SNP Links for Protein (Select 11225266) - SNP

Links from Protein

Items: 1 to 20 of 1487

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Select item 14896102241.

rs1489610224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2414118 (GRCh38)
11:2435348 (GRCh37)
Canonical SPDI:: NC_000011.10:2414117:G:T
Gene:: TRPM5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000011.10:g.2414118G>T, NC_000011.9:g.2435348G>T, NM_014555.4:c.1833C>A, NM_014555.3:c.1833C>A, XM_017017628.2:c.1887C>A, XM_017017628.1:c.1887C>A, XM_047426858.1:c.1887C>A, XM_047426859.1:c.684C>A, NP_055370.1:p.Cys611Ter, XP_016873117.1:p.Cys629Ter, XP_047282814.1:p.Cys629Ter, XP_047282815.1:p.Cys228Ter

Select item 14889783542.

rs1488978354 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:2415398 (GRCh38)
11:2436628 (GRCh37)
Canonical SPDI:: NC_000011.10:2415397:T:
Gene:: TRPM5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2415398del, NC_000011.9:g.2436628del, NM_014555.4:c.1202del, NM_014555.3:c.1202del, XM_017017628.2:c.1256del, XM_017017628.1:c.1256del, XM_047426858.1:c.1256del, XM_047426859.1:c.53del, NP_055370.1:p.Asp401fs, XP_016873117.1:p.Asp419fs, XP_047282814.1:p.Asp419fs, XP_047282815.1:p.Asp18fs

Select item 14881709423.

rs1488170942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2404938 (GRCh38)
11:2426168 (GRCh37)
Canonical SPDI:: NC_000011.10:2404937:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,terminator_codon_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2404938C>T, NC_000011.9:g.2426168C>T, NM_014555.4:c.3497G>A, NM_014555.3:c.3497G>A, XM_047426858.1:c.3554G>A, XM_047426859.1:c.2375G>A

Select item 14876493844.

rs1487649384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:2414908 (GRCh38)
11:2436138 (GRCh37)
Canonical SPDI:: NC_000011.10:2414907:A:G
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2414908A>G, NC_000011.9:g.2436138A>G, NM_014555.4:c.1619T>C, NM_014555.3:c.1619T>C, XM_017017628.2:c.1673T>C, XM_017017628.1:c.1673T>C, XM_047426858.1:c.1673T>C, XM_047426859.1:c.470T>C, NP_055370.1:p.Met540Thr, XP_016873117.1:p.Met558Thr, XP_047282814.1:p.Met558Thr, XP_047282815.1:p.Met157Thr

Select item 14871176165.

rs1487117616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2422230 (GRCh38)
11:2443460 (GRCh37)
Canonical SPDI:: NC_000011.10:2422229:G:A
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2422230G>A, NC_000011.9:g.2443460G>A, NM_014555.4:c.209C>T, NM_014555.3:c.209C>T, XM_017017628.2:c.263C>T, XM_017017628.1:c.263C>T, XM_047426858.1:c.263C>T, NP_055370.1:p.Ser70Phe, XP_016873117.1:p.Ser88Phe, XP_047282814.1:p.Ser88Phe

Select item 14870620426.

rs1487062042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2418358 (GRCh38)
11:2439588 (GRCh37)
Canonical SPDI:: NC_000011.10:2418357:T:C
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000011.10:g.2418358T>C, NC_000011.9:g.2439588T>C, NM_014555.4:c.715A>G, NM_014555.3:c.715A>G, XM_017017628.2:c.769A>G, XM_017017628.1:c.769A>G, XM_047426858.1:c.769A>G, NP_055370.1:p.Arg239Gly, XP_016873117.1:p.Arg257Gly, XP_047282814.1:p.Arg257Gly

Select item 14870154707.

rs1487015470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2416013 (GRCh38)
11:2437243 (GRCh37)
Canonical SPDI:: NC_000011.10:2416012:G:C
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2416013G>C, NC_000011.9:g.2437243G>C, NM_014555.4:c.1021C>G, NM_014555.3:c.1021C>G, XM_017017628.2:c.1075C>G, XM_017017628.1:c.1075C>G, XM_047426858.1:c.1075C>G, XM_047426859.1:c.-129C>G, NP_055370.1:p.His341Asp, XP_016873117.1:p.His359Asp, XP_047282814.1:p.His359Asp

Select item 14866693438.

rs1486669343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2414173 (GRCh38)
11:2435403 (GRCh37)
Canonical SPDI:: NC_000011.10:2414172:G:A
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2414173G>A, NC_000011.9:g.2435403G>A, NM_014555.4:c.1778C>T, NM_014555.3:c.1778C>T, XM_017017628.2:c.1832C>T, XM_017017628.1:c.1832C>T, XM_047426858.1:c.1832C>T, XM_047426859.1:c.629C>T, NP_055370.1:p.Ala593Val, XP_016873117.1:p.Ala611Val, XP_047282814.1:p.Ala611Val, XP_047282815.1:p.Ala210Val

