Canonical Allele Identifier: CA368232275
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94603382G>A , CM000669.2:g.94603382G>A GRCh38
NC_000007.13:g.94232694G>A , CM000669.1:g.94232694G>A GRCh37
NC_000007.12:g.94070630G>A NCBI36
NG_008893.1:g.57828C>T
NG_008893.2:g.57828C>T
NG_008893.3:g.58191C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415788.3:c.841C>T (SGCE) ENSP00000405313.2:p.Gln281Ter
ENST00000428696.7:c.712C>T (SGCE) ENSP00000397536.3:p.Gln238Ter
ENST00000437425.7:c.610C>T (SGCE) ENSP00000394061.2:p.Gln204Ter
ENST00000445866.7:c.733C>T (SGCE) ENSP00000398930.2:p.Gln245Ter
ENST00000447873.6:c.733C>T (SGCE) ENSP00000388734.1:p.Gln245Ter
ENST00000462731.2:n.278C>T (SGCE)
ENST00000642169.1:c.*115C>T (SGCE) ENSP00000496346.1:n.*115C>T
ENST00000642291.1:c.594C>T (SGCE)
ENST00000642353.1:n.704C>T (SGCE)
ENST00000642394.1:c.610C>T (SGCE) ENSP00000493751.1:p.Gln204Ter
ENST00000642441.1:c.814C>T (SGCE) ENSP00000495994.1:p.Gln272Ter
ENST00000642497.1:n.1506C>T (SGCE)
ENST00000642564.1:n.833C>T (SGCE)
ENST00000642638.1:c.*771C>T (SGCE) ENSP00000495555.1:n.*771C>T
ENST00000642707.1:c.841C>T (SGCE) ENSP00000495270.1:p.Gln281Ter
ENST00000642754.1:n.5605C>T (SGCE)
ENST00000642759.1:n.822C>T (SGCE)
ENST00000642802.1:n.555C>T (SGCE)
ENST00000642904.1:n.821C>T (SGCE)
ENST00000642933.1:c.733C>T (SGCE) ENSP00000496237.1:p.Gln245Ter
ENST00000643020.1:c.659C>T (SGCE)
ENST00000643041.1:c.733C>T (SGCE) ENSP00000495311.1:p.Gln245Ter
ENST00000643128.1:c.733C>T (SGCE) ENSP00000496678.1:p.Gln245Ter
ENST00000643193.1:c.733C>T (SGCE) ENSP00000496559.1:p.Gln245Ter
ENST00000643206.1:c.*314C>T (SGCE) ENSP00000496172.1:n.*314C>T
ENST00000643272.1:c.841C>T (SGCE) ENSP00000494488.1:p.Gln281Ter
ENST00000643324.1:n.1624C>T (SGCE)
ENST00000643491.1:n.661C>T (SGCE)
ENST00000643568.1:c.414C>T (SGCE)
ENST00000643605.1:c.*720C>T (SGCE) ENSP00000496480.1:n.*720C>T
ENST00000643610.1:c.733C>T (SGCE) ENSP00000494350.1:p.Gln245Ter
ENST00000643714.1:n.801C>T (SGCE)
ENST00000643903.1:c.733C>T (SGCE) ENSP00000495165.1:p.Gln245Ter
ENST00000643991.1:c.642C>T (SGCE)
ENST00000644087.1:c.*810C>T (SGCE) ENSP00000495249.1:n.*810C>T
ENST00000644116.1:c.733C>T (SGCE) ENSP00000495276.1:p.Gln245Ter
ENST00000644122.1:c.814C>T (SGCE) ENSP00000495236.1:p.Gln272Ter
ENST00000644201.1:c.516C>T (SGCE) ENSP00000495044.1:p.Ile172=
ENST00000644268.1:n.1353C>T (SGCE)
ENST00000644373.1:n.1769C>T (SGCE)
ENST00000644375.1:c.799C>T (SGCE) ENSP00000494315.1:p.Gln267Ter
ENST00000644533.1:n.1488C>T (SGCE)
ENST00000644551.1:c.814C>T (SGCE) ENSP00000493981.1:p.Gln272Ter
