SNP Links for Protein (Select 209180448) - SNP

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Links from Protein

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Select item 14878418671.

rs1487841867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35323846 (GRCh38)
22:35719839 (GRCh37)
Canonical SPDI:: NC_000022.11:35323845:C:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35323846C>T, NC_000022.10:g.35719839C>T, XM_011529818.3:c.379C>T, XM_011529818.2:c.379C>T, XM_011529818.1:c.379C>T, NM_005488.3:c.580C>T, NM_005488.2:c.580C>T, XM_011529820.3:c.124C>T, XM_011529820.2:c.124C>T, XM_011529820.1:c.124C>T, NR_024194.2:n.644C>T, NR_024194.1:n.734C>T, NM_001135729.2:c.481C>T, NM_001135729.1:c.481C>T, NM_001135732.2:c.580C>T, NM_001135732.1:c.580C>T, NR_024195.2:n.565C>T, NR_024195.1:n.655C>T, NR_156428.2:n.536C>T, NR_156428.1:n.626C>T, NM_001135730.2:c.445C>T, NM_001135730.1:c.445C>T, XM_047441070.1:c.124C>T, XM_047441068.1:c.562C>T, XM_047441069.1:c.562C>T, XP_011528120.1:p.His127Tyr, NP_005479.1:p.His194Tyr, XP_011528122.1:p.His42Tyr, NP_001129201.1:p.His161Tyr, NP_001129204.1:p.His194Tyr, NP_001129202.1:p.His149Tyr, XP_047297026.1:p.His42Tyr, XP_047297024.1:p.His188Tyr, XP_047297025.1:p.His188Tyr

Select item 14877361902.

rs1487736190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35333465 (GRCh38)
22:35729458 (GRCh37)
Canonical SPDI:: NC_000022.11:35333464:C:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35333465C>T, NC_000022.10:g.35729458C>T, XM_011529818.3:c.794C>T, XM_011529818.2:c.794C>T, XM_011529818.1:c.794C>T, NM_005488.3:c.995C>T, NM_005488.2:c.995C>T, XM_011529820.3:c.539C>T, XM_011529820.2:c.539C>T, XM_011529820.1:c.539C>T, NR_024194.2:n.1059C>T, NR_024194.1:n.1149C>T, NM_001135729.2:c.896C>T, NM_001135729.1:c.896C>T, NM_001135732.2:c.995C>T, NM_001135732.1:c.995C>T, NR_024195.2:n.980C>T, NR_024195.1:n.1070C>T, NR_156428.2:n.951C>T, NR_156428.1:n.1041C>T, NM_001135730.2:c.860C>T, NM_001135730.1:c.860C>T, XM_047441070.1:c.539C>T, XM_047441068.1:c.977C>T, XM_047441069.1:c.977C>T, XP_011528120.1:p.Thr265Ile, NP_005479.1:p.Thr332Ile, XP_011528122.1:p.Thr180Ile, NP_001129201.1:p.Thr299Ile, NP_001129204.1:p.Thr332Ile, NP_001129202.1:p.Thr287Ile, XP_047297026.1:p.Thr180Ile, XP_047297024.1:p.Thr326Ile, XP_047297025.1:p.Thr326Ile

Select item 14810799253.

rs1481079925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35327274 (GRCh38)
22:35723267 (GRCh37)
Canonical SPDI:: NC_000022.11:35327273:G:A
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35327274G>A, NC_000022.10:g.35723267G>A, XM_011529818.3:c.451G>A, XM_011529818.2:c.451G>A, XM_011529818.1:c.451G>A, NM_005488.3:c.652G>A, NM_005488.2:c.652G>A, XM_011529820.3:c.196G>A, XM_011529820.2:c.196G>A, XM_011529820.1:c.196G>A, NR_024194.2:n.716G>A, NR_024194.1:n.806G>A, NM_001135729.2:c.553G>A, NM_001135729.1:c.553G>A, NM_001135732.2:c.652G>A, NM_001135732.1:c.652G>A, NR_024195.2:n.637G>A, NR_024195.1:n.727G>A, NR_156428.2:n.608G>A, NR_156428.1:n.698G>A, NM_001135730.2:c.517G>A, NM_001135730.1:c.517G>A, XM_047441070.1:c.196G>A, XM_047441068.1:c.634G>A, XM_047441069.1:c.634G>A, XP_011528120.1:p.Gly151Arg, NP_005479.1:p.Gly218Arg, XP_011528122.1:p.Gly66Arg, NP_001129201.1:p.Gly185Arg, NP_001129204.1:p.Gly218Arg, NP_001129202.1:p.Gly173Arg, XP_047297026.1:p.Gly66Arg, XP_047297024.1:p.Gly212Arg, XP_047297025.1:p.Gly212Arg

