Canonical Allele Identifier: CA4348625

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94598907A>G , CM000669.2:g.94598907A>G GRCh38
NC_000007.13:g.94228219A>G , CM000669.1:g.94228219A>G GRCh37
NC_000007.12:g.94066155A>G NCBI36
NG_008893.1:g.62303T>C
NG_008893.2:g.62303T>C
NG_008893.3:g.62666T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415788.3:c.1229T>C (SGCE) ENSP00000405313.2:p.Met410Thr
ENST00000428696.7:c.1073T>C (SGCE) ENSP00000397536.3:p.Met358Thr
ENST00000437425.7:c.998T>C (SGCE) ENSP00000394061.2:p.Met333Thr
ENST00000445866.7:c.1121T>C (SGCE) ENSP00000398930.2:p.Met374Thr
ENST00000447873.6:c.1094T>C (SGCE) ENSP00000388734.1:p.Met365Thr
ENST00000642291.1:c.1056T>C (SGCE)
ENST00000642353.1:n.1092T>C (SGCE)
ENST00000642394.1:c.971T>C (SGCE) ENSP00000493751.1:p.Met324Thr
ENST00000642441.1:c.1175T>C (SGCE) ENSP00000495994.1:p.Met392Thr
ENST00000642497.1:n.1867T>C (SGCE)
ENST00000642564.1:n.1221T>C (SGCE)
ENST00000642638.1:c.*1159T>C (SGCE) ENSP00000495555.1:n.*1159T>C
ENST00000642707.1:c.1202T>C (SGCE) ENSP00000495270.1:p.Met401Thr
ENST00000642754.1:n.5993T>C (SGCE)
ENST00000642759.1:n.1183T>C (SGCE)
ENST00000642802.1:n.916T>C (SGCE)
ENST00000642904.1:n.1182T>C (SGCE)
ENST00000642933.1:c.1094T>C (SGCE) ENSP00000496237.1:p.Met365Thr
ENST00000643020.1:c.1047T>C (SGCE)
ENST00000643041.1:c.*82T>C (SGCE) ENSP00000495311.1:n.*82T>C
ENST00000643128.1:c.1121T>C (SGCE) ENSP00000496678.1:p.Met374Thr
ENST00000643160.1:c.352T>C (SGCE)
ENST00000643193.1:c.1094T>C (SGCE) ENSP00000496559.1:p.Met365Thr
ENST00000643206.1:c.*702T>C (SGCE) ENSP00000496172.1:n.*702T>C
ENST00000643272.1:c.1202T>C (SGCE) ENSP00000494488.1:p.Met401Thr
ENST00000643324.1:n.2012T>C (SGCE)
ENST00000643491.1:n.1022T>C (SGCE)
ENST00000643568.1:c.775T>C (SGCE)
ENST00000643605.1:c.*1081T>C (SGCE) ENSP00000496480.1:n.*1081T>C
ENST00000643610.1:c.1121T>C (SGCE) ENSP00000494350.1:p.Met374Thr
ENST00000643714.1:n.1162T>C (SGCE)
ENST00000643903.1:c.1094T>C (SGCE) ENSP00000495165.1:p.Met365Thr
ENST00000643991.1:c.1003T>C (SGCE)
ENST00000644087.1:c.*1171T>C (SGCE) ENSP00000495249.1:n.*1171T>C
ENST00000644116.1:c.1094T>C (SGCE) ENSP00000495276.1:p.Met365Thr
ENST00000644122.1:c.1202T>C (SGCE) ENSP00000495236.1:p.Met401Thr
ENST00000644268.1:n.1714T>C (SGCE)
ENST00000644373.1:n.2130T>C (SGCE)
ENST00000644375.1:c.1160T>C (SGCE) ENSP00000494315.1:p.Met387Thr
ENST00000644533.1:n.1876T>C (SGCE)
ENST00000644551.1:c.1202T>C (SGCE) ENSP00000493981.1:p.Met401Thr
ENST00000644609.1:c.1094T>C (SGCE) ENSP00000496045.1:p.Met365Thr
ENST00000644639.1:c.*755T>C (SGCE) ENSP00000496391.1:n.*755T>C
