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.72464572G= , CM000685.2:g.72464572G= | GRCh38 |
| NC_000023.10:g.71684422G= , CM000685.1:g.71684422G= | GRCh37 |
| NC_000023.9:g.71601147G= | NCBI36 |
| NG_015851.1:g.113532C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373568.7:c.897C= | ENSP00000362669.3:p.Leu299= | |
| ENST00000373573.9:c.897C= MANE Select | ENSP00000362674.3:p.Leu299= | |
| ENST00000373583.6:c.819C= | ENSP00000362685.2:p.Leu273= | |
| ENST00000373589.9:c.624C= | ENSP00000362691.4:p.Leu208= | |
| ENST00000415409.6:c.897C= | ENSP00000396424.2:p.Leu299= | |
| ENST00000436675.6:c.*152C= | ENSP00000416489.1:n.*152C= | |
| ENST00000478743.2:n.983C= | ||
| ENST00000647594.1:c.897C= | ENSP00000496814.1:p.Leu299= | |
| ENST00000647606.1:c.672C= | ||
| ENST00000647613.1:c.*650C= | ENSP00000497911.1:n.*650C= | |
| ENST00000647641.1:n.984C= | ||
| ENST00000647654.1:c.624C= | ENSP00000497568.1:p.Leu208= | |
| ENST00000647718.1:n.952C= | ||
| ENST00000647859.1:c.897C= | ENSP00000497530.1:p.Leu299= | |
| ENST00000647886.1:c.897C= | ENSP00000497188.1:p.Leu299= | |
| ENST00000647980.1:c.891C= | ENSP00000498002.1:p.Leu297= | |
| ENST00000648139.1:c.597C= | ENSP00000496818.1:p.Leu199= | |
| ENST00000648276.1:c.141C= | ENSP00000497619.1:p.Leu47= | |
| ENST00000648285.1:n.680C= | ||
| ENST00000648298.1:c.897C= | ENSP00000496866.1:p.Leu299= | |
| ENST00000648452.1:c.897C= | ENSP00000497268.1:p.Leu299= | |
| ENST00000648459.1:c.294C= | ENSP00000498072.1:p.Leu98= | |
| ENST00000648504.1:c.834C= | ENSP00000497668.1:p.Leu278= | |
| ENST00000648711.1:c.522C= | ENSP00000498040.1:p.Leu174= | |
| ENST00000648731.1:c.1003C= | ||
| ENST00000648834.1:c.897C= | ENSP00000497764.1:p.Leu299= | |
| ENST00000648850.1:c.532C= | ||
| ENST00000648855.1:n.821C= | ||
| ENST00000648870.1:c.897C= | ENSP00000497599.1:p.Leu299= | |
| ENST00000648922.1:c.897C= | ENSP00000497072.1:p.Leu299= | |
| ENST00000648939.1:c.897C= | ENSP00000497442.1:p.Leu299= | |
| ENST00000649097.1:c.897C= | ENSP00000497551.1:p.Leu299= | |
| ENST00000649116.1:c.*454C= | ENSP00000497925.1:n.*454C= | |
| ENST00000649181.1:c.*259C= | ENSP00000498150.1:n.*259C= | |
| ENST00000649242.1:c.*501C= | ENSP00000497943.1:n.*501C= | |
| ENST00000649274.1:c.835C= | ENSP00000497032.1:n.835C= | |
| ENST00000649518.1:c.*501C= | ENSP00000498169.1:n.*501C= | |
| ENST00000649543.1:c.*501C= | ENSP00000496826.1:n.*501C= | |
| ENST00000649752.1:c.624C= | ENSP00000497267.1:p.Leu208= | |
| ENST00000650076.1:c.211+24361C= | ||
| ENST00000650471.1:c.*341C= | ENSP00000498027.1:n.*341C= | |
| ENST00000650604.1:c.324C= | ENSP00000497105.1:p.Leu108= | |
| ENST00000373568.6:c.624C= | ENSP00000362669.2:p.Leu208= | |
| ENST00000373573.7:c.897C= | ENSP00000362674.3:p.Leu299= | |
| ENST00000373583.5:c.164+107485C= | ENSP00000362685.1:n.164+107485C= | |
| ENST00000373589.8:c.624C= | ENSP00000362691.4:p.Leu208= | |
| ENST00000415409.5:c.819C= | ENSP00000396424.1:p.Leu273= | |
| ENST00000436675.5:c.*152C= | ENSP00000416489.1:n.*152C= | |
| NM_001166418.1:c.624C= | NP_001159890.1:p.Leu208= | |
| NM_018486.2:c.897C= | NP_060956.1:p.Leu299= | |
| NR_051952.1:n.1097C= | ||
| XM_011530986.1:c.897C= | XP_011529288.1:p.Leu299= | |
| XM_011530987.1:c.897C= | XP_011529289.1:p.Leu299= | |
| XM_011530988.1:c.897C= | XP_011529290.1:p.Leu299= | |
| XR_938402.1:n.983C= | ||
| XM_011530986.3:c.897C= | XP_011529288.3:p.Leu299= | |
| XM_017029640.2:c.819C= | XP_016885129.2:p.Leu273= | |
| XM_017029641.2:c.819C= | XP_016885130.2:p.Leu273= | |
| XM_017029642.1:c.738C= | XP_016885131.1:p.Leu246= | |
| XM_017029643.2:c.711C= | XP_016885132.1:p.Leu237= | |
| XM_017029644.2:c.660C= | XP_016885133.1:p.Leu220= | |
| XM_017029645.2:c.711C= | XP_016885134.1:p.Leu237= | |
| XM_017029646.1:c.510C= | XP_016885135.1:p.Leu170= | |
| XM_024452405.1:c.312C= | XP_024308173.1:p.Leu104= | |
| XR_001755711.2:n.983C= | ||
| XR_002958779.1:n.983C= | ||
| XR_002958780.1:n.983C= | ||
| XR_002958781.1:n.983C= | ||
| XR_002958782.1:n.959C= | ||
| XR_002958783.1:n.959C= | ||
| XR_938402.3:n.983C= | ||
| NM_018486.3:c.897C= MANE Select | NP_060956.1:p.Leu299= | |
| NM_001166418.2:c.624C= | NP_001159890.1:p.Leu208= | |
| NR_051952.2:n.837C= |