SNP Links for Protein (Select 564473366) - SNP

Links from Protein

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Select item 14908772901.

rs1490877290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20682671 (GRCh38)
1:21009164 (GRCh37)
Canonical SPDI:: NC_000001.11:20682670:C:T
Gene:: KIF17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20682671C>T, NC_000001.10:g.21009164C>T, NM_020816.4:c.2445G>A, NM_020816.3:c.2445G>A, NM_020816.2:c.2445G>A, NM_001122819.3:c.2445G>A, NM_001122819.2:c.2445G>A, NM_001122819.1:c.2445G>A, NM_001287212.2:c.2145G>A, NM_001287212.1:c.2145G>A, XR_007062426.1:n.2746G>A, XM_047426158.1:c.2145G>A, XM_047426151.1:c.2445G>A, XM_047426146.1:c.2445G>A, XM_047426147.1:c.2445G>A, XM_047426148.1:c.2445G>A, XM_047426149.1:c.2445G>A, XM_047426150.1:c.2445G>A, XM_047426156.1:c.2445G>A, XM_047426157.1:c.2445G>A, XM_047426152.1:c.2445G>A, XM_047426153.1:c.2445G>A, XM_047426154.1:c.2445G>A, XM_047426155.1:c.2445G>A, XM_047426160.1:c.1023G>A

Select item 14898980492.

rs1489898049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20684949 (GRCh38)
1:21011442 (GRCh37)
Canonical SPDI:: NC_000001.11:20684948:A:G
Gene:: KIF17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20684949A>G, NC_000001.10:g.21011442A>G, NM_020816.4:c.2091T>C, NM_020816.3:c.2091T>C, NM_020816.2:c.2091T>C, NM_001122819.3:c.2091T>C, NM_001122819.2:c.2091T>C, NM_001122819.1:c.2091T>C, NM_001287212.2:c.1791T>C, NM_001287212.1:c.1791T>C, XR_007062426.1:n.2392T>C, XM_047426158.1:c.1791T>C, XM_047426151.1:c.2091T>C, XM_047426146.1:c.2091T>C, XM_047426147.1:c.2091T>C, XM_047426148.1:c.2091T>C, XM_047426149.1:c.2091T>C, XM_047426150.1:c.2091T>C, XM_047426156.1:c.2091T>C, XM_047426157.1:c.2091T>C, XM_047426152.1:c.2091T>C, XM_047426153.1:c.2091T>C, XM_047426154.1:c.2091T>C, XM_047426155.1:c.2091T>C, XM_047426160.1:c.669T>C

Select item 14854281843.

rs1485428184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:20687591 (GRCh38)
1:21014084 (GRCh37)
Canonical SPDI:: NC_000001.11:20687590:C:G
Gene:: KIF17 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000001.11:g.20687591C>G, NC_000001.10:g.21014084C>G, NM_020816.4:c.1735G>C, NM_020816.3:c.1735G>C, NM_020816.2:c.1735G>C, NM_001122819.3:c.1735G>C, NM_001122819.2:c.1735G>C, NM_001122819.1:c.1735G>C, NM_001287212.2:c.1435G>C, NM_001287212.1:c.1435G>C, XR_007062426.1:n.2036G>C, XM_047426158.1:c.1435G>C, XM_047426151.1:c.1735G>C, XM_047426146.1:c.1735G>C, XM_047426147.1:c.1735G>C, XM_047426148.1:c.1735G>C, XM_047426149.1:c.1735G>C, XM_047426150.1:c.1735G>C, XM_047426156.1:c.1735G>C, XM_047426157.1:c.1735G>C, XM_047426152.1:c.1735G>C, XM_047426153.1:c.1735G>C, XM_047426154.1:c.1735G>C, XM_047426155.1:c.1735G>C, XM_047426159.1:c.1735G>C, XM_047426160.1:c.313G>C, NP_065867.2:p.Glu579Gln, NP_001116291.1:p.Glu579Gln, NP_001274141.1:p.Glu479Gln, XP_047282114.1:p.Glu479Gln, XP_047282107.1:p.Glu579Gln, XP_047282102.1:p.Glu579Gln, XP_047282103.1:p.Glu579Gln, XP_047282104.1:p.Glu579Gln, XP_047282105.1:p.Glu579Gln, XP_047282106.1:p.Glu579Gln, XP_047282112.1:p.Glu579Gln, XP_047282113.1:p.Glu579Gln, XP_047282108.1:p.Glu579Gln, XP_047282109.1:p.Glu579Gln, XP_047282110.1:p.Glu579Gln, XP_047282111.1:p.Glu579Gln, XP_047282115.1:p.Glu579Gln, XP_047282116.1:p.Glu105Gln

