Canonical Allele Identifier: CA456491739
Community Standard Title: NM_003919.3(SGCE):c.1245A>G (p.Gln415=)
Gene: SGCE HGNC NCBI
CASD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94598783T>C , CM000669.2:g.94598783T>C GRCh38
NC_000007.13:g.94228095T>C , CM000669.1:g.94228095T>C GRCh37
NC_000007.12:g.94066031T>C NCBI36
NG_008893.1:g.62427A>G
NG_008893.2:g.62427A>G
NG_008893.3:g.62790A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003919.3:c.1245A>G (SGCE) MANE Select NP_003910.1:p.Gln415=
ENST00000648936.2:c.1245A>G (SGCE) MANE Select ENSP00000497130.1:p.Gln415=
NM_001099400.1:c.1218A>G (SGCE) NP_001092870.1:p.Gln406=
NM_001099400.2:c.1218A>G (SGCE) NP_001092870.1:p.Gln406=
NM_001099401.1:c.1245A>G (SGCE) NP_001092871.1:p.Gln415=
NM_001099401.2:c.1245A>G (SGCE) NP_001092871.1:p.Gln415=
NM_001301139.1:c.1122A>G (SGCE) NP_001288068.1:p.Gln374=
NM_001301139.2:c.1122A>G (SGCE) NP_001288068.1:p.Gln374=
NM_001346713.1:c.1353A>G (SGCE) NP_001333642.1:p.Gln451=
NM_001346713.2:c.1353A>G (SGCE) NP_001333642.1:p.Gln451=
NM_001346715.1:c.1326A>G (SGCE) NP_001333644.1:p.Gln442=
NM_001346715.2:c.1326A>G (SGCE) NP_001333644.1:p.Gln442=
NM_001346717.1:c.1218A>G (SGCE) NP_001333646.1:p.Gln406=
NM_001346717.2:c.1218A>G (SGCE) NP_001333646.1:p.Gln406=
NM_001346719.1:c.1158A>G (SGCE) NP_001333648.1:p.Gln386=
NM_001346719.2:c.1158A>G (SGCE) NP_001333648.1:p.Gln386=
NM_001346720.1:c.972A>G (SGCE) NP_001333649.1:p.Gln324=
NM_001346720.2:c.972A>G (SGCE) NP_001333649.1:p.Gln324=
NM_001362807.1:c.1131A>G (SGCE) NP_001349736.1:p.Gln377=
NM_001362807.2:c.1131A>G (SGCE) NP_001349736.1:p.Gln377=
NM_001362808.1:c.945A>G (SGCE) NP_001349737.1:p.Gln315=
NM_001362808.2:c.945A>G (SGCE) NP_001349737.1:p.Gln315=
NM_001362809.1:c.1095A>G (SGCE) NP_001349738.1:p.Gln365=
NM_001362809.2:c.1095A>G (SGCE) NP_001349738.1:p.Gln365=
NM_003919.2:c.1245A>G (SGCE) NP_003910.1:p.Gln415=
ENST00000265735.11:c.1245A>G (SGCE) ENSP00000265735.6:p.Gln415=
ENST00000415788.2:c.1353A>G (SGCE) ENSP00000405313.2:p.Gln451=
ENST00000415788.3:c.1353A>G (SGCE) ENSP00000405313.2:p.Gln451=
ENST00000428696.6:c.1218A>G (SGCE) ENSP00000397536.2:p.Gln406=
ENST00000428696.7:c.1197A>G (SGCE) ENSP00000397536.3:p.Gln399=
ENST00000437425.6:c.1122A>G (SGCE) ENSP00000394061.2:p.Gln374=
ENST00000437425.7:c.1122A>G (SGCE) ENSP00000394061.2:p.Gln374=
ENST00000445866.6:c.1245A>G (SGCE) ENSP00000398930.2:p.Gln415=
ENST00000445866.7:c.1245A>G (SGCE) ENSP00000398930.2:p.Gln415=
ENST00000447873.5:c.1218A>G (SGCE) ENSP00000388734.1:p.Gln406=
ENST00000447873.6:c.1218A>G (SGCE) ENSP00000388734.1:p.Gln406=
