Canonical Allele Identifier: CA253601
Gene: SGCE HGNC NCBI
CASD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5773
ClinVar RCV Id: RCV000006129
dbSNP Id: rs121908491
MyVariant Identifiers: chr7:g.94248145A>C (hg19) chr7:g.94618833A>C (hg38)
PubMed: PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94618833A>C , CM000669.2:g.94618833A>C GRCh38
NC_000007.13:g.94248145A>C , CM000669.1:g.94248145A>C GRCh37
NC_000007.12:g.94086081A>C NCBI36
NG_008893.1:g.42377T>G
NG_008893.2:g.42377T>G
NG_008893.3:g.42740T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000415788.3:c.695T>G (SGCE) ENSP00000405313.2:p.Leu232Arg
ENST00000428696.7:c.566T>G (SGCE) ENSP00000397536.3:p.Leu189Arg
ENST00000437425.7:c.464T>G (SGCE) ENSP00000394061.2:p.Leu155Arg
ENST00000445866.7:c.587T>G (SGCE) ENSP00000398930.2:p.Leu196Arg
ENST00000447873.6:c.587T>G (SGCE) ENSP00000388734.1:p.Leu196Arg
ENST00000450385.6:c.*384T>G (SGCE) ENSP00000398344.2:n.*384T>G
ENST00000462731.2:n.132T>G (SGCE)
ENST00000642169.1:c.*44+4492T>G (SGCE) ENSP00000496346.1:n.*44+4492T>G
ENST00000642291.1:c.448T>G (SGCE)
ENST00000642353.1:n.558T>G (SGCE)
ENST00000642394.1:c.464T>G (SGCE) ENSP00000493751.1:p.Leu155Arg
ENST00000642441.1:c.668T>G (SGCE) ENSP00000495994.1:p.Leu223Arg
ENST00000642497.1:n.1360T>G (SGCE)
ENST00000642564.1:n.687T>G (SGCE)
ENST00000642638.1:c.*625T>G (SGCE) ENSP00000495555.1:n.*625T>G
ENST00000642707.1:c.695T>G (SGCE) ENSP00000495270.1:p.Leu232Arg
ENST00000642754.1:n.5459T>G (SGCE)
ENST00000642759.1:n.676T>G (SGCE)
ENST00000642802.1:n.409T>G (SGCE)
ENST00000642904.1:n.675T>G (SGCE)
ENST00000642933.1:c.587T>G (SGCE) ENSP00000496237.1:p.Leu196Arg
ENST00000643020.1:c.513T>G (SGCE)
ENST00000643041.1:c.587T>G (SGCE) ENSP00000495311.1:p.Leu196Arg
ENST00000643128.1:c.587T>G (SGCE) ENSP00000496678.1:p.Leu196Arg
ENST00000643193.1:c.587T>G (SGCE) ENSP00000496559.1:p.Leu196Arg
ENST00000643206.1:c.*168T>G (SGCE) ENSP00000496172.1:n.*168T>G
ENST00000643272.1:c.695T>G (SGCE) ENSP00000494488.1:p.Leu232Arg
ENST00000643324.1:n.1478T>G (SGCE)
ENST00000643368.1:n.493T>G (SGCE)
ENST00000643491.1:n.515T>G (SGCE)
ENST00000643568.1:c.268T>G (SGCE)
ENST00000643605.1:c.*574T>G (SGCE) ENSP00000496480.1:n.*574T>G
ENST00000643610.1:c.587T>G (SGCE) ENSP00000494350.1:p.Leu196Arg
ENST00000643714.1:n.655T>G (SGCE)
ENST00000643903.1:c.587T>G (SGCE) ENSP00000495165.1:p.Leu196Arg
ENST00000643991.1:c.496T>G (SGCE)
ENST00000644087.1:c.*664T>G (SGCE) ENSP00000495249.1:n.*664T>G
ENST00000644116.1:c.587T>G (SGCE) ENSP00000495276.1:p.Leu196Arg
ENST00000644122.1:c.668T>G (SGCE) ENSP00000495236.1:p.Leu223Arg
ENST00000644201.1:c.445+4492T>G (SGCE) ENSP00000495044.1:n.445+4492T>G
ENST00000644268.1:n.1207T>G (SGCE)
ENST00000644373.1:n.1623T>G (SGCE)
