Canonical Allele Identifier: CA162920306
Gene: SGCE HGNC NCBI
CASD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1063416
ClinVar RCV Id: RCV001373249
dbSNP Id: rs747427574
MyVariant Identifiers: chr7:g.94228145G>C (hg19) chr7:g.94598833G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94598833G>C , CM000669.2:g.94598833G>C GRCh38
NC_000007.13:g.94228145G>C , CM000669.1:g.94228145G>C GRCh37
NC_000007.12:g.94066081G>C NCBI36
NG_008893.1:g.62377C>G
NG_008893.2:g.62377C>G
NG_008893.3:g.62740C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415788.3:c.1303C>G (SGCE) ENSP00000405313.2:p.Pro435Ala
ENST00000428696.7:c.1147C>G (SGCE) ENSP00000397536.3:p.Pro383Ala
ENST00000437425.7:c.1072C>G (SGCE) ENSP00000394061.2:p.Pro358Ala
ENST00000445866.7:c.1195C>G (SGCE) ENSP00000398930.2:p.Pro399Ala
ENST00000447873.6:c.1168C>G (SGCE) ENSP00000388734.1:p.Pro390Ala
ENST00000642291.1:c.1130C>G (SGCE)
ENST00000642353.1:n.1166C>G (SGCE)
ENST00000642394.1:c.1045C>G (SGCE) ENSP00000493751.1:p.Pro349Ala
ENST00000642441.1:c.1249C>G (SGCE) ENSP00000495994.1:p.Pro417Ala
ENST00000642497.1:n.1941C>G (SGCE)
ENST00000642564.1:n.1295C>G (SGCE)
ENST00000642638.1:c.*1233C>G (SGCE) ENSP00000495555.1:n.*1233C>G
ENST00000642707.1:c.1276C>G (SGCE) ENSP00000495270.1:p.Pro426Ala
ENST00000642754.1:n.6067C>G (SGCE)
ENST00000642759.1:n.1257C>G (SGCE)
ENST00000642802.1:n.990C>G (SGCE)
ENST00000642904.1:n.1256C>G (SGCE)
ENST00000642933.1:c.1168C>G (SGCE) ENSP00000496237.1:p.Pro390Ala
ENST00000643020.1:c.1121C>G (SGCE)
ENST00000643041.1:c.*156C>G (SGCE) ENSP00000495311.1:n.*156C>G
ENST00000643128.1:c.1195C>G (SGCE) ENSP00000496678.1:p.Pro399Ala
ENST00000643160.1:c.426C>G (SGCE)
ENST00000643193.1:c.1168C>G (SGCE) ENSP00000496559.1:p.Pro390Ala
ENST00000643206.1:c.*776C>G (SGCE) ENSP00000496172.1:n.*776C>G
ENST00000643272.1:c.1276C>G (SGCE) ENSP00000494488.1:p.Pro426Ala
ENST00000643324.1:n.2086C>G (SGCE)
ENST00000643491.1:n.1096C>G (SGCE)
ENST00000643568.1:c.849C>G (SGCE)
ENST00000643605.1:c.*1155C>G (SGCE) ENSP00000496480.1:n.*1155C>G
ENST00000643610.1:c.1195C>G (SGCE) ENSP00000494350.1:p.Pro399Ala
ENST00000643714.1:n.1236C>G (SGCE)
ENST00000643903.1:c.1168C>G (SGCE) ENSP00000495165.1:p.Pro390Ala
ENST00000643991.1:c.1077C>G (SGCE)
ENST00000644087.1:c.*1245C>G (SGCE) ENSP00000495249.1:n.*1245C>G
ENST00000644116.1:c.1168C>G (SGCE) ENSP00000495276.1:p.Pro390Ala
ENST00000644122.1:c.1276C>G (SGCE) ENSP00000495236.1:p.Pro426Ala
ENST00000644268.1:n.1788C>G (SGCE)
ENST00000644373.1:n.2204C>G (SGCE)
ENST00000644375.1:c.1234C>G (SGCE) ENSP00000494315.1:p.Pro412Ala
ENST00000644533.1:n.1950C>G (SGCE)
ENST00000644551.1:c.1276C>G (SGCE) ENSP00000493981.1:p.Pro426Ala