Select item 14846555264.

rs1484655526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:20704775 (GRCh38)
1:21031268 (GRCh37)
Canonical SPDI:: NC_000001.11:20704774:C:G
Gene:: KIF17 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20704775C>G, NC_000001.10:g.21031268C>G, NM_020816.4:c.795G>C, NM_020816.3:c.795G>C, NM_020816.2:c.795G>C, NM_001122819.3:c.795G>C, NM_001122819.2:c.795G>C, NM_001122819.1:c.795G>C, NM_001287212.2:c.495G>C, NM_001287212.1:c.495G>C, XR_007062426.1:n.1096G>C, XM_047426158.1:c.495G>C, XM_047426151.1:c.795G>C, XM_047426146.1:c.795G>C, XM_047426147.1:c.795G>C, XM_047426148.1:c.795G>C, XM_047426149.1:c.795G>C, XM_047426150.1:c.795G>C, XM_047426156.1:c.795G>C, XM_047426157.1:c.795G>C, XM_047426152.1:c.795G>C, XM_047426153.1:c.795G>C, XM_047426154.1:c.795G>C, XM_047426155.1:c.795G>C, XM_047426159.1:c.795G>C, XM_047426161.1:c.795G>C

Select item 14843305945.

rs1484330594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20709658 (GRCh38)
1:21036151 (GRCh37)
Canonical SPDI:: NC_000001.11:20709657:G:A
Gene:: KIF17 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20709658G>A, NC_000001.10:g.21036151G>A, NM_020816.4:c.651C>T, NM_020816.3:c.651C>T, NM_020816.2:c.651C>T, NM_001122819.3:c.651C>T, NM_001122819.2:c.651C>T, NM_001122819.1:c.651C>T, NM_001287212.2:c.351C>T, NM_001287212.1:c.351C>T, XR_007062426.1:n.952C>T, XM_047426158.1:c.351C>T, XM_047426151.1:c.651C>T, XM_047426146.1:c.651C>T, XM_047426147.1:c.651C>T, XM_047426148.1:c.651C>T, XM_047426149.1:c.651C>T, XM_047426150.1:c.651C>T, XM_047426156.1:c.651C>T, XM_047426157.1:c.651C>T, XM_047426152.1:c.651C>T, XM_047426153.1:c.651C>T, XM_047426154.1:c.651C>T, XM_047426155.1:c.651C>T, XM_047426159.1:c.651C>T, XM_047426161.1:c.651C>T

Select item 14841663826.

