Canonical Allele Identifier: CA368228916

Gene: SGCE CASD1

Linked Data

• gnomAD v4: 7-94598824-G-C
• MyVariant Identifiers: chr7:g.94228136G>C (hg19) ; chr7:g.94598824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94598824G>C , CM000669.2:g.94598824G>C	GRCh38
NC_000007.13:g.94228136G>C , CM000669.1:g.94228136G>C	GRCh37
NC_000007.12:g.94066072G>C	NCBI36
NG_008893.1:g.62386C>G
NG_008893.2:g.62386C>G
NG_008893.3:g.62749C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415788.3:c.1312C>G (SGCE)	ENSP00000405313.2:p.His438Asp
ENST00000428696.7:c.1156C>G (SGCE)	ENSP00000397536.3:p.His386Asp
ENST00000437425.7:c.1081C>G (SGCE)	ENSP00000394061.2:p.His361Asp
ENST00000445866.7:c.1204C>G (SGCE)	ENSP00000398930.2:p.His402Asp
ENST00000447873.6:c.1177C>G (SGCE)	ENSP00000388734.1:p.His393Asp
ENST00000642291.1:c.1139C>G (SGCE)
ENST00000642353.1:n.1175C>G (SGCE)
ENST00000642394.1:c.1054C>G (SGCE)	ENSP00000493751.1:p.His352Asp
ENST00000642441.1:c.1258C>G (SGCE)	ENSP00000495994.1:p.His420Asp
ENST00000642497.1:n.1950C>G (SGCE)
ENST00000642564.1:n.1304C>G (SGCE)
ENST00000642638.1:c.*1242C>G (SGCE)	ENSP00000495555.1:n.*1242C>G
ENST00000642707.1:c.1285C>G (SGCE)	ENSP00000495270.1:p.His429Asp
ENST00000642754.1:n.6076C>G (SGCE)
ENST00000642759.1:n.1266C>G (SGCE)
ENST00000642802.1:n.999C>G (SGCE)
ENST00000642904.1:n.1265C>G (SGCE)
ENST00000642933.1:c.1177C>G (SGCE)	ENSP00000496237.1:p.His393Asp
ENST00000643020.1:c.1130C>G (SGCE)
ENST00000643041.1:c.*165C>G (SGCE)	ENSP00000495311.1:n.*165C>G
ENST00000643128.1:c.1204C>G (SGCE)	ENSP00000496678.1:p.His402Asp
ENST00000643160.1:c.435C>G (SGCE)
ENST00000643193.1:c.1177C>G (SGCE)	ENSP00000496559.1:p.His393Asp
ENST00000643206.1:c.*785C>G (SGCE)	ENSP00000496172.1:n.*785C>G
ENST00000643272.1:c.1285C>G (SGCE)	ENSP00000494488.1:p.His429Asp
ENST00000643324.1:n.2095C>G (SGCE)
ENST00000643491.1:n.1105C>G (SGCE)
ENST00000643568.1:c.858C>G (SGCE)
ENST00000643605.1:c.*1164C>G (SGCE)	ENSP00000496480.1:n.*1164C>G
ENST00000643610.1:c.1204C>G (SGCE)	ENSP00000494350.1:p.His402Asp
ENST00000643714.1:n.1245C>G (SGCE)
ENST00000643903.1:c.1177C>G (SGCE)	ENSP00000495165.1:p.His393Asp
ENST00000643991.1:c.1086C>G (SGCE)
ENST00000644087.1:c.*1254C>G (SGCE)	ENSP00000495249.1:n.*1254C>G
ENST00000644116.1:c.1177C>G (SGCE)	ENSP00000495276.1:p.His393Asp
ENST00000644122.1:c.1285C>G (SGCE)	ENSP00000495236.1:p.His429Asp
ENST00000644268.1:n.1797C>G (SGCE)
ENST00000644373.1:n.2213C>G (SGCE)
ENST00000644375.1:c.1243C>G (SGCE)	ENSP00000494315.1:p.His415Asp
ENST00000644533.1:n.1959C>G (SGCE)
ENST00000644551.1:c.1285C>G (SGCE)	ENSP00000493981.1:p.His429Asp
