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.99891242A= | CA1183933218 | AGL | c.2835A= (p.Glu945=) n.3046A= c.2787A= (p.Glu929=) c.2784A= (p.Glu928=) c.1095A= (p.Glu365=) | |
| 1 | g.99891242A>C | CA341324918 | AGL | c.2835A>C (p.Glu945Asp) n.3046A>C c.2787A>C (p.Glu929Asp) c.2784A>C (p.Glu928Asp) c.1095A>C (p.Glu365Asp) | |
| 1 | g.99891242A>G | CA419314447 | AGL | c.2835A>G (p.Glu945=) n.3046A>G c.2787A>G (p.Glu929=) c.2784A>G (p.Glu928=) c.1095A>G (p.Glu365=) | ClinVar dbSNP |
| 1 | g.99891242A>T | CA966917 | AGL | c.2835A>T (p.Glu945Asp) n.3046A>T c.2787A>T (p.Glu929Asp) c.2784A>T (p.Glu928Asp) c.1095A>T (p.Glu365Asp) | dbSNP ExAC gnomAD v2 |
| 1 | g.99891243A= | CA1144022277 | AGL | c.2836A= (p.Ile946=) n.3047A= c.2788A= (p.Ile930=) c.2785A= (p.Ile929=) c.1096A= (p.Ile366=) | |
| 1 | g.99891243A>C | CA341324927 | AGL | c.2836A>C (p.Ile946Leu) n.3047A>C c.2788A>C (p.Ile930Leu) c.2785A>C (p.Ile929Leu) c.1096A>C (p.Ile366Leu) | |
| 1 | g.99891243A>G | CA27526284 | AGL | c.2836A>G (p.Ile946Val) n.3047A>G c.2788A>G (p.Ile930Val) c.2785A>G (p.Ile929Val) c.1096A>G (p.Ile366Val) | dbSNP gnomAD v4 |
| 1 | g.99891243A>T | CA341324922 | AGL | c.2836A>T (p.Ile946Leu) n.3047A>T c.2788A>T (p.Ile930Leu) c.2785A>T (p.Ile929Leu) c.1096A>T (p.Ile366Leu) | |
| 1 | g.99891244T>A | CA341324928 | AGL | c.2837T>A (p.Ile946Lys) n.3048T>A c.2789T>A (p.Ile930Lys) c.2786T>A (p.Ile929Lys) c.1097T>A (p.Ile366Lys) | |
| 1 | g.99891244T>C | CA341324930 | AGL | c.2837T>C (p.Ile946Thr) n.3048T>C c.2789T>C (p.Ile930Thr) c.2786T>C (p.Ile929Thr) c.1097T>C (p.Ile366Thr) | |
| 1 | g.99891244T>G | CA341324933 | AGL | c.2837T>G (p.Ile946Arg) n.3048T>G c.2789T>G (p.Ile930Arg) c.2786T>G (p.Ile929Arg) c.1097T>G (p.Ile366Arg) | dbSNP |
| 1 | g.99891244T= | CA1183933219 | AGL | c.2837T= (p.Ile946=) n.3048T= c.2789T= (p.Ile930=) c.2786T= (p.Ile929=) c.1097T= (p.Ile366=) | |
| 1 | g.99891245A= | CA1183933220 | AGL | c.2838A= (p.Ile946=) n.3049A= c.2790A= (p.Ile930=) c.2787A= (p.Ile929=) c.1098A= (p.Ile366=) | |
| 1 | g.99891245A>C | CA419314448 | AGL | c.2838A>C (p.Ile946=) n.3049A>C c.2790A>C (p.Ile930=) c.2787A>C (p.Ile929=) c.1098A>C (p.Ile366=) | |
| 1 | g.99891245A>G | CA966918 | AGL | c.2838A>G (p.Ile946Met) n.3049A>G c.2790A>G (p.Ile930Met) c.2787A>G (p.Ile929Met) c.1098A>G (p.Ile366Met) | dbSNP ExAC gnomAD v2 |
| 1 | g.99891245A>T | CA419314449 | AGL | c.2838A>T (p.Ile946=) n.3049A>T c.2790A>T (p.Ile930=) c.2787A>T (p.Ile929=) c.1098A>T (p.Ile366=) | |
| 1 | g.99891246A>C | CA419314450 | AGL | c.2839A>C (p.Arg947=) n.3050A>C c.2791A>C (p.Arg931=) c.2788A>C (p.Arg930=) c.1099A>C (p.Arg367=) | gnomAD v4 |
| 1 | g.99891246A>G | CA341324940 | AGL | c.2839A>G (p.Arg947Gly) n.3050A>G c.2791A>G (p.Arg931Gly) c.2788A>G (p.Arg930Gly) c.1099A>G (p.Arg367Gly) | |
| 1 | g.99891246A>T | CA341324941 | AGL | c.2839A>T (p.Arg947Ter) n.3050A>T c.2791A>T (p.Arg931Ter) c.2788A>T (p.Arg930Ter) c.1099A>T (p.Arg367Ter) | |
| 1 | g.99891247G>A | CA341324944 | AGL | c.2840G>A (p.Arg947Lys) n.3051G>A c.2792G>A (p.Arg931Lys) c.2789G>A (p.Arg930Lys) c.1100G>A (p.Arg367Lys) | ClinVar |
| 1 | g.99891247G>C | CA341324945 | AGL | c.2840G>C (p.Arg947Thr) n.3051G>C c.2792G>C (p.Arg931Thr) c.2789G>C (p.Arg930Thr) c.1100G>C (p.Arg367Thr) | dbSNP |
| 1 | g.99891247G>T | CA341324946 | AGL | c.2840G>T (p.Arg947Ile) n.3051G>T c.2792G>T (p.Arg931Ile) c.2789G>T (p.Arg930Ile) c.1100G>T (p.Arg367Ile) | gnomAD v4 |
| 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) |