Canonical Allele Identifier: CA368231227

Gene: SGCE CASD1

Linked Data

• ClinVar Variation Id: 2014569
• ClinVar RCV Id: RCV002861562
• MyVariant Identifiers: chr7:g.94230124C>T (hg19) ; chr7:g.94600812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94600812C>T , CM000669.2:g.94600812C>T	GRCh38
NC_000007.13:g.94230124C>T , CM000669.1:g.94230124C>T	GRCh37
NC_000007.12:g.94068060C>T	NCBI36
NG_008893.1:g.60398G>A
NG_008893.2:g.60398G>A
NG_008893.3:g.60761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415788.3:c.979G>A (SGCE)	ENSP00000405313.2:p.Gly327Arg
ENST00000428696.7:c.850G>A (SGCE)	ENSP00000397536.3:p.Gly284Arg
ENST00000437425.7:c.748G>A (SGCE)	ENSP00000394061.2:p.Gly250Arg
ENST00000445866.7:c.871G>A (SGCE)	ENSP00000398930.2:p.Gly291Arg
ENST00000447873.6:c.871G>A (SGCE)	ENSP00000388734.1:p.Gly291Arg
ENST00000462731.2:n.416G>A (SGCE)
ENST00000642169.1:c.*253G>A (SGCE)	ENSP00000496346.1:n.*253G>A
ENST00000642291.1:c.732G>A (SGCE)
ENST00000642353.1:n.842G>A (SGCE)
ENST00000642394.1:c.748G>A (SGCE)	ENSP00000493751.1:p.Gly250Arg
ENST00000642441.1:c.952G>A (SGCE)	ENSP00000495994.1:p.Gly318Arg
ENST00000642497.1:n.1644G>A (SGCE)
ENST00000642564.1:n.971G>A (SGCE)
ENST00000642638.1:c.*909G>A (SGCE)	ENSP00000495555.1:n.*909G>A
ENST00000642707.1:c.979G>A (SGCE)	ENSP00000495270.1:p.Gly327Arg
ENST00000642754.1:n.5743G>A (SGCE)
ENST00000642759.1:n.960G>A (SGCE)
ENST00000642802.1:n.693G>A (SGCE)
ENST00000642904.1:n.959G>A (SGCE)
ENST00000642933.1:c.871G>A (SGCE)	ENSP00000496237.1:p.Gly291Arg
ENST00000643020.1:c.797G>A (SGCE)
ENST00000643041.1:c.871G>A (SGCE)	ENSP00000495311.1:p.Gly291Arg
ENST00000643128.1:c.871G>A (SGCE)	ENSP00000496678.1:p.Gly291Arg
ENST00000643160.1:c.102G>A (SGCE)
ENST00000643193.1:c.871G>A (SGCE)	ENSP00000496559.1:p.Gly291Arg
ENST00000643206.1:c.*452G>A (SGCE)	ENSP00000496172.1:n.*452G>A
ENST00000643272.1:c.979G>A (SGCE)	ENSP00000494488.1:p.Gly327Arg
ENST00000643324.1:n.1762G>A (SGCE)
ENST00000643491.1:n.799G>A (SGCE)
ENST00000643568.1:c.552G>A (SGCE)
ENST00000643605.1:c.*858G>A (SGCE)	ENSP00000496480.1:n.*858G>A
ENST00000643610.1:c.871G>A (SGCE)	ENSP00000494350.1:p.Gly291Arg
ENST00000643714.1:n.939G>A (SGCE)
ENST00000643903.1:c.871G>A (SGCE)	ENSP00000495165.1:p.Gly291Arg
ENST00000643991.1:c.780G>A (SGCE)
ENST00000644087.1:c.*948G>A (SGCE)	ENSP00000495249.1:n.*948G>A
ENST00000644116.1:c.871G>A (SGCE)	ENSP00000495276.1:p.Gly291Arg
ENST00000644122.1:c.952G>A (SGCE)	ENSP00000495236.1:p.Gly318Arg
ENST00000644201.1:c.654G>A (SGCE)	ENSP00000495044.1:n.654G>A
ENST00000644268.1:n.1491G>A (SGCE)
ENST00000644373.1:n.1907G>A (SGCE)
ENST00000644375.1:c.937G>A (SGCE)	ENSP00000494315.1:p.Gly313Arg
