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 |
|---|---|---|---|---|---|
| 8 | g.32595848G>A | CA370925924 | NRG1 | c.121G>A (p.Glu41Lys) c.58G>A (p.Glu20Lys) n.118G>A c.92G>A n.558G>A c.235G>A (p.Glu79Lys) c.766G>A (p.Glu256Lys) c.325G>A (p.Glu109Lys) c.70G>A (p.Glu24Lys) c.142G>A (p.Glu48Lys) c.-535G>A (n.-535G>A) c.-484G>A (n.-484G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.32595848G>C | CA370925927 | NRG1 | c.121G>C (p.Glu41Gln) c.58G>C (p.Glu20Gln) n.118G>C c.92G>C n.558G>C c.235G>C (p.Glu79Gln) c.766G>C (p.Glu256Gln) c.325G>C (p.Glu109Gln) c.70G>C (p.Glu24Gln) c.142G>C (p.Glu48Gln) c.-535G>C (n.-535G>C) c.-484G>C (n.-484G>C) | |
| 8 | g.32595848G= | CA1774794607 | NRG1 | c.121G= (p.Glu41=) c.58G= (p.Glu20=) n.118G= c.92G= n.558G= c.235G= (p.Glu79=) c.766G= (p.Glu256=) c.325G= (p.Glu109=) c.70G= (p.Glu24=) c.142G= (p.Glu48=) c.-535G= (n.-535G=) c.-484G= (n.-484G=) | |
| 8 | g.32595848G>T | CA370925933 | NRG1 | c.121G>T (p.Glu41Ter) c.58G>T (p.Glu20Ter) n.118G>T c.92G>T n.558G>T c.235G>T (p.Glu79Ter) c.766G>T (p.Glu256Ter) c.325G>T (p.Glu109Ter) c.70G>T (p.Glu24Ter) c.142G>T (p.Glu48Ter) c.-535G>T (n.-535G>T) c.-484G>T (n.-484G>T) | |
| 8 | g.32595849A>C | CA370925942 | NRG1 | c.122A>C (p.Glu41Ala) c.59A>C (p.Glu20Ala) n.119A>C c.93A>C n.559A>C c.236A>C (p.Glu79Ala) c.767A>C (p.Glu256Ala) c.326A>C (p.Glu109Ala) c.71A>C (p.Glu24Ala) c.143A>C (p.Glu48Ala) c.-534A>C (n.-534A>C) c.-483A>C (n.-483A>C) | |
| 8 | g.32595849A>G | CA370925945 | NRG1 | c.122A>G (p.Glu41Gly) c.59A>G (p.Glu20Gly) n.119A>G c.93A>G n.559A>G c.236A>G (p.Glu79Gly) c.767A>G (p.Glu256Gly) c.326A>G (p.Glu109Gly) c.71A>G (p.Glu24Gly) c.143A>G (p.Glu48Gly) c.-534A>G (n.-534A>G) c.-483A>G (n.-483A>G) | |
| 8 | g.32595849A>T | CA370925946 | NRG1 | c.122A>T (p.Glu41Val) c.59A>T (p.Glu20Val) n.119A>T c.93A>T n.559A>T c.236A>T (p.Glu79Val) c.767A>T (p.Glu256Val) c.326A>T (p.Glu109Val) c.71A>T (p.Glu24Val) c.143A>T (p.Glu48Val) c.-534A>T (n.-534A>T) c.-483A>T (n.-483A>T) | COSMIC COSMIC COSMIC COSMIC |
| 8 | g.32595850G>A | CA460232641 | NRG1 | c.123G>A (p.Glu41=) c.60G>A (p.Glu20=) n.120G>A c.94G>A n.560G>A c.237G>A (p.Glu79=) c.768G>A (p.Glu256=) c.327G>A (p.Glu109=) c.72G>A (p.Glu24=) c.144G>A (p.Glu48=) c.-533G>A (n.-533G>A) c.-482G>A (n.-482G>A) | |
