SNP Links for Protein (Select 571026643) - SNP

Links from Protein

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Select item 14898945551.

rs1489894555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:17884645 (GRCh38)
17:17787959 (GRCh37)
Canonical SPDI:: NC_000017.11:17884644:T:A
Gene:: TOM1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17884645T>A, NC_000017.10:g.17787959T>A, NG_053113.1:g.92826A>T, NM_001033551.3:c.340A>T, NM_001033551.2:c.340A>T, NM_001350332.2:c.490A>T, NM_001350332.1:c.490A>T, NM_001082968.2:c.490A>T, NM_001082968.1:c.490A>T, NM_001350333.2:c.490A>T, NM_001350333.1:c.490A>T, NM_001288786.2:c.490A>T, NM_001288786.1:c.490A>T, XM_011523662.2:c.340A>T, XM_011523662.1:c.340A>T, XM_024450589.2:c.490A>T, XM_024450589.1:c.490A>T, XM_047435385.1:c.490A>T, XM_047435386.1:c.340A>T, XM_047435389.1:c.340A>T, NP_001028723.1:p.Thr114Ser, NP_001337261.1:p.Thr164Ser, NP_001076437.1:p.Thr164Ser, NP_001337262.1:p.Thr164Ser, NP_001275715.1:p.Thr164Ser, XP_011521964.1:p.Thr114Ser, XP_024306357.1:p.Thr164Ser, XP_047291341.1:p.Thr164Ser, XP_047291342.1:p.Thr114Ser, XP_047291345.1:p.Thr114Ser

Select item 14895961782.

rs1489596178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:17848853 (GRCh38)
17:17752167 (GRCh37)
Canonical SPDI:: NC_000017.11:17848852:C:A
Gene:: TOM1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17848853C>A, NC_000017.10:g.17752167C>A, NG_053113.1:g.128618G>T, NM_001033551.3:c.1195G>T, NM_001033551.2:c.1195G>T, NM_001350332.2:c.1432G>T, NM_001350332.1:c.1432G>T, NM_001082968.2:c.1345G>T, NM_001082968.1:c.1345G>T, NM_001350333.2:c.1285G>T, NM_001350333.1:c.1285G>T, NM_001288786.2:c.1273G>T, NM_001288786.1:c.1273G>T, NM_001288787.2:c.1210G>T, NM_001288787.1:c.1210G>T, NM_001350331.2:c.1150G>T, NM_001350331.1:c.1150G>T, NM_001288788.2:c.991G>T, NM_001288788.1:c.991G>T, NM_001288789.2:c.988G>T, NM_001288789.1:c.988G>T, NM_144678.3:c.1210G>T, XM_005256462.2:c.1297G>T, XM_005256462.1:c.1297G>T, XM_011523662.2:c.1282G>T, XM_011523662.1:c.1282G>T, XM_005256466.2:c.1138G>T, XM_005256466.1:c.1138G>T, XM_024450589.2:c.1126G>T, XM_024450589.1:c.1126G>T, NM_144678.2:c.1249G>T, XM_047435385.1:c.1186G>T, XM_047435386.1:c.1135G>T, XM_047435388.1:c.1051G>T, XM_047435389.1:c.1036G>T, NM_144678.1:c.544G>T, NP_001028723.1:p.Asp399Tyr, NP_001337261.1:p.Asp478Tyr, NP_001076437.1:p.Asp449Tyr, NP_001337262.1:p.Asp429Tyr, NP_001275715.1:p.Asp425Tyr, NP_001275716.1:p.Asp404Tyr, NP_001337260.1:p.Asp384Tyr, NP_001275717.1:p.Asp331Tyr, NP_001275718.1:p.Asp330Tyr, XP_005256519.1:p.Asp433Tyr, XP_011521964.1:p.Asp428Tyr, XP_005256523.1:p.Asp380Tyr, XP_024306357.1:p.Asp376Tyr, XP_047291341.1:p.Asp396Tyr, XP_047291342.1:p.Asp379Tyr, XP_047291344.1:p.Asp351Tyr, XP_047291345.1:p.Asp346Tyr

Select item 14894259993.

rs1489425999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17862733 (GRCh38)
17:17766047 (GRCh37)
Canonical SPDI:: NC_000017.11:17862732:C:T
Gene:: TOM1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17862733C>T, NC_000017.10:g.17766047C>T, NG_053113.1:g.114738G>A, NM_001033551.3:c.1050G>A, NM_001033551.2:c.1050G>A, NM_001350332.2:c.1200G>A, NM_001350332.1:c.1200G>A, NM_001082968.2:c.1200G>A, NM_001082968.1:c.1200G>A, NM_001350333.2:c.1200G>A, NM_001350333.1:c.1200G>A, NM_001288786.2:c.1041G>A, NM_001288786.1:c.1041G>A, NM_001288787.2:c.1065G>A, NM_001288787.1:c.1065G>A, NM_001350331.2:c.1065G>A, NM_001350331.1:c.1065G>A, NM_001288788.2:c.906G>A, NM_001288788.1:c.906G>A, NM_001288789.2:c.756G>A, NM_001288789.1:c.756G>A, NM_144678.3:c.1065G>A, XM_005256462.2:c.1065G>A, XM_005256462.1:c.1065G>A, XM_011523662.2:c.1050G>A, XM_011523662.1:c.1050G>A, XM_005256466.2:c.906G>A, XM_005256466.1:c.906G>A, XM_024450589.2:c.1041G>A, XM_024450589.1:c.1041G>A, NM_144678.2:c.1104G>A, XM_047435385.1:c.1041G>A, XM_047435386.1:c.1050G>A, XM_047435388.1:c.906G>A, XM_047435389.1:c.891G>A, NM_144678.1:c.399G>A

