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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74891401G>A | CA7662385 | MPI | c.167G>A (p.Arg56Gln) c.17G>A (p.Arg6Gln) c.*63G>A (n.*63G>A) c.107G>A (p.Arg36Gln) n.198G>A c.128G>A (p.Arg43Gln) c.145-14G>A (n.145-14G>A) n.276G>A c.224G>A (p.Arg75Gln) c.155G>A (p.Arg52Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891401G>C | CA393170895 | MPI | c.167G>C (p.Arg56Pro) c.17G>C (p.Arg6Pro) c.*63G>C (n.*63G>C) c.107G>C (p.Arg36Pro) n.198G>C c.128G>C (p.Arg43Pro) c.145-14G>C (n.145-14G>C) n.276G>C c.224G>C (p.Arg75Pro) c.155G>C (p.Arg52Pro) | |
| 15 | g.74891401G= | CA2187895586 | MPI | c.167G= (p.Arg56=) c.17G= (p.Arg6=) c.*63G= (n.*63G=) c.107G= (p.Arg36=) n.198G= c.128G= (p.Arg43=) c.145-14G= (n.145-14G=) n.276G= c.224G= (p.Arg75=) c.155G= (p.Arg52=) | |
| 15 | g.74891401G>T | CA393170899 | MPI | c.167G>T (p.Arg56Leu) c.17G>T (p.Arg6Leu) c.*63G>T (n.*63G>T) c.107G>T (p.Arg36Leu) n.198G>T c.128G>T (p.Arg43Leu) c.145-14G>T (n.145-14G>T) n.276G>T c.224G>T (p.Arg75Leu) c.155G>T (p.Arg52Leu) | gnomAD v4 |
| 15 | g.74891402A>C | CA491220059 | MPI | c.168A>C (p.Arg56=) c.18A>C (p.Arg6=) c.*64A>C (n.*64A>C) c.108A>C (p.Arg36=) n.199A>C c.129A>C (p.Arg43=) c.145-13A>C (n.145-13A>C) n.277A>C c.225A>C (p.Arg75=) c.156A>C (p.Arg52=) | |
| 15 | g.74891402A>G | CA491220060 | MPI | c.168A>G (p.Arg56=) c.18A>G (p.Arg6=) c.*64A>G (n.*64A>G) c.108A>G (p.Arg36=) n.199A>G c.129A>G (p.Arg43=) c.145-13A>G (n.145-13A>G) n.277A>G c.225A>G (p.Arg75=) c.156A>G (p.Arg52=) | |
| 15 | g.74891402A>T | CA491220061 | MPI | c.168A>T (p.Arg56=) c.18A>T (p.Arg6=) c.*64A>T (n.*64A>T) c.108A>T (p.Arg36=) n.199A>T c.129A>T (p.Arg43=) c.145-13A>T (n.145-13A>T) n.277A>T c.225A>T (p.Arg75=) c.156A>T (p.Arg52=) | |
| 15 | g.74891403G>A | CA393170917 | MPI | c.169G>A (p.Gly57Arg) c.19G>A (p.Gly7Arg) c.*65G>A (n.*65G>A) c.109G>A (p.Gly37Arg) n.200G>A c.130G>A (p.Gly44Arg) c.145-12G>A (n.145-12G>A) n.278G>A c.226G>A (p.Gly76Arg) c.157G>A (p.Gly53Arg) | ClinVar dbSNP |
| 15 | g.74891403G>C | CA393170913 | MPI | c.169G>C (p.Gly57Arg) c.19G>C (p.Gly7Arg) c.*65G>C (n.*65G>C) c.109G>C (p.Gly37Arg) n.200G>C c.130G>C (p.Gly44Arg) c.145-12G>C (n.145-12G>C) n.278G>C c.226G>C (p.Gly76Arg) c.157G>C (p.Gly53Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74891403G= | CA2187895589 | MPI | c.169G= (p.Gly57=) c.19G= (p.Gly7=) c.*65G= (n.*65G=) c.109G= (p.Gly37=) n.200G= c.130G= (p.Gly44=) c.145-12G= (n.145-12G=) n.278G= c.226G= (p.Gly76=) c.157G= (p.Gly53=) | |