ENST00000644533.1:n.1626G>A (SGCE)
ENST00000644551.1:c.952G>A (SGCE)	ENSP00000493981.1:p.Gly318Arg
ENST00000644609.1:c.871G>A (SGCE)	ENSP00000496045.1:p.Gly291Arg
ENST00000644639.1:c.*532G>A (SGCE)	ENSP00000496391.1:n.*532G>A
ENST00000644658.1:c.390-1089G>A (SGCE)
ENST00000644674.1:n.772G>A (SGCE)
ENST00000644681.1:c.598G>A (SGCE)	ENSP00000496455.1:p.Gly200Arg
ENST00000644682.1:c.935G>A (SGCE)
ENST00000644816.1:c.871G>A (SGCE)	ENSP00000494898.1:p.Gly291Arg
ENST00000644966.1:c.850G>A (SGCE)	ENSP00000495105.1:n.850G>A
ENST00000645101.1:c.1060G>A (SGCE)	ENSP00000494975.1:p.Gly354Arg
ENST00000645109.1:c.979G>A (SGCE)	ENSP00000495931.1:p.Gly327Arg
ENST00000645262.1:c.748G>A (SGCE)	ENSP00000494164.1:p.Gly250Arg
ENST00000645445.1:c.845G>A (SGCE)
ENST00000645535.1:c.598G>A (SGCE)	ENSP00000493984.1:p.Gly200Arg
ENST00000645579.1:n.1791G>A (SGCE)
ENST00000645624.1:n.434G>A (SGCE)
ENST00000645725.1:c.952G>A (SGCE)	ENSP00000495480.1:p.Gly318Arg
ENST00000646098.1:c.847G>A (SGCE)	ENSP00000495591.1:p.Gly283Arg
ENST00000646119.1:c.845G>A (SGCE)
ENST00000646137.1:c.871G>A (SGCE)	ENSP00000495199.1:p.Gly291Arg
ENST00000646265.1:c.960G>A (SGCE)
ENST00000646301.1:c.844G>A (SGCE)
ENST00000646434.1:c.1120G>A (SGCE)
ENST00000646466.1:c.*801G>A (SGCE)	ENSP00000493511.1:n.*801G>A
ENST00000646489.1:c.979G>A (SGCE)	ENSP00000496268.1:p.Gly327Arg
ENST00000646559.1:c.*801G>A (SGCE)	ENSP00000495838.1:n.*801G>A
ENST00000646600.1:c.*801G>A (SGCE)	ENSP00000494041.1:n.*801G>A
ENST00000646682.1:c.*479G>A (SGCE)	ENSP00000496461.1:n.*479G>A
ENST00000646879.1:c.871G>A (SGCE)	ENSP00000495209.1:p.Gly291Arg
ENST00000646910.1:n.904G>A (SGCE)
ENST00000646943.1:c.871G>A (SGCE)	ENSP00000494666.1:p.Gly291Arg
ENST00000647018.1:c.979G>A (SGCE)	ENSP00000493722.1:p.Gly327Arg
ENST00000647031.1:n.3485G>A (SGCE)
ENST00000647048.1:c.695G>A (SGCE)
ENST00000647096.1:c.979G>A (SGCE)	ENSP00000494192.1:p.Gly327Arg
ENST00000647110.1:c.877G>A (SGCE)	ENSP00000494738.1:p.Gly293Arg
ENST00000647334.1:c.977G>A (SGCE)
ENST00000647351.1:c.952G>A (SGCE)	ENSP00000494556.1:p.Gly318Arg
ENST00000647379.1:n.84G>A (SGCE)
ENST00000647533.1:n.1570G>A (SGCE)
ENST00000648936.2:c.871G>A (SGCE) MANE Select	ENSP00000497130.1:p.Gly291Arg
ENST00000265735.11:c.871G>A (SGCE)	ENSP00000265735.6:p.Gly291Arg
ENST00000415788.2:c.979G>A (SGCE)	ENSP00000405313.2:p.Gly327Arg
ENST00000428696.6:c.871G>A (SGCE)	ENSP00000397536.2:p.Gly291Arg
ENST00000437425.6:c.748G>A (SGCE)	ENSP00000394061.2:p.Gly250Arg
ENST00000445866.6:c.871G>A (SGCE)	ENSP00000398930.2:p.Gly291Arg
ENST00000447873.5:c.871G>A (SGCE)	ENSP00000388734.1:p.Gly291Arg
ENST00000462731.1:n.164G>A (SGCE)
