Canonical Allele Identifier: CA368228277

Gene: SGCE CASD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94588715G>C , CM000669.2:g.94588715G>C	GRCh38
NC_000007.13:g.94218027G>C , CM000669.1:g.94218027G>C	GRCh37
NC_000007.12:g.94055963G>C	NCBI36
NG_008893.1:g.72495C>G
NG_008893.2:g.72495C>G
NG_008893.3:g.72858C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415788.3:c.1379C>G (SGCE)	ENSP00000405313.2:p.Thr460Ser
ENST00000428696.7:c.1223C>G (SGCE)	ENSP00000397536.3:p.Thr408Ser
ENST00000437425.7:c.1148C>G (SGCE)	ENSP00000394061.2:p.Thr383Ser
ENST00000445866.7:c.1346C>G (SGCE)	ENSP00000398930.2:p.Thr449Ser
ENST00000447873.6:c.1244C>G (SGCE)	ENSP00000388734.1:p.Thr415Ser
ENST00000642291.1:c.1206C>G (SGCE)
ENST00000642353.1:n.1498C>G (SGCE)
ENST00000642394.1:c.1121C>G (SGCE)	ENSP00000493751.1:p.Thr374Ser
ENST00000642441.1:c.1325C>G (SGCE)	ENSP00000495994.1:p.Thr442Ser
ENST00000642497.1:n.2017C>G (SGCE)
ENST00000642638.1:c.*1309C>G (SGCE)	ENSP00000495555.1:n.*1309C>G
ENST00000642707.1:c.1427C>G (SGCE)	ENSP00000495270.1:p.Thr476Ser
ENST00000642754.1:n.6126-3200C>G (SGCE)
ENST00000642759.1:n.1589C>G (SGCE)
ENST00000642802.1:n.1066C>G (SGCE)
ENST00000642904.1:n.1588C>G (SGCE)
ENST00000642933.1:c.1244C>G (SGCE)	ENSP00000496237.1:p.Thr415Ser
ENST00000643020.1:c.1197C>G (SGCE)
ENST00000643041.1:c.*232C>G (SGCE)	ENSP00000495311.1:n.*232C>G
ENST00000643160.1:c.502C>G (SGCE)
ENST00000643193.1:c.1244C>G (SGCE)	ENSP00000496559.1:p.Thr415Ser
ENST00000643206.1:c.*852C>G (SGCE)	ENSP00000496172.1:n.*852C>G
ENST00000643272.1:c.1352C>G (SGCE)	ENSP00000494488.1:p.Thr451Ser
ENST00000643324.1:n.2162C>G (SGCE)
ENST00000643491.1:n.1172C>G (SGCE)
ENST00000643568.1:c.1040C>G (SGCE)
ENST00000643605.1:c.*1231C>G (SGCE)	ENSP00000496480.1:n.*1231C>G
ENST00000643610.1:c.*72C>G (SGCE)	ENSP00000494350.1:n.*72C>G
ENST00000643714.1:n.1312C>G (SGCE)
ENST00000643991.1:c.1153C>G (SGCE)
ENST00000644087.1:c.*1321C>G (SGCE)	ENSP00000495249.1:n.*1321C>G
ENST00000644116.1:c.1319C>G (SGCE)	ENSP00000495276.1:p.Thr440Ser
ENST00000644122.1:c.1352C>G (SGCE)	ENSP00000495236.1:p.Thr451Ser
ENST00000644268.1:n.1864C>G (SGCE)
ENST00000644373.1:n.2280C>G (SGCE)
ENST00000644375.1:c.1310C>G (SGCE)	ENSP00000494315.1:p.Thr437Ser
ENST00000644533.1:n.2026C>G (SGCE)
ENST00000644551.1:c.1352C>G (SGCE)	ENSP00000493981.1:p.Thr451Ser
ENST00000644609.1:c.1244C>G (SGCE)	ENSP00000496045.1:p.Thr415Ser
ENST00000644639.1:c.*905C>G (SGCE)	ENSP00000496391.1:n.*905C>G
ENST00000644658.1:c.623C>G (SGCE)
ENST00000644674.1:n.1172C>G (SGCE)