| 15 | g.74891403G>T | CA393170909 | MPI | c.169G>T (p.Gly57Trp) c.19G>T (p.Gly7Trp) c.*65G>T (n.*65G>T) c.109G>T (p.Gly37Trp) n.200G>T c.130G>T (p.Gly44Trp) c.145-12G>T (n.145-12G>T) n.278G>T c.226G>T (p.Gly76Trp) c.157G>T (p.Gly53Trp) | |
| 15 | g.74891404G>A | CA393170921 | MPI | c.170G>A (p.Gly57Glu) c.20G>A (p.Gly7Glu) c.*66G>A (n.*66G>A) c.110G>A (p.Gly37Glu) n.201G>A c.131G>A (p.Gly44Glu) c.145-11G>A (n.145-11G>A) n.279G>A c.227G>A (p.Gly76Glu) c.158G>A (p.Gly53Glu) | dbSNP |
| 15 | g.74891404G>C | CA393170923 | MPI | c.170G>C (p.Gly57Ala) c.20G>C (p.Gly7Ala) c.*66G>C (n.*66G>C) c.110G>C (p.Gly37Ala) n.201G>C c.131G>C (p.Gly44Ala) c.145-11G>C (n.145-11G>C) n.279G>C c.227G>C (p.Gly76Ala) c.158G>C (p.Gly53Ala) | |
| 15 | g.74891404G= | CA2187895591 | MPI | c.170G= (p.Gly57=) c.20G= (p.Gly7=) c.*66G= (n.*66G=) c.110G= (p.Gly37=) n.201G= c.131G= (p.Gly44=) c.145-11G= (n.145-11G=) n.279G= c.227G= (p.Gly76=) c.158G= (p.Gly53=) | |
| 15 | g.74891404G>T | CA7662386 | MPI | c.170G>T (p.Gly57Val) c.20G>T (p.Gly7Val) c.*66G>T (n.*66G>T) c.110G>T (p.Gly37Val) n.201G>T c.131G>T (p.Gly44Val) c.145-11G>T (n.145-11G>T) n.279G>T c.227G>T (p.Gly76Val) c.158G>T (p.Gly53Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74891405G>A | CA491220065 | MPI | c.171G>A (p.Gly57=) c.21G>A (p.Gly7=) c.*67G>A (n.*67G>A) c.111G>A (p.Gly37=) n.202G>A c.132G>A (p.Gly44=) c.145-10G>A (n.145-10G>A) n.280G>A c.228G>A (p.Gly76=) c.159G>A (p.Gly53=) | ClinVar gnomAD v4 |
| 15 | g.74891405G>C | CA491220067 | MPI | c.171G>C (p.Gly57=) c.21G>C (p.Gly7=) c.*67G>C (n.*67G>C) c.111G>C (p.Gly37=) n.202G>C c.132G>C (p.Gly44=) c.145-10G>C (n.145-10G>C) n.280G>C c.228G>C (p.Gly76=) c.159G>C (p.Gly53=) | |
| 15 | g.74891405G>T | CA491220066 | MPI | c.171G>T (p.Gly57=) c.21G>T (p.Gly7=) c.*67G>T (n.*67G>T) c.111G>T (p.Gly37=) n.202G>T c.132G>T (p.Gly44=) c.145-10G>T (n.145-10G>T) n.280G>T c.228G>T (p.Gly76=) c.159G>T (p.Gly53=) | gnomAD v4 |
| 15 | g.74891406G>A | CA393170928 | MPI | c.172G>A (p.Asp58Asn) c.22G>A (p.Asp8Asn) c.*68G>A (n.*68G>A) c.112G>A (p.Asp38Asn) n.203G>A c.133G>A (p.Asp45Asn) c.145-9G>A (n.145-9G>A) n.281G>A c.229G>A (p.Asp77Asn) c.160G>A (p.Asp54Asn) | |
| 15 | g.74891406G>C | CA393170933 | MPI | c.172G>C (p.Asp58His) c.22G>C (p.Asp8His) c.*68G>C (n.*68G>C) c.112G>C (p.Asp38His) n.203G>C c.133G>C (p.Asp45His) c.145-9G>C (n.145-9G>C) n.281G>C c.229G>C (p.Asp77His) c.160G>C (p.Asp54His) | |
