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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088117G>C , CM000678.2:g.2088117G>C | GRCh38 |
| NC_000016.9:g.2138118G>C , CM000678.1:g.2138118G>C | GRCh37 |
| NC_000016.8:g.2078119G>C | NCBI36 |
| NG_005895.1:g.43812G>C , LRG_487:g.43812G>C | |
| NG_008617.1:g.55104C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3487G>C | ENSP00000455997.2:n.*3487G>C | |
| ENST00000642206.2:c.4985G>C | ENSP00000495146.2:p.Arg1662Pro | |
| ENST00000642365.2:c.5135G>C | ENSP00000495459.2:p.Arg1712Pro | |
| ENST00000644417.2:c.*5651G>C | ENSP00000493912.2:n.*5651G>C | |
| ENST00000646464.2:c.*7887G>C | ENSP00000496610.2:n.*7887G>C | |
| ENST00000219476.9:c.5138G>C MANE Select | ENSP00000219476.3:p.Arg1713Pro | |
| ENST00000350773.9:c.5069G>C | ENSP00000344383.4:p.Arg1690Pro | |
| ENST00000401874.7:c.4937G>C | ENSP00000384468.2:p.Arg1646Pro | |
| ENST00000568454.6:c.4970G>C | ENSP00000454487.1:p.Arg1657Pro | |
| ENST00000569110.2:c.1361G>C | ||
| ENST00000569930.2:n.3020G>C | ||
| ENST00000642365.1:c.3792G>C | ||
| ENST00000642561.1:c.5009G>C | ENSP00000495099.1:p.Arg1670Pro | |
| ENST00000642791.1:n.735G>C | ||
| ENST00000642797.1:c.4940G>C | ENSP00000493846.1:p.Arg1647Pro | |
| ENST00000642936.1:c.5006G>C | ENSP00000494514.1:p.Arg1669Pro | |
| ENST00000643088.1:c.4931G>C | ENSP00000494747.1:p.Arg1644Pro | |
| ENST00000643426.1:n.2786G>C | ||
| ENST00000643946.1:c.5063G>C | ENSP00000495927.1:p.Arg1688Pro | |
| ENST00000644043.1:c.5009G>C | ENSP00000496262.1:p.Arg1670Pro | |
| ENST00000644329.1:c.4937G>C | ENSP00000496611.1:p.Arg1646Pro | |
| ENST00000644335.1:c.4934G>C | ENSP00000496317.1:p.Arg1645Pro | |
| ENST00000644399.1:c.5059G>C | ||
| ENST00000645024.1:n.3222G>C | ||
| ENST00000646388.1:c.5132G>C | ENSP00000495921.1:p.Arg1711Pro | |
| ENST00000646634.1:n.3953G>C | ||
| ENST00000646674.1:n.2390G>C | ||
| ENST00000647042.1:n.2361G>C | ||
| ENST00000647180.1:n.2251G>C | ||
| ENST00000219476.7:c.5138G>C | ENSP00000219476.3:p.Arg1713Pro | |
| ENST00000350773.8:c.5069G>C | ENSP00000344383.4:p.Arg1690Pro | |
| ENST00000382538.10:c.4793G>C | ENSP00000371978.6:p.Arg1598Pro | |
| ENST00000401874.6:c.4937G>C | ENSP00000384468.2:p.Arg1646Pro | |
| ENST00000439117.6:c.*4305G>C | ENSP00000406980.2:n.*4305G>C | |
| ENST00000439673.6:c.4829G>C | ENSP00000399232.2:p.Arg1610Pro | |
| ENST00000497886.5:n.2861G>C | ||
| ENST00000568454.5:c.4970G>C | ENSP00000454487.1:p.Arg1657Pro | |
| ENST00000569110.1:c.1320G>C | ||
| ENST00000569930.1:n.2253G>C | ||
