Canonical Allele Identifier: CA2578945514
Gene: SGCE HGNC NCBI
CASD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2125072
ClinVar RCV Id: RCV003039934
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94598759C>T , CM000669.2:g.94598759C>T GRCh38
NC_000007.13:g.94228071C>T , CM000669.1:g.94228071C>T GRCh37
NC_000007.12:g.94066007C>T NCBI36
NG_008893.1:g.62451G>A
NG_008893.2:g.62451G>A
NG_008893.3:g.62814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415788.3:c.1361+16G>A (SGCE) ENSP00000405313.2:n.1361+16G>A
ENST00000428696.7:c.1205+16G>A (SGCE) ENSP00000397536.3:n.1205+16G>A
ENST00000437425.7:c.1130+16G>A (SGCE) ENSP00000394061.2:n.1130+16G>A
ENST00000445866.7:c.1253+16G>A (SGCE) ENSP00000398930.2:n.1253+16G>A
ENST00000447873.6:c.1226+16G>A (SGCE) ENSP00000388734.1:n.1226+16G>A
ENST00000642291.1:c.1188+16G>A (SGCE)
ENST00000642353.1:n.1224+16G>A (SGCE)
ENST00000642394.1:c.1103+16G>A (SGCE) ENSP00000493751.1:n.1103+16G>A
ENST00000642441.1:c.1307+16G>A (SGCE) ENSP00000495994.1:n.1307+16G>A
ENST00000642497.1:n.1999+16G>A (SGCE)
ENST00000642564.1:n.1353+16G>A (SGCE)
ENST00000642638.1:c.*1291+16G>A (SGCE) ENSP00000495555.1:n.*1291+16G>A
ENST00000642707.1:c.1334+16G>A (SGCE) ENSP00000495270.1:n.1334+16G>A
ENST00000642754.1:n.6125+16G>A (SGCE)
ENST00000642759.1:n.1315+16G>A (SGCE)
ENST00000642802.1:n.1048+16G>A (SGCE)
ENST00000642904.1:n.1314+16G>A (SGCE)
ENST00000642933.1:c.1226+16G>A (SGCE) ENSP00000496237.1:n.1226+16G>A
ENST00000643020.1:c.1179+16G>A (SGCE)
ENST00000643041.1:c.*214+16G>A (SGCE) ENSP00000495311.1:n.*214+16G>A
ENST00000643128.1:c.*12G>A (SGCE) ENSP00000496678.1:n.*12G>A
ENST00000643160.1:c.484+16G>A (SGCE)
ENST00000643193.1:c.1226+16G>A (SGCE) ENSP00000496559.1:n.1226+16G>A
ENST00000643206.1:c.*834+16G>A (SGCE) ENSP00000496172.1:n.*834+16G>A
ENST00000643272.1:c.1334+16G>A (SGCE) ENSP00000494488.1:n.1334+16G>A
ENST00000643324.1:n.2144+16G>A (SGCE)
ENST00000643491.1:n.1154+16G>A (SGCE)
ENST00000643568.1:c.907+16G>A (SGCE)
ENST00000643605.1:c.*1213+16G>A (SGCE) ENSP00000496480.1:n.*1213+16G>A
ENST00000643610.1:c.1253+16G>A (SGCE) ENSP00000494350.1:n.1253+16G>A
ENST00000643714.1:n.1294+16G>A (SGCE)
ENST00000643903.1:c.*12G>A (SGCE) ENSP00000495165.1:n.*12G>A
ENST00000643991.1:c.1135+16G>A (SGCE)
ENST00000644087.1:c.*1303+16G>A (SGCE) ENSP00000495249.1:n.*1303+16G>A
ENST00000644116.1:c.1226+16G>A (SGCE) ENSP00000495276.1:n.1226+16G>A
ENST00000644122.1:c.1334+16G>A (SGCE) ENSP00000495236.1:n.1334+16G>A
ENST00000644268.1:n.1846+16G>A (SGCE)
ENST00000644373.1:n.2262+16G>A (SGCE)
ENST00000644375.1:c.1292+16G>A (SGCE) ENSP00000494315.1:n.1292+16G>A
ENST00000644533.1:n.2008+16G>A (SGCE)
ENST00000644551.1:c.1334+16G>A (SGCE) ENSP00000493981.1:n.1334+16G>A
ENST00000644609.1:c.1226+16G>A (SGCE) ENSP00000496045.1:n.1226+16G>A