| 15 | g.74891406G>T | CA393170938 | MPI | c.172G>T (p.Asp58Tyr) c.22G>T (p.Asp8Tyr) c.*68G>T (n.*68G>T) c.112G>T (p.Asp38Tyr) n.203G>T c.133G>T (p.Asp45Tyr) c.145-9G>T (n.145-9G>T) n.281G>T c.229G>T (p.Asp77Tyr) c.160G>T (p.Asp54Tyr) | |
| 15 | g.74891407A>C | CA393170942 | MPI | c.173A>C (p.Asp58Ala) c.23A>C (p.Asp8Ala) c.*69A>C (n.*69A>C) c.113A>C (p.Asp38Ala) n.204A>C c.134A>C (p.Asp45Ala) c.145-8A>C (n.145-8A>C) n.282A>C c.230A>C (p.Asp77Ala) c.161A>C (p.Asp54Ala) | |
| 15 | g.74891407A>G | CA393170949 | MPI | c.173A>G (p.Asp58Gly) c.23A>G (p.Asp8Gly) c.*69A>G (n.*69A>G) c.113A>G (p.Asp38Gly) n.204A>G c.134A>G (p.Asp45Gly) c.145-8A>G (n.145-8A>G) n.282A>G c.230A>G (p.Asp77Gly) c.161A>G (p.Asp54Gly) | |
| 15 | g.74891407A>T | CA393170944 | MPI | c.173A>T (p.Asp58Val) c.23A>T (p.Asp8Val) c.*69A>T (n.*69A>T) c.113A>T (p.Asp38Val) n.204A>T c.134A>T (p.Asp45Val) c.145-8A>T (n.145-8A>T) n.282A>T c.230A>T (p.Asp77Val) c.161A>T (p.Asp54Val) | |
| 15 | g.74891408T>A | CA393170952 | MPI | c.174T>A (p.Asp58Glu) c.24T>A (p.Asp8Glu) c.*70T>A (n.*70T>A) c.114T>A (p.Asp38Glu) n.205T>A c.135T>A (p.Asp45Glu) c.145-7T>A (n.145-7T>A) n.283T>A c.231T>A (p.Asp77Glu) c.162T>A (p.Asp54Glu) | |
| 15 | g.74891408T>C | CA491220069 | MPI | c.174T>C (p.Asp58=) c.24T>C (p.Asp8=) c.*70T>C (n.*70T>C) c.114T>C (p.Asp38=) n.205T>C c.135T>C (p.Asp45=) c.145-7T>C (n.145-7T>C) n.283T>C c.231T>C (p.Asp77=) c.162T>C (p.Asp54=) | |
| 15 | g.74891408T>G | CA393170955 | MPI | c.174T>G (p.Asp58Glu) c.24T>G (p.Asp8Glu) c.*70T>G (n.*70T>G) c.114T>G (p.Asp38Glu) n.205T>G c.135T>G (p.Asp45Glu) c.145-7T>G (n.145-7T>G) n.283T>G c.231T>G (p.Asp77Glu) c.162T>G (p.Asp54Glu) | |
| 15 | g.74891409G>A | CA393170962 | MPI | c.175G>A (p.Ala59Thr) c.25G>A (p.Ala9Thr) c.*71G>A (n.*71G>A) c.115G>A (p.Ala39Thr) n.206G>A c.136G>A (p.Ala46Thr) c.145-6G>A (n.145-6G>A) n.284G>A c.232G>A (p.Ala78Thr) c.163G>A (p.Ala55Thr) | gnomAD v4 |
| 15 | g.74891409G>C | CA393170965 | MPI | c.175G>C (p.Ala59Pro) c.25G>C (p.Ala9Pro) c.*71G>C (n.*71G>C) c.115G>C (p.Ala39Pro) n.206G>C c.136G>C (p.Ala46Pro) c.145-6G>C (n.145-6G>C) n.284G>C c.232G>C (p.Ala78Pro) c.163G>C (p.Ala55Pro) | |
| 15 | g.74891409G>T | CA393170969 | MPI | c.175G>T (p.Ala59Ser) c.25G>T (p.Ala9Ser) c.*71G>T (n.*71G>T) c.115G>T (p.Ala39Ser) n.206G>T c.136G>T (p.Ala46Ser) c.145-6G>T (n.145-6G>T) n.284G>T c.232G>T (p.Ala78Ser) c.163G>T (p.Ala55Ser) | |