NM_001099400.1:c.871G>A (SGCE)	NP_001092870.1:p.Gly291Arg
NM_001099401.1:c.871G>A (SGCE)	NP_001092871.1:p.Gly291Arg
NM_001301139.1:c.748G>A (SGCE)	NP_001288068.1:p.Gly250Arg
NM_003919.2:c.871G>A (SGCE)	NP_003910.1:p.Gly291Arg
XM_005250675.3:c.979G>A (SGCE)	XP_005250732.1:p.Gly327Arg
XM_005250677.3:c.979G>A (SGCE)	XP_005250734.1:p.Gly327Arg
XM_011516495.1:c.2128-30504C>T (CASD1)	XP_011514797.1:n.2128-30504C>T
XM_011516663.1:c.979G>A (SGCE)	XP_011514965.1:p.Gly327Arg
XM_011516664.1:c.979G>A (SGCE)	XP_011514966.1:p.Gly327Arg
XM_011516665.1:c.871G>A (SGCE)	XP_011514967.1:p.Gly291Arg
XM_011516666.1:c.871G>A (SGCE)	XP_011514968.1:p.Gly291Arg
XM_011516667.1:c.784G>A (SGCE)	XP_011514969.1:p.Gly262Arg
XM_011516668.1:c.748G>A (SGCE)	XP_011514970.1:p.Gly250Arg
XM_011516669.1:c.598G>A (SGCE)	XP_011514971.1:p.Gly200Arg
NM_001346713.1:c.979G>A (SGCE)	NP_001333642.1:p.Gly327Arg
NM_001346715.1:c.979G>A (SGCE)	NP_001333644.1:p.Gly327Arg
NM_001346717.1:c.871G>A (SGCE)	NP_001333646.1:p.Gly291Arg
NM_001346719.1:c.784G>A (SGCE)	NP_001333648.1:p.Gly262Arg
NM_001346720.1:c.598G>A (SGCE)	NP_001333649.1:p.Gly200Arg
NM_001362807.1:c.784G>A (SGCE)	NP_001349736.1:p.Gly262Arg
NM_001362808.1:c.598G>A (SGCE)	NP_001349737.1:p.Gly200Arg
NM_001362809.1:c.748G>A (SGCE)	NP_001349738.1:p.Gly250Arg
XM_011516495.2:c.2128-30504C>T (CASD1)	XP_011514797.1:n.2128-30504C>T
XM_011516663.2:c.979G>A (SGCE)	XP_011514965.1:p.Gly327Arg
XM_011516664.2:c.979G>A (SGCE)	XP_011514966.1:p.Gly327Arg
XM_011516665.3:c.871G>A (SGCE)	XP_011514967.1:p.Gly291Arg
XM_011516666.3:c.871G>A (SGCE)	XP_011514968.1:p.Gly291Arg
XM_011516667.2:c.784G>A (SGCE)	XP_011514969.1:p.Gly262Arg
XM_011516669.3:c.598G>A (SGCE)	XP_011514971.1:p.Gly200Arg
XM_017012763.1:c.784G>A (SGCE)	XP_016868252.1:p.Gly262Arg
XM_017012767.1:c.598G>A (SGCE)	XP_016868256.1:p.Gly200Arg
XM_024446985.1:c.748G>A (SGCE)	XP_024302753.1:p.Gly250Arg
XM_024446986.1:c.748G>A (SGCE)	XP_024302754.1:p.Gly250Arg
NM_001099400.2:c.871G>A (SGCE)	NP_001092870.1:p.Gly291Arg
NM_001099401.2:c.871G>A (SGCE)	NP_001092871.1:p.Gly291Arg
NM_001301139.2:c.748G>A (SGCE)	NP_001288068.1:p.Gly250Arg
NM_001346713.2:c.979G>A (SGCE)	NP_001333642.1:p.Gly327Arg
NM_001346715.2:c.979G>A (SGCE)	NP_001333644.1:p.Gly327Arg
NM_001346717.2:c.871G>A (SGCE)	NP_001333646.1:p.Gly291Arg
NM_001346719.2:c.784G>A (SGCE)	NP_001333648.1:p.Gly262Arg
NM_001346720.2:c.598G>A (SGCE)	NP_001333649.1:p.Gly200Arg
NM_001362807.2:c.784G>A (SGCE)	NP_001349736.1:p.Gly262Arg
NM_001362808.2:c.598G>A (SGCE)	NP_001349737.1:p.Gly200Arg
NM_001362809.2:c.748G>A (SGCE)	NP_001349738.1:p.Gly250Arg
NM_003919.3:c.871G>A (SGCE) MANE Select	NP_003910.1:p.Gly291Arg