ENST00000644681.1:c.971C>G (SGCE)	ENSP00000496455.1:p.Thr324Ser
ENST00000644682.1:c.1308C>G (SGCE)
ENST00000644816.1:c.1271C>G (SGCE)	ENSP00000494898.1:p.Thr424Ser
ENST00000645101.1:c.1433C>G (SGCE)	ENSP00000494975.1:p.Thr478Ser
ENST00000645262.1:c.1121C>G (SGCE)	ENSP00000494164.1:p.Thr374Ser
ENST00000645445.1:c.1218C>G (SGCE)
ENST00000645535.1:c.971C>G (SGCE)	ENSP00000493984.1:p.Thr324Ser
ENST00000645579.1:n.2164C>G (SGCE)
ENST00000645624.1:n.807C>G (SGCE)
ENST00000645665.1:n.490C>G (SGCE)
ENST00000645725.1:c.1325C>G (SGCE)	ENSP00000495480.1:p.Thr442Ser
ENST00000645767.1:n.1307C>G (SGCE)
ENST00000645804.1:c.74C>G (SGCE)	ENSP00000494688.1:p.Thr25Ser
ENST00000646098.1:c.1247C>G (SGCE)	ENSP00000495591.1:p.Thr416Ser
ENST00000646119.1:c.1245C>G (SGCE)
ENST00000646137.1:c.1244C>G (SGCE)	ENSP00000495199.1:p.Thr415Ser
ENST00000646265.1:c.1333C>G (SGCE)
ENST00000646301.1:c.1217C>G (SGCE)
ENST00000646434.1:c.1493C>G (SGCE)
ENST00000646466.1:c.*1249C>G (SGCE)	ENSP00000493511.1:n.*1249C>G
ENST00000646489.1:c.1379C>G (SGCE)	ENSP00000496268.1:p.Thr460Ser
ENST00000646559.1:c.*1201C>G (SGCE)	ENSP00000495838.1:n.*1201C>G
ENST00000646600.1:c.*1174C>G (SGCE)	ENSP00000494041.1:n.*1174C>G
ENST00000646879.1:c.1244C>G (SGCE)	ENSP00000495209.1:p.Thr415Ser
ENST00000646910.1:n.1304C>G (SGCE)
ENST00000646943.1:c.1346C>G (SGCE)	ENSP00000494666.1:p.Thr449Ser
ENST00000647018.1:c.1362-3200C>G (SGCE)	ENSP00000493722.1:n.1362-3200C>G
ENST00000647031.1:n.3841-3200C>G (SGCE)
ENST00000647048.1:c.1068C>G (SGCE)
ENST00000647096.1:c.1460C>G (SGCE)	ENSP00000494192.1:p.Thr487Ser
ENST00000647110.1:c.1250C>G (SGCE)	ENSP00000494738.1:p.Thr417Ser
ENST00000647334.1:c.1350C>G (SGCE)
ENST00000647351.1:c.1352C>G (SGCE)	ENSP00000494556.1:p.Thr451Ser
ENST00000647533.1:n.2892C>G (SGCE)
ENST00000648936.2:c.1271C>G (SGCE) MANE Select	ENSP00000497130.1:p.Thr424Ser
ENST00000265735.11:c.1271C>G (SGCE)	ENSP00000265735.6:p.Thr424Ser
ENST00000415788.2:c.1379C>G (SGCE)	ENSP00000405313.2:p.Thr460Ser
ENST00000428696.6:c.1244C>G (SGCE)	ENSP00000397536.2:p.Thr415Ser
ENST00000437425.6:c.1148C>G (SGCE)	ENSP00000394061.2:p.Thr383Ser
ENST00000445866.6:c.1346C>G (SGCE)	ENSP00000398930.2:p.Thr449Ser
ENST00000447873.5:c.1244C>G (SGCE)	ENSP00000388734.1:p.Thr415Ser
ENST00000472326.2:n.381C>G (SGCE)
ENST00000522045.5:c.123-3200C>G (SGCE)	ENSP00000431080.1:n.123-3200C>G
NM_001099400.1:c.1244C>G (SGCE)	NP_001092870.1:p.Thr415Ser
NM_001099401.1:c.1346C>G (SGCE)	NP_001092871.1:p.Thr449Ser
NM_001301139.1:c.1148C>G (SGCE)	NP_001288068.1:p.Thr383Ser