| 15 | g.74891410C>A | CA393170973 | MPI | c.176C>A (p.Ala59Asp) c.26C>A (p.Ala9Asp) c.*72C>A (n.*72C>A) c.116C>A (p.Ala39Asp) n.207C>A c.137C>A (p.Ala46Asp) c.145-5C>A (n.145-5C>A) n.285C>A c.233C>A (p.Ala78Asp) c.164C>A (p.Ala55Asp) | |
| 15 | g.74891410C>G | CA393170976 | MPI | c.176C>G (p.Ala59Gly) c.26C>G (p.Ala9Gly) c.*72C>G (n.*72C>G) c.116C>G (p.Ala39Gly) n.207C>G c.137C>G (p.Ala46Gly) c.145-5C>G (n.145-5C>G) n.285C>G c.233C>G (p.Ala78Gly) c.164C>G (p.Ala55Gly) | |
| 15 | g.74891410C>T | CA393170978 | MPI | c.176C>T (p.Ala59Val) c.26C>T (p.Ala9Val) c.*72C>T (n.*72C>T) c.116C>T (p.Ala39Val) n.207C>T c.137C>T (p.Ala46Val) c.145-5C>T (n.145-5C>T) n.285C>T c.233C>T (p.Ala78Val) c.164C>T (p.Ala55Val) | |
| 15 | g.74891411C>A | CA491220071 | MPI | c.177C>A (p.Ala59=) c.27C>A (p.Ala9=) c.*73C>A (n.*73C>A) c.117C>A (p.Ala39=) n.208C>A c.138C>A (p.Ala46=) c.145-4C>A (n.145-4C>A) n.286C>A c.234C>A (p.Ala78=) c.165C>A (p.Ala55=) | ClinVar |
| 15 | g.74891411C= | CA2187895593 | MPI | c.177C= (p.Ala59=) c.27C= (p.Ala9=) c.*73C= (n.*73C=) c.117C= (p.Ala39=) n.208C= c.138C= (p.Ala46=) c.145-4C= (n.145-4C=) n.286C= c.234C= (p.Ala78=) c.165C= (p.Ala55=) | |
| 15 | g.74891411C>G | CA491220072 | MPI | c.177C>G (p.Ala59=) c.27C>G (p.Ala9=) c.*73C>G (n.*73C>G) c.117C>G (p.Ala39=) n.208C>G c.138C>G (p.Ala46=) c.145-4C>G (n.145-4C>G) n.286C>G c.234C>G (p.Ala78=) c.165C>G (p.Ala55=) | dbSNP |
| 15 | g.74891411C>T | CA491220073 | MPI | c.177C>T (p.Ala59=) c.27C>T (p.Ala9=) c.*73C>T (n.*73C>T) c.117C>T (p.Ala39=) n.208C>T c.138C>T (p.Ala46=) c.145-4C>T (n.145-4C>T) n.286C>T c.234C>T (p.Ala78=) c.165C>T (p.Ala55=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74891412A>C | CA393170984 | MPI | c.178A>C (p.Lys60Gln) c.28A>C (p.Lys10Gln) c.*74A>C (n.*74A>C) c.118A>C (p.Lys40Gln) n.209A>C c.139A>C (p.Lys47Gln) c.145-3A>C (n.145-3A>C) n.287A>C c.235A>C (p.Lys79Gln) c.166A>C (p.Lys56Gln) | |
| 15 | g.74891412A>G | CA393170987 | MPI | c.178A>G (p.Lys60Glu) c.28A>G (p.Lys10Glu) c.*74A>G (n.*74A>G) c.118A>G (p.Lys40Glu) n.209A>G c.139A>G (p.Lys47Glu) c.145-3A>G (n.145-3A>G) n.287A>G c.235A>G (p.Lys79Glu) c.166A>G (p.Lys56Glu) | |
| 15 | g.74891412A>T | CA393170990 | MPI | c.178A>T (p.Lys60Ter) c.28A>T (p.Lys10Ter) c.*74A>T (n.*74A>T) c.118A>T (p.Lys40Ter) n.209A>T c.139A>T (p.Lys47Ter) c.145-3A>T (n.145-3A>T) n.287A>T c.235A>T (p.Lys79Ter) c.166A>T (p.Lys56Ter) | |