| 8 | g.32595850G>C | CA370925949 | NRG1 | c.123G>C (p.Glu41Asp) c.60G>C (p.Glu20Asp) n.120G>C c.94G>C n.560G>C c.237G>C (p.Glu79Asp) c.768G>C (p.Glu256Asp) c.327G>C (p.Glu109Asp) c.72G>C (p.Glu24Asp) c.144G>C (p.Glu48Asp) c.-533G>C (n.-533G>C) c.-482G>C (n.-482G>C) | gnomAD v4 |
| 8 | g.32595850G>T | CA370925952 | NRG1 | c.123G>T (p.Glu41Asp) c.60G>T (p.Glu20Asp) n.120G>T c.94G>T n.560G>T c.237G>T (p.Glu79Asp) c.768G>T (p.Glu256Asp) c.327G>T (p.Glu109Asp) c.72G>T (p.Glu24Asp) c.144G>T (p.Glu48Asp) c.-533G>T (n.-533G>T) c.-482G>T (n.-482G>T) | |
| 8 | g.32595851A= | CA1774794608 | NRG1 | c.124A= (p.Met42=) c.61A= (p.Met21=) n.121A= c.95A= n.561A= c.238A= (p.Met80=) c.769A= (p.Met257=) c.328A= (p.Met110=) c.73A= (p.Met25=) c.145A= (p.Met49=) c.-532A= (n.-532A=) c.-481A= (n.-481A=) | |
| 8 | g.32595851A>C | CA370925989 | NRG1 | c.124A>C (p.Met42Leu) c.61A>C (p.Met21Leu) n.121A>C c.95A>C n.561A>C c.238A>C (p.Met80Leu) c.769A>C (p.Met257Leu) c.328A>C (p.Met110Leu) c.73A>C (p.Met25Leu) c.145A>C (p.Met49Leu) c.-532A>C (n.-532A>C) c.-481A>C (n.-481A>C) | |
| 8 | g.32595851A>G | CA370925960 | NRG1 | c.124A>G (p.Met42Val) c.61A>G (p.Met21Val) n.121A>G c.95A>G n.561A>G c.238A>G (p.Met80Val) c.769A>G (p.Met257Val) c.328A>G (p.Met110Val) c.73A>G (p.Met25Val) c.145A>G (p.Met49Val) c.-532A>G (n.-532A>G) c.-481A>G (n.-481A>G) | gnomAD v4 |
| 8 | g.32595851A>T | CA370925983 | NRG1 | c.124A>T (p.Met42Leu) c.61A>T (p.Met21Leu) n.121A>T c.95A>T n.561A>T c.238A>T (p.Met80Leu) c.769A>T (p.Met257Leu) c.328A>T (p.Met110Leu) c.73A>T (p.Met25Leu) c.145A>T (p.Met49Leu) c.-532A>T (n.-532A>T) c.-481A>T (n.-481A>T) | dbSNP gnomAD v4 |
| 8 | g.32595852T>A | CA370925993 | NRG1 | c.125T>A (p.Met42Lys) c.62T>A (p.Met21Lys) n.122T>A c.96T>A n.562T>A c.239T>A (p.Met80Lys) c.770T>A (p.Met257Lys) c.329T>A (p.Met110Lys) c.74T>A (p.Met25Lys) c.146T>A (p.Met49Lys) c.-531T>A (n.-531T>A) c.-480T>A (n.-480T>A) | |
| 8 | g.32595852T>C | CA370925994 | NRG1 | c.125T>C (p.Met42Thr) c.62T>C (p.Met21Thr) n.122T>C c.96T>C n.562T>C c.239T>C (p.Met80Thr) c.770T>C (p.Met257Thr) c.329T>C (p.Met110Thr) c.74T>C (p.Met25Thr) c.146T>C (p.Met49Thr) c.-531T>C (n.-531T>C) c.-480T>C (n.-480T>C) | |