Select item 14886539514.

rs1488653951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17884666 (GRCh38)
17:17787980 (GRCh37)
Canonical SPDI:: NC_000017.11:17884665:C:T
Gene:: TOM1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17884666C>T, NC_000017.10:g.17787980C>T, NG_053113.1:g.92805G>A, NM_001033551.3:c.319G>A, NM_001033551.2:c.319G>A, NM_001350332.2:c.469G>A, NM_001350332.1:c.469G>A, NM_001082968.2:c.469G>A, NM_001082968.1:c.469G>A, NM_001350333.2:c.469G>A, NM_001350333.1:c.469G>A, NM_001288786.2:c.469G>A, NM_001288786.1:c.469G>A, XM_011523662.2:c.319G>A, XM_011523662.1:c.319G>A, XM_024450589.2:c.469G>A, XM_024450589.1:c.469G>A, XM_047435385.1:c.469G>A, XM_047435386.1:c.319G>A, XM_047435389.1:c.319G>A, NP_001028723.1:p.Asp107Asn, NP_001337261.1:p.Asp157Asn, NP_001076437.1:p.Asp157Asn, NP_001337262.1:p.Asp157Asn, NP_001275715.1:p.Asp157Asn, XP_011521964.1:p.Asp107Asn, XP_024306357.1:p.Asp157Asn, XP_047291341.1:p.Asp157Asn, XP_047291342.1:p.Asp107Asn, XP_047291345.1:p.Asp107Asn

Select item 14864814075.

rs1486481407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17857775 (GRCh38)
17:17761089 (GRCh37)
Canonical SPDI:: NC_000017.11:17857774:T:C
Gene:: TOM1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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_000017.11:g.17857775T>C, NC_000017.10:g.17761089T>C, NG_053113.1:g.119696A>G, NM_001350332.2:c.1359A>G, NM_001350332.1:c.1359A>G, NM_001288786.2:c.1200A>G, NM_001288786.1:c.1200A>G, NM_001288789.2:c.915A>G, NM_001288789.1:c.915A>G, XM_005256462.2:c.1224A>G, XM_005256462.1:c.1224A>G, XM_011523662.2:c.1209A>G, XM_011523662.1:c.1209A>G, XM_005256466.2:c.1065A>G, XM_005256466.1:c.1065A>G

Select item 14862068736.

rs1486206873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17862743 (GRCh38)
17:17766057 (GRCh37)
Canonical SPDI:: NC_000017.11:17862742:T:C
Gene:: TOM1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17862743T>C, NC_000017.10:g.17766057T>C, NG_053113.1:g.114728A>G, NM_001033551.3:c.1040A>G, NM_001033551.2:c.1040A>G, NM_001350332.2:c.1190A>G, NM_001350332.1:c.1190A>G, NM_001082968.2:c.1190A>G, NM_001082968.1:c.1190A>G, NM_001350333.2:c.1190A>G, NM_001350333.1:c.1190A>G, NM_001288786.2:c.1031A>G, NM_001288786.1:c.1031A>G, NM_001288787.2:c.1055A>G, NM_001288787.1:c.1055A>G, NM_001350331.2:c.1055A>G, NM_001350331.1:c.1055A>G, NM_001288788.2:c.896A>G, NM_001288788.1:c.896A>G, NM_001288789.2:c.746A>G, NM_001288789.1:c.746A>G, NM_144678.3:c.1055A>G, XM_005256462.2:c.1055A>G, XM_005256462.1:c.1055A>G, XM_011523662.2:c.1040A>G, XM_011523662.1:c.1040A>G, XM_005256466.2:c.896A>G, XM_005256466.1:c.896A>G, XM_024450589.2:c.1031A>G, XM_024450589.1:c.1031A>G, NM_144678.2:c.1094A>G, XM_047435385.1:c.1031A>G, XM_047435386.1:c.1040A>G, XM_047435388.1:c.896A>G, XM_047435389.1:c.881A>G, NM_144678.1:c.389A>G, NP_001028723.1:p.Glu347Gly, NP_001337261.1:p.Glu397Gly, NP_001076437.1:p.Glu397Gly, NP_001337262.1:p.Glu397Gly, NP_001275715.1:p.Glu344Gly, NP_001275716.1:p.Glu352Gly, NP_001337260.1:p.Glu352Gly, NP_001275717.1:p.Glu299Gly, NP_001275718.1:p.Glu249Gly, XP_005256519.1:p.Glu352Gly, XP_011521964.1:p.Glu347Gly, XP_005256523.1:p.Glu299Gly, XP_024306357.1:p.Glu344Gly, XP_047291341.1:p.Glu344Gly, XP_047291342.1:p.Glu347Gly, XP_047291344.1:p.Glu299Gly, XP_047291345.1:p.Glu294Gly

