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 |
|---|---|---|---|---|---|
| 1 | g.99891248A>C | CA341324948 | AGL | c.2841A>C (p.Arg947Ser) n.3052A>C c.2793A>C (p.Arg931Ser) c.2790A>C (p.Arg930Ser) c.1101A>C (p.Arg367Ser) | |
| 1 | g.99891248A>G | CA419314451 | AGL | c.2841A>G (p.Arg947=) n.3052A>G c.2793A>G (p.Arg931=) c.2790A>G (p.Arg930=) c.1101A>G (p.Arg367=) | |
| 1 | g.99891248A>T | CA341324950 | AGL | c.2841A>T (p.Arg947Ser) n.3052A>T c.2793A>T (p.Arg931Ser) c.2790A>T (p.Arg930Ser) c.1101A>T (p.Arg367Ser) | |
| 1 | g.99891249C>A | CA341324953 | AGL | c.2842C>A (p.Pro948Thr) n.3053C>A c.2794C>A (p.Pro932Thr) c.2791C>A (p.Pro931Thr) c.1102C>A (p.Pro368Thr) | |
| 1 | g.99891249C= | CA1183933221 | AGL | c.2842C= (p.Pro948=) n.3053C= c.2794C= (p.Pro932=) c.2791C= (p.Pro931=) c.1102C= (p.Pro368=) | |
| 1 | g.99891249C>G | CA341324956 | AGL | c.2842C>G (p.Pro948Ala) n.3053C>G c.2794C>G (p.Pro932Ala) c.2791C>G (p.Pro931Ala) c.1102C>G (p.Pro368Ala) | |
| 1 | g.99891249C>T | CA341324958 | AGL | c.2842C>T (p.Pro948Ser) n.3053C>T c.2794C>T (p.Pro932Ser) c.2791C>T (p.Pro931Ser) c.1102C>T (p.Pro368Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891250C>A | CA341324964 | AGL | c.2843C>A (p.Pro948Gln) n.3054C>A c.2795C>A (p.Pro932Gln) c.2792C>A (p.Pro931Gln) c.1103C>A (p.Pro368Gln) | |
| 1 | g.99891250C>G | CA341324966 | AGL | c.2843C>G (p.Pro948Arg) n.3054C>G c.2795C>G (p.Pro932Arg) c.2792C>G (p.Pro931Arg) c.1103C>G (p.Pro368Arg) | |
| 1 | g.99891250C>T | CA341324961 | AGL | c.2843C>T (p.Pro948Leu) n.3054C>T c.2795C>T (p.Pro932Leu) c.2792C>T (p.Pro931Leu) c.1103C>T (p.Pro368Leu) | gnomAD v4 |
| 1 | g.99891251A>C | CA419314452 | AGL | c.2844A>C (p.Pro948=) n.3055A>C c.2796A>C (p.Pro932=) c.2793A>C (p.Pro931=) c.1104A>C (p.Pro368=) | |
| 1 | g.99891251A>G | CA419314453 | AGL | c.2844A>G (p.Pro948=) n.3055A>G c.2796A>G (p.Pro932=) c.2793A>G (p.Pro931=) c.1104A>G (p.Pro368=) | ClinVar |
| 1 | g.99891251A>T | CA419314454 | AGL | c.2844A>T (p.Pro948=) n.3055A>T c.2796A>T (p.Pro932=) c.2793A>T (p.Pro931=) c.1104A>T (p.Pro368=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891252A= | CA1183933222 | AGL | c.2845A= (p.Lys949=) n.3056A= c.2797A= (p.Lys933=) c.2794A= (p.Lys932=) c.1105A= (p.Lys369=) | |
| 1 | g.99891252A>C | CA341324969 | AGL | c.2845A>C (p.Lys949Gln) n.3056A>C c.2797A>C (p.Lys933Gln) c.2794A>C (p.Lys932Gln) c.1105A>C (p.Lys369Gln) | |
| 1 | g.99891252A>G | CA341324972 | AGL | c.2845A>G (p.Lys949Glu) n.3056A>G c.2797A>G (p.Lys933Glu) c.2794A>G (p.Lys932Glu) c.1105A>G (p.Lys369Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891252A>T | CA341324974 | AGL | c.2845A>T (p.Lys949Ter) n.3056A>T c.2797A>T (p.Lys933Ter) c.2794A>T (p.Lys932Ter) c.1105A>T (p.Lys369Ter) | |