ENST00000644375.1:c.653T>G (SGCE) ENSP00000494315.1:p.Leu218Arg
ENST00000644533.1:n.1342T>G (SGCE)
ENST00000644551.1:c.668T>G (SGCE) ENSP00000493981.1:p.Leu223Arg
ENST00000644609.1:c.587T>G (SGCE) ENSP00000496045.1:p.Leu196Arg
ENST00000644639.1:c.*248T>G (SGCE) ENSP00000496391.1:n.*248T>G
ENST00000644658.1:c.151T>G (SGCE)
ENST00000644674.1:n.488T>G (SGCE)
ENST00000644681.1:c.314T>G (SGCE) ENSP00000496455.1:p.Leu105Arg
ENST00000644682.1:c.651T>G (SGCE)
ENST00000644816.1:c.587T>G (SGCE) ENSP00000494898.1:p.Leu196Arg
ENST00000644924.1:n.370T>G (SGCE)
ENST00000644966.1:c.566T>G (SGCE) ENSP00000495105.1:n.566T>G
ENST00000645101.1:c.776T>G (SGCE) ENSP00000494975.1:p.Leu259Arg
ENST00000645109.1:c.695T>G (SGCE) ENSP00000495931.1:p.Leu232Arg
ENST00000645262.1:c.464T>G (SGCE) ENSP00000494164.1:p.Leu155Arg
ENST00000645390.1:n.641T>G (SGCE)
ENST00000645445.1:c.561T>G (SGCE)
ENST00000645535.1:c.314T>G (SGCE) ENSP00000493984.1:p.Leu105Arg
ENST00000645579.1:n.1507T>G (SGCE)
ENST00000645624.1:n.150T>G (SGCE)
ENST00000645725.1:c.668T>G (SGCE) ENSP00000495480.1:p.Leu223Arg
ENST00000645920.1:c.*394T>G (SGCE) ENSP00000494490.1:n.*394T>G
ENST00000646098.1:c.563T>G (SGCE) ENSP00000495591.1:p.Leu188Arg
ENST00000646119.1:c.561T>G (SGCE)
ENST00000646137.1:c.587T>G (SGCE) ENSP00000495199.1:p.Leu196Arg
ENST00000646265.1:c.676T>G (SGCE)
ENST00000646301.1:c.560T>G (SGCE)
ENST00000646434.1:c.836T>G (SGCE)
ENST00000646466.1:c.*517T>G (SGCE) ENSP00000493511.1:n.*517T>G
ENST00000646489.1:c.695T>G (SGCE) ENSP00000496268.1:p.Leu232Arg
ENST00000646559.1:c.*517T>G (SGCE) ENSP00000495838.1:n.*517T>G
ENST00000646600.1:c.*517T>G (SGCE) ENSP00000494041.1:n.*517T>G
ENST00000646682.1:c.*270+4492T>G (SGCE) ENSP00000496461.1:n.*270+4492T>G
ENST00000646879.1:c.587T>G (SGCE) ENSP00000495209.1:p.Leu196Arg
ENST00000646910.1:n.620T>G (SGCE)
ENST00000646943.1:c.587T>G (SGCE) ENSP00000494666.1:p.Leu196Arg
ENST00000647018.1:c.695T>G (SGCE) ENSP00000493722.1:p.Leu232Arg
ENST00000647031.1:n.3201T>G (SGCE)
ENST00000647048.1:c.411T>G (SGCE)
ENST00000647096.1:c.695T>G (SGCE) ENSP00000494192.1:p.Leu232Arg
ENST00000647110.1:c.593T>G (SGCE) ENSP00000494738.1:p.Leu198Arg
ENST00000647334.1:c.693T>G (SGCE)
ENST00000647351.1:c.668T>G (SGCE) ENSP00000494556.1:p.Leu223Arg
ENST00000647533.1:n.1286T>G (SGCE)
ENST00000648936.2:c.587T>G (SGCE) MANE Select ENSP00000497130.1:p.Leu196Arg
ENST00000265735.11:c.587T>G (SGCE) ENSP00000265735.6:p.Leu196Arg
ENST00000415788.2:c.695T>G (SGCE) ENSP00000405313.2:p.Leu232Arg
ENST00000428696.6:c.587T>G (SGCE) ENSP00000397536.2:p.Leu196Arg
ENST00000437425.6:c.464T>G (SGCE) ENSP00000394061.2:p.Leu155Arg
ENST00000445866.6:c.587T>G (SGCE) ENSP00000398930.2:p.Leu196Arg
ENST00000447873.5:c.587T>G (SGCE) ENSP00000388734.1:p.Leu196Arg