Select item 14806337287.

rs1480633728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:17866382 (GRCh38)
17:17769697 (GRCh37)
Canonical SPDI:: NC_000017.11:17866382:GG:GGG
Gene:: TOM1L2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17866384dup, NC_000017.10:g.17769698dup, NG_053113.1:g.111088dup, NM_001033551.3:c.847dup, NM_001033551.2:c.847dup, NM_001350332.2:c.997dup, NM_001350332.1:c.997dup, NM_001082968.2:c.997dup, NM_001082968.1:c.997dup, NM_001350333.2:c.997dup, NM_001350333.1:c.997dup, NM_001288786.2:c.838dup, NM_001288786.1:c.838dup, NM_001288787.2:c.862dup, NM_001288787.1:c.862dup, NM_001350331.2:c.862dup, NM_001350331.1:c.862dup, NM_001288788.2:c.703dup, NM_001288788.1:c.703dup, NM_001288789.2:c.553dup, NM_001288789.1:c.553dup, NM_144678.3:c.862dup, XM_005256462.2:c.862dup, XM_005256462.1:c.862dup, XM_011523662.2:c.847dup, XM_011523662.1:c.847dup, XM_005256466.2:c.703dup, XM_005256466.1:c.703dup, XM_024450589.2:c.838dup, XM_024450589.1:c.838dup, NM_144678.2:c.901dup, XM_047435385.1:c.838dup, XM_047435386.1:c.847dup, XM_047435388.1:c.703dup, XM_047435389.1:c.688dup, NM_144678.1:c.196dup, NP_001028723.1:p.Leu283fs, NP_001337261.1:p.Leu333fs, NP_001076437.1:p.Leu333fs, NP_001337262.1:p.Leu333fs, NP_001275715.1:p.Leu280fs, NP_001275716.1:p.Leu288fs, NP_001337260.1:p.Leu288fs, NP_001275717.1:p.Leu235fs, NP_001275718.1:p.Leu185fs, XP_005256519.1:p.Leu288fs, XP_011521964.1:p.Leu283fs, XP_005256523.1:p.Leu235fs, XP_024306357.1:p.Leu280fs, XP_047291341.1:p.Leu280fs, XP_047291342.1:p.Leu283fs, XP_047291344.1:p.Leu235fs, XP_047291345.1:p.Leu230fs

Select item 14806102188.

rs1480610218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:17869404 (GRCh38)
17:17772718 (GRCh37)
Canonical SPDI:: NC_000017.11:17869403:C:A
Gene:: TOM1L2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000017.11:g.17869404C>A, NC_000017.10:g.17772718C>A, NG_053113.1:g.108067G>T, NM_001033551.3:c.697G>T, NM_001033551.2:c.697G>T, NM_001350332.2:c.847G>T, NM_001350332.1:c.847G>T, NM_001082968.2:c.847G>T, NM_001082968.1:c.847G>T, NM_001350333.2:c.847G>T, NM_001350333.1:c.847G>T, NM_001288786.2:c.688G>T, NM_001288786.1:c.688G>T, NM_001288787.2:c.712G>T, NM_001288787.1:c.712G>T, NM_001350331.2:c.712G>T, NM_001350331.1:c.712G>T, NM_001288788.2:c.553G>T, NM_001288788.1:c.553G>T, NM_001288789.2:c.403G>T, NM_001288789.1:c.403G>T, NM_144678.3:c.712G>T, XM_005256462.2:c.712G>T, XM_005256462.1:c.712G>T, XM_011523662.2:c.697G>T, XM_011523662.1:c.697G>T, XM_005256466.2:c.553G>T, XM_005256466.1:c.553G>T, XM_024450589.2:c.688G>T, XM_024450589.1:c.688G>T, NM_144678.2:c.751G>T, XM_047435385.1:c.688G>T, XM_047435386.1:c.697G>T, XM_047435388.1:c.553G>T, XM_047435389.1:c.538G>T, NM_144678.1:c.46G>T, NP_001028723.1:p.Glu233Ter, NP_001337261.1:p.Glu283Ter, NP_001076437.1:p.Glu283Ter, NP_001337262.1:p.Glu283Ter, NP_001275715.1:p.Glu230Ter, NP_001275716.1:p.Glu238Ter, NP_001337260.1:p.Glu238Ter, NP_001275717.1:p.Glu185Ter, NP_001275718.1:p.Glu135Ter, XP_005256519.1:p.Glu238Ter, XP_011521964.1:p.Glu233Ter, XP_005256523.1:p.Glu185Ter, XP_024306357.1:p.Glu230Ter, XP_047291341.1:p.Glu230Ter, XP_047291342.1:p.Glu233Ter, XP_047291344.1:p.Glu185Ter, XP_047291345.1:p.Glu180Ter

Select item 14802819359.