ENST00000644639.1:c.*887+16G>A (SGCE) ENSP00000496391.1:n.*887+16G>A
ENST00000644658.1:c.605+16G>A (SGCE)
ENST00000644674.1:n.1154+16G>A (SGCE)
ENST00000644681.1:c.953+16G>A (SGCE) ENSP00000496455.1:n.953+16G>A
ENST00000644682.1:c.1290+16G>A (SGCE)
ENST00000644816.1:c.1253+16G>A (SGCE) ENSP00000494898.1:n.1253+16G>A
ENST00000645101.1:c.1415+16G>A (SGCE) ENSP00000494975.1:n.1415+16G>A
ENST00000645109.1:c.*12G>A (SGCE) ENSP00000495931.1:n.*12G>A
ENST00000645262.1:c.1103+16G>A (SGCE) ENSP00000494164.1:n.1103+16G>A
ENST00000645445.1:c.1200+16G>A (SGCE)
ENST00000645535.1:c.953+16G>A (SGCE) ENSP00000493984.1:n.953+16G>A
ENST00000645579.1:n.2146+16G>A (SGCE)
ENST00000645624.1:n.789+16G>A (SGCE)
ENST00000645665.1:n.472+16G>A (SGCE)
ENST00000645725.1:c.1307+16G>A (SGCE) ENSP00000495480.1:n.1307+16G>A
ENST00000645804.1:c.56+938G>A (SGCE) ENSP00000494688.1:n.56+938G>A
ENST00000646098.1:c.1229+16G>A (SGCE) ENSP00000495591.1:n.1229+16G>A
ENST00000646119.1:c.1227+16G>A (SGCE)
ENST00000646137.1:c.1226+16G>A (SGCE) ENSP00000495199.1:n.1226+16G>A
ENST00000646265.1:c.1315+16G>A (SGCE)
ENST00000646301.1:c.1199+16G>A (SGCE)
ENST00000646434.1:c.1475+16G>A (SGCE)
ENST00000646466.1:c.*1156+16G>A (SGCE) ENSP00000493511.1:n.*1156+16G>A
ENST00000646489.1:c.1361+16G>A (SGCE) ENSP00000496268.1:n.1361+16G>A
ENST00000646559.1:c.*1183+16G>A (SGCE) ENSP00000495838.1:n.*1183+16G>A
ENST00000646600.1:c.*1156+16G>A (SGCE) ENSP00000494041.1:n.*1156+16G>A
ENST00000646879.1:c.1226+16G>A (SGCE) ENSP00000495209.1:n.1226+16G>A
ENST00000646910.1:n.1286+16G>A (SGCE)
ENST00000646943.1:c.1253+16G>A (SGCE) ENSP00000494666.1:n.1253+16G>A
ENST00000647018.1:c.1361+16G>A (SGCE) ENSP00000493722.1:n.1361+16G>A
ENST00000647031.1:n.3840+16G>A (SGCE)
ENST00000647048.1:c.1050+16G>A (SGCE)
ENST00000647096.1:c.1361+16G>A (SGCE) ENSP00000494192.1:n.1361+16G>A
ENST00000647110.1:c.1232+16G>A (SGCE) ENSP00000494738.1:n.1232+16G>A
ENST00000647334.1:c.1332+16G>A (SGCE)
ENST00000647351.1:c.1334+16G>A (SGCE) ENSP00000494556.1:n.1334+16G>A
ENST00000647379.1:n.466+16G>A (SGCE)
ENST00000647533.1:n.2874+16G>A (SGCE)
ENST00000648936.2:c.1253+16G>A (SGCE) MANE Select ENSP00000497130.1:n.1253+16G>A
ENST00000265735.11:c.1253+16G>A (SGCE) ENSP00000265735.6:n.1253+16G>A
ENST00000415788.2:c.1361+16G>A (SGCE) ENSP00000405313.2:n.1361+16G>A
ENST00000428696.6:c.1226+16G>A (SGCE) ENSP00000397536.2:n.1226+16G>A
ENST00000437425.6:c.1130+16G>A (SGCE) ENSP00000394061.2:n.1130+16G>A
ENST00000445866.6:c.1253+16G>A (SGCE) ENSP00000398930.2:n.1253+16G>A
ENST00000447873.5:c.1226+16G>A (SGCE) ENSP00000388734.1:n.1226+16G>A
ENST00000472326.2:n.363+16G>A (SGCE)
ENST00000522045.5:c.122+938G>A (SGCE) ENSP00000431080.1:n.122+938G>A
NM_001099400.1:c.1226+16G>A (SGCE) NP_001092870.1:n.1226+16G>A