ENST00000450385.5:c.*625T>G (SGCE) ENSP00000398344.1:n.*625T>G
NM_001099400.1:c.587T>G (SGCE) NP_001092870.1:p.Leu196Arg
NM_001099401.1:c.587T>G (SGCE) NP_001092871.1:p.Leu196Arg
NM_001301139.1:c.464T>G (SGCE) NP_001288068.1:p.Leu155Arg
NM_003919.2:c.587T>G (SGCE) NP_003910.1:p.Leu196Arg
XM_005250675.3:c.695T>G (SGCE) XP_005250732.1:p.Leu232Arg
XM_005250677.3:c.695T>G (SGCE) XP_005250734.1:p.Leu232Arg
XM_011516495.1:c.2128-12483A>C (CASD1) XP_011514797.1:n.2128-12483A>C
XM_011516663.1:c.695T>G (SGCE) XP_011514965.1:p.Leu232Arg
XM_011516664.1:c.695T>G (SGCE) XP_011514966.1:p.Leu232Arg
XM_011516665.1:c.587T>G (SGCE) XP_011514967.1:p.Leu196Arg
XM_011516666.1:c.587T>G (SGCE) XP_011514968.1:p.Leu196Arg
XM_011516667.1:c.500T>G (SGCE) XP_011514969.1:p.Leu167Arg
XM_011516668.1:c.464T>G (SGCE) XP_011514970.1:p.Leu155Arg
XM_011516669.1:c.314T>G (SGCE) XP_011514971.1:p.Leu105Arg
NM_001346713.1:c.695T>G (SGCE) NP_001333642.1:p.Leu232Arg
NM_001346715.1:c.695T>G (SGCE) NP_001333644.1:p.Leu232Arg
NM_001346717.1:c.587T>G (SGCE) NP_001333646.1:p.Leu196Arg
NM_001346719.1:c.500T>G (SGCE) NP_001333648.1:p.Leu167Arg
NM_001346720.1:c.314T>G (SGCE) NP_001333649.1:p.Leu105Arg
NM_001362807.1:c.500T>G (SGCE) NP_001349736.1:p.Leu167Arg
NM_001362808.1:c.314T>G (SGCE) NP_001349737.1:p.Leu105Arg
NM_001362809.1:c.464T>G (SGCE) NP_001349738.1:p.Leu155Arg
XM_011516495.2:c.2128-12483A>C (CASD1) XP_011514797.1:n.2128-12483A>C
XM_011516663.2:c.695T>G (SGCE) XP_011514965.1:p.Leu232Arg
XM_011516664.2:c.695T>G (SGCE) XP_011514966.1:p.Leu232Arg
XM_011516665.3:c.587T>G (SGCE) XP_011514967.1:p.Leu196Arg
XM_011516666.3:c.587T>G (SGCE) XP_011514968.1:p.Leu196Arg
XM_011516667.2:c.500T>G (SGCE) XP_011514969.1:p.Leu167Arg
XM_011516669.3:c.314T>G (SGCE) XP_011514971.1:p.Leu105Arg
XM_017012763.1:c.500T>G (SGCE) XP_016868252.1:p.Leu167Arg
XM_017012767.1:c.314T>G (SGCE) XP_016868256.1:p.Leu105Arg
XM_024446985.1:c.464T>G (SGCE) XP_024302753.1:p.Leu155Arg
XM_024446986.1:c.464T>G (SGCE) XP_024302754.1:p.Leu155Arg
NM_001099400.2:c.587T>G (SGCE) NP_001092870.1:p.Leu196Arg
NM_001099401.2:c.587T>G (SGCE) NP_001092871.1:p.Leu196Arg
NM_001301139.2:c.464T>G (SGCE) NP_001288068.1:p.Leu155Arg
NM_001346713.2:c.695T>G (SGCE) NP_001333642.1:p.Leu232Arg
NM_001346715.2:c.695T>G (SGCE) NP_001333644.1:p.Leu232Arg
NM_001346717.2:c.587T>G (SGCE) NP_001333646.1:p.Leu196Arg
NM_001346719.2:c.500T>G (SGCE) NP_001333648.1:p.Leu167Arg
NM_001346720.2:c.314T>G (SGCE) NP_001333649.1:p.Leu105Arg
NM_001362807.2:c.500T>G (SGCE) NP_001349736.1:p.Leu167Arg
NM_001362808.2:c.314T>G (SGCE) NP_001349737.1:p.Leu105Arg
NM_001362809.2:c.464T>G (SGCE) NP_001349738.1:p.Leu155Arg
NM_003919.3:c.587T>G (SGCE) MANE Select NP_003910.1:p.Leu196Arg
Search 100 bp 5'
Search 100 bp 3'