SNP Links for Protein (Select 4507491) - SNP

Links from Protein

Items: 1 to 20 of 792

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Select item 14891715191.

rs1489171519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2811698 (GRCh38)
19:2811696 (GRCh37)
Canonical SPDI:: NC_000019.10:2811697:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2811698C>T, NC_000019.9:g.2811696C>T, NM_003249.5:c.1872C>T, NM_003249.4:c.1872C>T, NM_003249.3:c.1872C>T, XM_011528228.3:c.1245C>T, XM_011528228.2:c.1245C>T, XM_011528228.1:c.1245C>T

Select item 14874447902.

rs1487444790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2790434 (GRCh38)
19:2790432 (GRCh37)
Canonical SPDI:: NC_000019.10:2790433:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2790434C>T, NC_000019.9:g.2790432C>T, NM_003249.5:c.30C>T, NM_003249.4:c.30C>T, NM_003249.3:c.30C>T, XM_047439299.1:c.30C>T

Select item 14871062613.

rs1487106261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2794770 (GRCh38)
19:2794768 (GRCh37)
Canonical SPDI:: NC_000019.10:2794769:G:A
Gene:: THOP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2794770G>A, NC_000019.9:g.2794768G>A, NM_003249.5:c.236G>A, NM_003249.4:c.236G>A, NM_003249.3:c.236G>A, XM_047439299.1:c.236G>A, NP_003240.1:p.Arg79Lys, XP_047295255.1:p.Arg79Lys

Select item 14862590014.

rs1486259001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2808251 (GRCh38)
19:2808249 (GRCh37)
Canonical SPDI:: NC_000019.10:2808250:A:G
Gene:: THOP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000019.10:g.2808251A>G, NC_000019.9:g.2808249A>G, NM_003249.5:c.1262A>G, NM_003249.4:c.1262A>G, NM_003249.3:c.1262A>G, XM_011528228.3:c.635A>G, XM_011528228.2:c.635A>G, XM_011528228.1:c.635A>G, XM_047439299.1:c.1234A>G, NP_003240.1:p.Lys421Arg, XP_011526530.1:p.Lys212Arg, XP_047295255.1:p.Ser412Gly

Select item 14848485105.

rs1484848510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:2794766 (GRCh38)
19:2794764 (GRCh37)
Canonical SPDI:: NC_000019.10:2794765:C:G
Gene:: THOP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2794766C>G, NC_000019.9:g.2794764C>G, NM_003249.5:c.232C>G, NM_003249.4:c.232C>G, NM_003249.3:c.232C>G, XM_047439299.1:c.232C>G, NP_003240.1:p.Gln78Glu, XP_047295255.1:p.Gln78Glu

Select item 14843365986.

rs1484336598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:2805090 (GRCh38)
19:2805088 (GRCh37)
Canonical SPDI:: NC_000019.10:2805089:C:A,NC_000019.10:2805089:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2805090C>A, NC_000019.10:g.2805090C>T, NC_000019.9:g.2805088C>A, NC_000019.9:g.2805088C>T, NM_003249.5:c.664C>A, NM_003249.5:c.664C>T, NM_003249.4:c.664C>A, NM_003249.4:c.664C>T, NM_003249.3:c.664C>A, NM_003249.3:c.664C>T, XM_011528228.3:c.37C>A, XM_011528228.3:c.37C>T, XM_011528228.2:c.37C>A, XM_011528228.2:c.37C>T, XM_011528228.1:c.37C>A, XM_011528228.1:c.37C>T, XM_047439299.1:c.664C>A, XM_047439299.1:c.664C>T, NP_003240.1:p.Pro222Thr, NP_003240.1:p.Pro222Ser, XP_011526530.1:p.Pro13Thr, XP_011526530.1:p.Pro13Ser, XP_047295255.1:p.Pro222Thr, XP_047295255.1:p.Pro222Ser

Select item 14828332247.