| 8 | g.32595852T>G | CA370926000 | NRG1 | c.125T>G (p.Met42Arg) c.62T>G (p.Met21Arg) n.122T>G c.96T>G n.562T>G c.239T>G (p.Met80Arg) c.770T>G (p.Met257Arg) c.329T>G (p.Met110Arg) c.74T>G (p.Met25Arg) c.146T>G (p.Met49Arg) c.-531T>G (n.-531T>G) c.-480T>G (n.-480T>G) | |
| 8 | g.32595853G>A | CA370926001 | NRG1 | c.126G>A (p.Met42Ile) c.63G>A (p.Met21Ile) n.123G>A c.97G>A n.563G>A c.240G>A (p.Met80Ile) c.771G>A (p.Met257Ile) c.330G>A (p.Met110Ile) c.75G>A (p.Met25Ile) c.147G>A (p.Met49Ile) c.-530G>A (n.-530G>A) c.-479G>A (n.-479G>A) | COSMIC COSMIC COSMIC |
| 8 | g.32595853G>C | CA370926002 | NRG1 | c.126G>C (p.Met42Ile) c.63G>C (p.Met21Ile) n.123G>C c.97G>C n.563G>C c.240G>C (p.Met80Ile) c.771G>C (p.Met257Ile) c.330G>C (p.Met110Ile) c.75G>C (p.Met25Ile) c.147G>C (p.Met49Ile) c.-530G>C (n.-530G>C) c.-479G>C (n.-479G>C) | |
| 8 | g.32595853G= | CA1774794609 | NRG1 | c.126G= (p.Met42=) c.63G= (p.Met21=) n.123G= c.97G= n.563G= c.240G= (p.Met80=) c.771G= (p.Met257=) c.330G= (p.Met110=) c.75G= (p.Met25=) c.147G= (p.Met49=) c.-530G= (n.-530G=) c.-479G= (n.-479G=) | |
| 8 | g.32595853G>T | CA174925894 | NRG1 | c.126G>T (p.Met42Ile) c.63G>T (p.Met21Ile) n.123G>T c.97G>T n.563G>T c.240G>T (p.Met80Ile) c.771G>T (p.Met257Ile) c.330G>T (p.Met110Ile) c.75G>T (p.Met25Ile) c.147G>T (p.Met49Ile) c.-530G>T (n.-530G>T) c.-479G>T (n.-479G>T) | dbSNP |
| 8 | g.32595854A>C | CA370926007 | NRG1 | c.127A>C (p.Lys43Gln) c.64A>C (p.Lys22Gln) n.124A>C c.98A>C n.564A>C c.241A>C (p.Lys81Gln) c.772A>C (p.Lys258Gln) c.331A>C (p.Lys111Gln) c.76A>C (p.Lys26Gln) c.148A>C (p.Lys50Gln) c.-529A>C (n.-529A>C) c.-478A>C (n.-478A>C) | |
| 8 | g.32595854A>G | CA370926008 | NRG1 | c.127A>G (p.Lys43Glu) c.64A>G (p.Lys22Glu) n.124A>G c.98A>G n.564A>G c.241A>G (p.Lys81Glu) c.772A>G (p.Lys258Glu) c.331A>G (p.Lys111Glu) c.76A>G (p.Lys26Glu) c.148A>G (p.Lys50Glu) c.-529A>G (n.-529A>G) c.-478A>G (n.-478A>G) | |
| 8 | g.32595854A>T | CA370926012 | NRG1 | c.127A>T (p.Lys43Ter) c.64A>T (p.Lys22Ter) n.124A>T c.98A>T n.564A>T c.241A>T (p.Lys81Ter) c.772A>T (p.Lys258Ter) c.331A>T (p.Lys111Ter) c.76A>T (p.Lys26Ter) c.148A>T (p.Lys50Ter) c.-529A>T (n.-529A>T) c.-478A>T (n.-478A>T) | |
| 8 | g.32595855A>C | CA370926018 | NRG1 | c.128A>C (p.Lys43Thr) c.65A>C (p.Lys22Thr) n.125A>C c.99A>C n.565A>C c.242A>C (p.Lys81Thr) c.773A>C (p.Lys258Thr) c.332A>C (p.Lys111Thr) c.77A>C (p.Lys26Thr) c.149A>C (p.Lys50Thr) c.-528A>C (n.-528A>C) c.-477A>C (n.-477A>C) | gnomAD v4 |
