Canonical Allele Identifier: CA10624422

Gene: SGCE CASD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94585398T>C , CM000669.2:g.94585398T>C	GRCh38
NC_000007.13:g.94214710T>C , CM000669.1:g.94214710T>C	GRCh37
NC_000007.12:g.94052646T>C	NCBI36
NG_008893.1:g.75812A>G
NG_008893.2:g.75812A>G
NG_008893.3:g.76175A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437425.7:c.*101A>G (SGCE)	ENSP00000394061.2:n.*101A>G
ENST00000445866.7:c.*101A>G (SGCE)	ENSP00000398930.2:n.*101A>G
ENST00000447873.6:c.*101A>G (SGCE)	ENSP00000388734.1:n.*101A>G
ENST00000642291.1:c.1350A>G (SGCE)
ENST00000642353.1:n.1677A>G (SGCE)
ENST00000642394.1:c.*101A>G (SGCE)	ENSP00000493751.1:n.*101A>G
ENST00000642441.1:c.*67A>G (SGCE)	ENSP00000495994.1:n.*67A>G
ENST00000642497.1:n.2196A>G (SGCE)
ENST00000642638.1:c.*1453A>G (SGCE)	ENSP00000495555.1:n.*1453A>G
ENST00000642707.1:c.*101A>G (SGCE)	ENSP00000495270.1:n.*101A>G
ENST00000642754.1:n.6243A>G (SGCE)
ENST00000642759.1:n.1733A>G (SGCE)
ENST00000642802.1:n.1245A>G (SGCE)
ENST00000642904.1:n.1767A>G (SGCE)
ENST00000642933.1:c.*67A>G (SGCE)	ENSP00000496237.1:n.*67A>G
ENST00000643041.1:c.*411A>G (SGCE)	ENSP00000495311.1:n.*411A>G
ENST00000643160.1:c.753A>G (SGCE)
ENST00000643206.1:c.*996A>G (SGCE)	ENSP00000496172.1:n.*996A>G
ENST00000643272.1:c.*101A>G (SGCE)	ENSP00000494488.1:n.*101A>G
ENST00000643324.1:n.2306A>G (SGCE)
ENST00000643491.1:n.2227A>G (SGCE)
ENST00000643568.1:c.1219A>G (SGCE)
ENST00000643605.1:c.*1375A>G (SGCE)	ENSP00000496480.1:n.*1375A>G
ENST00000643610.1:c.*216A>G (SGCE)	ENSP00000494350.1:n.*216A>G
ENST00000643714.1:n.2367A>G (SGCE)
ENST00000643991.1:c.1332A>G (SGCE)
ENST00000644087.1:c.*1500A>G (SGCE)	ENSP00000495249.1:n.*1500A>G
ENST00000644116.1:c.*67A>G (SGCE)	ENSP00000495276.1:n.*67A>G
ENST00000644122.1:c.*119A>G (SGCE)	ENSP00000495236.1:n.*119A>G
ENST00000644375.1:c.*67A>G (SGCE)	ENSP00000494315.1:n.*67A>G
ENST00000644533.1:n.2205A>G (SGCE)
ENST00000644551.1:c.*101A>G (SGCE)	ENSP00000493981.1:n.*101A>G
ENST00000644609.1:c.*67A>G (SGCE)	ENSP00000496045.1:n.*67A>G
ENST00000644639.1:c.*1084A>G (SGCE)	ENSP00000496391.1:n.*1084A>G
ENST00000644658.1:c.767A>G (SGCE)
ENST00000644674.1:n.1351A>G (SGCE)
ENST00000644681.1:c.*67A>G (SGCE)	ENSP00000496455.1:n.*67A>G
ENST00000644682.1:c.1452A>G (SGCE)
ENST00000644816.1:c.*67A>G (SGCE)	ENSP00000494898.1:n.*67A>G
ENST00000645101.1:c.*101A>G (SGCE)	ENSP00000494975.1:n.*101A>G
ENST00000645262.1:c.*67A>G (SGCE)	ENSP00000494164.1:n.*67A>G
ENST00000645445.1:c.1362A>G (SGCE)
ENST00000645535.1:c.*67A>G (SGCE)	ENSP00000493984.1:n.*67A>G
ENST00000645624.1:n.833+3291A>G (SGCE)
ENST00000645665.1:n.634A>G (SGCE)
ENST00000645725.1:c.*101A>G (SGCE)	ENSP00000495480.1:n.*101A>G
ENST00000645767.1:n.1486A>G (SGCE)
ENST00000645804.1:c.218A>G (SGCE)	ENSP00000494688.1:n.218A>G