ENST00000644609.1:c.1177C>G (SGCE)	ENSP00000496045.1:p.His393Asp
ENST00000644639.1:c.*838C>G (SGCE)	ENSP00000496391.1:n.*838C>G
ENST00000644658.1:c.556C>G (SGCE)
ENST00000644674.1:n.1105C>G (SGCE)
ENST00000644681.1:c.904C>G (SGCE)	ENSP00000496455.1:p.His302Asp
ENST00000644682.1:c.1241C>G (SGCE)
ENST00000644816.1:c.1204C>G (SGCE)	ENSP00000494898.1:p.His402Asp
ENST00000645101.1:c.1366C>G (SGCE)	ENSP00000494975.1:p.His456Asp
ENST00000645109.1:c.1312C>G (SGCE)	ENSP00000495931.1:p.His438Asp
ENST00000645262.1:c.1054C>G (SGCE)	ENSP00000494164.1:p.His352Asp
ENST00000645445.1:c.1151C>G (SGCE)
ENST00000645535.1:c.904C>G (SGCE)	ENSP00000493984.1:p.His302Asp
ENST00000645579.1:n.2097C>G (SGCE)
ENST00000645624.1:n.740C>G (SGCE)
ENST00000645665.1:n.423C>G (SGCE)
ENST00000645725.1:c.1258C>G (SGCE)	ENSP00000495480.1:p.His420Asp
ENST00000645804.1:c.56+873C>G (SGCE)	ENSP00000494688.1:n.56+873C>G
ENST00000646098.1:c.1180C>G (SGCE)	ENSP00000495591.1:p.His394Asp
ENST00000646119.1:c.1178C>G (SGCE)
ENST00000646137.1:c.1177C>G (SGCE)	ENSP00000495199.1:p.His393Asp
ENST00000646265.1:c.1266C>G (SGCE)
ENST00000646301.1:c.1150C>G (SGCE)
ENST00000646434.1:c.1426C>G (SGCE)
ENST00000646466.1:c.*1107C>G (SGCE)	ENSP00000493511.1:n.*1107C>G
ENST00000646489.1:c.1312C>G (SGCE)	ENSP00000496268.1:p.His438Asp
ENST00000646559.1:c.*1134C>G (SGCE)	ENSP00000495838.1:n.*1134C>G
ENST00000646600.1:c.*1107C>G (SGCE)	ENSP00000494041.1:n.*1107C>G
ENST00000646879.1:c.1177C>G (SGCE)	ENSP00000495209.1:p.His393Asp
ENST00000646910.1:n.1237C>G (SGCE)
ENST00000646943.1:c.1204C>G (SGCE)	ENSP00000494666.1:p.His402Asp
ENST00000647018.1:c.1312C>G (SGCE)	ENSP00000493722.1:p.His438Asp
ENST00000647031.1:n.3791C>G (SGCE)
ENST00000647048.1:c.1001C>G (SGCE)
ENST00000647096.1:c.1312C>G (SGCE)	ENSP00000494192.1:p.His438Asp
ENST00000647110.1:c.1183C>G (SGCE)	ENSP00000494738.1:p.His395Asp
ENST00000647334.1:c.1283C>G (SGCE)
ENST00000647351.1:c.1285C>G (SGCE)	ENSP00000494556.1:p.His429Asp
ENST00000647379.1:n.417C>G (SGCE)
ENST00000647533.1:n.2825C>G (SGCE)
ENST00000648936.2:c.1204C>G (SGCE) MANE Select	ENSP00000497130.1:p.His402Asp
ENST00000265735.11:c.1204C>G (SGCE)	ENSP00000265735.6:p.His402Asp
ENST00000415788.2:c.1312C>G (SGCE)	ENSP00000405313.2:p.His438Asp
ENST00000428696.6:c.1177C>G (SGCE)	ENSP00000397536.2:p.His393Asp
ENST00000437425.6:c.1081C>G (SGCE)	ENSP00000394061.2:p.His361Asp
ENST00000445866.6:c.1204C>G (SGCE)	ENSP00000398930.2:p.His402Asp
ENST00000447873.5:c.1177C>G (SGCE)	ENSP00000388734.1:p.His393Asp
ENST00000472326.2:n.314C>G (SGCE)
ENST00000522045.5:c.122+873C>G (SGCE)	ENSP00000431080.1:n.122+873C>G
NM_001099400.1:c.1177C>G (SGCE)	NP_001092870.1:p.His393Asp