rs1484166382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20704827 (GRCh38)
1:21031320 (GRCh37)
Canonical SPDI:: NC_000001.11:20704826:G:A
Gene:: KIF17 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20704827G>A, NC_000001.10:g.21031320G>A, NM_020816.4:c.743C>T, NM_020816.3:c.743C>T, NM_020816.2:c.743C>T, NM_001122819.3:c.743C>T, NM_001122819.2:c.743C>T, NM_001122819.1:c.743C>T, NM_001287212.2:c.443C>T, NM_001287212.1:c.443C>T, XR_007062426.1:n.1044C>T, XM_047426158.1:c.443C>T, XM_047426151.1:c.743C>T, XM_047426146.1:c.743C>T, XM_047426147.1:c.743C>T, XM_047426148.1:c.743C>T, XM_047426149.1:c.743C>T, XM_047426150.1:c.743C>T, XM_047426156.1:c.743C>T, XM_047426157.1:c.743C>T, XM_047426152.1:c.743C>T, XM_047426153.1:c.743C>T, XM_047426154.1:c.743C>T, XM_047426155.1:c.743C>T, XM_047426159.1:c.743C>T, XM_047426161.1:c.743C>T, NP_065867.2:p.Ser248Phe, NP_001116291.1:p.Ser248Phe, NP_001274141.1:p.Ser148Phe, XP_047282114.1:p.Ser148Phe, XP_047282107.1:p.Ser248Phe, XP_047282102.1:p.Ser248Phe, XP_047282103.1:p.Ser248Phe, XP_047282104.1:p.Ser248Phe, XP_047282105.1:p.Ser248Phe, XP_047282106.1:p.Ser248Phe, XP_047282112.1:p.Ser248Phe, XP_047282113.1:p.Ser248Phe, XP_047282108.1:p.Ser248Phe, XP_047282109.1:p.Ser248Phe, XP_047282110.1:p.Ser248Phe, XP_047282111.1:p.Ser248Phe, XP_047282115.1:p.Ser248Phe, XP_047282117.1:p.Ser248Phe

Select item 14805340827.

rs1480534082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20704483 (GRCh38)
1:21030976 (GRCh37)
Canonical SPDI:: NC_000001.11:20704482:T:C
Gene:: KIF17 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.20704483T>C, NC_000001.10:g.21030976T>C, NM_020816.4:c.1087A>G, NM_020816.3:c.1087A>G, NM_020816.2:c.1087A>G, NM_001122819.3:c.1087A>G, NM_001122819.2:c.1087A>G, NM_001122819.1:c.1087A>G, NM_001287212.2:c.787A>G, NM_001287212.1:c.787A>G, XR_007062426.1:n.1388A>G, XM_047426158.1:c.787A>G, XM_047426151.1:c.1087A>G, XM_047426146.1:c.1087A>G, XM_047426147.1:c.1087A>G, XM_047426148.1:c.1087A>G, XM_047426149.1:c.1087A>G, XM_047426150.1:c.1087A>G, XM_047426156.1:c.1087A>G, XM_047426157.1:c.1087A>G, XM_047426152.1:c.1087A>G, XM_047426153.1:c.1087A>G, XM_047426154.1:c.1087A>G, XM_047426155.1:c.1087A>G, XM_047426159.1:c.1087A>G, XM_047426161.1:c.1087A>G, NP_065867.2:p.Ile363Val, NP_001116291.1:p.Ile363Val, NP_001274141.1:p.Ile263Val, XP_047282114.1:p.Ile263Val, XP_047282107.1:p.Ile363Val, XP_047282102.1:p.Ile363Val, XP_047282103.1:p.Ile363Val, XP_047282104.1:p.Ile363Val, XP_047282105.1:p.Ile363Val, XP_047282106.1:p.Ile363Val, XP_047282112.1:p.Ile363Val, XP_047282113.1:p.Ile363Val, XP_047282108.1:p.Ile363Val, XP_047282109.1:p.Ile363Val, XP_047282110.1:p.Ile363Val, XP_047282111.1:p.Ile363Val, XP_047282115.1:p.Ile363Val, XP_047282117.1:p.Ile363Val

Select item 14792761908.