ENST00000472326.2:n.355A>G (SGCE)
ENST00000522045.5:c.122+914A>G (SGCE) ENSP00000431080.1:n.122+914A>G
ENST00000642291.1:c.1180A>G (SGCE)
ENST00000642353.1:n.1216A>G (SGCE)
ENST00000642394.1:c.1095A>G (SGCE) ENSP00000493751.1:p.Gln365=
ENST00000642441.1:c.1299A>G (SGCE) ENSP00000495994.1:p.Gln433=
ENST00000642497.1:n.1991A>G (SGCE)
ENST00000642564.1:n.1345A>G (SGCE)
ENST00000642638.1:c.*1283A>G (SGCE) ENSP00000495555.1:n.*1283A>G
ENST00000642707.1:c.1326A>G (SGCE) ENSP00000495270.1:p.Gln442=
ENST00000642754.1:n.6117A>G (SGCE)
ENST00000642759.1:n.1307A>G (SGCE)
ENST00000642802.1:n.1040A>G (SGCE)
ENST00000642904.1:n.1306A>G (SGCE)
ENST00000642933.1:c.1218A>G (SGCE) ENSP00000496237.1:p.Gln406=
ENST00000643020.1:c.1171A>G (SGCE)
ENST00000643041.1:c.*206A>G (SGCE) ENSP00000495311.1:n.*206A>G
ENST00000643128.1:c.1245A>G (SGCE) ENSP00000496678.1:p.Gln415=
ENST00000643160.1:c.476A>G (SGCE)
ENST00000643193.1:c.1218A>G (SGCE) ENSP00000496559.1:p.Gln406=
ENST00000643206.1:c.*826A>G (SGCE) ENSP00000496172.1:n.*826A>G
ENST00000643272.1:c.1326A>G (SGCE) ENSP00000494488.1:p.Gln442=
ENST00000643324.1:n.2136A>G (SGCE)
ENST00000643491.1:n.1146A>G (SGCE)
ENST00000643568.1:c.899A>G (SGCE)
ENST00000643605.1:c.*1205A>G (SGCE) ENSP00000496480.1:n.*1205A>G
ENST00000643610.1:c.1245A>G (SGCE) ENSP00000494350.1:p.Gln415=
ENST00000643714.1:n.1286A>G (SGCE)
ENST00000643903.1:c.1218A>G (SGCE) ENSP00000495165.1:p.Gln406=
ENST00000643991.1:c.1127A>G (SGCE)
ENST00000644087.1:c.*1295A>G (SGCE) ENSP00000495249.1:n.*1295A>G
ENST00000644116.1:c.1218A>G (SGCE) ENSP00000495276.1:p.Gln406=
ENST00000644122.1:c.1326A>G (SGCE) ENSP00000495236.1:p.Gln442=
ENST00000644268.1:n.1838A>G (SGCE)
ENST00000644373.1:n.2254A>G (SGCE)
ENST00000644375.1:c.1284A>G (SGCE) ENSP00000494315.1:p.Gln428=
ENST00000644533.1:n.2000A>G (SGCE)
ENST00000644551.1:c.1326A>G (SGCE) ENSP00000493981.1:p.Gln442=
ENST00000644609.1:c.1218A>G (SGCE) ENSP00000496045.1:p.Gln406=
ENST00000644639.1:c.*879A>G (SGCE) ENSP00000496391.1:n.*879A>G
ENST00000644658.1:c.597A>G (SGCE)
ENST00000644674.1:n.1146A>G (SGCE)
ENST00000644681.1:c.945A>G (SGCE) ENSP00000496455.1:p.Gln315=
ENST00000644682.1:c.1282A>G (SGCE)
ENST00000644816.1:c.1245A>G (SGCE) ENSP00000494898.1:p.Gln415=
ENST00000645101.1:c.1407A>G (SGCE) ENSP00000494975.1:p.Gln469=
ENST00000645109.1:c.1353A>G (SGCE) ENSP00000495931.1:p.Gln451=
ENST00000645262.1:c.1095A>G (SGCE) ENSP00000494164.1:p.Gln365=
ENST00000645445.1:c.1192A>G (SGCE)
ENST00000645535.1:c.945A>G (SGCE) ENSP00000493984.1:p.Gln315=
ENST00000645579.1:n.2138A>G (SGCE)