NM_003919.2:c.1271C>G (SGCE)	NP_003910.1:p.Thr424Ser
XM_005250675.3:c.1379C>G (SGCE)	XP_005250732.1:p.Thr460Ser
XM_005250677.3:c.1352C>G (SGCE)	XP_005250734.1:p.Thr451Ser
XM_011516495.1:c.2127+34140G>C (CASD1)	XP_011514797.1:n.2127+34140G>C
XM_011516663.1:c.1379C>G (SGCE)	XP_011514965.1:p.Thr460Ser
XM_011516664.1:c.1352C>G (SGCE)	XP_011514966.1:p.Thr451Ser
XM_011516665.1:c.1271C>G (SGCE)	XP_011514967.1:p.Thr424Ser
XM_011516666.1:c.1244C>G (SGCE)	XP_011514968.1:p.Thr415Ser
XM_011516667.1:c.1184C>G (SGCE)	XP_011514969.1:p.Thr395Ser
XM_011516668.1:c.1148C>G (SGCE)	XP_011514970.1:p.Thr383Ser
XM_011516669.1:c.998C>G (SGCE)	XP_011514971.1:p.Thr333Ser
NM_001346713.1:c.1379C>G (SGCE)	NP_001333642.1:p.Thr460Ser
NM_001346715.1:c.1352C>G (SGCE)	NP_001333644.1:p.Thr451Ser
NM_001346717.1:c.1244C>G (SGCE)	NP_001333646.1:p.Thr415Ser
NM_001346719.1:c.1184C>G (SGCE)	NP_001333648.1:p.Thr395Ser
NM_001346720.1:c.998C>G (SGCE)	NP_001333649.1:p.Thr333Ser
NM_001362807.1:c.1157C>G (SGCE)	NP_001349736.1:p.Thr386Ser
NM_001362808.1:c.971C>G (SGCE)	NP_001349737.1:p.Thr324Ser
NM_001362809.1:c.1121C>G (SGCE)	NP_001349738.1:p.Thr374Ser
XM_011516495.2:c.2127+34140G>C (CASD1)	XP_011514797.1:n.2127+34140G>C
XM_011516663.2:c.1379C>G (SGCE)	XP_011514965.1:p.Thr460Ser
XM_011516664.2:c.1352C>G (SGCE)	XP_011514966.1:p.Thr451Ser
XM_011516665.3:c.1271C>G (SGCE)	XP_011514967.1:p.Thr424Ser
XM_011516666.3:c.1244C>G (SGCE)	XP_011514968.1:p.Thr415Ser
XM_011516667.2:c.1184C>G (SGCE)	XP_011514969.1:p.Thr395Ser
XM_011516669.3:c.998C>G (SGCE)	XP_011514971.1:p.Thr333Ser
XM_017012763.1:c.1184C>G (SGCE)	XP_016868252.1:p.Thr395Ser
XM_017012767.1:c.971C>G (SGCE)	XP_016868256.1:p.Thr324Ser
XM_024446985.1:c.1148C>G (SGCE)	XP_024302753.1:p.Thr383Ser
XM_024446986.1:c.1121C>G (SGCE)	XP_024302754.1:p.Thr374Ser
NM_001099400.2:c.1244C>G (SGCE)	NP_001092870.1:p.Thr415Ser
NM_001099401.2:c.1346C>G (SGCE)	NP_001092871.1:p.Thr449Ser
NM_001301139.2:c.1148C>G (SGCE)	NP_001288068.1:p.Thr383Ser
NM_001346713.2:c.1379C>G (SGCE)	NP_001333642.1:p.Thr460Ser
NM_001346715.2:c.1352C>G (SGCE)	NP_001333644.1:p.Thr451Ser
NM_001346717.2:c.1244C>G (SGCE)	NP_001333646.1:p.Thr415Ser
NM_001346719.2:c.1184C>G (SGCE)	NP_001333648.1:p.Thr395Ser
NM_001346720.2:c.998C>G (SGCE)	NP_001333649.1:p.Thr333Ser
NM_001362807.2:c.1157C>G (SGCE)	NP_001349736.1:p.Thr386Ser
NM_001362808.2:c.971C>G (SGCE)	NP_001349737.1:p.Thr324Ser
NM_001362809.2:c.1121C>G (SGCE)	NP_001349738.1:p.Thr374Ser
NM_003919.3:c.1271C>G (SGCE) MANE Select	NP_003910.1:p.Thr424Ser