ENST00000644609.1:c.1168C>G (SGCE) ENSP00000496045.1:p.Pro390Ala
ENST00000644639.1:c.*829C>G (SGCE) ENSP00000496391.1:n.*829C>G
ENST00000644658.1:c.547C>G (SGCE)
ENST00000644674.1:n.1096C>G (SGCE)
ENST00000644681.1:c.895C>G (SGCE) ENSP00000496455.1:p.Pro299Ala
ENST00000644682.1:c.1232C>G (SGCE)
ENST00000644816.1:c.1195C>G (SGCE) ENSP00000494898.1:p.Pro399Ala
ENST00000645101.1:c.1357C>G (SGCE) ENSP00000494975.1:p.Pro453Ala
ENST00000645109.1:c.1303C>G (SGCE) ENSP00000495931.1:p.Pro435Ala
ENST00000645262.1:c.1045C>G (SGCE) ENSP00000494164.1:p.Pro349Ala
ENST00000645445.1:c.1142C>G (SGCE)
ENST00000645535.1:c.895C>G (SGCE) ENSP00000493984.1:p.Pro299Ala
ENST00000645579.1:n.2088C>G (SGCE)
ENST00000645624.1:n.731C>G (SGCE)
ENST00000645665.1:n.414C>G (SGCE)
ENST00000645725.1:c.1249C>G (SGCE) ENSP00000495480.1:p.Pro417Ala
ENST00000645804.1:c.56+864C>G (SGCE) ENSP00000494688.1:n.56+864C>G
ENST00000646098.1:c.1171C>G (SGCE) ENSP00000495591.1:p.Pro391Ala
ENST00000646119.1:c.1169C>G (SGCE)
ENST00000646137.1:c.1168C>G (SGCE) ENSP00000495199.1:p.Pro390Ala
ENST00000646265.1:c.1257C>G (SGCE)
ENST00000646301.1:c.1141C>G (SGCE)
ENST00000646434.1:c.1417C>G (SGCE)
ENST00000646466.1:c.*1098C>G (SGCE) ENSP00000493511.1:n.*1098C>G
ENST00000646489.1:c.1303C>G (SGCE) ENSP00000496268.1:p.Pro435Ala
ENST00000646559.1:c.*1125C>G (SGCE) ENSP00000495838.1:n.*1125C>G
ENST00000646600.1:c.*1098C>G (SGCE) ENSP00000494041.1:n.*1098C>G
ENST00000646879.1:c.1168C>G (SGCE) ENSP00000495209.1:p.Pro390Ala
ENST00000646910.1:n.1228C>G (SGCE)
ENST00000646943.1:c.1195C>G (SGCE) ENSP00000494666.1:p.Pro399Ala
ENST00000647018.1:c.1303C>G (SGCE) ENSP00000493722.1:p.Pro435Ala
ENST00000647031.1:n.3782C>G (SGCE)
ENST00000647048.1:c.992C>G (SGCE)
ENST00000647096.1:c.1303C>G (SGCE) ENSP00000494192.1:p.Pro435Ala
ENST00000647110.1:c.1174C>G (SGCE) ENSP00000494738.1:p.Pro392Ala
ENST00000647334.1:c.1274C>G (SGCE)
ENST00000647351.1:c.1276C>G (SGCE) ENSP00000494556.1:p.Pro426Ala
ENST00000647379.1:n.408C>G (SGCE)
ENST00000647533.1:n.2816C>G (SGCE)
ENST00000648936.2:c.1195C>G (SGCE) MANE Select ENSP00000497130.1:p.Pro399Ala
ENST00000265735.11:c.1195C>G (SGCE) ENSP00000265735.6:p.Pro399Ala
ENST00000415788.2:c.1303C>G (SGCE) ENSP00000405313.2:p.Pro435Ala
ENST00000428696.6:c.1168C>G (SGCE) ENSP00000397536.2:p.Pro390Ala
ENST00000437425.6:c.1072C>G (SGCE) ENSP00000394061.2:p.Pro358Ala
ENST00000445866.6:c.1195C>G (SGCE) ENSP00000398930.2:p.Pro399Ala
ENST00000447873.5:c.1168C>G (SGCE) ENSP00000388734.1:p.Pro390Ala
ENST00000472326.2:n.305C>G (SGCE)
ENST00000522045.5:c.122+864C>G (SGCE) ENSP00000431080.1:n.122+864C>G
NM_001099400.1:c.1168C>G (SGCE) NP_001092870.1:p.Pro390Ala