NM_001099401.1:c.1204C>G (SGCE)	NP_001092871.1:p.His402Asp
NM_001301139.1:c.1081C>G (SGCE)	NP_001288068.1:p.His361Asp
NM_003919.2:c.1204C>G (SGCE)	NP_003910.1:p.His402Asp
XM_005250675.3:c.1312C>G (SGCE)	XP_005250732.1:p.His438Asp
XM_005250677.3:c.1285C>G (SGCE)	XP_005250734.1:p.His429Asp
XM_011516495.1:c.2128-32492G>C (CASD1)	XP_011514797.1:n.2128-32492G>C
XM_011516663.1:c.1312C>G (SGCE)	XP_011514965.1:p.His438Asp
XM_011516664.1:c.1285C>G (SGCE)	XP_011514966.1:p.His429Asp
XM_011516665.1:c.1204C>G (SGCE)	XP_011514967.1:p.His402Asp
XM_011516666.1:c.1177C>G (SGCE)	XP_011514968.1:p.His393Asp
XM_011516667.1:c.1117C>G (SGCE)	XP_011514969.1:p.His373Asp
XM_011516668.1:c.1081C>G (SGCE)	XP_011514970.1:p.His361Asp
XM_011516669.1:c.931C>G (SGCE)	XP_011514971.1:p.His311Asp
NM_001346713.1:c.1312C>G (SGCE)	NP_001333642.1:p.His438Asp
NM_001346715.1:c.1285C>G (SGCE)	NP_001333644.1:p.His429Asp
NM_001346717.1:c.1177C>G (SGCE)	NP_001333646.1:p.His393Asp
NM_001346719.1:c.1117C>G (SGCE)	NP_001333648.1:p.His373Asp
NM_001346720.1:c.931C>G (SGCE)	NP_001333649.1:p.His311Asp
NM_001362807.1:c.1090C>G (SGCE)	NP_001349736.1:p.His364Asp
NM_001362808.1:c.904C>G (SGCE)	NP_001349737.1:p.His302Asp
NM_001362809.1:c.1054C>G (SGCE)	NP_001349738.1:p.His352Asp
XM_011516495.2:c.2128-32492G>C (CASD1)	XP_011514797.1:n.2128-32492G>C
XM_011516663.2:c.1312C>G (SGCE)	XP_011514965.1:p.His438Asp
XM_011516664.2:c.1285C>G (SGCE)	XP_011514966.1:p.His429Asp
XM_011516665.3:c.1204C>G (SGCE)	XP_011514967.1:p.His402Asp
XM_011516666.3:c.1177C>G (SGCE)	XP_011514968.1:p.His393Asp
XM_011516667.2:c.1117C>G (SGCE)	XP_011514969.1:p.His373Asp
XM_011516669.3:c.931C>G (SGCE)	XP_011514971.1:p.His311Asp
XM_017012763.1:c.1117C>G (SGCE)	XP_016868252.1:p.His373Asp
XM_017012767.1:c.904C>G (SGCE)	XP_016868256.1:p.His302Asp
XM_024446985.1:c.1081C>G (SGCE)	XP_024302753.1:p.His361Asp
XM_024446986.1:c.1054C>G (SGCE)	XP_024302754.1:p.His352Asp
NM_001099400.2:c.1177C>G (SGCE)	NP_001092870.1:p.His393Asp
NM_001099401.2:c.1204C>G (SGCE)	NP_001092871.1:p.His402Asp
NM_001301139.2:c.1081C>G (SGCE)	NP_001288068.1:p.His361Asp
NM_001346713.2:c.1312C>G (SGCE)	NP_001333642.1:p.His438Asp
NM_001346715.2:c.1285C>G (SGCE)	NP_001333644.1:p.His429Asp
NM_001346717.2:c.1177C>G (SGCE)	NP_001333646.1:p.His393Asp
NM_001346719.2:c.1117C>G (SGCE)	NP_001333648.1:p.His373Asp
NM_001346720.2:c.931C>G (SGCE)	NP_001333649.1:p.His311Asp
NM_001362807.2:c.1090C>G (SGCE)	NP_001349736.1:p.His364Asp
NM_001362808.2:c.904C>G (SGCE)	NP_001349737.1:p.His302Asp
NM_001362809.2:c.1054C>G (SGCE)	NP_001349738.1:p.His352Asp
NM_003919.3:c.1204C>G (SGCE) MANE Select	NP_003910.1:p.His402Asp