ENST00000645624.1:n.781A>G (SGCE)
ENST00000645665.1:n.464A>G (SGCE)
ENST00000645725.1:c.1299A>G (SGCE) ENSP00000495480.1:p.Gln433=
ENST00000645804.1:c.56+914A>G (SGCE) ENSP00000494688.1:n.56+914A>G
ENST00000646098.1:c.1221A>G (SGCE) ENSP00000495591.1:p.Gln407=
ENST00000646119.1:c.1219A>G (SGCE)
ENST00000646137.1:c.1218A>G (SGCE) ENSP00000495199.1:p.Gln406=
ENST00000646265.1:c.1307A>G (SGCE)
ENST00000646301.1:c.1191A>G (SGCE)
ENST00000646434.1:c.1467A>G (SGCE)
ENST00000646466.1:c.*1148A>G (SGCE) ENSP00000493511.1:n.*1148A>G
ENST00000646489.1:c.1353A>G (SGCE) ENSP00000496268.1:p.Gln451=
ENST00000646559.1:c.*1175A>G (SGCE) ENSP00000495838.1:n.*1175A>G
ENST00000646600.1:c.*1148A>G (SGCE) ENSP00000494041.1:n.*1148A>G
ENST00000646879.1:c.1218A>G (SGCE) ENSP00000495209.1:p.Gln406=
ENST00000646910.1:n.1278A>G (SGCE)
ENST00000646943.1:c.1245A>G (SGCE) ENSP00000494666.1:p.Gln415=
ENST00000647018.1:c.1353A>G (SGCE) ENSP00000493722.1:p.Gln451=
ENST00000647031.1:n.3832A>G (SGCE)
ENST00000647048.1:c.1042A>G (SGCE)
ENST00000647096.1:c.1353A>G (SGCE) ENSP00000494192.1:p.Gln451=
ENST00000647110.1:c.1224A>G (SGCE) ENSP00000494738.1:p.Gln408=
ENST00000647334.1:c.1324A>G (SGCE)
ENST00000647351.1:c.1326A>G (SGCE) ENSP00000494556.1:p.Gln442=
ENST00000647379.1:n.458A>G (SGCE)
ENST00000647533.1:n.2866A>G (SGCE)
XM_005250675.3:c.1353A>G (SGCE) XP_005250732.1:p.Gln451=
XM_005250677.3:c.1326A>G (SGCE) XP_005250734.1:p.Gln442=
XM_011516495.1:c.2128-32533T>C (CASD1) XP_011514797.1:n.2128-32533T>C
XM_011516495.2:c.2128-32533T>C (CASD1) XP_011514797.1:n.2128-32533T>C
XM_011516663.1:c.1353A>G (SGCE) XP_011514965.1:p.Gln451=
XM_011516663.2:c.1353A>G (SGCE) XP_011514965.1:p.Gln451=
XM_011516664.1:c.1326A>G (SGCE) XP_011514966.1:p.Gln442=
XM_011516664.2:c.1326A>G (SGCE) XP_011514966.1:p.Gln442=
XM_011516665.1:c.1245A>G (SGCE) XP_011514967.1:p.Gln415=
XM_011516665.3:c.1245A>G (SGCE) XP_011514967.1:p.Gln415=
XM_011516666.1:c.1218A>G (SGCE) XP_011514968.1:p.Gln406=
XM_011516666.3:c.1218A>G (SGCE) XP_011514968.1:p.Gln406=
XM_011516667.1:c.1158A>G (SGCE) XP_011514969.1:p.Gln386=
XM_011516667.2:c.1158A>G (SGCE) XP_011514969.1:p.Gln386=
XM_011516668.1:c.1122A>G (SGCE) XP_011514970.1:p.Gln374=
XM_011516669.1:c.972A>G (SGCE) XP_011514971.1:p.Gln324=
XM_011516669.3:c.972A>G (SGCE) XP_011514971.1:p.Gln324=
XM_017012763.1:c.1158A>G (SGCE) XP_016868252.1:p.Gln386=
XM_017012767.1:c.945A>G (SGCE) XP_016868256.1:p.Gln315=
XM_024446985.1:c.1122A>G (SGCE) XP_024302753.1:p.Gln374=
XM_024446986.1:c.1095A>G (SGCE) XP_024302754.1:p.Gln365=
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