ENST00000644658.1:c.473T>C (SGCE)
ENST00000644674.1:n.1022T>C (SGCE)
ENST00000644681.1:c.821T>C (SGCE) ENSP00000496455.1:p.Met274Thr
ENST00000644682.1:c.1158T>C (SGCE)
ENST00000644816.1:c.1121T>C (SGCE) ENSP00000494898.1:p.Met374Thr
ENST00000645101.1:c.1283T>C (SGCE) ENSP00000494975.1:p.Met428Thr
ENST00000645109.1:c.1229T>C (SGCE) ENSP00000495931.1:p.Met410Thr
ENST00000645262.1:c.971T>C (SGCE) ENSP00000494164.1:p.Met324Thr
ENST00000645445.1:c.1068T>C (SGCE)
ENST00000645535.1:c.821T>C (SGCE) ENSP00000493984.1:p.Met274Thr
ENST00000645579.1:n.2014T>C (SGCE)
ENST00000645624.1:n.657T>C (SGCE)
ENST00000645665.1:n.340T>C (SGCE)
ENST00000645725.1:c.1175T>C (SGCE) ENSP00000495480.1:p.Met392Thr
ENST00000645804.1:c.56+790T>C (SGCE) ENSP00000494688.1:n.56+790T>C
ENST00000646098.1:c.1097T>C (SGCE) ENSP00000495591.1:p.Met366Thr
ENST00000646119.1:c.1095T>C (SGCE)
ENST00000646137.1:c.1094T>C (SGCE) ENSP00000495199.1:p.Met365Thr
ENST00000646265.1:c.1183T>C (SGCE)
ENST00000646301.1:c.1067T>C (SGCE)
ENST00000646434.1:c.1343T>C (SGCE)
ENST00000646466.1:c.*1024T>C (SGCE) ENSP00000493511.1:n.*1024T>C
ENST00000646489.1:c.1229T>C (SGCE) ENSP00000496268.1:p.Met410Thr
ENST00000646559.1:c.*1051T>C (SGCE) ENSP00000495838.1:n.*1051T>C
ENST00000646600.1:c.*1024T>C (SGCE) ENSP00000494041.1:n.*1024T>C
ENST00000646682.1:c.*729T>C (SGCE) ENSP00000496461.1:n.*729T>C
ENST00000646879.1:c.1094T>C (SGCE) ENSP00000495209.1:p.Met365Thr
ENST00000646910.1:n.1154T>C (SGCE)
ENST00000646943.1:c.1121T>C (SGCE) ENSP00000494666.1:p.Met374Thr
ENST00000647018.1:c.1229T>C (SGCE) ENSP00000493722.1:p.Met410Thr
ENST00000647031.1:n.3708T>C (SGCE)
ENST00000647048.1:c.918T>C (SGCE)
ENST00000647096.1:c.1229T>C (SGCE) ENSP00000494192.1:p.Met410Thr
ENST00000647110.1:c.1100T>C (SGCE) ENSP00000494738.1:p.Met367Thr
ENST00000647334.1:c.1200T>C (SGCE)
ENST00000647351.1:c.1202T>C (SGCE) ENSP00000494556.1:p.Met401Thr
ENST00000647379.1:n.334T>C (SGCE)
ENST00000647533.1:n.2742T>C (SGCE)
ENST00000648936.2:c.1121T>C (SGCE) MANE Select ENSP00000497130.1:p.Met374Thr
ENST00000265735.11:c.1121T>C (SGCE) ENSP00000265735.6:p.Met374Thr
ENST00000415788.2:c.1229T>C (SGCE) ENSP00000405313.2:p.Met410Thr
ENST00000428696.6:c.1094T>C (SGCE) ENSP00000397536.2:p.Met365Thr
ENST00000437425.6:c.998T>C (SGCE) ENSP00000394061.2:p.Met333Thr
ENST00000445866.6:c.1121T>C (SGCE) ENSP00000398930.2:p.Met374Thr
ENST00000447873.5:c.1094T>C (SGCE) ENSP00000388734.1:p.Met365Thr
ENST00000472326.2:n.231T>C (SGCE)
ENST00000522045.5:c.122+790T>C (SGCE) ENSP00000431080.1:n.122+790T>C
NM_001099400.1:c.1094T>C (SGCE) NP_001092870.1:p.Met365Thr