| 1 | g.99891253A>C | CA341324977 | AGL | c.2846A>C (p.Lys949Thr) n.3057A>C c.2798A>C (p.Lys933Thr) c.2795A>C (p.Lys932Thr) c.1106A>C (p.Lys369Thr) | |
| 1 | g.99891253A>G | CA341324979 | AGL | c.2846A>G (p.Lys949Arg) n.3057A>G c.2798A>G (p.Lys933Arg) c.2795A>G (p.Lys932Arg) c.1106A>G (p.Lys369Arg) | |
| 1 | g.99891253A>T | CA341324981 | AGL | c.2846A>T (p.Lys949Met) n.3057A>T c.2798A>T (p.Lys933Met) c.2795A>T (p.Lys932Met) c.1106A>T (p.Lys369Met) | |
| 1 | g.99891254G>A | CA419314455 | AGL | c.2847G>A (p.Lys949=) n.3058G>A c.2799G>A (p.Lys933=) c.2796G>A (p.Lys932=) c.1107G>A (p.Lys369=) | ClinVar |
| 1 | g.99891254G>C | CA341324983 | AGL | c.2847G>C (p.Lys949Asn) n.3058G>C c.2799G>C (p.Lys933Asn) c.2796G>C (p.Lys932Asn) c.1107G>C (p.Lys369Asn) | COSMIC COSMIC |
| 1 | g.99891254G>T | CA341324986 | AGL | c.2847G>T (p.Lys949Asn) n.3058G>T c.2799G>T (p.Lys933Asn) c.2796G>T (p.Lys932Asn) c.1107G>T (p.Lys369Asn) | COSMIC COSMIC |
| 1 | g.99891255A>C | CA341324988 | AGL | c.2848A>C (p.Asn950His) n.3059A>C c.2800A>C (p.Asn934His) c.2797A>C (p.Asn933His) c.1108A>C (p.Asn370His) | |
| 1 | g.99891255A>G | CA341324990 | AGL | c.2848A>G (p.Asn950Asp) n.3059A>G c.2800A>G (p.Asn934Asp) c.2797A>G (p.Asn933Asp) c.1108A>G (p.Asn370Asp) | |
| 1 | g.99891255A>T | CA341324992 | AGL | c.2848A>T (p.Asn950Tyr) n.3059A>T c.2800A>T (p.Asn934Tyr) c.2797A>T (p.Asn933Tyr) c.1108A>T (p.Asn370Tyr) | |
| 1 | g.99891256A= | CA1148274275 | AGL | c.2849A= (p.Asn950=) n.3060A= c.2801A= (p.Asn934=) c.2798A= (p.Asn933=) c.1109A= (p.Asn370=) | |
| 1 | g.99891256A>C | CA341324996 | AGL | c.2849A>C (p.Asn950Thr) n.3060A>C c.2801A>C (p.Asn934Thr) c.2798A>C (p.Asn933Thr) c.1109A>C (p.Asn370Thr) | |
| 1 | g.99891256A>G | CA966919 | AGL | c.2849A>G (p.Asn950Ser) n.3060A>G c.2801A>G (p.Asn934Ser) c.2798A>G (p.Asn933Ser) c.1109A>G (p.Asn370Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891256A>T | CA341324998 | AGL | c.2849A>T (p.Asn950Ile) n.3060A>T c.2801A>T (p.Asn934Ile) c.2798A>T (p.Asn933Ile) c.1109A>T (p.Asn370Ile) | |
| 1 | g.99891257T>A | CA341325000 | AGL | c.2850T>A (p.Asn950Lys) n.3061T>A c.2802T>A (p.Asn934Lys) c.2799T>A (p.Asn933Lys) c.1110T>A (p.Asn370Lys) | |
| 1 | g.99891257T>C | CA419314456 | AGL | c.2850T>C (p.Asn950=) n.3061T>C c.2802T>C (p.Asn934=) c.2799T>C (p.Asn933=) c.1110T>C (p.Asn370=) | ClinVar |
| 1 | g.99891257T>G | CA341325001 | AGL | c.2850T>G (p.Asn950Lys) n.3061T>G c.2802T>G (p.Asn934Lys) c.2799T>G (p.Asn933Lys) c.1110T>G (p.Asn370Lys) | |