rs1480281935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17879709 (GRCh38)
17:17783023 (GRCh37)
Canonical SPDI:: NC_000017.11:17879708:C:T
Gene:: TOM1L2 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17879709C>T, NC_000017.10:g.17783023C>T, NG_053113.1:g.97762G>A, NM_001033551.3:c.545G>A, NM_001033551.2:c.545G>A, NM_001350332.2:c.695G>A, NM_001350332.1:c.695G>A, NM_001082968.2:c.695G>A, NM_001082968.1:c.695G>A, NM_001350333.2:c.695G>A, NM_001350333.1:c.695G>A, NM_001288786.2:c.536G>A, NM_001288786.1:c.536G>A, NM_001288787.2:c.560G>A, NM_001288787.1:c.560G>A, NM_001350331.2:c.560G>A, NM_001350331.1:c.560G>A, NM_001288788.2:c.401G>A, NM_001288788.1:c.401G>A, NM_001288789.2:c.251G>A, NM_001288789.1:c.251G>A, NM_144678.3:c.560G>A, XM_005256462.2:c.560G>A, XM_005256462.1:c.560G>A, XM_011523662.2:c.545G>A, XM_011523662.1:c.545G>A, XM_005256466.2:c.401G>A, XM_005256466.1:c.401G>A, XM_024450589.2:c.536G>A, XM_024450589.1:c.536G>A, NM_144678.2:c.599G>A, XM_047435385.1:c.536G>A, XM_047435386.1:c.545G>A, XM_047435388.1:c.401G>A, XM_047435389.1:c.386G>A, NP_001028723.1:p.Arg182Gln, NP_001337261.1:p.Arg232Gln, NP_001076437.1:p.Arg232Gln, NP_001337262.1:p.Arg232Gln, NP_001275715.1:p.Arg179Gln, NP_001275716.1:p.Arg187Gln, NP_001337260.1:p.Arg187Gln, NP_001275717.1:p.Arg134Gln, NP_001275718.1:p.Arg84Gln, XP_005256519.1:p.Arg187Gln, XP_011521964.1:p.Arg182Gln, XP_005256523.1:p.Arg134Gln, XP_024306357.1:p.Arg179Gln, XP_047291341.1:p.Arg179Gln, XP_047291342.1:p.Arg182Gln, XP_047291344.1:p.Arg134Gln, XP_047291345.1:p.Arg129Gln

Select item 147996102910.

rs1479961029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:17898611 (GRCh38)
17:17801925 (GRCh37)
Canonical SPDI:: NC_000017.11:17898610:C:A
Gene:: TOM1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.17898611C>A, NC_000017.10:g.17801925C>A, NG_053113.1:g.78860G>T, NM_001033551.3:c.201G>T, NM_001033551.2:c.201G>T, NM_001350332.2:c.201G>T, NM_001350332.1:c.201G>T, NM_001082968.2:c.201G>T, NM_001082968.1:c.201G>T, NM_001350333.2:c.201G>T, NM_001350333.1:c.201G>T, NM_001288786.2:c.201G>T, NM_001288786.1:c.201G>T, NM_001288787.2:c.201G>T, NM_001288787.1:c.201G>T, NM_001350331.2:c.201G>T, NM_001350331.1:c.201G>T, NM_001288788.2:c.201G>T, NM_001288788.1:c.201G>T, NM_001288789.2:c.201G>T, NM_001288789.1:c.201G>T, NM_144678.3:c.201G>T, XM_005256462.2:c.201G>T, XM_005256462.1:c.201G>T, XM_011523662.2:c.201G>T, XM_011523662.1:c.201G>T, XM_005256466.2:c.201G>T, XM_005256466.1:c.201G>T, XM_024450589.2:c.201G>T, XM_024450589.1:c.201G>T, NM_144678.2:c.237G>T, XM_047435385.1:c.201G>T, XM_047435386.1:c.201G>T, XM_047435388.1:c.201G>T, XM_047435389.1:c.201G>T

Select item 147733459811.

rs1477334598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17862776 (GRCh38)
17:17766090 (GRCh37)
Canonical SPDI:: NC_000017.11:17862775:A:G
Gene:: TOM1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17862776A>G, NC_000017.10:g.17766090A>G, NG_053113.1:g.114695T>C, NM_001033551.3:c.1007T>C, NM_001033551.2:c.1007T>C, NM_001350332.2:c.1157T>C, NM_001350332.1:c.1157T>C, NM_001082968.2:c.1157T>C, NM_001082968.1:c.1157T>C, NM_001350333.2:c.1157T>C, NM_001350333.1:c.1157T>C, NM_001288786.2:c.998T>C, NM_001288786.1:c.998T>C, NM_001288787.2:c.1022T>C, NM_001288787.1:c.1022T>C, NM_001350331.2:c.1022T>C, NM_001350331.1:c.1022T>C, NM_001288788.2:c.863T>C, NM_001288788.1:c.863T>C, NM_001288789.2:c.713T>C, NM_001288789.1:c.713T>C, NM_144678.3:c.1022T>C, XM_005256462.2:c.1022T>C, XM_005256462.1:c.1022T>C, XM_011523662.2:c.1007T>C, XM_011523662.1:c.1007T>C, XM_005256466.2:c.863T>C, XM_005256466.1:c.863T>C, XM_024450589.2:c.998T>C, XM_024450589.1:c.998T>C, NM_144678.2:c.1061T>C, XM_047435385.1:c.998T>C, XM_047435386.1:c.1007T>C, XM_047435388.1:c.863T>C, XM_047435389.1:c.848T>C, NM_144678.1:c.356T>C, NP_001028723.1:p.Met336Thr, NP_001337261.1:p.Met386Thr, NP_001076437.1:p.Met386Thr, NP_001337262.1:p.Met386Thr, NP_001275715.1:p.Met333Thr, NP_001275716.1:p.Met341Thr, NP_001337260.1:p.Met341Thr, NP_001275717.1:p.Met288Thr, NP_001275718.1:p.Met238Thr, XP_005256519.1:p.Met341Thr, XP_011521964.1:p.Met336Thr, XP_005256523.1:p.Met288Thr, XP_024306357.1:p.Met333Thr, XP_047291341.1:p.Met333Thr, XP_047291342.1:p.Met336Thr, XP_047291344.1:p.Met288Thr, XP_047291345.1:p.Met283Thr