rs1479276190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:20704468 (GRCh38)
1:21030961 (GRCh37)
Canonical SPDI:: NC_000001.11:20704467:T:A
Gene:: KIF17 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20704468T>A, NC_000001.10:g.21030961T>A, NM_020816.4:c.1102A>T, NM_020816.3:c.1102A>T, NM_020816.2:c.1102A>T, NM_001122819.3:c.1102A>T, NM_001122819.2:c.1102A>T, NM_001122819.1:c.1102A>T, NM_001287212.2:c.802A>T, NM_001287212.1:c.802A>T, XR_007062426.1:n.1403A>T, XM_047426158.1:c.802A>T, XM_047426151.1:c.1102A>T, XM_047426146.1:c.1102A>T, XM_047426147.1:c.1102A>T, XM_047426148.1:c.1102A>T, XM_047426149.1:c.1102A>T, XM_047426150.1:c.1102A>T, XM_047426156.1:c.1102A>T, XM_047426157.1:c.1102A>T, XM_047426152.1:c.1102A>T, XM_047426153.1:c.1102A>T, XM_047426154.1:c.1102A>T, XM_047426155.1:c.1102A>T, XM_047426159.1:c.1102A>T, XM_047426161.1:c.1102A>T, NP_065867.2:p.Met368Leu, NP_001116291.1:p.Met368Leu, NP_001274141.1:p.Met268Leu, XP_047282114.1:p.Met268Leu, XP_047282107.1:p.Met368Leu, XP_047282102.1:p.Met368Leu, XP_047282103.1:p.Met368Leu, XP_047282104.1:p.Met368Leu, XP_047282105.1:p.Met368Leu, XP_047282106.1:p.Met368Leu, XP_047282112.1:p.Met368Leu, XP_047282113.1:p.Met368Leu, XP_047282108.1:p.Met368Leu, XP_047282109.1:p.Met368Leu, XP_047282110.1:p.Met368Leu, XP_047282111.1:p.Met368Leu, XP_047282115.1:p.Met368Leu, XP_047282117.1:p.Met368Leu

Select item 14788931009.

rs1478893100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20684884 (GRCh38)
1:21011377 (GRCh37)
Canonical SPDI:: NC_000001.11:20684883:T:C
Gene:: KIF17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20684884T>C, NC_000001.10:g.21011377T>C, NM_020816.4:c.2156A>G, NM_020816.3:c.2156A>G, NM_020816.2:c.2156A>G, NM_001122819.3:c.2156A>G, NM_001122819.2:c.2156A>G, NM_001122819.1:c.2156A>G, NM_001287212.2:c.1856A>G, NM_001287212.1:c.1856A>G, XR_007062426.1:n.2457A>G, XM_047426158.1:c.1856A>G, XM_047426151.1:c.2156A>G, XM_047426146.1:c.2156A>G, XM_047426147.1:c.2156A>G, XM_047426148.1:c.2156A>G, XM_047426149.1:c.2156A>G, XM_047426150.1:c.2156A>G, XM_047426156.1:c.2156A>G, XM_047426157.1:c.2156A>G, XM_047426152.1:c.2156A>G, XM_047426153.1:c.2156A>G, XM_047426154.1:c.2156A>G, XM_047426155.1:c.2156A>G, XM_047426160.1:c.734A>G, NP_065867.2:p.Glu719Gly, NP_001116291.1:p.Glu719Gly, NP_001274141.1:p.Glu619Gly, XP_047282114.1:p.Glu619Gly, XP_047282107.1:p.Glu719Gly, XP_047282102.1:p.Glu719Gly, XP_047282103.1:p.Glu719Gly, XP_047282104.1:p.Glu719Gly, XP_047282105.1:p.Glu719Gly, XP_047282106.1:p.Glu719Gly, XP_047282112.1:p.Glu719Gly, XP_047282113.1:p.Glu719Gly, XP_047282108.1:p.Glu719Gly, XP_047282109.1:p.Glu719Gly, XP_047282110.1:p.Glu719Gly, XP_047282111.1:p.Glu719Gly, XP_047282116.1:p.Glu245Gly

Select item 147838327110.