Select item 14865353309.

rs1486535330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2405528 (GRCh38)
11:2426758 (GRCh37)
Canonical SPDI:: NC_000011.10:2405527:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2405528C>T, NC_000011.9:g.2426758C>T, NM_014555.4:c.3390G>A, NM_014555.3:c.3390G>A, XM_017017628.2:c.3468G>A, XM_017017628.1:c.3468G>A, XM_047426858.1:c.3444G>A, XM_047426859.1:c.2265G>A

Select item 148599715210.

rs1485997152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2417771 (GRCh38)
11:2439001 (GRCh37)
Canonical SPDI:: NC_000011.10:2417770:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.2417771C>T, NC_000011.9:g.2439001C>T, NM_014555.4:c.965G>A, NM_014555.3:c.965G>A, XM_017017628.2:c.1019G>A, XM_017017628.1:c.1019G>A, XM_047426858.1:c.1019G>A, NP_055370.1:p.Gly322Asp, XP_016873117.1:p.Gly340Asp, XP_047282814.1:p.Gly340Asp

Select item 148583260411.

rs1485832604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2418225 (GRCh38)
11:2439455 (GRCh37)
Canonical SPDI:: NC_000011.10:2418224:T:C
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2418225T>C, NC_000011.9:g.2439455T>C, NM_014555.4:c.848A>G, NM_014555.3:c.848A>G, XM_017017628.2:c.902A>G, XM_017017628.1:c.902A>G, XM_047426858.1:c.902A>G, NP_055370.1:p.Lys283Arg, XP_016873117.1:p.Lys301Arg, XP_047282814.1:p.Lys301Arg

Select item 148551889512.

rs1485518895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2420364 (GRCh38)
11:2441594 (GRCh37)
Canonical SPDI:: NC_000011.10:2420363:G:A
Gene:: TRPM5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2420364G>A, NC_000011.9:g.2441594G>A, NM_014555.4:c.507C>T, NM_014555.3:c.507C>T, XM_017017628.2:c.561C>T, XM_017017628.1:c.561C>T, XM_047426858.1:c.561C>T

Select item 148515587413.

rs1485155874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2407177 (GRCh38)
11:2428407 (GRCh37)
Canonical SPDI:: NC_000011.10:2407176:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.2407177C>T, NC_000011.9:g.2428407C>T, NM_014555.4:c.3060G>A, NM_014555.3:c.3060G>A, XM_017017628.2:c.3114G>A, XM_017017628.1:c.3114G>A, XM_047426858.1:c.3114G>A, XM_047426859.1:c.1911G>A

Select item 148501167714.

rs1485011677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2413225 (GRCh38)
11:2434455 (GRCh37)
Canonical SPDI:: NC_000011.10:2413224:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.2413225C>T, NC_000011.9:g.2434455C>T, NM_014555.4:c.2005G>A, NM_014555.3:c.2005G>A, XM_017017628.2:c.2059G>A, XM_017017628.1:c.2059G>A, XM_047426858.1:c.2059G>A, XM_047426859.1:c.856G>A, NP_055370.1:p.Glu669Lys, XP_016873117.1:p.Glu687Lys, XP_047282814.1:p.Glu687Lys, XP_047282815.1:p.Glu286Lys

Select item 148482796515.

rs1484827965 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGACCAGCAGGAGG>-,GTGACCAGCAGGAGGGTGACCAGCAGGAGG [Show Flanks]
Chromosome:: 11:2407813 (GRCh38)
11:2429043 (GRCh37)
Canonical SPDI:: NC_000011.10:2407811:GGTGACCAGCAGGAGG:G,NC_000011.10:2407811:GGTGACCAGCAGGAGG:GGTGACCAGCAGGAGGGTGACCAGCAGGAGG
Gene:: TRPM5 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GGTGACCAGCAGGAGGGTGACCAGCAGGAGG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
GGTGACCAGCAGGAG=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2407813_2407827del, NC_000011.10:g.2407813_2407827dup, NC_000011.9:g.2429043_2429057del, NC_000011.9:g.2429043_2429057dup, NM_014555.4:c.2869_2883del, NM_014555.4:c.2869_2883dup, NM_014555.3:c.2869_2883del, NM_014555.3:c.2869_2883dup, XM_017017628.2:c.2923_2937del, XM_017017628.2:c.2923_2937dup, XM_017017628.1:c.2923_2937del, XM_017017628.1:c.2923_2937dup, XM_047426858.1:c.2923_2937del, XM_047426858.1:c.2923_2937dup, XM_047426859.1:c.1720_1734del, XM_047426859.1:c.1720_1734dup, NP_055370.1:p.Leu957_Thr961del, NP_055370.1:p.Leu957_Thr961dup, XP_016873117.1:p.Leu975_Thr979del, XP_016873117.1:p.Leu975_Thr979dup, XP_047282814.1:p.Leu975_Thr979del, XP_047282814.1:p.Leu975_Thr979dup, XP_047282815.1:p.Leu574_Thr578del, XP_047282815.1:p.Leu574_Thr578dup