Select item 14802889444.

rs1480288944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35345770 (GRCh38)
22:35741763 (GRCh37)
Canonical SPDI:: NC_000022.11:35345769:C:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35345770C>T, NC_000022.10:g.35741763C>T, XM_011529818.3:c.1069C>T, XM_011529818.2:c.1069C>T, XM_011529818.1:c.1069C>T, NM_005488.3:c.1270C>T, NM_005488.2:c.1270C>T, XM_011529820.3:c.814C>T, XM_011529820.2:c.814C>T, XM_011529820.1:c.814C>T, NR_024194.2:n.1334C>T, NR_024194.1:n.1424C>T, NM_001135729.2:c.1171C>T, NM_001135729.1:c.1171C>T, NM_001135732.2:c.1270C>T, NM_001135732.1:c.1270C>T, NR_024195.2:n.1255C>T, NR_024195.1:n.1345C>T, NR_156428.2:n.1226C>T, NR_156428.1:n.1316C>T, NM_001135730.2:c.1135C>T, NM_001135730.1:c.1135C>T, XM_047441070.1:c.814C>T, XM_047441068.1:c.1252C>T, XM_047441069.1:c.1252C>T

Select item 14767973335.

rs1476797333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35333472 (GRCh38)
22:35729465 (GRCh37)
Canonical SPDI:: NC_000022.11:35333471:C:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35333472C>T, NC_000022.10:g.35729465C>T, XM_011529818.3:c.801C>T, XM_011529818.2:c.801C>T, XM_011529818.1:c.801C>T, NM_005488.3:c.1002C>T, NM_005488.2:c.1002C>T, XM_011529820.3:c.546C>T, XM_011529820.2:c.546C>T, XM_011529820.1:c.546C>T, NR_024194.2:n.1066C>T, NR_024194.1:n.1156C>T, NM_001135729.2:c.903C>T, NM_001135729.1:c.903C>T, NM_001135732.2:c.1002C>T, NM_001135732.1:c.1002C>T, NR_024195.2:n.987C>T, NR_024195.1:n.1077C>T, NR_156428.2:n.958C>T, NR_156428.1:n.1048C>T, NM_001135730.2:c.867C>T, NM_001135730.1:c.867C>T, XM_047441070.1:c.546C>T, XM_047441068.1:c.984C>T, XM_047441069.1:c.984C>T

Select item 14747237336.

rs1474723733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:35347167 (GRCh38)
22:35743160 (GRCh37)
Canonical SPDI:: NC_000022.11:35347166:G:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.35347167G>T, NC_000022.10:g.35743160G>T, XM_011529818.3:c.1239G>T, XM_011529818.2:c.1239G>T, XM_011529818.1:c.1239G>T, NM_005488.3:c.1437G>T, NM_005488.2:c.1437G>T, XM_011529820.3:c.984G>T, XM_011529820.2:c.984G>T, XM_011529820.1:c.984G>T, NR_024194.2:n.1501G>T, NR_024194.1:n.1591G>T, NM_001135729.2:c.1341G>T, NM_001135729.1:c.1341G>T, NM_001135732.2:c.1440G>T, NM_001135732.1:c.1440G>T, NR_024195.2:n.1422G>T, NR_024195.1:n.1512G>T, NR_156428.2:n.1393G>T, NR_156428.1:n.1483G>T, NM_001135730.2:c.1302G>T, NM_001135730.1:c.1302G>T, XM_047441070.1:c.981G>T, XM_047441068.1:c.1422G>T, XM_047441069.1:c.1419G>T, XP_011528120.1:p.Lys413Asn, NP_005479.1:p.Lys479Asn, XP_011528122.1:p.Lys328Asn, NP_001129201.1:p.Lys447Asn, NP_001129204.1:p.Lys480Asn, NP_001129202.1:p.Lys434Asn, XP_047297026.1:p.Lys327Asn, XP_047297024.1:p.Lys474Asn, XP_047297025.1:p.Lys473Asn