rs1478383271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20704765 (GRCh38)
1:21031258 (GRCh37)
Canonical SPDI:: NC_000001.11:20704764:C:T
Gene:: KIF17 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.20704765C>T, NC_000001.10:g.21031258C>T, NM_020816.4:c.805G>A, NM_020816.3:c.805G>A, NM_020816.2:c.805G>A, NM_001122819.3:c.805G>A, NM_001122819.2:c.805G>A, NM_001122819.1:c.805G>A, NM_001287212.2:c.505G>A, NM_001287212.1:c.505G>A, XR_007062426.1:n.1106G>A, XM_047426158.1:c.505G>A, XM_047426151.1:c.805G>A, XM_047426146.1:c.805G>A, XM_047426147.1:c.805G>A, XM_047426148.1:c.805G>A, XM_047426149.1:c.805G>A, XM_047426150.1:c.805G>A, XM_047426156.1:c.805G>A, XM_047426157.1:c.805G>A, XM_047426152.1:c.805G>A, XM_047426153.1:c.805G>A, XM_047426154.1:c.805G>A, XM_047426155.1:c.805G>A, XM_047426159.1:c.805G>A, XM_047426161.1:c.805G>A, NP_065867.2:p.Ala269Thr, NP_001116291.1:p.Ala269Thr, NP_001274141.1:p.Ala169Thr, XP_047282114.1:p.Ala169Thr, XP_047282107.1:p.Ala269Thr, XP_047282102.1:p.Ala269Thr, XP_047282103.1:p.Ala269Thr, XP_047282104.1:p.Ala269Thr, XP_047282105.1:p.Ala269Thr, XP_047282106.1:p.Ala269Thr, XP_047282112.1:p.Ala269Thr, XP_047282113.1:p.Ala269Thr, XP_047282108.1:p.Ala269Thr, XP_047282109.1:p.Ala269Thr, XP_047282110.1:p.Ala269Thr, XP_047282111.1:p.Ala269Thr, XP_047282115.1:p.Ala269Thr, XP_047282117.1:p.Ala269Thr

Select item 147691655911.

rs1476916559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20664689 (GRCh38)
1:20991182 (GRCh37)
Canonical SPDI:: NC_000001.11:20664688:A:G
Gene:: KIF17 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.05985/710 (ALFA)
G=0.05594/162 (KOREAN)
HGVS:: NC_000001.11:g.20664689A>G, NC_000001.10:g.20991182A>G, NG_032064.1:g.1856T>C, NM_020816.4:c.2985T>C, NM_020816.3:c.2985T>C, NM_020816.2:c.2985T>C, NM_001122819.3:c.2982T>C, NM_001122819.2:c.2982T>C, NM_001122819.1:c.2982T>C, NM_001287212.2:c.2685T>C, NM_001287212.1:c.2685T>C, XR_007062426.1:n.3286T>C, XM_047426158.1:c.2681T>C, XM_047426151.1:c.2985T>C, XM_047426146.1:c.2981T>C, XM_047426147.1:c.2978T>C, XM_047426148.1:c.2985T>C, XM_047426149.1:c.2982T>C, XM_047426150.1:c.2981T>C, XM_047426160.1:c.1559T>C, XP_047282114.1:p.Leu894Pro, XP_047282102.1:p.Leu994Pro, XP_047282103.1:p.Leu993Pro, XP_047282106.1:p.Leu994Pro, XP_047282116.1:p.Leu520Pro

Select item 147656109612.