NM_001099401.1:c.1195C>G (SGCE) NP_001092871.1:p.Pro399Ala
NM_001301139.1:c.1072C>G (SGCE) NP_001288068.1:p.Pro358Ala
NM_003919.2:c.1195C>G (SGCE) NP_003910.1:p.Pro399Ala
XM_005250675.3:c.1303C>G (SGCE) XP_005250732.1:p.Pro435Ala
XM_005250677.3:c.1276C>G (SGCE) XP_005250734.1:p.Pro426Ala
XM_011516495.1:c.2128-32483G>C (CASD1) XP_011514797.1:n.2128-32483G>C
XM_011516663.1:c.1303C>G (SGCE) XP_011514965.1:p.Pro435Ala
XM_011516664.1:c.1276C>G (SGCE) XP_011514966.1:p.Pro426Ala
XM_011516665.1:c.1195C>G (SGCE) XP_011514967.1:p.Pro399Ala
XM_011516666.1:c.1168C>G (SGCE) XP_011514968.1:p.Pro390Ala
XM_011516667.1:c.1108C>G (SGCE) XP_011514969.1:p.Pro370Ala
XM_011516668.1:c.1072C>G (SGCE) XP_011514970.1:p.Pro358Ala
XM_011516669.1:c.922C>G (SGCE) XP_011514971.1:p.Pro308Ala
NM_001346713.1:c.1303C>G (SGCE) NP_001333642.1:p.Pro435Ala
NM_001346715.1:c.1276C>G (SGCE) NP_001333644.1:p.Pro426Ala
NM_001346717.1:c.1168C>G (SGCE) NP_001333646.1:p.Pro390Ala
NM_001346719.1:c.1108C>G (SGCE) NP_001333648.1:p.Pro370Ala
NM_001346720.1:c.922C>G (SGCE) NP_001333649.1:p.Pro308Ala
NM_001362807.1:c.1081C>G (SGCE) NP_001349736.1:p.Pro361Ala
NM_001362808.1:c.895C>G (SGCE) NP_001349737.1:p.Pro299Ala
NM_001362809.1:c.1045C>G (SGCE) NP_001349738.1:p.Pro349Ala
XM_011516495.2:c.2128-32483G>C (CASD1) XP_011514797.1:n.2128-32483G>C
XM_011516663.2:c.1303C>G (SGCE) XP_011514965.1:p.Pro435Ala
XM_011516664.2:c.1276C>G (SGCE) XP_011514966.1:p.Pro426Ala
XM_011516665.3:c.1195C>G (SGCE) XP_011514967.1:p.Pro399Ala
XM_011516666.3:c.1168C>G (SGCE) XP_011514968.1:p.Pro390Ala
XM_011516667.2:c.1108C>G (SGCE) XP_011514969.1:p.Pro370Ala
XM_011516669.3:c.922C>G (SGCE) XP_011514971.1:p.Pro308Ala
XM_017012763.1:c.1108C>G (SGCE) XP_016868252.1:p.Pro370Ala
XM_017012767.1:c.895C>G (SGCE) XP_016868256.1:p.Pro299Ala
XM_024446985.1:c.1072C>G (SGCE) XP_024302753.1:p.Pro358Ala
XM_024446986.1:c.1045C>G (SGCE) XP_024302754.1:p.Pro349Ala
NM_001099400.2:c.1168C>G (SGCE) NP_001092870.1:p.Pro390Ala
NM_001099401.2:c.1195C>G (SGCE) NP_001092871.1:p.Pro399Ala
NM_001301139.2:c.1072C>G (SGCE) NP_001288068.1:p.Pro358Ala
NM_001346713.2:c.1303C>G (SGCE) NP_001333642.1:p.Pro435Ala
NM_001346715.2:c.1276C>G (SGCE) NP_001333644.1:p.Pro426Ala
NM_001346717.2:c.1168C>G (SGCE) NP_001333646.1:p.Pro390Ala
NM_001346719.2:c.1108C>G (SGCE) NP_001333648.1:p.Pro370Ala
NM_001346720.2:c.922C>G (SGCE) NP_001333649.1:p.Pro308Ala
NM_001362807.2:c.1081C>G (SGCE) NP_001349736.1:p.Pro361Ala
NM_001362808.2:c.895C>G (SGCE) NP_001349737.1:p.Pro299Ala
NM_001362809.2:c.1045C>G (SGCE) NP_001349738.1:p.Pro349Ala
NM_003919.3:c.1195C>G (SGCE) MANE Select NP_003910.1:p.Pro399Ala
Search 100 bp 5'
Search 100 bp 3'