP_011515900.1:p.Arg301Pro
XM_011517599.1:c.878G>C	XP_011515901.1:p.Arg293Pro
XM_011517600.1:c.878G>C	XP_011515902.1:p.Arg293Pro
XM_011517601.1:c.797G>C	XP_011515903.1:p.Arg266Pro
XM_011517602.1:c.797G>C	XP_011515904.1:p.Arg266Pro
XM_011517603.1:c.656G>C	XP_011515905.1:p.Arg219Pro
XM_011517604.1:c.656G>C	XP_011515906.1:p.Arg219Pro
XM_011517605.1:c.656G>C	XP_011515907.1:p.Arg219Pro
XM_011517606.1:c.632G>C	XP_011515908.1:p.Arg211Pro
XM_011517607.1:c.632G>C	XP_011515909.1:p.Arg211Pro
XM_011517608.1:c.551G>C	XP_011515910.1:p.Arg184Pro
XM_011517609.1:c.-224G>C	XP_011515911.1:n.-224G>C
NM_001363131.1:c.551G>C	NP_001350060.1:p.Arg184Pro
NM_001363132.1:c.632G>C	NP_001350061.1:p.Arg211Pro
NM_001363133.1:c.551G>C	NP_001350062.1:p.Arg184Pro
NM_001364869.1:c.740G>C	NP_001351798.1:p.Arg247Pro
NM_001364870.1:c.659G>C	NP_001351799.1:p.Arg220Pro
XM_005251305.4:c.902G>C	XP_005251362.2:p.Arg301Pro
XM_006716474.3:c.902G>C	XP_006716537.2:p.Arg301Pro
XM_006716477.3:c.902G>C	XP_006716540.2:p.Arg301Pro
XM_011517598.2:c.902G>C	XP_011515900.1:p.Arg301Pro
XM_011517599.2:c.878G>C	XP_011515901.1:p.Arg293Pro
XM_011517600.2:c.878G>C	XP_011515902.1:p.Arg293Pro
XM_011517601.2:c.797G>C	XP_011515903.1:p.Arg266Pro
XM_011517602.2:c.797G>C	XP_011515904.1:p.Arg266Pro
XM_011517603.2:c.656G>C	XP_011515905.1:p.Arg219Pro
XM_011517607.2:c.632G>C	XP_011515909.1:p.Arg211Pro
XM_011517609.2:c.-224G>C	XP_011515911.1:n.-224G>C
XM_017013847.2:c.902G>C	XP_016869336.1:p.Arg301Pro
XM_017013848.2:c.878G>C	XP_016869337.1:p.Arg293Pro
XM_017013849.2:c.797G>C	XP_016869338.1:p.Arg266Pro
XM_017013850.2:c.797G>C	XP_016869339.1:p.Arg266Pro
XM_017013851.2:c.551G>C	XP_016869340.1:p.Arg184Pro
XM_017013852.2:c.797G>C	XP_016869341.1:p.Arg266Pro
XM_017013854.2:c.878G>C	XP_016869343.1:p.Arg293Pro
XM_017013855.2:c.797G>C	XP_016869344.1:p.Arg266Pro
XM_017013856.2:c.551G>C	XP_016869345.1:p.Arg184Pro
XM_017013858.2:c.-573G>C	XP_016869347.1:n.-573G>C
XM_024447278.1:c.632G>C	XP_024303046.1:p.Arg211Pro
XM_024447279.1:c.551G>C	XP_024303047.1:p.Arg184Pro
XM_024447281.1:c.551G>C	XP_024303049.1:p.Arg184Pro
XM_024447282.1:c.632G>C	XP_024303050.1:p.Arg211Pro
XM_024447283.1:c.-224G>C	XP_024303051.1:n.-224G>C
XM_024447284.1:c.-672G>C	XP_024303052.1:n.-672G>C
NM_001363131.2:c.551G>C	NP_001350060.1:p.Arg184Pro
NM_001363132.2:c.632G>C	NP_001350061.1:p.Arg211Pro
NM_001363133.2:c.551G>C	NP_001350062.1:p.Arg184Pro
NM_001291339.2:c.-224G>C	NP_001278268.1:n.-224G>C
NM_001382391.1:c.632G>C MANE Select	NP_001369320.1:p.Arg211Pro