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.2079070C= , CM000678.2:g.2079070C= | GRCh38 |
| NC_000016.9:g.2129071C= , CM000678.1:g.2129071C= | GRCh37 |
| NC_000016.8:g.2069072C= | NCBI36 |
| NG_005895.1:g.34765C= , LRG_487:g.34765C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*1423C= | ENSP00000455997.2:n.*1423C= | |
| ENST00000642206.2:c.2921C= | ENSP00000495146.2:p.Ser974= | |
| ENST00000642365.2:c.3002C= | ENSP00000495459.2:p.Ser1001= | |
| ENST00000644417.2:c.*3454C= | ENSP00000493912.2:n.*3454C= | |
| ENST00000646464.2:c.*3927C= | ENSP00000496610.2:n.*3927C= | |
| ENST00000219476.9:c.3005C= MANE Select | ENSP00000219476.3:p.Ser1002= | |
| ENST00000350773.9:c.3005C= | ENSP00000344383.4:p.Ser1002= | |
| ENST00000401874.7:c.2873C= | ENSP00000384468.2:p.Ser958= | |
| ENST00000471143.6:c.233C= | ENSP00000458541.2:n.233C= | |
| ENST00000568366.6:n.362C= | ||
| ENST00000568454.6:c.2906C= | ENSP00000454487.1:p.Ser969= | |
| ENST00000642365.1:c.1659C= | ||
| ENST00000642561.1:c.2876C= | ENSP00000495099.1:p.Ser959= | |
| ENST00000642797.1:c.2876C= | ENSP00000493846.1:p.Ser959= | |
| ENST00000642936.1:c.2873C= | ENSP00000494514.1:p.Ser958= | |
| ENST00000643088.1:c.2873C= | ENSP00000494747.1:p.Ser958= | |
| ENST00000643946.1:c.3005C= | ENSP00000495927.1:p.Ser1002= | |
| ENST00000644043.1:c.2876C= | ENSP00000496262.1:p.Ser959= | |
| ENST00000644329.1:c.2873C= | ENSP00000496611.1:p.Ser958= | |
| ENST00000644335.1:c.2876C= | ENSP00000496317.1:p.Ser959= | |
| ENST00000644399.1:c.2995C= | ||
| ENST00000644722.1:n.151C= | ||
| ENST00000645024.1:n.1158C= | ||
| ENST00000646388.1:c.3005C= | ENSP00000495921.1:p.Ser1002= | |
| ENST00000646634.1:n.1889C= | ||
| ENST00000647042.1:n.297C= | ||
| ENST00000219476.7:c.3005C= | ENSP00000219476.3:p.Ser1002= | |
| ENST00000350773.8:c.3005C= | ENSP00000344383.4:p.Ser1002= | |
| ENST00000382538.10:c.2729C= | ENSP00000371978.6:p.Ser910= | |
| ENST00000401874.6:c.2873C= | ENSP00000384468.2:p.Ser958= | |
| ENST00000439117.6:c.*2172C= | ENSP00000406980.2:n.*2172C= | |
| ENST00000439673.6:c.2765C= | ENSP00000399232.2:p.Ser922= | |
| ENST00000471143.5:c.231C= | ||
| ENST00000483020.5:c.245C= | ENSP00000460310.1:n.245C= | |
| ENST00000497886.5:n.832C= | ||
| ENST00000561695.1:n.151C= | ||
| ENST00000568366.5:n.362C= | ||
| ENST00000568454.5:c.2906C= | ENSP00000454487.1:p.Ser969= | |
| NM_000548.3:c.3005C= , LRG_487t1:c.3005C= | NP_000539.2:p.Ser1002= | |
| NM_001077183.1:c.2873C= | NP_001070651.1:p.Ser958= | |
| NM_001114382.1:c.3005C= | NP_001107854.1:p.Ser1002= | |
| XM_005255529.3:c.2876C= | XP_005255586.2:p.Ser959= | |
| XM_005255531.3:c.2876C= | XP_005255588.2:p.Ser959= | |
| XM_011522636.1:c.3005C= | XP_011520938.1:p.Ser1002= | |
| XM_011522637.1:c.3002C= | XP_011520939.1:p.Ser1001= | |
| XM_011522638.1:c.2894C= | XP_011520940.1:p.Ser965= | |
| XM_011522639.1:c.2876C= | XP_011520941.1:p.Ser959= | |
| XM_011522640.1:c.2873C= | XP_011520942.1:p.Ser958= | |
| XM_011522641.1:c.2765C= | XP_011520943.1:p.Ser922= | |
| NM_000548.4:c.3005C= | NP_000539.2:p.Ser1002= | |
| NM_001077183.2:c.2873C= | NP_001070651.1:p.Ser958= | |
| NM_001114382.2:c.3005C= | NP_001107854.1:p.Ser1002= | |
| NM_001318827.1:c.2765C= | NP_001305756.1:p.Ser922= | |
| NM_001318829.1:c.2729C= | NP_001305758.1:p.Ser910= | |
| NM_001318831.1:c.2273C= | NP_001305760.1:p.Ser758= | |
| NM_001318832.1:c.2906C= | NP_001305761.1:p.Ser969= | |
| NM_001363528.1:c.2876C= | NP_001350457.1:p.Ser959= | |
| NM_021055.2:c.2876C= | NP_066399.2:p.Ser959= | |
| XM_005255531.4:c.2876C= | XP_005255588.2:p.Ser959= | |
| XM_011522636.2:c.3005C= | XP_011520938.1:p.Ser1002= | |
| XM_011522637.2:c.3002C= | XP_011520939.1:p.Ser1001= | |
| XM_011522638.2:c.3167C= | XP_011520940.2:p.Ser1056= | |
| XM_011522639.2:c.2876C= | XP_011520941.1:p.Ser959= | |
| XM_011522640.2:c.2873C= | XP_011520942.1:p.Ser958= | |
| XM_017023615.1:c.3002C= | XP_016879104.1:p.Ser1001= | |
| XM_017023616.1:c.2873C= | XP_016879105.1:p.Ser958= | |
| XM_017023617.1:c.3038C= | XP_016879106.1:p.Ser1013= | |
| XM_017023618.1:c.1661C= | XP_016879107.1:p.Ser554= | |
| XM_024450413.1:c.2873C= | XP_024306181.1:p.Ser958= | |
| NM_000548.5:c.3005C= MANE Select | NP_000539.2:p.Ser1002= | |
| NM_001370404.1:c.2873C= | NP_001357333.1:p.Ser958= | |
| NM_001370405.1:c.2876C= | NP_001357334.1:p.Ser959= | |
| NM_001077183.3:c.2873C= | NP_001070651.1:p.Ser958= | |
| NM_001114382.3:c.3005C= | NP_001107854.1:p.Ser1002= | |
| NM_001318827.2:c.2765C= | NP_001305756.1:p.Ser922= | |
| NM_001318829.2:c.2729C= | NP_001305758.1:p.Ser910= | |
| NM_001318831.2:c.2273C= | NP_001305760.1:p.Ser758= | |
| NM_001318832.2:c.2906C= | NP_001305761.1:p.Ser969= | |
| NM_001363528.2:c.2876C= | NP_001350457.1:p.Ser959= | |
| NM_021055.3:c.2876C= | NP_066399.2:p.Ser959= |