Select item 147655783812.

rs1476557838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17857850 (GRCh38)
17:17761164 (GRCh37)
Canonical SPDI:: NC_000017.11:17857849:A:G
Gene:: TOM1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17857850A>G, NC_000017.10:g.17761164A>G, NG_053113.1:g.119621T>C, NM_001350332.2:c.1284T>C, NM_001350332.1:c.1284T>C, NM_001288786.2:c.1125T>C, NM_001288786.1:c.1125T>C, NM_001288789.2:c.840T>C, NM_001288789.1:c.840T>C, XM_005256462.2:c.1149T>C, XM_005256462.1:c.1149T>C, XM_011523662.2:c.1134T>C, XM_011523662.1:c.1134T>C, XM_005256466.2:c.990T>C, XM_005256466.1:c.990T>C

Select item 147117289713.

rs1471172897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:17866370 (GRCh38)
17:17769684 (GRCh37)
Canonical SPDI:: NC_000017.11:17866369:G:T
Gene:: TOM1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17866370G>T, NC_000017.10:g.17769684G>T, NG_053113.1:g.111101C>A, NM_001033551.3:c.860C>A, NM_001033551.2:c.860C>A, NM_001350332.2:c.1010C>A, NM_001350332.1:c.1010C>A, NM_001082968.2:c.1010C>A, NM_001082968.1:c.1010C>A, NM_001350333.2:c.1010C>A, NM_001350333.1:c.1010C>A, NM_001288786.2:c.851C>A, NM_001288786.1:c.851C>A, NM_001288787.2:c.875C>A, NM_001288787.1:c.875C>A, NM_001350331.2:c.875C>A, NM_001350331.1:c.875C>A, NM_001288788.2:c.716C>A, NM_001288788.1:c.716C>A, NM_001288789.2:c.566C>A, NM_001288789.1:c.566C>A, NM_144678.3:c.875C>A, XM_005256462.2:c.875C>A, XM_005256462.1:c.875C>A, XM_011523662.2:c.860C>A, XM_011523662.1:c.860C>A, XM_005256466.2:c.716C>A, XM_005256466.1:c.716C>A, XM_024450589.2:c.851C>A, XM_024450589.1:c.851C>A, NM_144678.2:c.914C>A, XM_047435385.1:c.851C>A, XM_047435386.1:c.860C>A, XM_047435388.1:c.716C>A, XM_047435389.1:c.701C>A, NM_144678.1:c.209C>A, NP_001028723.1:p.Ser287Tyr, NP_001337261.1:p.Ser337Tyr, NP_001076437.1:p.Ser337Tyr, NP_001337262.1:p.Ser337Tyr, NP_001275715.1:p.Ser284Tyr, NP_001275716.1:p.Ser292Tyr, NP_001337260.1:p.Ser292Tyr, NP_001275717.1:p.Ser239Tyr, NP_001275718.1:p.Ser189Tyr, XP_005256519.1:p.Ser292Tyr, XP_011521964.1:p.Ser287Tyr, XP_005256523.1:p.Ser239Tyr, XP_024306357.1:p.Ser284Tyr, XP_047291341.1:p.Ser284Tyr, XP_047291342.1:p.Ser287Tyr, XP_047291344.1:p.Ser239Tyr, XP_047291345.1:p.Ser234Tyr

Select item 146844566814.