ENST00000644609.1:c.733C>T (SGCE) ENSP00000496045.1:p.Gln245Ter
ENST00000644639.1:c.*394C>T (SGCE) ENSP00000496391.1:n.*394C>T
ENST00000644658.1:c.297C>T (SGCE)
ENST00000644674.1:n.634C>T (SGCE)
ENST00000644681.1:c.460C>T (SGCE) ENSP00000496455.1:p.Gln154Ter
ENST00000644682.1:c.797C>T (SGCE)
ENST00000644816.1:c.733C>T (SGCE) ENSP00000494898.1:p.Gln245Ter
ENST00000644966.1:c.712C>T (SGCE) ENSP00000495105.1:n.712C>T
ENST00000645101.1:c.922C>T (SGCE) ENSP00000494975.1:p.Gln308Ter
ENST00000645109.1:c.841C>T (SGCE) ENSP00000495931.1:p.Gln281Ter
ENST00000645262.1:c.610C>T (SGCE) ENSP00000494164.1:p.Gln204Ter
ENST00000645445.1:c.707C>T (SGCE)
ENST00000645535.1:c.460C>T (SGCE) ENSP00000493984.1:p.Gln154Ter
ENST00000645579.1:n.1653C>T (SGCE)
ENST00000645624.1:n.296C>T (SGCE)
ENST00000645725.1:c.814C>T (SGCE) ENSP00000495480.1:p.Gln272Ter
ENST00000645920.1:c.*540C>T (SGCE) ENSP00000494490.1:n.*540C>T
ENST00000646098.1:c.709C>T (SGCE) ENSP00000495591.1:p.Gln237Ter
ENST00000646119.1:c.707C>T (SGCE)
ENST00000646137.1:c.733C>T (SGCE) ENSP00000495199.1:p.Gln245Ter
ENST00000646265.1:c.822C>T (SGCE)
ENST00000646301.1:c.706C>T (SGCE)
ENST00000646434.1:c.982C>T (SGCE)
ENST00000646466.1:c.*663C>T (SGCE) ENSP00000493511.1:n.*663C>T
ENST00000646489.1:c.841C>T (SGCE) ENSP00000496268.1:p.Gln281Ter
ENST00000646559.1:c.*663C>T (SGCE) ENSP00000495838.1:n.*663C>T
ENST00000646600.1:c.*663C>T (SGCE) ENSP00000494041.1:n.*663C>T
ENST00000646682.1:c.*341C>T (SGCE) ENSP00000496461.1:n.*341C>T
ENST00000646879.1:c.733C>T (SGCE) ENSP00000495209.1:p.Gln245Ter
ENST00000646910.1:n.766C>T (SGCE)
ENST00000646943.1:c.733C>T (SGCE) ENSP00000494666.1:p.Gln245Ter
ENST00000647018.1:c.841C>T (SGCE) ENSP00000493722.1:p.Gln281Ter
ENST00000647031.1:n.3347C>T (SGCE)
ENST00000647048.1:c.557C>T (SGCE)
ENST00000647096.1:c.841C>T (SGCE) ENSP00000494192.1:p.Gln281Ter
ENST00000647110.1:c.739C>T (SGCE) ENSP00000494738.1:p.Gln247Ter
ENST00000647334.1:c.839C>T (SGCE)
ENST00000647351.1:c.814C>T (SGCE) ENSP00000494556.1:p.Gln272Ter
ENST00000647533.1:n.1432C>T (SGCE)
ENST00000648936.2:c.733C>T (SGCE) MANE Select ENSP00000497130.1:p.Gln245Ter
ENST00000265735.11:c.733C>T (SGCE) ENSP00000265735.6:p.Gln245Ter
ENST00000415788.2:c.841C>T (SGCE) ENSP00000405313.2:p.Gln281Ter
ENST00000428696.6:c.733C>T (SGCE) ENSP00000397536.2:p.Gln245Ter
ENST00000437425.6:c.610C>T (SGCE) ENSP00000394061.2:p.Gln204Ter
ENST00000445866.6:c.733C>T (SGCE) ENSP00000398930.2:p.Gln245Ter
ENST00000447873.5:c.733C>T (SGCE) ENSP00000388734.1:p.Gln245Ter
ENST00000462731.1:n.26C>T (SGCE)
NM_001099400.1:c.733C>T (SGCE) NP_001092870.1:p.Gln245Ter
