UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
MyVariant Identifiers:
chr7:g.94230122T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94600810T>C , CM000669.2:g.94600810T>C | GRCh38 |
| NC_000007.13:g.94230122T>C , CM000669.1:g.94230122T>C | GRCh37 |
| NC_000007.12:g.94068058T>C | NCBI36 |
| NG_008893.1:g.60400A>G | |
| NG_008893.2:g.60400A>G | |
| NG_008893.3:g.60763A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415788.3:c.981A>G (SGCE) | ENSP00000405313.2:p.Gly327= | |
| ENST00000428696.7:c.852A>G (SGCE) | ENSP00000397536.3:p.Gly284= | |
| ENST00000437425.7:c.750A>G (SGCE) | ENSP00000394061.2:p.Gly250= | |
| ENST00000445866.7:c.873A>G (SGCE) | ENSP00000398930.2:p.Gly291= | |
| ENST00000447873.6:c.873A>G (SGCE) | ENSP00000388734.1:p.Gly291= | |
| ENST00000462731.2:n.418A>G (SGCE) | ||
| ENST00000642169.1:c.*255A>G (SGCE) | ENSP00000496346.1:n.*255A>G | |
| ENST00000642291.1:c.734A>G (SGCE) | ||
| ENST00000642353.1:n.844A>G (SGCE) | ||
| ENST00000642394.1:c.750A>G (SGCE) | ENSP00000493751.1:p.Gly250= | |
| ENST00000642441.1:c.954A>G (SGCE) | ENSP00000495994.1:p.Gly318= | |
| ENST00000642497.1:n.1646A>G (SGCE) | ||
| ENST00000642564.1:n.973A>G (SGCE) | ||
| ENST00000642638.1:c.*911A>G (SGCE) | ENSP00000495555.1:n.*911A>G | |
| ENST00000642707.1:c.981A>G (SGCE) | ENSP00000495270.1:p.Gly327= | |
| ENST00000642754.1:n.5745A>G (SGCE) | ||
| ENST00000642759.1:n.962A>G (SGCE) | ||
| ENST00000642802.1:n.695A>G (SGCE) | ||
| ENST00000642904.1:n.961A>G (SGCE) | ||
| ENST00000642933.1:c.873A>G (SGCE) | ENSP00000496237.1:p.Gly291= | |
| ENST00000643020.1:c.799A>G (SGCE) | ||
| ENST00000643041.1:c.873A>G (SGCE) | ENSP00000495311.1:p.Gly291= | |
| ENST00000643128.1:c.873A>G (SGCE) | ENSP00000496678.1:p.Gly291= | |
| ENST00000643160.1:c.104A>G (SGCE) | ||
| ENST00000643193.1:c.873A>G (SGCE) | ENSP00000496559.1:p.Gly291= | |
| ENST00000643206.1:c.*454A>G (SGCE) | ENSP00000496172.1:n.*454A>G | |
| ENST00000643272.1:c.981A>G (SGCE) | ENSP00000494488.1:p.Gly327= | |
| ENST00000643324.1:n.1764A>G (SGCE) | ||
| ENST00000643491.1:n.801A>G (SGCE) | ||
| ENST00000643568.1:c.554A>G (SGCE) | ||
| ENST00000643605.1:c.*860A>G (SGCE) | ENSP00000496480.1:n.*860A>G | |
| ENST00000643610.1:c.873A>G (SGCE) | ENSP00000494350.1:p.Gly291= | |
| ENST00000643714.1:n.941A>G (SGCE) | ||
| ENST00000643903.1:c.873A>G (SGCE) | ENSP00000495165.1:p.Gly291= | |
| ENST00000643991.1:c.782A>G (SGCE) | ||
| ENST00000644087.1:c.*950A>G (SGCE) | ENSP00000495249.1:n.*950A>G | |
| ENST00000644116.1:c.873A>G (SGCE) | ENSP00000495276.1:p.Gly291= | |
| ENST00000644122.1:c.954A>G (SGCE) | ENSP00000495236.1:p.Gly318= | |
| ENST00000644201.1:c.656A>G (SGCE) | ENSP00000495044.1:n.656A>G | |
| ENST00000644268.1:n.1493A>G (SGCE) | ||
| ENST00000644373.1:n.1909A>G (SGCE) | ||
| ENST00000644375.1:c.939A>G (SGCE) | ENSP00000494315.1:p.Gly313= | |
| ENST00000644533.1:n.1628A>G (SGCE) | ||