rs1468445668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17879656 (GRCh38)
17:17782970 (GRCh37)
Canonical SPDI:: NC_000017.11:17879655:C:T
Gene:: TOM1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17879656C>T, NC_000017.10:g.17782970C>T, NG_053113.1:g.97815G>A, NM_001033551.3:c.598G>A, NM_001033551.2:c.598G>A, NM_001350332.2:c.748G>A, NM_001350332.1:c.748G>A, NM_001082968.2:c.748G>A, NM_001082968.1:c.748G>A, NM_001350333.2:c.748G>A, NM_001350333.1:c.748G>A, NM_001288786.2:c.589G>A, NM_001288786.1:c.589G>A, NM_001288787.2:c.613G>A, NM_001288787.1:c.613G>A, NM_001350331.2:c.613G>A, NM_001350331.1:c.613G>A, NM_001288788.2:c.454G>A, NM_001288788.1:c.454G>A, NM_001288789.2:c.304G>A, NM_001288789.1:c.304G>A, NM_144678.3:c.613G>A, XM_005256462.2:c.613G>A, XM_005256462.1:c.613G>A, XM_011523662.2:c.598G>A, XM_011523662.1:c.598G>A, XM_005256466.2:c.454G>A, XM_005256466.1:c.454G>A, XM_024450589.2:c.589G>A, XM_024450589.1:c.589G>A, NM_144678.2:c.652G>A, XM_047435385.1:c.589G>A, XM_047435386.1:c.598G>A, XM_047435388.1:c.454G>A, XM_047435389.1:c.439G>A, NP_001028723.1:p.Glu200Lys, NP_001337261.1:p.Glu250Lys, NP_001076437.1:p.Glu250Lys, NP_001337262.1:p.Glu250Lys, NP_001275715.1:p.Glu197Lys, NP_001275716.1:p.Glu205Lys, NP_001337260.1:p.Glu205Lys, NP_001275717.1:p.Glu152Lys, NP_001275718.1:p.Glu102Lys, XP_005256519.1:p.Glu205Lys, XP_011521964.1:p.Glu200Lys, XP_005256523.1:p.Glu152Lys, XP_024306357.1:p.Glu197Lys, XP_047291341.1:p.Glu197Lys, XP_047291342.1:p.Glu200Lys, XP_047291344.1:p.Glu152Lys, XP_047291345.1:p.Glu147Lys

Select item 146768995915.

rs1467689959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:17847774 (GRCh38)
17:17751088 (GRCh37)
Canonical SPDI:: NC_000017.11:17847773:T:C,NC_000017.11:17847773:T:G
Gene:: TOM1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17847774T>C, NC_000017.11:g.17847774T>G, NC_000017.10:g.17751088T>C, NC_000017.10:g.17751088T>G, NG_053113.1:g.129697A>G, NG_053113.1:g.129697A>C, NM_001033551.3:c.1235A>G, NM_001033551.3:c.1235A>C, NM_001033551.2:c.1235A>G, NM_001033551.2:c.1235A>C, NM_001350332.2:c.1472A>G, NM_001350332.2:c.1472A>C, NM_001350332.1:c.1472A>G, NM_001350332.1:c.1472A>C, NM_001082968.2:c.1385A>G, NM_001082968.2:c.1385A>C, NM_001082968.1:c.1385A>G, NM_001082968.1:c.1385A>C, NM_001350333.2:c.1325A>G, NM_001350333.2:c.1325A>C, NM_001350333.1:c.1325A>G, NM_001350333.1:c.1325A>C, NM_001288786.2:c.1313A>G, NM_001288786.2:c.1313A>C, NM_001288786.1:c.1313A>G, NM_001288786.1:c.1313A>C, NM_001288787.2:c.1250A>G, NM_001288787.2:c.1250A>C, NM_001288787.1:c.1250A>G, NM_001288787.1:c.1250A>C, NM_001350331.2:c.1190A>G, NM_001350331.2:c.1190A>C, NM_001350331.1:c.1190A>G, NM_001350331.1:c.1190A>C, NM_001288788.2:c.1031A>G, NM_001288788.2:c.1031A>C, NM_001288788.1:c.1031A>G, NM_001288788.1:c.1031A>C, NM_001288789.2:c.1028A>G, NM_001288789.2:c.1028A>C, NM_001288789.1:c.1028A>G, NM_001288789.1:c.1028A>C, NM_144678.3:c.1250A>G, NM_144678.3:c.1250A>C, XM_005256462.2:c.1337A>G, XM_005256462.2:c.1337A>C, XM_005256462.1:c.1337A>G, XM_005256462.1:c.1337A>C, XM_011523662.2:c.1322A>G, XM_011523662.2:c.1322A>C, XM_011523662.1:c.1322A>G, XM_011523662.1:c.1322A>C, XM_005256466.2:c.1178A>G, XM_005256466.2:c.1178A>C, XM_005256466.1:c.1178A>G, XM_005256466.1:c.1178A>C, XM_024450589.2:c.1166A>G, XM_024450589.2:c.1166A>C, XM_024450589.1:c.1166A>G, XM_024450589.1:c.1166A>C, NM_144678.2:c.1289A>G, NM_144678.2:c.1289A>C, XM_047435385.1:c.1226A>G, XM_047435385.1:c.1226A>C, XM_047435386.1:c.1175A>G, XM_047435386.1:c.1175A>C, XM_047435388.1:c.1091A>G, XM_047435388.1:c.1091A>C, XM_047435389.1:c.1076A>G, XM_047435389.1:c.1076A>C, NM_144678.1:c.584A>G, NM_144678.1:c.584A>C, NP_001028723.1:p.Lys412Arg, NP_001028723.1:p.Lys412Thr, NP_001337261.1:p.Lys491Arg, NP_001337261.1:p.Lys491Thr, NP_001076437.1:p.Lys462Arg, NP_001076437.1:p.Lys462Thr, NP_001337262.1:p.Lys442Arg, NP_001337262.1:p.Lys442Thr, NP_001275715.1:p.Lys438Arg, NP_001275715.1:p.Lys438Thr, NP_001275716.1:p.Lys417Arg, NP_001275716.1:p.Lys417Thr, NP_001337260.1:p.Lys397Arg, NP_001337260.1:p.Lys397Thr, NP_001275717.1:p.Lys344Arg, NP_001275717.1:p.Lys344Thr, NP_001275718.1:p.Lys343Arg, NP_001275718.1:p.Lys343Thr, XP_005256519.1:p.Lys446Arg, XP_005256519.1:p.Lys446Thr, XP_011521964.1:p.Lys441Arg, XP_011521964.1:p.Lys441Thr, XP_005256523.1:p.Lys393Arg, XP_005256523.1:p.Lys393Thr, XP_024306357.1:p.Lys389Arg, XP_024306357.1:p.Lys389Thr, XP_047291341.1:p.Lys409Arg, XP_047291341.1:p.Lys409Thr, XP_047291342.1:p.Lys392Arg, XP_047291342.1:p.Lys392Thr, XP_047291344.1:p.Lys364Arg, XP_047291344.1:p.Lys364Thr, XP_047291345.1:p.Lys359Arg, XP_047291345.1:p.Lys359Thr