Select item 14741393517.

rs1474139351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:35346933 (GRCh38)
22:35742926 (GRCh37)
Canonical SPDI:: NC_000022.11:35346932:A:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000318/5 (TOMMO)
T=0.000685/2 (KOREAN)
HGVS:: NC_000022.11:g.35346933A>T, NC_000022.10:g.35742926A>T, XM_011529818.3:c.1087A>T, XM_011529818.2:c.1087A>T, XM_011529818.1:c.1087A>T, NM_005488.3:c.1288A>T, NM_005488.2:c.1288A>T, XM_011529820.3:c.832A>T, XM_011529820.2:c.832A>T, XM_011529820.1:c.832A>T, NR_024194.2:n.1352A>T, NR_024194.1:n.1442A>T, NM_001135729.2:c.1189A>T, NM_001135729.1:c.1189A>T, NM_001135732.2:c.1288A>T, NM_001135732.1:c.1288A>T, NR_024195.2:n.1273A>T, NR_024195.1:n.1363A>T, NR_156428.2:n.1244A>T, NR_156428.1:n.1334A>T, NM_001135730.2:c.1153A>T, NM_001135730.1:c.1153A>T, XM_047441070.1:c.832A>T, XM_047441068.1:c.1270A>T, XM_047441069.1:c.1270A>T, XP_011528120.1:p.Asn363Tyr, NP_005479.1:p.Asn430Tyr, XP_011528122.1:p.Asn278Tyr, NP_001129201.1:p.Asn397Tyr, NP_001129204.1:p.Asn430Tyr, NP_001129202.1:p.Asn385Tyr, XP_047297026.1:p.Asn278Tyr, XP_047297024.1:p.Asn424Tyr, XP_047297025.1:p.Asn424Tyr

Select item 14732570568.

rs1473257056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:35330460 (GRCh38)
22:35726453 (GRCh37)
Canonical SPDI:: NC_000022.11:35330459:T:C
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.35330460T>C, NC_000022.10:g.35726453T>C, XM_011529818.3:c.678T>C, XM_011529818.2:c.678T>C, XM_011529818.1:c.678T>C, NM_005488.3:c.879T>C, NM_005488.2:c.879T>C, XM_011529820.3:c.423T>C, XM_011529820.2:c.423T>C, XM_011529820.1:c.423T>C, NR_024194.2:n.943T>C, NR_024194.1:n.1033T>C, NM_001135729.2:c.780T>C, NM_001135729.1:c.780T>C, NM_001135732.2:c.879T>C, NM_001135732.1:c.879T>C, NR_024195.2:n.864T>C, NR_024195.1:n.954T>C, NR_156428.2:n.835T>C, NR_156428.1:n.925T>C, NM_001135730.2:c.744T>C, NM_001135730.1:c.744T>C, XM_047441070.1:c.423T>C, XM_047441068.1:c.861T>C, XM_047441069.1:c.861T>C

Select item 14731571529.

rs1473157152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35338768 (GRCh38)
22:35734761 (GRCh37)
Canonical SPDI:: NC_000022.11:35338767:C:T
Gene:: TOM1 (Varview), MIR6069 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35338768C>T, NC_000022.10:g.35734761C>T, XM_011529818.3:c.1003C>T, XM_011529818.2:c.1003C>T, XM_011529818.1:c.1003C>T, NM_005488.3:c.1204C>T, NM_005488.2:c.1204C>T, XM_011529820.3:c.748C>T, XM_011529820.2:c.748C>T, XM_011529820.1:c.748C>T, NR_024194.2:n.1268C>T, NR_024194.1:n.1358C>T, NM_001135729.2:c.1105C>T, NM_001135729.1:c.1105C>T, NM_001135732.2:c.1204C>T, NM_001135732.1:c.1204C>T, NR_024195.2:n.1189C>T, NR_024195.1:n.1279C>T, NR_156428.2:n.1160C>T, NR_156428.1:n.1250C>T, NM_001135730.2:c.1069C>T, NM_001135730.1:c.1069C>T, XM_047441070.1:c.748C>T, XM_047441068.1:c.1186C>T, XM_047441069.1:c.1186C>T, XP_011528120.1:p.Arg335Trp, NP_005479.1:p.Arg402Trp, XP_011528122.1:p.Arg250Trp, NP_001129201.1:p.Arg369Trp, NP_001129204.1:p.Arg402Trp, NP_001129202.1:p.Arg357Trp, XP_047297026.1:p.Arg250Trp, XP_047297024.1:p.Arg396Trp, XP_047297025.1:p.Arg396Trp