rs1482833224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2810305 (GRCh38)
19:2810303 (GRCh37)
Canonical SPDI:: NC_000019.10:2810304:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.2810305C>T, NC_000019.9:g.2810303C>T, NM_003249.5:c.1457C>T, NM_003249.4:c.1457C>T, NM_003249.3:c.1457C>T, XM_011528228.3:c.830C>T, XM_011528228.2:c.830C>T, XM_011528228.1:c.830C>T, XM_047439299.1:c.*22C>T, NP_003240.1:p.Ala486Val, XP_011526530.1:p.Ala277Val

Select item 14821944428.

rs1482194442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2810430 (GRCh38)
19:2810428 (GRCh37)
Canonical SPDI:: NC_000019.10:2810429:G:A
Gene:: THOP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2810430G>A, NC_000019.9:g.2810428G>A, NM_003249.5:c.1582G>A, NM_003249.4:c.1582G>A, NM_003249.3:c.1582G>A, XM_011528228.3:c.955G>A, XM_011528228.2:c.955G>A, XM_011528228.1:c.955G>A, NP_003240.1:p.Gly528Ser, XP_011526530.1:p.Gly319Ser

Select item 14778272859.

rs1477827285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2799727 (GRCh38)
19:2799725 (GRCh37)
Canonical SPDI:: NC_000019.10:2799726:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2799727C>T, NC_000019.9:g.2799725C>T, NM_003249.5:c.525C>T, NM_003249.4:c.525C>T, NM_003249.3:c.525C>T, XM_047439299.1:c.525C>T

Select item 147771208910.

rs1477712089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2810451 (GRCh38)
19:2810449 (GRCh37)
Canonical SPDI:: NC_000019.10:2810450:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2810451C>T, NC_000019.9:g.2810449C>T, NM_003249.5:c.1603C>T, NM_003249.4:c.1603C>T, NM_003249.3:c.1603C>T, XM_011528228.3:c.976C>T, XM_011528228.2:c.976C>T, XM_011528228.1:c.976C>T, NP_003240.1:p.Leu535Phe, XP_011526530.1:p.Leu326Phe

Select item 147765145811.

rs1477651458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2811718 (GRCh38)
19:2811716 (GRCh37)
Canonical SPDI:: NC_000019.10:2811717:G:A
Gene:: THOP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2811718G>A, NC_000019.9:g.2811716G>A, NM_003249.5:c.1892G>A, NM_003249.4:c.1892G>A, NM_003249.3:c.1892G>A, XM_011528228.3:c.1265G>A, XM_011528228.2:c.1265G>A, XM_011528228.1:c.1265G>A, NP_003240.1:p.Gly631Asp, XP_011526530.1:p.Gly422Asp

Select item 147135151812.

rs1471351518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2808258 (GRCh38)
19:2808256 (GRCh37)
Canonical SPDI:: NC_000019.10:2808257:G:A
Gene:: THOP1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2808258G>A, NC_000019.9:g.2808256G>A, NM_003249.5:c.1269G>A, NM_003249.4:c.1269G>A, NM_003249.3:c.1269G>A, XM_011528228.3:c.642G>A, XM_011528228.2:c.642G>A, XM_011528228.1:c.642G>A, XM_047439299.1:c.1241G>A, XP_047295255.1:p.Gly414Asp

Select item 146935756313.

rs1469357563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:2794873 (GRCh38)
19:2794871 (GRCh37)
Canonical SPDI:: NC_000019.10:2794872:C:A
Gene:: THOP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2794873C>A, NC_000019.9:g.2794871C>A, NM_003249.5:c.339C>A, NM_003249.4:c.339C>A, NM_003249.3:c.339C>A, XM_047439299.1:c.339C>A, NP_003240.1:p.Ser113Arg, XP_047295255.1:p.Ser113Arg

Select item 146722018814.

rs1467220188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2805149 (GRCh38)
19:2805147 (GRCh37)
Canonical SPDI:: NC_000019.10:2805148:G:T
Gene:: THOP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.2805149G>T, NC_000019.9:g.2805147G>T, NM_003249.5:c.723G>T, NM_003249.4:c.723G>T, NM_003249.3:c.723G>T, XM_011528228.3:c.96G>T, XM_011528228.2:c.96G>T, XM_011528228.1:c.96G>T, XM_047439299.1:c.723G>T, NP_003240.1:p.Glu241Asp, XP_011526530.1:p.Glu32Asp, XP_047295255.1:p.Glu241Asp