Select item 146471294616.

rs1464712946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:17884747 (GRCh38)
17:17788061 (GRCh37)
Canonical SPDI:: NC_000017.11:17884746:T:G
Gene:: TOM1L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17884747T>G, NC_000017.10:g.17788061T>G, NG_053113.1:g.92724A>C, NM_001033551.3:c.238A>C, NM_001033551.2:c.238A>C, NM_001350332.2:c.388A>C, NM_001350332.1:c.388A>C, NM_001082968.2:c.388A>C, NM_001082968.1:c.388A>C, NM_001350333.2:c.388A>C, NM_001350333.1:c.388A>C, NM_001288786.2:c.388A>C, NM_001288786.1:c.388A>C, XM_011523662.2:c.238A>C, XM_011523662.1:c.238A>C, XM_024450589.2:c.388A>C, XM_024450589.1:c.388A>C, XM_047435385.1:c.388A>C, XM_047435386.1:c.238A>C, XM_047435389.1:c.238A>C, NP_001028723.1:p.Ser80Arg, NP_001337261.1:p.Ser130Arg, NP_001076437.1:p.Ser130Arg, NP_001337262.1:p.Ser130Arg, NP_001275715.1:p.Ser130Arg, XP_011521964.1:p.Ser80Arg, XP_024306357.1:p.Ser130Arg, XP_047291341.1:p.Ser130Arg, XP_047291342.1:p.Ser80Arg, XP_047291345.1:p.Ser80Arg

Select item 146411411417.

rs1464114114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17893689 (GRCh38)
17:17797003 (GRCh37)
Canonical SPDI:: NC_000017.11:17893688:A:G
Gene:: TOM1L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17893689A>G, NC_000017.10:g.17797003A>G, NG_053113.1:g.83782T>C, NM_001350332.2:c.338T>C, NM_001350332.1:c.338T>C, NM_001082968.2:c.338T>C, NM_001082968.1:c.338T>C, NM_001350333.2:c.338T>C, NM_001350333.1:c.338T>C, NM_001288786.2:c.338T>C, NM_001288786.1:c.338T>C, NM_001288787.2:c.338T>C, NM_001288787.1:c.338T>C, NM_001350331.2:c.338T>C, NM_001350331.1:c.338T>C, NM_001288788.2:c.338T>C, NM_001288788.1:c.338T>C, NM_144678.3:c.338T>C, XM_005256462.2:c.338T>C, XM_005256462.1:c.338T>C, XM_005256466.2:c.338T>C, XM_005256466.1:c.338T>C, XM_024450589.2:c.338T>C, XM_024450589.1:c.338T>C, NM_144678.2:c.375T>C, XM_047435385.1:c.338T>C, XM_047435388.1:c.338T>C, NP_001337261.1:p.Val113Ala, NP_001076437.1:p.Val113Ala, NP_001337262.1:p.Val113Ala, NP_001275715.1:p.Val113Ala, NP_001275716.1:p.Val113Ala, NP_001337260.1:p.Val113Ala, NP_001275717.1:p.Val113Ala, XP_005256519.1:p.Val113Ala, XP_005256523.1:p.Val113Ala, XP_024306357.1:p.Val113Ala, XP_047291341.1:p.Val113Ala, XP_047291344.1:p.Val113Ala

Select item 146074582618.

rs1460745826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17857782 (GRCh38)
17:17761096 (GRCh37)
Canonical SPDI:: NC_000017.11:17857781:A:G
Gene:: TOM1L2 (Varview)
Functional Consequence:: intron_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_000017.11:g.17857782A>G, NC_000017.10:g.17761096A>G, NG_053113.1:g.119689T>C, NM_001350332.2:c.1352T>C, NM_001350332.1:c.1352T>C, NM_001288786.2:c.1193T>C, NM_001288786.1:c.1193T>C, NM_001288789.2:c.908T>C, NM_001288789.1:c.908T>C, XM_005256462.2:c.1217T>C, XM_005256462.1:c.1217T>C, XM_011523662.2:c.1202T>C, XM_011523662.1:c.1202T>C, XM_005256466.2:c.1058T>C, XM_005256466.1:c.1058T>C, NP_001337261.1:p.Ile451Thr, NP_001275715.1:p.Ile398Thr, NP_001275718.1:p.Ile303Thr, XP_005256519.1:p.Ile406Thr, XP_011521964.1:p.Ile401Thr, XP_005256523.1:p.Ile353Thr

