Canonical Allele Identifier: CA4348605

Gene: SGCE CASD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94598811T>C , CM000669.2:g.94598811T>C	GRCh38
NC_000007.13:g.94228123T>C , CM000669.1:g.94228123T>C	GRCh37
NC_000007.12:g.94066059T>C	NCBI36
NG_008893.1:g.62399A>G
NG_008893.2:g.62399A>G
NG_008893.3:g.62762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415788.3:c.1325A>G (SGCE)	ENSP00000405313.2:p.Tyr442Cys
ENST00000428696.7:c.1169A>G (SGCE)	ENSP00000397536.3:p.Tyr390Cys
ENST00000437425.7:c.1094A>G (SGCE)	ENSP00000394061.2:p.Tyr365Cys
ENST00000445866.7:c.1217A>G (SGCE)	ENSP00000398930.2:p.Tyr406Cys
ENST00000447873.6:c.1190A>G (SGCE)	ENSP00000388734.1:p.Tyr397Cys
ENST00000642291.1:c.1152A>G (SGCE)
ENST00000642353.1:n.1188A>G (SGCE)
ENST00000642394.1:c.1067A>G (SGCE)	ENSP00000493751.1:p.Tyr356Cys
ENST00000642441.1:c.1271A>G (SGCE)	ENSP00000495994.1:p.Tyr424Cys
ENST00000642497.1:n.1963A>G (SGCE)
ENST00000642564.1:n.1317A>G (SGCE)
ENST00000642638.1:c.*1255A>G (SGCE)	ENSP00000495555.1:n.*1255A>G
ENST00000642707.1:c.1298A>G (SGCE)	ENSP00000495270.1:p.Tyr433Cys
ENST00000642754.1:n.6089A>G (SGCE)
ENST00000642759.1:n.1279A>G (SGCE)
ENST00000642802.1:n.1012A>G (SGCE)
ENST00000642904.1:n.1278A>G (SGCE)
ENST00000642933.1:c.1190A>G (SGCE)	ENSP00000496237.1:p.Tyr397Cys
ENST00000643020.1:c.1143A>G (SGCE)
ENST00000643041.1:c.*178A>G (SGCE)	ENSP00000495311.1:n.*178A>G
ENST00000643128.1:c.1217A>G (SGCE)	ENSP00000496678.1:p.Tyr406Cys
ENST00000643160.1:c.448A>G (SGCE)
ENST00000643193.1:c.1190A>G (SGCE)	ENSP00000496559.1:p.Tyr397Cys
ENST00000643206.1:c.*798A>G (SGCE)	ENSP00000496172.1:n.*798A>G
ENST00000643272.1:c.1298A>G (SGCE)	ENSP00000494488.1:p.Tyr433Cys
ENST00000643324.1:n.2108A>G (SGCE)
ENST00000643491.1:n.1118A>G (SGCE)
ENST00000643568.1:c.871A>G (SGCE)
ENST00000643605.1:c.*1177A>G (SGCE)	ENSP00000496480.1:n.*1177A>G
ENST00000643610.1:c.1217A>G (SGCE)	ENSP00000494350.1:p.Tyr406Cys
ENST00000643714.1:n.1258A>G (SGCE)
ENST00000643903.1:c.1190A>G (SGCE)	ENSP00000495165.1:p.Tyr397Cys
ENST00000643991.1:c.1099A>G (SGCE)
ENST00000644087.1:c.*1267A>G (SGCE)	ENSP00000495249.1:n.*1267A>G
ENST00000644116.1:c.1190A>G (SGCE)	ENSP00000495276.1:p.Tyr397Cys
ENST00000644122.1:c.1298A>G (SGCE)	ENSP00000495236.1:p.Tyr433Cys
ENST00000644268.1:n.1810A>G (SGCE)
ENST00000644373.1:n.2226A>G (SGCE)
ENST00000644375.1:c.1256A>G (SGCE)	ENSP00000494315.1:p.Tyr419Cys
ENST00000644533.1:n.1972A>G (SGCE)
ENST00000644551.1:c.1298A>G (SGCE)	ENSP00000493981.1:p.Tyr433Cys
ENST00000644609.1:c.1190A>G (SGCE)	ENSP00000496045.1:p.Tyr397Cys
ENST00000644639.1:c.*851A>G (SGCE)	ENSP00000496391.1:n.*851A>G