| 8 | g.32595855A>G | CA370926024 | NRG1 | c.128A>G (p.Lys43Arg) c.65A>G (p.Lys22Arg) n.125A>G c.99A>G n.565A>G c.242A>G (p.Lys81Arg) c.773A>G (p.Lys258Arg) c.332A>G (p.Lys111Arg) c.77A>G (p.Lys26Arg) c.149A>G (p.Lys50Arg) c.-528A>G (n.-528A>G) c.-477A>G (n.-477A>G) | |
| 8 | g.32595855A>T | CA370926027 | NRG1 | c.128A>T (p.Lys43Ile) c.65A>T (p.Lys22Ile) n.125A>T c.99A>T n.565A>T c.242A>T (p.Lys81Ile) c.773A>T (p.Lys258Ile) c.332A>T (p.Lys111Ile) c.77A>T (p.Lys26Ile) c.149A>T (p.Lys50Ile) c.-528A>T (n.-528A>T) c.-477A>T (n.-477A>T) | |
| 8 | g.32595856A= | CA1774794610 | NRG1 | c.129A= (p.Lys43=) c.66A= (p.Lys22=) n.126A= c.100A= n.566A= c.243A= (p.Lys81=) c.774A= (p.Lys258=) c.333A= (p.Lys111=) c.78A= (p.Lys26=) c.150A= (p.Lys50=) c.-527A= (n.-527A=) c.-476A= (n.-476A=) | |
| 8 | g.32595856A>C | CA370926038 | NRG1 | c.129A>C (p.Lys43Asn) c.66A>C (p.Lys22Asn) n.126A>C c.100A>C n.566A>C c.243A>C (p.Lys81Asn) c.774A>C (p.Lys258Asn) c.333A>C (p.Lys111Asn) c.78A>C (p.Lys26Asn) c.150A>C (p.Lys50Asn) c.-527A>C (n.-527A>C) c.-476A>C (n.-476A>C) | |
| 8 | g.32595856A>G | CA460232642 | NRG1 | c.129A>G (p.Lys43=) c.66A>G (p.Lys22=) n.126A>G c.100A>G n.566A>G c.243A>G (p.Lys81=) c.774A>G (p.Lys258=) c.333A>G (p.Lys111=) c.78A>G (p.Lys26=) c.150A>G (p.Lys50=) c.-527A>G (n.-527A>G) c.-476A>G (n.-476A>G) | dbSNP |
| 8 | g.32595856A>T | CA370926033 | NRG1 | c.129A>T (p.Lys43Asn) c.66A>T (p.Lys22Asn) n.126A>T c.100A>T n.566A>T c.243A>T (p.Lys81Asn) c.774A>T (p.Lys258Asn) c.333A>T (p.Lys111Asn) c.78A>T (p.Lys26Asn) c.150A>T (p.Lys50Asn) c.-527A>T (n.-527A>T) c.-476A>T (n.-476A>T) | |
| 8 | g.32595857A= | CA1774794611 | NRG1 | c.130A= (p.Ser44=) c.67A= (p.Ser23=) n.127A= c.101A= n.567A= c.244A= (p.Ser82=) c.775A= (p.Ser259=) c.334A= (p.Ser112=) c.79A= (p.Ser27=) c.151A= (p.Ser51=) c.-526A= (n.-526A=) c.-475A= (n.-475A=) | |
| 8 | g.32595857A>C | CA370926049 | NRG1 | c.130A>C (p.Ser44Arg) c.67A>C (p.Ser23Arg) n.127A>C c.101A>C n.567A>C c.244A>C (p.Ser82Arg) c.775A>C (p.Ser259Arg) c.334A>C (p.Ser112Arg) c.79A>C (p.Ser27Arg) c.151A>C (p.Ser51Arg) c.-526A>C (n.-526A>C) c.-475A>C (n.-475A>C) | |
| 8 | g.32595857A>G | CA370926063 | NRG1 | c.130A>G (p.Ser44Gly) c.67A>G (p.Ser23Gly) n.127A>G c.101A>G n.567A>G c.244A>G (p.Ser82Gly) c.775A>G (p.Ser259Gly) c.334A>G (p.Ser112Gly) c.79A>G (p.Ser27Gly) c.151A>G (p.Ser51Gly) c.-526A>G (n.-526A>G) c.-475A>G (n.-475A>G) | |