| ENST00000644551.1:c.954A>G (SGCE) | ENSP00000493981.1:p.Gly318= | |
| ENST00000644609.1:c.873A>G (SGCE) | ENSP00000496045.1:p.Gly291= | |
| ENST00000644639.1:c.*534A>G (SGCE) | ENSP00000496391.1:n.*534A>G | |
| ENST00000644658.1:c.390-1087A>G (SGCE) | ||
| ENST00000644674.1:n.774A>G (SGCE) | ||
| ENST00000644681.1:c.600A>G (SGCE) | ENSP00000496455.1:p.Gly200= | |
| ENST00000644682.1:c.937A>G (SGCE) | ||
| ENST00000644816.1:c.873A>G (SGCE) | ENSP00000494898.1:p.Gly291= | |
| ENST00000644966.1:c.852A>G (SGCE) | ENSP00000495105.1:n.852A>G | |
| ENST00000645101.1:c.1062A>G (SGCE) | ENSP00000494975.1:p.Gly354= | |
| ENST00000645109.1:c.981A>G (SGCE) | ENSP00000495931.1:p.Gly327= | |
| ENST00000645262.1:c.750A>G (SGCE) | ENSP00000494164.1:p.Gly250= | |
| ENST00000645445.1:c.847A>G (SGCE) | ||
| ENST00000645535.1:c.600A>G (SGCE) | ENSP00000493984.1:p.Gly200= | |
| ENST00000645579.1:n.1793A>G (SGCE) | ||
| ENST00000645624.1:n.436A>G (SGCE) | ||
| ENST00000645725.1:c.954A>G (SGCE) | ENSP00000495480.1:p.Gly318= | |
| ENST00000646098.1:c.849A>G (SGCE) | ENSP00000495591.1:p.Gly283= | |
| ENST00000646119.1:c.847A>G (SGCE) | ||
| ENST00000646137.1:c.873A>G (SGCE) | ENSP00000495199.1:p.Gly291= | |
| ENST00000646265.1:c.962A>G (SGCE) | ||
| ENST00000646301.1:c.846A>G (SGCE) | ||
| ENST00000646434.1:c.1122A>G (SGCE) | ||
| ENST00000646466.1:c.*803A>G (SGCE) | ENSP00000493511.1:n.*803A>G | |
| ENST00000646489.1:c.981A>G (SGCE) | ENSP00000496268.1:p.Gly327= | |
| ENST00000646559.1:c.*803A>G (SGCE) | ENSP00000495838.1:n.*803A>G | |
| ENST00000646600.1:c.*803A>G (SGCE) | ENSP00000494041.1:n.*803A>G | |
| ENST00000646682.1:c.*481A>G (SGCE) | ENSP00000496461.1:n.*481A>G | |
| ENST00000646879.1:c.873A>G (SGCE) | ENSP00000495209.1:p.Gly291= | |
| ENST00000646910.1:n.906A>G (SGCE) | ||
| ENST00000646943.1:c.873A>G (SGCE) | ENSP00000494666.1:p.Gly291= | |
| ENST00000647018.1:c.981A>G (SGCE) | ENSP00000493722.1:p.Gly327= | |
| ENST00000647031.1:n.3487A>G (SGCE) | ||
| ENST00000647048.1:c.697A>G (SGCE) | ||
| ENST00000647096.1:c.981A>G (SGCE) | ENSP00000494192.1:p.Gly327= | |
| ENST00000647110.1:c.879A>G (SGCE) | ENSP00000494738.1:p.Gly293= | |
| ENST00000647334.1:c.979A>G (SGCE) | ||
| ENST00000647351.1:c.954A>G (SGCE) | ENSP00000494556.1:p.Gly318= | |
| ENST00000647379.1:n.86A>G (SGCE) | ||
| ENST00000647533.1:n.1572A>G (SGCE) | ||
| ENST00000648936.2:c.873A>G (SGCE) MANE Select | ENSP00000497130.1:p.Gly291= | |
| ENST00000265735.11:c.873A>G (SGCE) | ENSP00000265735.6:p.Gly291= | |
| ENST00000415788.2:c.981A>G (SGCE) | ENSP00000405313.2:p.Gly327= | |
| ENST00000428696.6:c.873A>G (SGCE) | ENSP00000397536.2:p.Gly291= | |
| ENST00000437425.6:c.750A>G (SGCE) | ENSP00000394061.2:p.Gly250= | |
| ENST00000445866.6:c.873A>G (SGCE) | ENSP00000398930.2:p.Gly291= | |
| ENST00000447873.5:c.873A>G (SGCE) | ENSP00000388734.1:p.Gly291= | |
| ENST00000462731.1:n.166A>G (SGCE) | ||