ENST00000644658.1:c.569A>G (SGCE)
ENST00000644674.1:n.1118A>G (SGCE)
ENST00000644681.1:c.917A>G (SGCE)	ENSP00000496455.1:p.Tyr306Cys
ENST00000644682.1:c.1254A>G (SGCE)
ENST00000644816.1:c.1217A>G (SGCE)	ENSP00000494898.1:p.Tyr406Cys
ENST00000645101.1:c.1379A>G (SGCE)	ENSP00000494975.1:p.Tyr460Cys
ENST00000645109.1:c.1325A>G (SGCE)	ENSP00000495931.1:p.Tyr442Cys
ENST00000645262.1:c.1067A>G (SGCE)	ENSP00000494164.1:p.Tyr356Cys
ENST00000645445.1:c.1164A>G (SGCE)
ENST00000645535.1:c.917A>G (SGCE)	ENSP00000493984.1:p.Tyr306Cys
ENST00000645579.1:n.2110A>G (SGCE)
ENST00000645624.1:n.753A>G (SGCE)
ENST00000645665.1:n.436A>G (SGCE)
ENST00000645725.1:c.1271A>G (SGCE)	ENSP00000495480.1:p.Tyr424Cys
ENST00000645804.1:c.56+886A>G (SGCE)	ENSP00000494688.1:n.56+886A>G
ENST00000646098.1:c.1193A>G (SGCE)	ENSP00000495591.1:p.Tyr398Cys
ENST00000646119.1:c.1191A>G (SGCE)
ENST00000646137.1:c.1190A>G (SGCE)	ENSP00000495199.1:p.Tyr397Cys
ENST00000646265.1:c.1279A>G (SGCE)
ENST00000646301.1:c.1163A>G (SGCE)
ENST00000646434.1:c.1439A>G (SGCE)
ENST00000646466.1:c.*1120A>G (SGCE)	ENSP00000493511.1:n.*1120A>G
ENST00000646489.1:c.1325A>G (SGCE)	ENSP00000496268.1:p.Tyr442Cys
ENST00000646559.1:c.*1147A>G (SGCE)	ENSP00000495838.1:n.*1147A>G
ENST00000646600.1:c.*1120A>G (SGCE)	ENSP00000494041.1:n.*1120A>G
ENST00000646879.1:c.1190A>G (SGCE)	ENSP00000495209.1:p.Tyr397Cys
ENST00000646910.1:n.1250A>G (SGCE)
ENST00000646943.1:c.1217A>G (SGCE)	ENSP00000494666.1:p.Tyr406Cys
ENST00000647018.1:c.1325A>G (SGCE)	ENSP00000493722.1:p.Tyr442Cys
ENST00000647031.1:n.3804A>G (SGCE)
ENST00000647048.1:c.1014A>G (SGCE)
ENST00000647096.1:c.1325A>G (SGCE)	ENSP00000494192.1:p.Tyr442Cys
ENST00000647110.1:c.1196A>G (SGCE)	ENSP00000494738.1:p.Tyr399Cys
ENST00000647334.1:c.1296A>G (SGCE)
ENST00000647351.1:c.1298A>G (SGCE)	ENSP00000494556.1:p.Tyr433Cys
ENST00000647379.1:n.430A>G (SGCE)
ENST00000647533.1:n.2838A>G (SGCE)
ENST00000648936.2:c.1217A>G (SGCE) MANE Select	ENSP00000497130.1:p.Tyr406Cys
ENST00000265735.11:c.1217A>G (SGCE)	ENSP00000265735.6:p.Tyr406Cys
ENST00000415788.2:c.1325A>G (SGCE)	ENSP00000405313.2:p.Tyr442Cys
ENST00000428696.6:c.1190A>G (SGCE)	ENSP00000397536.2:p.Tyr397Cys
ENST00000437425.6:c.1094A>G (SGCE)	ENSP00000394061.2:p.Tyr365Cys
ENST00000445866.6:c.1217A>G (SGCE)	ENSP00000398930.2:p.Tyr406Cys
ENST00000447873.5:c.1190A>G (SGCE)	ENSP00000388734.1:p.Tyr397Cys
ENST00000472326.2:n.327A>G (SGCE)
ENST00000522045.5:c.122+886A>G (SGCE)	ENSP00000431080.1:n.122+886A>G
NM_001099400.1:c.1190A>G (SGCE)	NP_001092870.1:p.Tyr397Cys
NM_001099401.1:c.1217A>G (SGCE)	NP_001092871.1:p.Tyr406Cys
