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_000007.14:g.152148673C= , CM000669.2:g.152148673C= | GRCh38 |
| NC_000007.13:g.151845758C= , CM000669.1:g.151845758C= | GRCh37 |
| NC_000007.12:g.151476691C= | NCBI36 |
| NG_033948.1:g.292333G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682040.1:c.1442G= | ||
| ENST00000682116.1:n.2386G= | ||
| ENST00000682283.1:c.13425G= | ENSP00000507485.1:p.Arg4475= | |
| ENST00000682629.1:n.2554G= | ||
| ENST00000683120.1:n.8446G= | ||
| ENST00000683178.1:c.3827G= | ||
| ENST00000683200.1:c.10764G= | ENSP00000508052.1:p.Arg3588= | |
| ENST00000683337.1:n.4884G= | ||
| ENST00000683502.1:c.3899G= | ||
| ENST00000683621.1:n.2020G= | ||
| ENST00000683640.1:n.1970G= | ||
| ENST00000684069.1:c.1671G= | ENSP00000507650.1:p.Arg557= | |
| ENST00000684261.1:c.8151G= | ENSP00000508097.1:p.Arg2717= | |
| ENST00000684391.1:n.12G= | ||
| ENST00000684649.1:c.3899G= | ||
| ENST00000262189.11:c.13254G= MANE Select | ENSP00000262189.6:p.Arg4418= | |
| ENST00000360104.8:c.9041G= | ||
| ENST00000418061.2:c.3896G= | ||
| ENST00000424877.6:c.3830G= | ||
| ENST00000679393.1:n.7965G= | ||
| ENST00000679560.1:c.8154G= | ENSP00000505094.1:p.Arg2718= | |
| ENST00000679882.1:c.12819G= | ENSP00000506154.1:p.Arg4273= | |
| ENST00000680029.1:c.3831G= | ||
| ENST00000680877.1:c.8154G= | ENSP00000505724.1:p.Arg2718= | |
| ENST00000681923.1:n.2269G= | ||
| ENST00000262189.10:c.13254G= | ENSP00000262189.6:p.Arg4418= | |
| ENST00000355193.6:c.13254G= | ENSP00000347325.3:p.Arg4418= | |
| ENST00000360104.7:c.5935G= | ||
| ENST00000424877.5:c.3105G= | ENSP00000410411.1:p.Arg1035= | |
| ENST00000473186.5:n.11136G= | ||
| ENST00000558084.5:c.*10774G= | ENSP00000453752.1:n.*10774G= | |
| NM_170606.2:c.13254G= | NP_733751.2:p.Arg4418= | |
| XM_005250025.3:c.13470G= | XP_005250082.1:p.Arg4490= | |
| XM_005250026.2:c.13467G= | XP_005250083.1:p.Arg4489= | |
| XM_005250027.3:c.13467G= | XP_005250084.1:p.Arg4489= | |
| XM_005250028.3:c.13470G= | XP_005250085.1:p.Arg4490= | |
| XM_005250031.3:c.13305G= | XP_005250088.1:p.Arg4435= | |
| XM_006716077.2:c.13467G= | XP_006716140.1:p.Arg4489= | |
| XM_006716078.2:c.13398G= | XP_006716141.1:p.Arg4466= | |
| XM_006716079.2:c.13302G= | XP_006716142.1:p.Arg4434= | |
| XM_011516450.1:c.13422G= | XP_011514752.1:p.Arg4474= | |
| XM_011516451.1:c.13350G= | XP_011514753.1:p.Arg4450= | |
| XM_011516452.1:c.13317G= | XP_011514754.1:p.Arg4439= | |
| XM_011516453.1:c.13233G= | XP_011514755.1:p.Arg4411= | |
| XM_011516454.1:c.12555G= | XP_011514756.1:p.Arg4185= | |
| XM_011516455.1:c.11016G= | XP_011514757.1:p.Arg3672= | |
| XM_011516456.1:c.13422G= | XP_011514758.1:p.Arg4474= | |
| XM_005250025.4:c.13470G= | XP_005250082.1:p.Arg4490= | |
| XM_005250026.3:c.13467G= | XP_005250083.1:p.Arg4489= | |
| XM_005250027.4:c.13467G= | XP_005250084.1:p.Arg4489= | |
| XM_005250028.4:c.13470G= | XP_005250085.1:p.Arg4490= | |
| XM_005250031.4:c.13305G= | XP_005250088.1:p.Arg4435= | |
| XM_006716077.3:c.13467G= | XP_006716140.1:p.Arg4489= | |
| XM_006716078.3:c.13398G= | XP_006716141.1:p.Arg4466= | |
| XM_006716079.3:c.13302G= | XP_006716142.1:p.Arg4434= | |
| XM_011516450.2:c.13422G= | XP_011514752.1:p.Arg4474= | |
| XM_011516451.2:c.13350G= | XP_011514753.1:p.Arg4450= | |
| XM_011516452.2:c.13317G= | XP_011514754.1:p.Arg4439= | |
| XM_011516453.2:c.13233G= | XP_011514755.1:p.Arg4411= | |
| XM_011516454.2:c.12555G= | XP_011514756.1:p.Arg4185= | |
| XM_011516456.2:c.13422G= | XP_011514758.1:p.Arg4474= | |
| XM_017012480.1:c.13470G= | XP_016867969.1:p.Arg4490= | |
| XM_017012481.1:c.13467G= | XP_016867970.1:p.Arg4489= | |
| XM_017012482.1:c.13467G= | XP_016867971.1:p.Arg4489= | |
| XM_017012483.1:c.13467G= | XP_016867972.1:p.Arg4489= | |
| XM_017012484.1:c.13437G= | XP_016867973.1:p.Arg4479= | |
| XM_017012485.1:c.13419G= | XP_016867974.1:p.Arg4473= | |
| XM_017012486.1:c.13395G= | XP_016867975.1:p.Arg4465= | |
| XM_017012487.1:c.13323G= | XP_016867976.1:p.Arg4441= | |
| XM_017012488.1:c.13287G= | XP_016867977.1:p.Arg4429= | |
| XM_017012489.1:c.10140G= | XP_016867978.1:p.Arg3380= | |
| XM_017012490.2:c.9744G= | XP_016867979.1:p.Arg3248= | |
| XM_024446852.1:c.13467G= | XP_024302620.1:p.Arg4489= | |
| XM_024446853.1:c.13395G= | XP_024302621.1:p.Arg4465= | |
| NM_170606.3:c.13254G= MANE Select | NP_733751.2:p.Arg4418= |