ENST00000646098.1:c.*101A>G (SGCE)	ENSP00000495591.1:n.*101A>G
ENST00000646119.1:c.1461A>G (SGCE)
ENST00000646137.1:c.*119A>G (SGCE)	ENSP00000495199.1:n.*119A>G
ENST00000646265.1:c.1512A>G (SGCE)
ENST00000646434.1:c.1637A>G (SGCE)
ENST00000646466.1:c.*1428A>G (SGCE)	ENSP00000493511.1:n.*1428A>G
ENST00000646489.1:c.*101A>G (SGCE)	ENSP00000496268.1:n.*101A>G
ENST00000646559.1:c.*1345A>G (SGCE)	ENSP00000495838.1:n.*1345A>G
ENST00000646600.1:c.*1353A>G (SGCE)	ENSP00000494041.1:n.*1353A>G
ENST00000646910.1:n.2359A>G (SGCE)
ENST00000646943.1:c.*67A>G (SGCE)	ENSP00000494666.1:n.*67A>G
ENST00000647031.1:n.3958A>G (SGCE)
ENST00000647048.1:c.1284A>G (SGCE)
ENST00000647110.1:c.1429A>G (SGCE)	ENSP00000494738.1:n.1429A>G
ENST00000647351.1:c.*67A>G (SGCE)	ENSP00000494556.1:n.*67A>G
ENST00000647533.1:n.3071A>G (SGCE)
ENST00000648936.2:c.*101A>G (SGCE) MANE Select	ENSP00000497130.1:n.*101A>G
ENST00000265735.11:c.*101A>G (SGCE)	ENSP00000265735.6:n.*101A>G
ENST00000437425.6:c.*101A>G (SGCE)	ENSP00000394061.2:n.*101A>G
ENST00000445866.6:c.*101A>G (SGCE)	ENSP00000398930.2:n.*101A>G
ENST00000447873.5:c.*101A>G (SGCE)	ENSP00000388734.1:n.*101A>G
ENST00000522045.5:c.240A>G (SGCE)	ENSP00000431080.1:n.240A>G
NM_001099400.1:c.*67A>G (SGCE)	NP_001092870.1:n.*67A>G
NM_001099401.1:c.*101A>G (SGCE)	NP_001092871.1:n.*101A>G
NM_001301139.1:c.*101A>G (SGCE)	NP_001288068.1:n.*101A>G
NM_003919.2:c.*101A>G (SGCE)	NP_003910.1:n.*101A>G
XM_005250675.3:c.*101A>G (SGCE)	XP_005250732.1:n.*101A>G
XM_005250677.3:c.*101A>G (SGCE)	XP_005250734.1:n.*101A>G
XM_011516495.1:c.2127+30823T>C (CASD1)	XP_011514797.1:n.2127+30823T>C
NM_001346713.1:c.*101A>G (SGCE)	NP_001333642.1:n.*101A>G
NM_001346715.1:c.*101A>G (SGCE)	NP_001333644.1:n.*101A>G
NM_001346717.1:c.*101A>G (SGCE)	NP_001333646.1:n.*101A>G
NM_001346719.1:c.*101A>G (SGCE)	NP_001333648.1:n.*101A>G
NM_001346720.1:c.*101A>G (SGCE)	NP_001333649.1:n.*101A>G
NM_001362807.1:c.*101A>G (SGCE)	NP_001349736.1:n.*101A>G
NM_001362808.1:c.*101A>G (SGCE)	NP_001349737.1:n.*101A>G
NM_001362809.1:c.*101A>G (SGCE)	NP_001349738.1:n.*101A>G
XM_011516495.2:c.2127+30823T>C (CASD1)	XP_011514797.1:n.2127+30823T>C
NM_001099400.2:c.*67A>G (SGCE)	NP_001092870.1:n.*67A>G
NM_001099401.2:c.*101A>G (SGCE)	NP_001092871.1:n.*101A>G
NM_001301139.2:c.*101A>G (SGCE)	NP_001288068.1:n.*101A>G
NM_001346713.2:c.*101A>G (SGCE)	NP_001333642.1:n.*101A>G
NM_001346715.2:c.*101A>G (SGCE)	NP_001333644.1:n.*101A>G
NM_001346717.2:c.*101A>G (SGCE)	NP_001333646.1:n.*101A>G
NM_001346719.2:c.*101A>G (SGCE)	NP_001333648.1:n.*101A>G
NM_001346720.2:c.*101A>G (SGCE)	NP_001333649.1:n.*101A>G
NM_001362807.2:c.*101A>G (SGCE)	NP_001349736.1:n.*101A>G
NM_001362808.2:c.*101A>G (SGCE)	NP_001349737.1:n.*101A>G
NM_001362809.2:c.*101A>G (SGCE)	NP_001349738.1:n.*101A>G
NM_003919.3:c.*101A>G (SGCE) MANE Select	NP_003910.1:n.*101A>G