Select item 147228010910.

rs1472280109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:35327289 (GRCh38)
22:35723282 (GRCh37)
Canonical SPDI:: NC_000022.11:35327288:G:C
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.35327289G>C, NC_000022.10:g.35723282G>C, XM_011529818.3:c.466G>C, XM_011529818.2:c.466G>C, XM_011529818.1:c.466G>C, NM_005488.3:c.667G>C, NM_005488.2:c.667G>C, XM_011529820.3:c.211G>C, XM_011529820.2:c.211G>C, XM_011529820.1:c.211G>C, NR_024194.2:n.731G>C, NR_024194.1:n.821G>C, NM_001135729.2:c.568G>C, NM_001135729.1:c.568G>C, NM_001135732.2:c.667G>C, NM_001135732.1:c.667G>C, NR_024195.2:n.652G>C, NR_024195.1:n.742G>C, NR_156428.2:n.623G>C, NR_156428.1:n.713G>C, NM_001135730.2:c.532G>C, NM_001135730.1:c.532G>C, XM_047441070.1:c.211G>C, XM_047441068.1:c.649G>C, XM_047441069.1:c.649G>C, XP_011528120.1:p.Glu156Gln, NP_005479.1:p.Glu223Gln, XP_011528122.1:p.Glu71Gln, NP_001129201.1:p.Glu190Gln, NP_001129204.1:p.Glu223Gln, NP_001129202.1:p.Glu178Gln, XP_047297026.1:p.Glu71Gln, XP_047297024.1:p.Glu217Gln, XP_047297025.1:p.Glu217Gln

Select item 147149847311.

rs1471498473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:35334380 (GRCh38)
22:35730373 (GRCh37)
Canonical SPDI:: NC_000022.11:35334379:T:C
Gene:: TOM1 (Varview), MIR3909 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35334380T>C, NC_000022.10:g.35730373T>C, XM_011529818.3:c.879T>C, XM_011529818.2:c.879T>C, XM_011529818.1:c.879T>C, NM_005488.3:c.1080T>C, NM_005488.2:c.1080T>C, XM_011529820.3:c.624T>C, XM_011529820.2:c.624T>C, XM_011529820.1:c.624T>C, NR_024194.2:n.1144T>C, NR_024194.1:n.1234T>C, NM_001135729.2:c.981T>C, NM_001135729.1:c.981T>C, NM_001135732.2:c.1080T>C, NM_001135732.1:c.1080T>C, NR_024195.2:n.1065T>C, NR_024195.1:n.1155T>C, NR_156428.2:n.1036T>C, NR_156428.1:n.1126T>C, NM_001135730.2:c.945T>C, NM_001135730.1:c.945T>C, XM_047441070.1:c.624T>C, XM_047441068.1:c.1062T>C, XM_047441069.1:c.1062T>C

Select item 147008679412.

rs1470086794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:35330390 (GRCh38)
22:35726383 (GRCh37)
Canonical SPDI:: NC_000022.11:35330389:A:C
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35330390A>C, NC_000022.10:g.35726383A>C, XM_011529818.3:c.608A>C, XM_011529818.2:c.608A>C, XM_011529818.1:c.608A>C, NM_005488.3:c.809A>C, NM_005488.2:c.809A>C, XM_011529820.3:c.353A>C, XM_011529820.2:c.353A>C, XM_011529820.1:c.353A>C, NR_024194.2:n.873A>C, NR_024194.1:n.963A>C, NM_001135729.2:c.710A>C, NM_001135729.1:c.710A>C, NM_001135732.2:c.809A>C, NM_001135732.1:c.809A>C, NR_024195.2:n.794A>C, NR_024195.1:n.884A>C, NR_156428.2:n.765A>C, NR_156428.1:n.855A>C, NM_001135730.2:c.674A>C, NM_001135730.1:c.674A>C, XM_047441070.1:c.353A>C, XM_047441068.1:c.791A>C, XM_047441069.1:c.791A>C, XP_011528120.1:p.Glu203Ala, NP_005479.1:p.Glu270Ala, XP_011528122.1:p.Glu118Ala, NP_001129201.1:p.Glu237Ala, NP_001129204.1:p.Glu270Ala, NP_001129202.1:p.Glu225Ala, XP_047297026.1:p.Glu118Ala, XP_047297024.1:p.Glu264Ala, XP_047297025.1:p.Glu264Ala