Select item 148427305416.

rs1484273054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2407174 (GRCh38)
11:2428404 (GRCh37)
Canonical SPDI:: NC_000011.10:2407173:G:T
Gene:: TRPM5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.2407174G>T, NC_000011.9:g.2428404G>T, NM_014555.4:c.3063C>A, NM_014555.3:c.3063C>A, XM_017017628.2:c.3117C>A, XM_017017628.1:c.3117C>A, XM_047426858.1:c.3117C>A, XM_047426859.1:c.1914C>A, NP_055370.1:p.Ser1021Arg, XP_016873117.1:p.Ser1039Arg, XP_047282814.1:p.Ser1039Arg, XP_047282815.1:p.Ser638Arg

Select item 148403569017.

rs1484035690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:2418530 (GRCh38)
11:2439760 (GRCh37)
Canonical SPDI:: NC_000011.10:2418529:C:A,NC_000011.10:2418529:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2418530C>A, NC_000011.10:g.2418530C>T, NC_000011.9:g.2439760C>A, NC_000011.9:g.2439760C>T, NM_014555.4:c.711G>T, NM_014555.4:c.711G>A, NM_014555.3:c.711G>T, NM_014555.3:c.711G>A, XM_017017628.2:c.765G>T, XM_017017628.2:c.765G>A, XM_017017628.1:c.765G>T, XM_017017628.1:c.765G>A, XM_047426858.1:c.765G>T, XM_047426858.1:c.765G>A, NP_055370.1:p.Leu237Phe, XP_016873117.1:p.Leu255Phe, XP_047282814.1:p.Leu255Phe

Select item 148357271418.

rs1483572714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:2422214 (GRCh38)
11:2443444 (GRCh37)
Canonical SPDI:: NC_000011.10:2422213:C:G
Gene:: TRPM5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2422214C>G, NC_000011.9:g.2443444C>G, NM_014555.4:c.225G>C, NM_014555.3:c.225G>C, XM_017017628.2:c.279G>C, XM_017017628.1:c.279G>C, XM_047426858.1:c.279G>C, NP_055370.1:p.Glu75Asp, XP_016873117.1:p.Glu93Asp, XP_047282814.1:p.Glu93Asp

Select item 148352485119.

rs1483524851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2415284 (GRCh38)
11:2436514 (GRCh37)
Canonical SPDI:: NC_000011.10:2415283:G:A,NC_000011.10:2415283:G:T
Gene:: TRPM5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2415284G>A, NC_000011.10:g.2415284G>T, NC_000011.9:g.2436514G>A, NC_000011.9:g.2436514G>T, NM_014555.4:c.1316C>T, NM_014555.4:c.1316C>A, NM_014555.3:c.1316C>T, NM_014555.3:c.1316C>A, XM_017017628.2:c.1370C>T, XM_017017628.2:c.1370C>A, XM_017017628.1:c.1370C>T, XM_017017628.1:c.1370C>A, XM_047426858.1:c.1370C>T, XM_047426858.1:c.1370C>A, XM_047426859.1:c.167C>T, XM_047426859.1:c.167C>A, NP_055370.1:p.Ala439Val, NP_055370.1:p.Ala439Asp, XP_016873117.1:p.Ala457Val, XP_016873117.1:p.Ala457Asp, XP_047282814.1:p.Ala457Val, XP_047282814.1:p.Ala457Asp, XP_047282815.1:p.Ala56Val, XP_047282815.1:p.Ala56Asp

Select item 148266722820.

rs1482667228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2411406 (GRCh38)
11:2432636 (GRCh37)
Canonical SPDI:: NC_000011.10:2411405:G:A
Gene:: TRPM5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2411406G>A, NC_000011.9:g.2432636G>A, NM_014555.4:c.2728C>T, NM_014555.3:c.2728C>T, XM_017017628.2:c.2782C>T, XM_017017628.1:c.2782C>T, XM_047426858.1:c.2782C>T, XM_047426859.1:c.1579C>T, NP_055370.1:p.Leu910Phe, XP_016873117.1:p.Leu928Phe, XP_047282814.1:p.Leu928Phe, XP_047282815.1:p.Leu527Phe

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