| 1 | g.99891258G>A | CA341325003 | AGL | c.2851G>A (p.Asp951Asn) n.3062G>A c.2803G>A (p.Asp935Asn) c.2800G>A (p.Asp934Asn) c.1111G>A (p.Asp371Asn) | ClinVar dbSNP |
| 1 | g.99891258G>C | CA341325005 | AGL | c.2851G>C (p.Asp951His) n.3062G>C c.2803G>C (p.Asp935His) c.2800G>C (p.Asp934His) c.1111G>C (p.Asp371His) | |
| 1 | g.99891258G= | CA1183933223 | AGL | c.2851G= (p.Asp951=) n.3062G= c.2803G= (p.Asp935=) c.2800G= (p.Asp934=) c.1111G= (p.Asp371=) | |
| 1 | g.99891258G>T | CA341325009 | AGL | c.2851G>T (p.Asp951Tyr) n.3062G>T c.2803G>T (p.Asp935Tyr) c.2800G>T (p.Asp934Tyr) c.1111G>T (p.Asp371Tyr) | |
| 1 | g.99891259A>C | CA341325010 | AGL | c.2852A>C (p.Asp951Ala) n.3063A>C c.2804A>C (p.Asp935Ala) c.2801A>C (p.Asp934Ala) c.1112A>C (p.Asp371Ala) | |
| 1 | g.99891259A>G | CA341325011 | AGL | c.2852A>G (p.Asp951Gly) n.3063A>G c.2804A>G (p.Asp935Gly) c.2801A>G (p.Asp934Gly) c.1112A>G (p.Asp371Gly) | gnomAD v4 |
| 1 | g.99891259A>T | CA341325012 | AGL | c.2852A>T (p.Asp951Val) n.3063A>T c.2804A>T (p.Asp935Val) c.2801A>T (p.Asp934Val) c.1112A>T (p.Asp371Val) | |
| 1 | g.99891260C>A | CA341325013 | AGL | c.2853C>A (p.Asp951Glu) n.3064C>A c.2805C>A (p.Asp935Glu) c.2802C>A (p.Asp934Glu) c.1113C>A (p.Asp371Glu) | |
| 1 | g.99891260C>G | CA341325014 | AGL | c.2853C>G (p.Asp951Glu) n.3064C>G c.2805C>G (p.Asp935Glu) c.2802C>G (p.Asp934Glu) c.1113C>G (p.Asp371Glu) | |
| 1 | g.99891260C>T | CA419314457 | AGL | c.2853C>T (p.Asp951=) n.3064C>T c.2805C>T (p.Asp935=) c.2802C>T (p.Asp934=) c.1113C>T (p.Asp371=) | |
| 1 | g.99891261T>A | CA341325016 | AGL | c.2854T>A (p.Leu952Met) n.3065T>A c.2806T>A (p.Leu936Met) c.2803T>A (p.Leu935Met) c.1114T>A (p.Leu372Met) | |
| 1 | g.99891261T>C | CA966920 | AGL | c.2854T>C (p.Leu952=) n.3065T>C c.2806T>C (p.Leu936=) c.2803T>C (p.Leu935=) c.1114T>C (p.Leu372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891261T>G | CA341325019 | AGL | c.2854T>G (p.Leu952Val) n.3065T>G c.2806T>G (p.Leu936Val) c.2803T>G (p.Leu935Val) c.1114T>G (p.Leu372Val) | |
| 1 | g.99891261T= | CA1183933224 | AGL | c.2854T= (p.Leu952=) n.3065T= c.2806T= (p.Leu936=) c.2803T= (p.Leu935=) c.1114T= (p.Leu372=) | |
| 1 | g.99891262dup | CA2586967001 | AGL | c.2855dup (p.Leu952PhefsTer7) n.3066dup c.2807dup (p.Leu936PhefsTer7) c.2804dup (p.Leu935PhefsTer7) c.1115dup (p.Leu372PhefsTer7) | |
| 1 | g.99891262T>A | CA341325025 | AGL | c.2855T>A (p.Leu952Ter) n.3066T>A c.2807T>A (p.Leu936Ter) c.2804T>A (p.Leu935Ter) c.1115T>A (p.Leu372Ter) | |
| 1 | g.99891262T>C | CA341325023 | AGL | c.2855T>C (p.Leu952Ser) n.3066T>C c.2807T>C (p.Leu936Ser) c.2804T>C (p.Leu935Ser) c.1115T>C (p.Leu372Ser) |