| 8 | g.32595857A>T | CA370926060 | NRG1 | c.130A>T (p.Ser44Cys) c.67A>T (p.Ser23Cys) n.127A>T c.101A>T n.567A>T c.244A>T (p.Ser82Cys) c.775A>T (p.Ser259Cys) c.334A>T (p.Ser112Cys) c.79A>T (p.Ser27Cys) c.151A>T (p.Ser51Cys) c.-526A>T (n.-526A>T) c.-475A>T (n.-475A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.32595858G>A | CA370926068 | NRG1 | c.131G>A (p.Ser44Asn) c.68G>A (p.Ser23Asn) n.128G>A c.102G>A n.568G>A c.245G>A (p.Ser82Asn) c.776G>A (p.Ser259Asn) c.335G>A (p.Ser112Asn) c.80G>A (p.Ser27Asn) c.152G>A (p.Ser51Asn) c.-525G>A (n.-525G>A) c.-474G>A (n.-474G>A) | gnomAD v4 |
| 8 | g.32595858G>C | CA370926093 | NRG1 | c.131G>C (p.Ser44Thr) c.68G>C (p.Ser23Thr) n.128G>C c.102G>C n.568G>C c.245G>C (p.Ser82Thr) c.776G>C (p.Ser259Thr) c.335G>C (p.Ser112Thr) c.80G>C (p.Ser27Thr) c.152G>C (p.Ser51Thr) c.-525G>C (n.-525G>C) c.-474G>C (n.-474G>C) | COSMIC COSMIC COSMIC COSMIC |
| 8 | g.32595858G>T | CA370926085 | NRG1 | c.131G>T (p.Ser44Ile) c.68G>T (p.Ser23Ile) n.128G>T c.102G>T n.568G>T c.245G>T (p.Ser82Ile) c.776G>T (p.Ser259Ile) c.335G>T (p.Ser112Ile) c.80G>T (p.Ser27Ile) c.152G>T (p.Ser51Ile) c.-525G>T (n.-525G>T) c.-474G>T (n.-474G>T) | gnomAD v4 |
| 8 | g.32595859C>A | CA370926096 | NRG1 | c.132C>A (p.Ser44Arg) c.69C>A (p.Ser23Arg) n.129C>A c.103C>A n.569C>A c.246C>A (p.Ser82Arg) c.777C>A (p.Ser259Arg) c.336C>A (p.Ser112Arg) c.81C>A (p.Ser27Arg) c.153C>A (p.Ser51Arg) c.-524C>A (n.-524C>A) c.-473C>A (n.-473C>A) | |
| 8 | g.32595859C= | CA1774794612 | NRG1 | c.132C= (p.Ser44=) c.69C= (p.Ser23=) n.129C= c.103C= n.569C= c.246C= (p.Ser82=) c.777C= (p.Ser259=) c.336C= (p.Ser112=) c.81C= (p.Ser27=) c.153C= (p.Ser51=) c.-524C= (n.-524C=) c.-473C= (n.-473C=) | |
| 8 | g.32595859C>G | CA370926102 | NRG1 | c.132C>G (p.Ser44Arg) c.69C>G (p.Ser23Arg) n.129C>G c.103C>G n.569C>G c.246C>G (p.Ser82Arg) c.777C>G (p.Ser259Arg) c.336C>G (p.Ser112Arg) c.81C>G (p.Ser27Arg) c.153C>G (p.Ser51Arg) c.-524C>G (n.-524C>G) c.-473C>G (n.-473C>G) | |