rs1476561096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20670480 (GRCh38)
1:20996973 (GRCh37)
Canonical SPDI:: NC_000001.11:20670479:C:T
Gene:: KIF17 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20670480C>T, NC_000001.10:g.20996973C>T, NM_020816.4:c.2734G>A, NM_020816.3:c.2734G>A, NM_020816.2:c.2734G>A, NM_001122819.3:c.2731G>A, NM_001122819.2:c.2731G>A, NM_001122819.1:c.2731G>A, NM_001287212.2:c.2434G>A, NM_001287212.1:c.2434G>A, XR_007062426.1:n.3035G>A, XM_047426158.1:c.2430G>A, XM_047426151.1:c.2734G>A, XM_047426146.1:c.2730G>A, XM_047426147.1:c.2727G>A, XM_047426148.1:c.2734G>A, XM_047426149.1:c.2731G>A, XM_047426150.1:c.2730G>A, XM_047426156.1:c.2734G>A, XM_047426157.1:c.2731G>A, XM_047426152.1:c.2730G>A, XM_047426153.1:c.2734G>A, XM_047426154.1:c.2731G>A, XM_047426155.1:c.2730G>A, XM_047426160.1:c.1308G>A, NP_065867.2:p.Gly912Arg, NP_001116291.1:p.Gly911Arg, NP_001274141.1:p.Gly812Arg, XP_047282107.1:p.Gly912Arg, XP_047282104.1:p.Gly912Arg, XP_047282105.1:p.Gly911Arg, XP_047282112.1:p.Gly912Arg, XP_047282113.1:p.Gly911Arg, XP_047282109.1:p.Gly912Arg, XP_047282110.1:p.Gly911Arg

Select item 147583038313.

rs1475830383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20704533 (GRCh38)
1:21031026 (GRCh37)
Canonical SPDI:: NC_000001.11:20704532:T:C
Gene:: KIF17 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.20704533T>C, NC_000001.10:g.21031026T>C, NM_020816.4:c.1037A>G, NM_020816.3:c.1037A>G, NM_020816.2:c.1037A>G, NM_001122819.3:c.1037A>G, NM_001122819.2:c.1037A>G, NM_001122819.1:c.1037A>G, NM_001287212.2:c.737A>G, NM_001287212.1:c.737A>G, XR_007062426.1:n.1338A>G, XM_047426158.1:c.737A>G, XM_047426151.1:c.1037A>G, XM_047426146.1:c.1037A>G, XM_047426147.1:c.1037A>G, XM_047426148.1:c.1037A>G, XM_047426149.1:c.1037A>G, XM_047426150.1:c.1037A>G, XM_047426156.1:c.1037A>G, XM_047426157.1:c.1037A>G, XM_047426152.1:c.1037A>G, XM_047426153.1:c.1037A>G, XM_047426154.1:c.1037A>G, XM_047426155.1:c.1037A>G, XM_047426159.1:c.1037A>G, XM_047426161.1:c.1037A>G, NP_065867.2:p.Lys346Arg, NP_001116291.1:p.Lys346Arg, NP_001274141.1:p.Lys246Arg, XP_047282114.1:p.Lys246Arg, XP_047282107.1:p.Lys346Arg, XP_047282102.1:p.Lys346Arg, XP_047282103.1:p.Lys346Arg, XP_047282104.1:p.Lys346Arg, XP_047282105.1:p.Lys346Arg, XP_047282106.1:p.Lys346Arg, XP_047282112.1:p.Lys346Arg, XP_047282113.1:p.Lys346Arg, XP_047282108.1:p.Lys346Arg, XP_047282109.1:p.Lys346Arg, XP_047282110.1:p.Lys346Arg, XP_047282111.1:p.Lys346Arg, XP_047282115.1:p.Lys346Arg, XP_047282117.1:p.Lys346Arg

Select item 147570932014.