| NM_000548.3:c.5138G>C , LRG_487t1:c.5138G>C | NP_000539.2:p.Arg1713Pro | |
| NM_001077183.1:c.4937G>C | NP_001070651.1:p.Arg1646Pro | |
| NM_001114382.1:c.5069G>C | NP_001107854.1:p.Arg1690Pro | |
| XM_005255529.3:c.5009G>C | XP_005255586.2:p.Arg1670Pro | |
| XM_005255531.3:c.4940G>C | XP_005255588.2:p.Arg1647Pro | |
| XM_011522636.1:c.5192G>C | XP_011520938.1:p.Arg1731Pro | |
| XM_011522637.1:c.5189G>C | XP_011520939.1:p.Arg1730Pro | |
| XM_011522638.1:c.5081G>C | XP_011520940.1:p.Arg1694Pro | |
| XM_011522639.1:c.5063G>C | XP_011520941.1:p.Arg1688Pro | |
| XM_011522640.1:c.5060G>C | XP_011520942.1:p.Arg1687Pro | |
| XM_011522641.1:c.4829G>C | XP_011520943.1:p.Arg1610Pro | |
| NM_000548.4:c.5138G>C | NP_000539.2:p.Arg1713Pro | |
| NM_001077183.2:c.4937G>C | NP_001070651.1:p.Arg1646Pro | |
| NM_001114382.2:c.5069G>C | NP_001107854.1:p.Arg1690Pro | |
| NM_001318827.1:c.4829G>C | NP_001305756.1:p.Arg1610Pro | |
| NM_001318829.1:c.4793G>C | NP_001305758.1:p.Arg1598Pro | |
| NM_001318831.1:c.4406G>C | NP_001305760.1:p.Arg1469Pro | |
| NM_001318832.1:c.4970G>C | NP_001305761.1:p.Arg1657Pro | |
| NM_001363528.1:c.4940G>C | NP_001350457.1:p.Arg1647Pro | |
| NM_021055.2:c.5009G>C | NP_066399.2:p.Arg1670Pro | |
| XM_005255531.4:c.4940G>C | XP_005255588.2:p.Arg1647Pro | |
| XM_011522636.2:c.5192G>C | XP_011520938.1:p.Arg1731Pro | |
| XM_011522637.2:c.5189G>C | XP_011520939.1:p.Arg1730Pro | |
| XM_011522638.2:c.5354G>C | XP_011520940.2:p.Arg1785Pro | |
| XM_011522639.2:c.5063G>C | XP_011520941.1:p.Arg1688Pro | |
| XM_011522640.2:c.5060G>C | XP_011520942.1:p.Arg1687Pro | |
| XM_017023615.1:c.5135G>C | XP_016879104.1:p.Arg1712Pro | |
| XM_017023616.1:c.5006G>C | XP_016879105.1:p.Arg1669Pro | |
| XM_017023617.1:c.5102G>C | XP_016879106.1:p.Arg1701Pro | |
| XM_017023618.1:c.3848G>C | XP_016879107.1:p.Arg1283Pro | |
| XM_024450413.1:c.4937G>C | XP_024306181.1:p.Arg1646Pro | |
| NM_000548.5:c.5138G>C MANE Select | NP_000539.2:p.Arg1713Pro | |
| NM_001370404.1:c.5006G>C | NP_001357333.1:p.Arg1669Pro | |
| NM_001370405.1:c.5009G>C | NP_001357334.1:p.Arg1670Pro | |
| NM_001077183.3:c.4937G>C | NP_001070651.1:p.Arg1646Pro | |
| NM_001114382.3:c.5069G>C | NP_001107854.1:p.Arg1690Pro | |
| NM_001318827.2:c.4829G>C | NP_001305756.1:p.Arg1610Pro | |
| NM_001318829.2:c.4793G>C | NP_001305758.1:p.Arg1598Pro | |
| NM_001318831.2:c.4406G>C | NP_001305760.1:p.Arg1469Pro | |
| NM_001318832.2:c.4970G>C | NP_001305761.1:p.Arg1657Pro | |
| NM_001363528.2:c.4940G>C | NP_001350457.1:p.Arg1647Pro | |
| NM_021055.3:c.5009G>C | NP_066399.2:p.Arg1670Pro |