| 8 | g.32595859C>T | CA460232643 | NRG1 | c.132C>T (p.Ser44=) c.69C>T (p.Ser23=) n.129C>T c.103C>T n.569C>T c.246C>T (p.Ser82=) c.777C>T (p.Ser259=) c.336C>T (p.Ser112=) c.81C>T (p.Ser27=) c.153C>T (p.Ser51=) c.-524C>T (n.-524C>T) c.-473C>T (n.-473C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.32595860C>A | CA370926107 | NRG1 | c.133C>A (p.Gln45Lys) c.70C>A (p.Gln24Lys) n.130C>A c.104C>A n.570C>A c.247C>A (p.Gln83Lys) c.778C>A (p.Gln260Lys) c.337C>A (p.Gln113Lys) c.82C>A (p.Gln28Lys) c.154C>A (p.Gln52Lys) c.-523C>A (n.-523C>A) c.-472C>A (n.-472C>A) | |
| 8 | g.32595860C>G | CA370926108 | NRG1 | c.133C>G (p.Gln45Glu) c.70C>G (p.Gln24Glu) n.130C>G c.104C>G n.570C>G c.247C>G (p.Gln83Glu) c.778C>G (p.Gln260Glu) c.337C>G (p.Gln113Glu) c.82C>G (p.Gln28Glu) c.154C>G (p.Gln52Glu) c.-523C>G (n.-523C>G) c.-472C>G (n.-472C>G) | |
| 8 | g.32595860C>T | CA370926109 | NRG1 | c.133C>T (p.Gln45Ter) c.70C>T (p.Gln24Ter) n.130C>T c.104C>T n.570C>T c.247C>T (p.Gln83Ter) c.778C>T (p.Gln260Ter) c.337C>T (p.Gln113Ter) c.82C>T (p.Gln28Ter) c.154C>T (p.Gln52Ter) c.-523C>T (n.-523C>T) c.-472C>T (n.-472C>T) | |
| 8 | g.32595861A>C | CA370926112 | NRG1 | c.134A>C (p.Gln45Pro) c.71A>C (p.Gln24Pro) n.131A>C c.105A>C n.571A>C c.248A>C (p.Gln83Pro) c.779A>C (p.Gln260Pro) c.338A>C (p.Gln113Pro) c.83A>C (p.Gln28Pro) c.155A>C (p.Gln52Pro) c.-522A>C (n.-522A>C) c.-471A>C (n.-471A>C) | |
| 8 | g.32595861A>G | CA370926113 | NRG1 | c.134A>G (p.Gln45Arg) c.71A>G (p.Gln24Arg) n.131A>G c.105A>G n.571A>G c.248A>G (p.Gln83Arg) c.779A>G (p.Gln260Arg) c.338A>G (p.Gln113Arg) c.83A>G (p.Gln28Arg) c.155A>G (p.Gln52Arg) c.-522A>G (n.-522A>G) c.-471A>G (n.-471A>G) | |
| 8 | g.32595861A>T | CA370926114 | NRG1 | c.134A>T (p.Gln45Leu) c.71A>T (p.Gln24Leu) n.131A>T c.105A>T n.571A>T c.248A>T (p.Gln83Leu) c.779A>T (p.Gln260Leu) c.338A>T (p.Gln113Leu) c.83A>T (p.Gln28Leu) c.155A>T (p.Gln52Leu) c.-522A>T (n.-522A>T) c.-471A>T (n.-471A>T) | |
| 8 | g.32595862G>A | CA4705479 | NRG1 | c.135G>A (p.Gln45=) c.72G>A (p.Gln24=) n.132G>A c.106G>A n.572G>A c.249G>A (p.Gln83=) c.780G>A (p.Gln260=) c.339G>A (p.Gln113=) c.84G>A (p.Gln28=) c.156G>A (p.Gln52=) c.-521G>A (n.-521G>A) c.-470G>A (n.-470G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.32595862G>C | CA370926122 | NRG1 | c.135G>C (p.Gln45His) c.72G>C (p.Gln24His) n.132G>C c.106G>C n.572G>C c.249G>C (p.Gln83His) c.780G>C (p.Gln260His) c.339G>C (p.Gln113His) c.84G>C (p.Gln28His) c.156G>C (p.Gln52His) c.-521G>C (n.-521G>C) c.-470G>C (n.-470G>C) |