Select item 146869457313.

rs1468694573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35323121 (GRCh38)
22:35719114 (GRCh37)
Canonical SPDI:: NC_000022.11:35323120:C:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35323121C>T, NC_000022.10:g.35719114C>T, XM_011529818.3:c.109C>T, XM_011529818.2:c.109C>T, XM_011529818.1:c.109C>T, NM_005488.3:c.310C>T, NM_005488.2:c.310C>T, XM_011529820.3:c.-147C>T, XM_011529820.2:c.-147C>T, XM_011529820.1:c.-147C>T, NR_024194.2:n.374C>T, NR_024194.1:n.464C>T, NM_001135729.2:c.211C>T, NM_001135729.1:c.211C>T, NM_001135732.2:c.310C>T, NM_001135732.1:c.310C>T, NR_024195.2:n.295C>T, NR_024195.1:n.385C>T, NR_156428.2:n.266C>T, NR_156428.1:n.356C>T, NM_001135730.2:c.310C>T, NM_001135730.1:c.310C>T, XM_047441070.1:c.-147C>T, XM_047441068.1:c.292C>T, XM_047441069.1:c.292C>T

Select item 146762836214.

rs1467628362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35317936 (GRCh38)
22:35713929 (GRCh37)
Canonical SPDI:: NC_000022.11:35317935:G:A
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35317936G>A, NC_000022.10:g.35713929G>A, XM_011529818.3:c.-196G>A, XM_011529818.2:c.-196G>A, XM_011529818.1:c.-196G>A, NM_005488.3:c.112G>A, NM_005488.2:c.112G>A, XM_011529820.3:c.-266G>A, XM_011529820.2:c.-266G>A, XM_011529820.1:c.-266G>A, NR_024194.2:n.147G>A, NR_024194.1:n.237G>A, NM_001135729.2:c.13G>A, NM_001135729.1:c.13G>A, NM_001135732.2:c.112G>A, NM_001135732.1:c.112G>A, NR_024195.2:n.147G>A, NR_024195.1:n.237G>A, NR_156428.2:n.147G>A, NR_156428.1:n.237G>A, NM_001135730.2:c.112G>A, NM_001135730.1:c.112G>A, XM_047441070.1:c.-433G>A, XM_047441068.1:c.112G>A, XM_047441069.1:c.112G>A, NP_005479.1:p.Asp38Asn, NP_001129201.1:p.Asp5Asn, NP_001129204.1:p.Asp38Asn, NP_001129202.1:p.Asp38Asn, XP_047297024.1:p.Asp38Asn, XP_047297025.1:p.Asp38Asn

Select item 146547594115.

rs1465475941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35345766 (GRCh38)
22:35741759 (GRCh37)
Canonical SPDI:: NC_000022.11:35345765:G:A
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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_000022.11:g.35345766G>A, NC_000022.10:g.35741759G>A, XM_011529818.3:c.1065G>A, XM_011529818.2:c.1065G>A, XM_011529818.1:c.1065G>A, NM_005488.3:c.1266G>A, NM_005488.2:c.1266G>A, XM_011529820.3:c.810G>A, XM_011529820.2:c.810G>A, XM_011529820.1:c.810G>A, NR_024194.2:n.1330G>A, NR_024194.1:n.1420G>A, NM_001135729.2:c.1167G>A, NM_001135729.1:c.1167G>A, NM_001135732.2:c.1266G>A, NM_001135732.1:c.1266G>A, NR_024195.2:n.1251G>A, NR_024195.1:n.1341G>A, NR_156428.2:n.1222G>A, NR_156428.1:n.1312G>A, NM_001135730.2:c.1131G>A, NM_001135730.1:c.1131G>A, XM_047441070.1:c.810G>A, XM_047441068.1:c.1248G>A, XM_047441069.1:c.1248G>A