| NM_001099400.1:c.873A>G (SGCE) | NP_001092870.1:p.Gly291= | |
| NM_001099401.1:c.873A>G (SGCE) | NP_001092871.1:p.Gly291= | |
| NM_001301139.1:c.750A>G (SGCE) | NP_001288068.1:p.Gly250= | |
| NM_003919.2:c.873A>G (SGCE) | NP_003910.1:p.Gly291= | |
| XM_005250675.3:c.981A>G (SGCE) | XP_005250732.1:p.Gly327= | |
| XM_005250677.3:c.981A>G (SGCE) | XP_005250734.1:p.Gly327= | |
| XM_011516495.1:c.2128-30506T>C (CASD1) | XP_011514797.1:n.2128-30506T>C | |
| XM_011516663.1:c.981A>G (SGCE) | XP_011514965.1:p.Gly327= | |
| XM_011516664.1:c.981A>G (SGCE) | XP_011514966.1:p.Gly327= | |
| XM_011516665.1:c.873A>G (SGCE) | XP_011514967.1:p.Gly291= | |
| XM_011516666.1:c.873A>G (SGCE) | XP_011514968.1:p.Gly291= | |
| XM_011516667.1:c.786A>G (SGCE) | XP_011514969.1:p.Gly262= | |
| XM_011516668.1:c.750A>G (SGCE) | XP_011514970.1:p.Gly250= | |
| XM_011516669.1:c.600A>G (SGCE) | XP_011514971.1:p.Gly200= | |
| NM_001346713.1:c.981A>G (SGCE) | NP_001333642.1:p.Gly327= | |
| NM_001346715.1:c.981A>G (SGCE) | NP_001333644.1:p.Gly327= | |
| NM_001346717.1:c.873A>G (SGCE) | NP_001333646.1:p.Gly291= | |
| NM_001346719.1:c.786A>G (SGCE) | NP_001333648.1:p.Gly262= | |
| NM_001346720.1:c.600A>G (SGCE) | NP_001333649.1:p.Gly200= | |
| NM_001362807.1:c.786A>G (SGCE) | NP_001349736.1:p.Gly262= | |
| NM_001362808.1:c.600A>G (SGCE) | NP_001349737.1:p.Gly200= | |
| NM_001362809.1:c.750A>G (SGCE) | NP_001349738.1:p.Gly250= | |
| XM_011516495.2:c.2128-30506T>C (CASD1) | XP_011514797.1:n.2128-30506T>C | |
| XM_011516663.2:c.981A>G (SGCE) | XP_011514965.1:p.Gly327= | |
| XM_011516664.2:c.981A>G (SGCE) | XP_011514966.1:p.Gly327= | |
| XM_011516665.3:c.873A>G (SGCE) | XP_011514967.1:p.Gly291= | |
| XM_011516666.3:c.873A>G (SGCE) | XP_011514968.1:p.Gly291= | |
| XM_011516667.2:c.786A>G (SGCE) | XP_011514969.1:p.Gly262= | |
| XM_011516669.3:c.600A>G (SGCE) | XP_011514971.1:p.Gly200= | |
| XM_017012763.1:c.786A>G (SGCE) | XP_016868252.1:p.Gly262= | |
| XM_017012767.1:c.600A>G (SGCE) | XP_016868256.1:p.Gly200= | |
| XM_024446985.1:c.750A>G (SGCE) | XP_024302753.1:p.Gly250= | |
| XM_024446986.1:c.750A>G (SGCE) | XP_024302754.1:p.Gly250= | |
| NM_001099400.2:c.873A>G (SGCE) | NP_001092870.1:p.Gly291= | |
| NM_001099401.2:c.873A>G (SGCE) | NP_001092871.1:p.Gly291= | |
| NM_001301139.2:c.750A>G (SGCE) | NP_001288068.1:p.Gly250= | |
| NM_001346713.2:c.981A>G (SGCE) | NP_001333642.1:p.Gly327= | |
| NM_001346715.2:c.981A>G (SGCE) | NP_001333644.1:p.Gly327= | |
| NM_001346717.2:c.873A>G (SGCE) | NP_001333646.1:p.Gly291= | |
| NM_001346719.2:c.786A>G (SGCE) | NP_001333648.1:p.Gly262= | |
| NM_001346720.2:c.600A>G (SGCE) | NP_001333649.1:p.Gly200= | |
| NM_001362807.2:c.786A>G (SGCE) | NP_001349736.1:p.Gly262= | |
| NM_001362808.2:c.600A>G (SGCE) | NP_001349737.1:p.Gly200= | |
| NM_001362809.2:c.750A>G (SGCE) | NP_001349738.1:p.Gly250= | |
| NM_003919.3:c.873A>G (SGCE) MANE Select | NP_003910.1:p.Gly291= |