rs1475709320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:20687639 (GRCh38)
1:21014132 (GRCh37)
Canonical SPDI:: NC_000001.11:20687638:C:G
Gene:: KIF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000001.11:g.20687639C>G, NC_000001.10:g.21014132C>G, NM_020816.4:c.1687G>C, NM_020816.3:c.1687G>C, NM_020816.2:c.1687G>C, NM_001122819.3:c.1687G>C, NM_001122819.2:c.1687G>C, NM_001122819.1:c.1687G>C, NM_001287212.2:c.1387G>C, NM_001287212.1:c.1387G>C, XR_007062426.1:n.1988G>C, XM_047426158.1:c.1387G>C, XM_047426151.1:c.1687G>C, XM_047426146.1:c.1687G>C, XM_047426147.1:c.1687G>C, XM_047426148.1:c.1687G>C, XM_047426149.1:c.1687G>C, XM_047426150.1:c.1687G>C, XM_047426156.1:c.1687G>C, XM_047426157.1:c.1687G>C, XM_047426152.1:c.1687G>C, XM_047426153.1:c.1687G>C, XM_047426154.1:c.1687G>C, XM_047426155.1:c.1687G>C, XM_047426159.1:c.1687G>C, XM_047426160.1:c.265G>C, NP_065867.2:p.Glu563Gln, NP_001116291.1:p.Glu563Gln, NP_001274141.1:p.Glu463Gln, XP_047282114.1:p.Glu463Gln, XP_047282107.1:p.Glu563Gln, XP_047282102.1:p.Glu563Gln, XP_047282103.1:p.Glu563Gln, XP_047282104.1:p.Glu563Gln, XP_047282105.1:p.Glu563Gln, XP_047282106.1:p.Glu563Gln, XP_047282112.1:p.Glu563Gln, XP_047282113.1:p.Glu563Gln, XP_047282108.1:p.Glu563Gln, XP_047282109.1:p.Glu563Gln, XP_047282110.1:p.Glu563Gln, XP_047282111.1:p.Glu563Gln, XP_047282115.1:p.Glu563Gln, XP_047282116.1:p.Glu89Gln

Select item 147557461315.

rs1475574613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20687936 (GRCh38)
1:21014429 (GRCh37)
Canonical SPDI:: NC_000001.11:20687935:G:A,NC_000001.11:20687935:G:C
Gene:: KIF17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20687936G>A, NC_000001.11:g.20687936G>C, NC_000001.10:g.21014429G>A, NC_000001.10:g.21014429G>C, NM_020816.4:c.1390C>T, NM_020816.4:c.1390C>G, NM_020816.3:c.1390C>T, NM_020816.3:c.1390C>G, NM_020816.2:c.1390C>T, NM_020816.2:c.1390C>G, NM_001122819.3:c.1390C>T, NM_001122819.3:c.1390C>G, NM_001122819.2:c.1390C>T, NM_001122819.2:c.1390C>G, NM_001122819.1:c.1390C>T, NM_001122819.1:c.1390C>G, NM_001287212.2:c.1090C>T, NM_001287212.2:c.1090C>G, NM_001287212.1:c.1090C>T, NM_001287212.1:c.1090C>G, XR_007062426.1:n.1691C>T, XR_007062426.1:n.1691C>G, XM_047426158.1:c.1090C>T, XM_047426158.1:c.1090C>G, XM_047426151.1:c.1390C>T, XM_047426151.1:c.1390C>G, XM_047426146.1:c.1390C>T, XM_047426146.1:c.1390C>G, XM_047426147.1:c.1390C>T, XM_047426147.1:c.1390C>G, XM_047426148.1:c.1390C>T, XM_047426148.1:c.1390C>G, XM_047426149.1:c.1390C>T, XM_047426149.1:c.1390C>G, XM_047426150.1:c.1390C>T, XM_047426150.1:c.1390C>G, XM_047426156.1:c.1390C>T, XM_047426156.1:c.1390C>G, XM_047426157.1:c.1390C>T, XM_047426157.1:c.1390C>G, XM_047426152.1:c.1390C>T, XM_047426152.1:c.1390C>G, XM_047426153.1:c.1390C>T, XM_047426153.1:c.1390C>G, XM_047426154.1:c.1390C>T, XM_047426154.1:c.1390C>G, XM_047426155.1:c.1390C>T, XM_047426155.1:c.1390C>G, XM_047426159.1:c.1390C>T, XM_047426159.1:c.1390C>G, XM_047426160.1:c.-33C>T, XM_047426160.1:c.-33C>G, NP_065867.2:p.Leu464Val, NP_001116291.1:p.Leu464Val, NP_001274141.1:p.Leu364Val, XP_047282114.1:p.Leu364Val, XP_047282107.1:p.Leu464Val, XP_047282102.1:p.Leu464Val, XP_047282103.1:p.Leu464Val, XP_047282104.1:p.Leu464Val, XP_047282105.1:p.Leu464Val, XP_047282106.1:p.Leu464Val, XP_047282112.1:p.Leu464Val, XP_047282113.1:p.Leu464Val, XP_047282108.1:p.Leu464Val, XP_047282109.1:p.Leu464Val, XP_047282110.1:p.Leu464Val, XP_047282111.1:p.Leu464Val, XP_047282115.1:p.Leu464Val