Select item 145978066519.

rs1459780665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:17972272 (GRCh38)
17:17875586 (GRCh37)
Canonical SPDI:: NC_000017.11:17972271:C:A,NC_000017.11:17972271:C:T
Gene:: DRC3 (Varview), TOM1L2 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17972272C>A, NC_000017.11:g.17972272C>T, NC_000017.10:g.17875586C>A, NC_000017.10:g.17875586C>T, NG_053113.1:g.5199G>T, NG_053113.1:g.5199G>A, NM_001033551.3:c.42G>T, NM_001033551.3:c.42G>A, NM_001033551.2:c.42G>T, NM_001033551.2:c.42G>A, NM_001350332.2:c.42G>T, NM_001350332.2:c.42G>A, NM_001350332.1:c.42G>T, NM_001350332.1:c.42G>A, NM_001082968.2:c.42G>T, NM_001082968.2:c.42G>A, NM_001082968.1:c.42G>T, NM_001082968.1:c.42G>A, NM_001350333.2:c.42G>T, NM_001350333.2:c.42G>A, NM_001350333.1:c.42G>T, NM_001350333.1:c.42G>A, NM_001288786.2:c.42G>T, NM_001288786.2:c.42G>A, NM_001288786.1:c.42G>T, NM_001288786.1:c.42G>A, NM_001288787.2:c.42G>T, NM_001288787.2:c.42G>A, NM_001288787.1:c.42G>T, NM_001288787.1:c.42G>A, NM_001350331.2:c.42G>T, NM_001350331.2:c.42G>A, NM_001350331.1:c.42G>T, NM_001350331.1:c.42G>A, NM_001288788.2:c.42G>T, NM_001288788.2:c.42G>A, NM_001288788.1:c.42G>T, NM_001288788.1:c.42G>A, NM_001288789.2:c.42G>T, NM_001288789.2:c.42G>A, NM_001288789.1:c.42G>T, NM_001288789.1:c.42G>A, NM_144678.3:c.42G>T, NM_144678.3:c.42G>A, XM_005256462.2:c.42G>T, XM_005256462.2:c.42G>A, XM_005256462.1:c.42G>T, XM_005256462.1:c.42G>A, XM_011523662.2:c.42G>T, XM_011523662.2:c.42G>A, XM_011523662.1:c.42G>T, XM_011523662.1:c.42G>A, XM_005256466.2:c.42G>T, XM_005256466.2:c.42G>A, XM_005256466.1:c.42G>T, XM_005256466.1:c.42G>A, XM_024450589.2:c.42G>T, XM_024450589.2:c.42G>A, XM_024450589.1:c.42G>T, XM_024450589.1:c.42G>A, NM_144678.2:c.78G>T, NM_144678.2:c.78G>A, XM_047435385.1:c.42G>T, XM_047435385.1:c.42G>A, XM_047435386.1:c.42G>T, XM_047435386.1:c.42G>A, XM_047435388.1:c.42G>T, XM_047435388.1:c.42G>A, XM_047435389.1:c.42G>T, XM_047435389.1:c.42G>A

Select item 145799994020.

rs1457999940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17972308 (GRCh38)
17:17875622 (GRCh37)
Canonical SPDI:: NC_000017.11:17972307:C:T
Gene:: DRC3 (Varview), TOM1L2 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.17972308C>T, NC_000017.10:g.17875622C>T, NG_053113.1:g.5163G>A, NM_001033551.3:c.6G>A, NM_001033551.2:c.6G>A, NM_001350332.2:c.6G>A, NM_001350332.1:c.6G>A, NM_001082968.2:c.6G>A, NM_001082968.1:c.6G>A, NM_001350333.2:c.6G>A, NM_001350333.1:c.6G>A, NM_001288786.2:c.6G>A, NM_001288786.1:c.6G>A, NM_001288787.2:c.6G>A, NM_001288787.1:c.6G>A, NM_001350331.2:c.6G>A, NM_001350331.1:c.6G>A, NM_001288788.2:c.6G>A, NM_001288788.1:c.6G>A, NM_001288789.2:c.6G>A, NM_001288789.1:c.6G>A, NM_144678.3:c.6G>A, XM_005256462.2:c.6G>A, XM_005256462.1:c.6G>A, XM_011523662.2:c.6G>A, XM_011523662.1:c.6G>A, XM_005256466.2:c.6G>A, XM_005256466.1:c.6G>A, XM_024450589.2:c.6G>A, XM_024450589.1:c.6G>A, NM_144678.2:c.42G>A, XM_047435385.1:c.6G>A, XM_047435386.1:c.6G>A, XM_047435388.1:c.6G>A, XM_047435389.1:c.6G>A

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