Select item 146701207215.

rs1467012072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2796133 (GRCh38)
19:2796131 (GRCh37)
Canonical SPDI:: NC_000019.10:2796132:G:A,NC_000019.10:2796132:G:C
Gene:: THOP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.2796133G>A, NC_000019.10:g.2796133G>C, NC_000019.9:g.2796131G>A, NC_000019.9:g.2796131G>C, NM_003249.5:c.431G>A, NM_003249.5:c.431G>C, NM_003249.4:c.431G>A, NM_003249.4:c.431G>C, NM_003249.3:c.431G>A, NM_003249.3:c.431G>C, XM_047439299.1:c.431G>A, XM_047439299.1:c.431G>C, NP_003240.1:p.Arg144Gln, NP_003240.1:p.Arg144Pro, XP_047295255.1:p.Arg144Gln, XP_047295255.1:p.Arg144Pro

Select item 146529720316.

rs1465297203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2807688 (GRCh38)
19:2807686 (GRCh37)
Canonical SPDI:: NC_000019.10:2807687:G:A
Gene:: THOP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.2807688G>A, NC_000019.9:g.2807686G>A, NM_003249.5:c.1133G>A, NM_003249.4:c.1133G>A, NM_003249.3:c.1133G>A, XM_011528228.3:c.506G>A, XM_011528228.2:c.506G>A, XM_011528228.1:c.506G>A, XM_047439299.1:c.1133G>A, NP_003240.1:p.Gly378Glu, XP_011526530.1:p.Gly169Glu, XP_047295255.1:p.Gly378Glu

Select item 146517487717.

rs1465174877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2811662 (GRCh38)
19:2811660 (GRCh37)
Canonical SPDI:: NC_000019.10:2811661:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2811662C>T, NC_000019.9:g.2811660C>T, NM_003249.5:c.1836C>T, NM_003249.4:c.1836C>T, NM_003249.3:c.1836C>T, XM_011528228.3:c.1209C>T, XM_011528228.2:c.1209C>T, XM_011528228.1:c.1209C>T

Select item 146416124018.

rs1464161240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2810321 (GRCh38)
19:2810319 (GRCh37)
Canonical SPDI:: NC_000019.10:2810320:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2810321C>T, NC_000019.9:g.2810319C>T, NM_003249.5:c.1473C>T, NM_003249.4:c.1473C>T, NM_003249.3:c.1473C>T, XM_011528228.3:c.846C>T, XM_011528228.2:c.846C>T, XM_011528228.1:c.846C>T, XM_047439299.1:c.*38C>T

Select item 145920219919.

rs1459202199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:2796167 (GRCh38)
19:2796165 (GRCh37)
Canonical SPDI:: NC_000019.10:2796166:C:G,NC_000019.10:2796166:C:T
Gene:: THOP1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2796167C>G, NC_000019.10:g.2796167C>T, NC_000019.9:g.2796165C>G, NC_000019.9:g.2796165C>T, NM_003249.5:c.465C>G, NM_003249.5:c.465C>T, NM_003249.4:c.465C>G, NM_003249.4:c.465C>T, NM_003249.3:c.465C>G, NM_003249.3:c.465C>T, XM_047439299.1:c.465C>G, XM_047439299.1:c.465C>T, NP_003240.1:p.His155Gln, XP_047295255.1:p.His155Gln

Select item 145845399220.

rs1458453992 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAA [Show Flanks]
Chromosome:: 19:2811730 (GRCh38)
19:2811729 (GRCh37)
Canonical SPDI:: NC_000019.10:2811730:CAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAA:CAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGTCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAA
Gene:: THOP1 (Varview)
Functional Consequence:: splice_donor_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: CAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2811770_2811771insTGTCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAA, NC_000019.9:g.2811768_2811769insTGTCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAA

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