| 15 | g.74891413A>C | CA393170997 | MPI | c.179A>C (p.Lys60Thr) c.29A>C (p.Lys10Thr) c.*75A>C (n.*75A>C) c.119A>C (p.Lys40Thr) n.210A>C c.140A>C (p.Lys47Thr) c.145-2A>C (n.145-2A>C) n.288A>C c.236A>C (p.Lys79Thr) c.167A>C (p.Lys56Thr) | |
| 15 | g.74891413A>G | CA393170999 | MPI | c.179A>G (p.Lys60Arg) c.29A>G (p.Lys10Arg) c.*75A>G (n.*75A>G) c.119A>G (p.Lys40Arg) n.210A>G c.140A>G (p.Lys47Arg) c.145-2A>G (n.145-2A>G) n.288A>G c.236A>G (p.Lys79Arg) c.167A>G (p.Lys56Arg) | |
| 15 | g.74891413A>T | CA393170994 | MPI | c.179A>T (p.Lys60Met) c.29A>T (p.Lys10Met) c.*75A>T (n.*75A>T) c.119A>T (p.Lys40Met) n.210A>T c.140A>T (p.Lys47Met) c.145-2A>T (n.145-2A>T) n.288A>T c.236A>T (p.Lys79Met) c.167A>T (p.Lys56Met) | |
| 15 | g.74891414G>A | CA393171008 | MPI | c.180G>A (p.Lys60=) c.30G>A (p.Lys10=) c.*76G>A (n.*76G>A) c.120G>A (p.Lys40=) n.211G>A c.141G>A (p.Lys47=) c.145-1G>A (n.145-1G>A) n.289G>A c.237G>A (p.Lys79=) c.168G>A (p.Lys56=) | ClinVar |
| 15 | g.74891414G>C | CA393171011 | MPI | c.180G>C (p.Lys60Asn) c.30G>C (p.Lys10Asn) c.*76G>C (n.*76G>C) c.120G>C (p.Lys40Asn) n.211G>C c.141G>C (p.Lys47Asn) c.145-1G>C (n.145-1G>C) n.289G>C c.237G>C (p.Lys79Asn) c.168G>C (p.Lys56Asn) | |
| 15 | g.74891414G>T | CA393171010 | MPI | c.180G>T (p.Lys60Asn) c.30G>T (p.Lys10Asn) c.*76G>T (n.*76G>T) c.120G>T (p.Lys40Asn) n.211G>T c.141G>T (p.Lys47Asn) c.145-1G>T (n.145-1G>T) n.289G>T c.237G>T (p.Lys79Asn) c.168G>T (p.Lys56Asn) | gnomAD v4 |
| 15 | g.74891415A= | CA2187895597 | MPI | c.181A= (p.Ile61=) c.31A= (p.Ile11=) c.*77A= (n.*77A=) c.121A= (p.Ile41=) n.212A= c.142A= (p.Ile48=) c.145A= (p.Ile49=) n.290A= c.238A= (p.Ile80=) c.169A= (p.Ile57=) | |
| 15 | g.74891415A>C | CA393171012 | MPI | c.181A>C (p.Ile61Leu) c.31A>C (p.Ile11Leu) c.*77A>C (n.*77A>C) c.121A>C (p.Ile41Leu) n.212A>C c.142A>C (p.Ile48Leu) c.145A>C (p.Ile49Leu) n.290A>C c.238A>C (p.Ile80Leu) c.169A>C (p.Ile57Leu) | |
| 15 | g.74891415A>G | CA393171017 | MPI | c.181A>G (p.Ile61Val) c.31A>G (p.Ile11Val) c.*77A>G (n.*77A>G) c.121A>G (p.Ile41Val) n.212A>G c.142A>G (p.Ile48Val) c.145A>G (p.Ile49Val) n.290A>G c.238A>G (p.Ile80Val) c.169A>G (p.Ile57Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74891415A>T | CA393171014 | MPI | c.181A>T (p.Ile61Phe) c.31A>T (p.Ile11Phe) c.*77A>T (n.*77A>T) c.121A>T (p.Ile41Phe) n.212A>T c.142A>T (p.Ile48Phe) c.145A>T (p.Ile49Phe) n.290A>T c.238A>T (p.Ile80Phe) c.169A>T (p.Ile57Phe) |