NM_001099401.1:c.1253+16G>A (SGCE) NP_001092871.1:n.1253+16G>A
NM_001301139.1:c.1130+16G>A (SGCE) NP_001288068.1:n.1130+16G>A
NM_003919.2:c.1253+16G>A (SGCE) NP_003910.1:n.1253+16G>A
XM_005250675.3:c.1361+16G>A (SGCE) XP_005250732.1:n.1361+16G>A
XM_005250677.3:c.1334+16G>A (SGCE) XP_005250734.1:n.1334+16G>A
XM_011516495.1:c.2128-32557C>T (CASD1) XP_011514797.1:n.2128-32557C>T
XM_011516663.1:c.1361+16G>A (SGCE) XP_011514965.1:n.1361+16G>A
XM_011516664.1:c.1334+16G>A (SGCE) XP_011514966.1:n.1334+16G>A
XM_011516665.1:c.1253+16G>A (SGCE) XP_011514967.1:n.1253+16G>A
XM_011516666.1:c.1226+16G>A (SGCE) XP_011514968.1:n.1226+16G>A
XM_011516667.1:c.1166+16G>A (SGCE) XP_011514969.1:n.1166+16G>A
XM_011516668.1:c.1130+16G>A (SGCE) XP_011514970.1:n.1130+16G>A
XM_011516669.1:c.980+16G>A (SGCE) XP_011514971.1:n.980+16G>A
NM_001346713.1:c.1361+16G>A (SGCE) NP_001333642.1:n.1361+16G>A
NM_001346715.1:c.1334+16G>A (SGCE) NP_001333644.1:n.1334+16G>A
NM_001346717.1:c.1226+16G>A (SGCE) NP_001333646.1:n.1226+16G>A
NM_001346719.1:c.1166+16G>A (SGCE) NP_001333648.1:n.1166+16G>A
NM_001346720.1:c.980+16G>A (SGCE) NP_001333649.1:n.980+16G>A
NM_001362807.1:c.1139+16G>A (SGCE) NP_001349736.1:n.1139+16G>A
NM_001362808.1:c.953+16G>A (SGCE) NP_001349737.1:n.953+16G>A
NM_001362809.1:c.1103+16G>A (SGCE) NP_001349738.1:n.1103+16G>A
XM_011516495.2:c.2128-32557C>T (CASD1) XP_011514797.1:n.2128-32557C>T
XM_011516663.2:c.1361+16G>A (SGCE) XP_011514965.1:n.1361+16G>A
XM_011516664.2:c.1334+16G>A (SGCE) XP_011514966.1:n.1334+16G>A
XM_011516665.3:c.1253+16G>A (SGCE) XP_011514967.1:n.1253+16G>A
XM_011516666.3:c.1226+16G>A (SGCE) XP_011514968.1:n.1226+16G>A
XM_011516667.2:c.1166+16G>A (SGCE) XP_011514969.1:n.1166+16G>A
XM_011516669.3:c.980+16G>A (SGCE) XP_011514971.1:n.980+16G>A
XM_017012763.1:c.1166+16G>A (SGCE) XP_016868252.1:n.1166+16G>A
XM_017012767.1:c.953+16G>A (SGCE) XP_016868256.1:n.953+16G>A
XM_024446985.1:c.1130+16G>A (SGCE) XP_024302753.1:n.1130+16G>A
XM_024446986.1:c.1103+16G>A (SGCE) XP_024302754.1:n.1103+16G>A
NM_001099400.2:c.1226+16G>A (SGCE) NP_001092870.1:n.1226+16G>A
NM_001099401.2:c.1253+16G>A (SGCE) NP_001092871.1:n.1253+16G>A
NM_001301139.2:c.1130+16G>A (SGCE) NP_001288068.1:n.1130+16G>A
NM_001346713.2:c.1361+16G>A (SGCE) NP_001333642.1:n.1361+16G>A
NM_001346715.2:c.1334+16G>A (SGCE) NP_001333644.1:n.1334+16G>A
NM_001346717.2:c.1226+16G>A (SGCE) NP_001333646.1:n.1226+16G>A
NM_001346719.2:c.1166+16G>A (SGCE) NP_001333648.1:n.1166+16G>A
NM_001346720.2:c.980+16G>A (SGCE) NP_001333649.1:n.980+16G>A
NM_001362807.2:c.1139+16G>A (SGCE) NP_001349736.1:n.1139+16G>A
NM_001362808.2:c.953+16G>A (SGCE) NP_001349737.1:n.953+16G>A
NM_001362809.2:c.1103+16G>A (SGCE) NP_001349738.1:n.1103+16G>A
NM_003919.3:c.1253+16G>A (SGCE) MANE Select NP_003910.1:n.1253+16G>A
Search 100 bp 5'
Search 100 bp 3'