NM_001099401.1:c.1121T>C (SGCE) NP_001092871.1:p.Met374Thr
NM_001301139.1:c.998T>C (SGCE) NP_001288068.1:p.Met333Thr
NM_003919.2:c.1121T>C (SGCE) NP_003910.1:p.Met374Thr
XM_005250675.3:c.1229T>C (SGCE) XP_005250732.1:p.Met410Thr
XM_005250677.3:c.1202T>C (SGCE) XP_005250734.1:p.Met401Thr
XM_011516495.1:c.2128-32409A>G (CASD1) XP_011514797.1:n.2128-32409A>G
XM_011516663.1:c.1229T>C (SGCE) XP_011514965.1:p.Met410Thr
XM_011516664.1:c.1202T>C (SGCE) XP_011514966.1:p.Met401Thr
XM_011516665.1:c.1121T>C (SGCE) XP_011514967.1:p.Met374Thr
XM_011516666.1:c.1094T>C (SGCE) XP_011514968.1:p.Met365Thr
XM_011516667.1:c.1034T>C (SGCE) XP_011514969.1:p.Met345Thr
XM_011516668.1:c.998T>C (SGCE) XP_011514970.1:p.Met333Thr
XM_011516669.1:c.848T>C (SGCE) XP_011514971.1:p.Met283Thr
NM_001346713.1:c.1229T>C (SGCE) NP_001333642.1:p.Met410Thr
NM_001346715.1:c.1202T>C (SGCE) NP_001333644.1:p.Met401Thr
NM_001346717.1:c.1094T>C (SGCE) NP_001333646.1:p.Met365Thr
NM_001346719.1:c.1034T>C (SGCE) NP_001333648.1:p.Met345Thr
NM_001346720.1:c.848T>C (SGCE) NP_001333649.1:p.Met283Thr
NM_001362807.1:c.1007T>C (SGCE) NP_001349736.1:p.Met336Thr
NM_001362808.1:c.821T>C (SGCE) NP_001349737.1:p.Met274Thr
NM_001362809.1:c.971T>C (SGCE) NP_001349738.1:p.Met324Thr
XM_011516495.2:c.2128-32409A>G (CASD1) XP_011514797.1:n.2128-32409A>G
XM_011516663.2:c.1229T>C (SGCE) XP_011514965.1:p.Met410Thr
XM_011516664.2:c.1202T>C (SGCE) XP_011514966.1:p.Met401Thr
XM_011516665.3:c.1121T>C (SGCE) XP_011514967.1:p.Met374Thr
XM_011516666.3:c.1094T>C (SGCE) XP_011514968.1:p.Met365Thr
XM_011516667.2:c.1034T>C (SGCE) XP_011514969.1:p.Met345Thr
XM_011516669.3:c.848T>C (SGCE) XP_011514971.1:p.Met283Thr
XM_017012763.1:c.1034T>C (SGCE) XP_016868252.1:p.Met345Thr
XM_017012767.1:c.821T>C (SGCE) XP_016868256.1:p.Met274Thr
XM_024446985.1:c.998T>C (SGCE) XP_024302753.1:p.Met333Thr
XM_024446986.1:c.971T>C (SGCE) XP_024302754.1:p.Met324Thr
NM_001099400.2:c.1094T>C (SGCE) NP_001092870.1:p.Met365Thr
NM_001099401.2:c.1121T>C (SGCE) NP_001092871.1:p.Met374Thr
NM_001301139.2:c.998T>C (SGCE) NP_001288068.1:p.Met333Thr
NM_001346713.2:c.1229T>C (SGCE) NP_001333642.1:p.Met410Thr
NM_001346715.2:c.1202T>C (SGCE) NP_001333644.1:p.Met401Thr
NM_001346717.2:c.1094T>C (SGCE) NP_001333646.1:p.Met365Thr
NM_001346719.2:c.1034T>C (SGCE) NP_001333648.1:p.Met345Thr
NM_001346720.2:c.848T>C (SGCE) NP_001333649.1:p.Met283Thr
NM_001362807.2:c.1007T>C (SGCE) NP_001349736.1:p.Met336Thr
NM_001362808.2:c.821T>C (SGCE) NP_001349737.1:p.Met274Thr
NM_001362809.2:c.971T>C (SGCE) NP_001349738.1:p.Met324Thr
NM_003919.3:c.1121T>C (SGCE) MANE Select NP_003910.1:p.Met374Thr