Select item 146218177516.

rs1462181775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:35327316 (GRCh38)
22:35723309 (GRCh37)
Canonical SPDI:: NC_000022.11:35327315:A:C
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35327316A>C, NC_000022.10:g.35723309A>C, XM_011529818.3:c.493A>C, XM_011529818.2:c.493A>C, XM_011529818.1:c.493A>C, NM_005488.3:c.694A>C, NM_005488.2:c.694A>C, XM_011529820.3:c.238A>C, XM_011529820.2:c.238A>C, XM_011529820.1:c.238A>C, NR_024194.2:n.758A>C, NR_024194.1:n.848A>C, NM_001135729.2:c.595A>C, NM_001135729.1:c.595A>C, NM_001135732.2:c.694A>C, NM_001135732.1:c.694A>C, NR_024195.2:n.679A>C, NR_024195.1:n.769A>C, NR_156428.2:n.650A>C, NR_156428.1:n.740A>C, NM_001135730.2:c.559A>C, NM_001135730.1:c.559A>C, XM_047441070.1:c.238A>C, XM_047441068.1:c.676A>C, XM_047441069.1:c.676A>C

Select item 146207466617.

rs1462074666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35323518 (GRCh38)
22:35719511 (GRCh37)
Canonical SPDI:: NC_000022.11:35323517:G:A
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.35323518G>A, NC_000022.10:g.35719511G>A, XM_011529818.3:c.188G>A, XM_011529818.2:c.188G>A, XM_011529818.1:c.188G>A, NM_005488.3:c.389G>A, NM_005488.2:c.389G>A, XM_011529820.3:c.-68G>A, XM_011529820.2:c.-68G>A, XM_011529820.1:c.-68G>A, NR_024194.2:n.453G>A, NR_024194.1:n.543G>A, NM_001135729.2:c.290G>A, NM_001135729.1:c.290G>A, NM_001135732.2:c.389G>A, NM_001135732.1:c.389G>A, NR_024195.2:n.374G>A, NR_024195.1:n.464G>A, NR_156428.2:n.345G>A, NR_156428.1:n.435G>A, XM_047441070.1:c.-68G>A, XM_047441068.1:c.371G>A, XM_047441069.1:c.371G>A, XP_011528120.1:p.Ser63Asn, NP_005479.1:p.Ser130Asn, NP_001129201.1:p.Ser97Asn, NP_001129204.1:p.Ser130Asn, XP_047297024.1:p.Ser124Asn, XP_047297025.1:p.Ser124Asn

Select item 145877631518.

rs1458776315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:35327303 (GRCh38)
22:35723296 (GRCh37)
Canonical SPDI:: NC_000022.11:35327302:G:T
Gene:: TOM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35327303G>T, NC_000022.10:g.35723296G>T, XM_011529818.3:c.480G>T, XM_011529818.2:c.480G>T, XM_011529818.1:c.480G>T, NM_005488.3:c.681G>T, NM_005488.2:c.681G>T, XM_011529820.3:c.225G>T, XM_011529820.2:c.225G>T, XM_011529820.1:c.225G>T, NR_024194.2:n.745G>T, NR_024194.1:n.835G>T, NM_001135729.2:c.582G>T, NM_001135729.1:c.582G>T, NM_001135732.2:c.681G>T, NM_001135732.1:c.681G>T, NR_024195.2:n.666G>T, NR_024195.1:n.756G>T, NR_156428.2:n.637G>T, NR_156428.1:n.727G>T, NM_001135730.2:c.546G>T, NM_001135730.1:c.546G>T, XM_047441070.1:c.225G>T, XM_047441068.1:c.663G>T, XM_047441069.1:c.663G>T

Select item 145806844319.