NM_001301139.1:c.1094A>G (SGCE)	NP_001288068.1:p.Tyr365Cys
NM_003919.2:c.1217A>G (SGCE)	NP_003910.1:p.Tyr406Cys
XM_005250675.3:c.1325A>G (SGCE)	XP_005250732.1:p.Tyr442Cys
XM_005250677.3:c.1298A>G (SGCE)	XP_005250734.1:p.Tyr433Cys
XM_011516495.1:c.2128-32505T>C (CASD1)	XP_011514797.1:n.2128-32505T>C
XM_011516663.1:c.1325A>G (SGCE)	XP_011514965.1:p.Tyr442Cys
XM_011516664.1:c.1298A>G (SGCE)	XP_011514966.1:p.Tyr433Cys
XM_011516665.1:c.1217A>G (SGCE)	XP_011514967.1:p.Tyr406Cys
XM_011516666.1:c.1190A>G (SGCE)	XP_011514968.1:p.Tyr397Cys
XM_011516667.1:c.1130A>G (SGCE)	XP_011514969.1:p.Tyr377Cys
XM_011516668.1:c.1094A>G (SGCE)	XP_011514970.1:p.Tyr365Cys
XM_011516669.1:c.944A>G (SGCE)	XP_011514971.1:p.Tyr315Cys
NM_001346713.1:c.1325A>G (SGCE)	NP_001333642.1:p.Tyr442Cys
NM_001346715.1:c.1298A>G (SGCE)	NP_001333644.1:p.Tyr433Cys
NM_001346717.1:c.1190A>G (SGCE)	NP_001333646.1:p.Tyr397Cys
NM_001346719.1:c.1130A>G (SGCE)	NP_001333648.1:p.Tyr377Cys
NM_001346720.1:c.944A>G (SGCE)	NP_001333649.1:p.Tyr315Cys
NM_001362807.1:c.1103A>G (SGCE)	NP_001349736.1:p.Tyr368Cys
NM_001362808.1:c.917A>G (SGCE)	NP_001349737.1:p.Tyr306Cys
NM_001362809.1:c.1067A>G (SGCE)	NP_001349738.1:p.Tyr356Cys
XM_011516495.2:c.2128-32505T>C (CASD1)	XP_011514797.1:n.2128-32505T>C
XM_011516663.2:c.1325A>G (SGCE)	XP_011514965.1:p.Tyr442Cys
XM_011516664.2:c.1298A>G (SGCE)	XP_011514966.1:p.Tyr433Cys
XM_011516665.3:c.1217A>G (SGCE)	XP_011514967.1:p.Tyr406Cys
XM_011516666.3:c.1190A>G (SGCE)	XP_011514968.1:p.Tyr397Cys
XM_011516667.2:c.1130A>G (SGCE)	XP_011514969.1:p.Tyr377Cys
XM_011516669.3:c.944A>G (SGCE)	XP_011514971.1:p.Tyr315Cys
XM_017012763.1:c.1130A>G (SGCE)	XP_016868252.1:p.Tyr377Cys
XM_017012767.1:c.917A>G (SGCE)	XP_016868256.1:p.Tyr306Cys
XM_024446985.1:c.1094A>G (SGCE)	XP_024302753.1:p.Tyr365Cys
XM_024446986.1:c.1067A>G (SGCE)	XP_024302754.1:p.Tyr356Cys
NM_001099400.2:c.1190A>G (SGCE)	NP_001092870.1:p.Tyr397Cys
NM_001099401.2:c.1217A>G (SGCE)	NP_001092871.1:p.Tyr406Cys
NM_001301139.2:c.1094A>G (SGCE)	NP_001288068.1:p.Tyr365Cys
NM_001346713.2:c.1325A>G (SGCE)	NP_001333642.1:p.Tyr442Cys
NM_001346715.2:c.1298A>G (SGCE)	NP_001333644.1:p.Tyr433Cys
NM_001346717.2:c.1190A>G (SGCE)	NP_001333646.1:p.Tyr397Cys
NM_001346719.2:c.1130A>G (SGCE)	NP_001333648.1:p.Tyr377Cys
NM_001346720.2:c.944A>G (SGCE)	NP_001333649.1:p.Tyr315Cys
NM_001362807.2:c.1103A>G (SGCE)	NP_001349736.1:p.Tyr368Cys
NM_001362808.2:c.917A>G (SGCE)	NP_001349737.1:p.Tyr306Cys
NM_001362809.2:c.1067A>G (SGCE)	NP_001349738.1:p.Tyr356Cys
NM_003919.3:c.1217A>G (SGCE) MANE Select	NP_003910.1:p.Tyr406Cys