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_000023.11:g.72464647C= , CM000685.2:g.72464647C= | GRCh38 |
| NC_000023.10:g.71684497C= , CM000685.1:g.71684497C= | GRCh37 |
| NC_000023.9:g.71601222C= | NCBI36 |
| NG_015851.1:g.113457G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373568.7:c.822G= | ENSP00000362669.3:p.Met274= | |
| ENST00000373573.9:c.822G= MANE Select | ENSP00000362674.3:p.Met274= | |
| ENST00000373583.6:c.744G= | ENSP00000362685.2:p.Met248= | |
| ENST00000373589.9:c.549G= | ENSP00000362691.4:p.Met183= | |
| ENST00000415409.6:c.822G= | ENSP00000396424.2:p.Met274= | |
| ENST00000436675.6:c.*77G= | ENSP00000416489.1:n.*77G= | |
| ENST00000478743.2:n.908G= | ||
| ENST00000647594.1:c.822G= | ENSP00000496814.1:p.Met274= | |
| ENST00000647606.1:c.597G= | ||
| ENST00000647613.1:c.*575G= | ENSP00000497911.1:n.*575G= | |
| ENST00000647641.1:n.909G= | ||
| ENST00000647654.1:c.549G= | ENSP00000497568.1:p.Met183= | |
| ENST00000647718.1:n.877G= | ||
| ENST00000647859.1:c.822G= | ENSP00000497530.1:p.Met274= | |
| ENST00000647886.1:c.822G= | ENSP00000497188.1:p.Met274= | |
| ENST00000647980.1:c.816G= | ENSP00000498002.1:p.Met272= | |
| ENST00000648139.1:c.522G= | ENSP00000496818.1:p.Met174= | |
| ENST00000648276.1:c.66G= | ENSP00000497619.1:p.Met22= | |
| ENST00000648285.1:n.605G= | ||
| ENST00000648298.1:c.822G= | ENSP00000496866.1:p.Met274= | |
| ENST00000648452.1:c.822G= | ENSP00000497268.1:p.Met274= | |
| ENST00000648459.1:c.219G= | ENSP00000498072.1:p.Met73= | |
| ENST00000648504.1:c.759G= | ENSP00000497668.1:p.Met253= | |
| ENST00000648711.1:c.447G= | ENSP00000498040.1:p.Met149= | |
| ENST00000648731.1:c.928G= | ||
| ENST00000648834.1:c.822G= | ENSP00000497764.1:p.Met274= | |
| ENST00000648850.1:c.457G= | ||
| ENST00000648855.1:n.746G= | ||
| ENST00000648870.1:c.822G= | ENSP00000497599.1:p.Met274= | |
| ENST00000648922.1:c.822G= | ENSP00000497072.1:p.Met274= | |
| ENST00000648939.1:c.822G= | ENSP00000497442.1:p.Met274= | |
| ENST00000649097.1:c.822G= | ENSP00000497551.1:p.Met274= | |
| ENST00000649116.1:c.*379G= | ENSP00000497925.1:n.*379G= | |
| ENST00000649181.1:c.*184G= | ENSP00000498150.1:n.*184G= | |
| ENST00000649242.1:c.*426G= | ENSP00000497943.1:n.*426G= | |
| ENST00000649274.1:c.760G= | ENSP00000497032.1:n.760G= | |
| ENST00000649518.1:c.*426G= | ENSP00000498169.1:n.*426G= | |
| ENST00000649543.1:c.*426G= | ENSP00000496826.1:n.*426G= | |
| ENST00000649752.1:c.549G= | ENSP00000497267.1:p.Met183= | |
| ENST00000650076.1:c.211+24286G= | ||
| ENST00000650471.1:c.*266G= | ENSP00000498027.1:n.*266G= | |
| ENST00000650604.1:c.249G= | ENSP00000497105.1:p.Met83= | |
| ENST00000373568.6:c.549G= | ENSP00000362669.2:p.Met183= | |
| ENST00000373573.7:c.822G= | ENSP00000362674.3:p.Met274= | |
| ENST00000373583.5:c.164+107410G= | ENSP00000362685.1:n.164+107410G= | |
| ENST00000373589.8:c.549G= | ENSP00000362691.4:p.Met183= | |
| ENST00000415409.5:c.744G= | ENSP00000396424.1:p.Met248= | |
| ENST00000436675.5:c.*77G= | ENSP00000416489.1:n.*77G= | |
| NM_001166418.1:c.549G= | NP_001159890.1:p.Met183= | |
| NM_018486.2:c.822G= | NP_060956.1:p.Met274= | |
| NR_051952.1:n.1022G= | ||
| XM_011530986.1:c.822G= | XP_011529288.1:p.Met274= | |
| XM_011530987.1:c.822G= | XP_011529289.1:p.Met274= | |
| XM_011530988.1:c.822G= | XP_011529290.1:p.Met274= | |
| XR_938402.1:n.908G= | ||
| XM_011530986.3:c.822G= | XP_011529288.3:p.Met274= | |
| XM_017029640.2:c.744G= | XP_016885129.2:p.Met248= | |
| XM_017029641.2:c.744G= | XP_016885130.2:p.Met248= | |
| XM_017029642.1:c.663G= | XP_016885131.1:p.Met221= | |
| XM_017029643.2:c.636G= | XP_016885132.1:p.Met212= | |
| XM_017029644.2:c.585G= | XP_016885133.1:p.Met195= | |
| XM_017029645.2:c.636G= | XP_016885134.1:p.Met212= | |
| XM_017029646.1:c.435G= | XP_016885135.1:p.Met145= | |
| XM_024452405.1:c.237G= | XP_024308173.1:p.Met79= | |
| XR_001755711.2:n.908G= | ||
| XR_002958779.1:n.908G= | ||
| XR_002958780.1:n.908G= | ||
| XR_002958781.1:n.908G= | ||
| XR_002958782.1:n.884G= | ||
| XR_002958783.1:n.884G= | ||
| XR_938402.3:n.908G= | ||
| NM_018486.3:c.822G= MANE Select | NP_060956.1:p.Met274= | |
| NM_001166418.2:c.549G= | NP_001159890.1:p.Met183= | |
| NR_051952.2:n.762G= |