rs1458068443 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 22:35338727 (GRCh38)
22:35734720 (GRCh37)
Canonical SPDI:: NC_000022.11:35338726:CCCCCC:CCCCC,NC_000022.11:35338726:CCCCCC:CCCCCCC
Gene:: TOM1 (Varview), MIR6069 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.35338732del, NC_000022.11:g.35338732dup, NC_000022.10:g.35734725del, NC_000022.10:g.35734725dup, XM_011529818.3:c.967del, XM_011529818.3:c.967dup, XM_011529818.2:c.967del, XM_011529818.2:c.967dup, XM_011529818.1:c.967del, XM_011529818.1:c.967dup, NM_005488.3:c.1168del, NM_005488.3:c.1168dup, NM_005488.2:c.1168del, NM_005488.2:c.1168dup, XM_011529820.3:c.712del, XM_011529820.3:c.712dup, XM_011529820.2:c.712del, XM_011529820.2:c.712dup, XM_011529820.1:c.712del, XM_011529820.1:c.712dup, NR_024194.2:n.1232del, NR_024194.2:n.1232dup, NR_024194.1:n.1322del, NR_024194.1:n.1322dup, NM_001135729.2:c.1069del, NM_001135729.2:c.1069dup, NM_001135729.1:c.1069del, NM_001135729.1:c.1069dup, NM_001135732.2:c.1168del, NM_001135732.2:c.1168dup, NM_001135732.1:c.1168del, NM_001135732.1:c.1168dup, NR_024195.2:n.1153del, NR_024195.2:n.1153dup, NR_024195.1:n.1243del, NR_024195.1:n.1243dup, NR_156428.2:n.1124del, NR_156428.2:n.1124dup, NR_156428.1:n.1214del, NR_156428.1:n.1214dup, NM_001135730.2:c.1033del, NM_001135730.2:c.1033dup, NM_001135730.1:c.1033del, NM_001135730.1:c.1033dup, XM_047441070.1:c.712del, XM_047441070.1:c.712dup, XM_047441068.1:c.1150del, XM_047441068.1:c.1150dup, XM_047441069.1:c.1150del, XM_047441069.1:c.1150dup, XP_011528120.1:p.Gln323fs, XP_011528120.1:p.Gln323fs, NP_005479.1:p.Gln390fs, NP_005479.1:p.Gln390fs, XP_011528122.1:p.Gln238fs, XP_011528122.1:p.Gln238fs, NP_001129201.1:p.Gln357fs, NP_001129201.1:p.Gln357fs, NP_001129204.1:p.Gln390fs, NP_001129204.1:p.Gln390fs, NP_001129202.1:p.Gln345fs, NP_001129202.1:p.Gln345fs, XP_047297026.1:p.Gln238fs, XP_047297026.1:p.Gln238fs, XP_047297024.1:p.Gln384fs, XP_047297024.1:p.Gln384fs, XP_047297025.1:p.Gln384fs, XP_047297025.1:p.Gln384fs

Select item 145803010420.

rs1458030104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:35334444 (GRCh38)
22:35730437 (GRCh37)
Canonical SPDI:: NC_000022.11:35334443:A:G
Gene:: TOM1 (Varview), MIR3909 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35334444A>G, NC_000022.10:g.35730437A>G, XM_011529818.3:c.943A>G, XM_011529818.2:c.943A>G, XM_011529818.1:c.943A>G, NM_005488.3:c.1144A>G, NM_005488.2:c.1144A>G, XM_011529820.3:c.688A>G, XM_011529820.2:c.688A>G, XM_011529820.1:c.688A>G, NR_024194.2:n.1208A>G, NR_024194.1:n.1298A>G, NM_001135729.2:c.1045A>G, NM_001135729.1:c.1045A>G, NM_001135732.2:c.1144A>G, NM_001135732.1:c.1144A>G, NR_024195.2:n.1129A>G, NR_024195.1:n.1219A>G, NR_156428.2:n.1100A>G, NR_156428.1:n.1190A>G, NM_001135730.2:c.1009A>G, NM_001135730.1:c.1009A>G, XM_047441070.1:c.688A>G, XM_047441068.1:c.1126A>G, XM_047441069.1:c.1126A>G, XP_011528120.1:p.Lys315Glu, NP_005479.1:p.Lys382Glu, XP_011528122.1:p.Lys230Glu, NP_001129201.1:p.Lys349Glu, NP_001129204.1:p.Lys382Glu, NP_001129202.1:p.Lys337Glu, XP_047297026.1:p.Lys230Glu, XP_047297024.1:p.Lys376Glu, XP_047297025.1:p.Lys376Glu

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