NM_001099401.1:c.733C>T (SGCE) NP_001092871.1:p.Gln245Ter
NM_001301139.1:c.610C>T (SGCE) NP_001288068.1:p.Gln204Ter
NM_003919.2:c.733C>T (SGCE) NP_003910.1:p.Gln245Ter
XM_005250675.3:c.841C>T (SGCE) XP_005250732.1:p.Gln281Ter
XM_005250677.3:c.841C>T (SGCE) XP_005250734.1:p.Gln281Ter
XM_011516495.1:c.2128-27934G>A (CASD1) XP_011514797.1:n.2128-27934G>A
XM_011516663.1:c.841C>T (SGCE) XP_011514965.1:p.Gln281Ter
XM_011516664.1:c.841C>T (SGCE) XP_011514966.1:p.Gln281Ter
XM_011516665.1:c.733C>T (SGCE) XP_011514967.1:p.Gln245Ter
XM_011516666.1:c.733C>T (SGCE) XP_011514968.1:p.Gln245Ter
XM_011516667.1:c.646C>T (SGCE) XP_011514969.1:p.Gln216Ter
XM_011516668.1:c.610C>T (SGCE) XP_011514970.1:p.Gln204Ter
XM_011516669.1:c.460C>T (SGCE) XP_011514971.1:p.Gln154Ter
NM_001346713.1:c.841C>T (SGCE) NP_001333642.1:p.Gln281Ter
NM_001346715.1:c.841C>T (SGCE) NP_001333644.1:p.Gln281Ter
NM_001346717.1:c.733C>T (SGCE) NP_001333646.1:p.Gln245Ter
NM_001346719.1:c.646C>T (SGCE) NP_001333648.1:p.Gln216Ter
NM_001346720.1:c.460C>T (SGCE) NP_001333649.1:p.Gln154Ter
NM_001362807.1:c.646C>T (SGCE) NP_001349736.1:p.Gln216Ter
NM_001362808.1:c.460C>T (SGCE) NP_001349737.1:p.Gln154Ter
NM_001362809.1:c.610C>T (SGCE) NP_001349738.1:p.Gln204Ter
XM_011516495.2:c.2128-27934G>A (CASD1) XP_011514797.1:n.2128-27934G>A
XM_011516663.2:c.841C>T (SGCE) XP_011514965.1:p.Gln281Ter
XM_011516664.2:c.841C>T (SGCE) XP_011514966.1:p.Gln281Ter
XM_011516665.3:c.733C>T (SGCE) XP_011514967.1:p.Gln245Ter
XM_011516666.3:c.733C>T (SGCE) XP_011514968.1:p.Gln245Ter
XM_011516667.2:c.646C>T (SGCE) XP_011514969.1:p.Gln216Ter
XM_011516669.3:c.460C>T (SGCE) XP_011514971.1:p.Gln154Ter
XM_017012763.1:c.646C>T (SGCE) XP_016868252.1:p.Gln216Ter
XM_017012767.1:c.460C>T (SGCE) XP_016868256.1:p.Gln154Ter
XM_024446985.1:c.610C>T (SGCE) XP_024302753.1:p.Gln204Ter
XM_024446986.1:c.610C>T (SGCE) XP_024302754.1:p.Gln204Ter
NM_001099400.2:c.733C>T (SGCE) NP_001092870.1:p.Gln245Ter
NM_001099401.2:c.733C>T (SGCE) NP_001092871.1:p.Gln245Ter
NM_001301139.2:c.610C>T (SGCE) NP_001288068.1:p.Gln204Ter
NM_001346713.2:c.841C>T (SGCE) NP_001333642.1:p.Gln281Ter
NM_001346715.2:c.841C>T (SGCE) NP_001333644.1:p.Gln281Ter
NM_001346717.2:c.733C>T (SGCE) NP_001333646.1:p.Gln245Ter
NM_001346719.2:c.646C>T (SGCE) NP_001333648.1:p.Gln216Ter
NM_001346720.2:c.460C>T (SGCE) NP_001333649.1:p.Gln154Ter
NM_001362807.2:c.646C>T (SGCE) NP_001349736.1:p.Gln216Ter
NM_001362808.2:c.460C>T (SGCE) NP_001349737.1:p.Gln154Ter
NM_001362809.2:c.610C>T (SGCE) NP_001349738.1:p.Gln204Ter
NM_003919.3:c.733C>T (SGCE) MANE Select NP_003910.1:p.Gln245Ter