Select item 147425814416.

rs1474258144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20709762 (GRCh38)
1:21036255 (GRCh37)
Canonical SPDI:: NC_000001.11:20709761:C:T
Gene:: KIF17 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.20709762C>T, NC_000001.10:g.21036255C>T, NM_020816.4:c.547G>A, NM_020816.3:c.547G>A, NM_020816.2:c.547G>A, NM_001122819.3:c.547G>A, NM_001122819.2:c.547G>A, NM_001122819.1:c.547G>A, NM_001287212.2:c.247G>A, NM_001287212.1:c.247G>A, XR_007062426.1:n.848G>A, XM_047426158.1:c.247G>A, XM_047426151.1:c.547G>A, XM_047426146.1:c.547G>A, XM_047426147.1:c.547G>A, XM_047426148.1:c.547G>A, XM_047426149.1:c.547G>A, XM_047426150.1:c.547G>A, XM_047426156.1:c.547G>A, XM_047426157.1:c.547G>A, XM_047426152.1:c.547G>A, XM_047426153.1:c.547G>A, XM_047426154.1:c.547G>A, XM_047426155.1:c.547G>A, XM_047426159.1:c.547G>A, XM_047426161.1:c.547G>A, NP_065867.2:p.Ala183Thr, NP_001116291.1:p.Ala183Thr, NP_001274141.1:p.Ala83Thr, XP_047282114.1:p.Ala83Thr, XP_047282107.1:p.Ala183Thr, XP_047282102.1:p.Ala183Thr, XP_047282103.1:p.Ala183Thr, XP_047282104.1:p.Ala183Thr, XP_047282105.1:p.Ala183Thr, XP_047282106.1:p.Ala183Thr, XP_047282112.1:p.Ala183Thr, XP_047282113.1:p.Ala183Thr, XP_047282108.1:p.Ala183Thr, XP_047282109.1:p.Ala183Thr, XP_047282110.1:p.Ala183Thr, XP_047282111.1:p.Ala183Thr, XP_047282115.1:p.Ala183Thr, XP_047282117.1:p.Ala183Thr

Select item 147409319217.

rs1474093192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20713460 (GRCh38)
1:21039953 (GRCh37)
Canonical SPDI:: NC_000001.11:20713459:C:T
Gene:: KIF17 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.20713460C>T, NC_000001.10:g.21039953C>T, NM_020816.4:c.474G>A, NM_020816.3:c.474G>A, NM_020816.2:c.474G>A, NM_001122819.3:c.474G>A, NM_001122819.2:c.474G>A, NM_001122819.1:c.474G>A, NM_001287212.2:c.174G>A, NM_001287212.1:c.174G>A, XR_007062426.1:n.775G>A, XM_047426158.1:c.174G>A, XM_047426151.1:c.474G>A, XM_047426146.1:c.474G>A, XM_047426147.1:c.474G>A, XM_047426148.1:c.474G>A, XM_047426149.1:c.474G>A, XM_047426150.1:c.474G>A, XM_047426156.1:c.474G>A, XM_047426157.1:c.474G>A, XM_047426152.1:c.474G>A, XM_047426153.1:c.474G>A, XM_047426154.1:c.474G>A, XM_047426155.1:c.474G>A, XM_047426159.1:c.474G>A, XM_047426161.1:c.474G>A

Select item 147354004018.

rs1473540040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20713547 (GRCh38)
1:21040040 (GRCh37)
Canonical SPDI:: NC_000001.11:20713546:C:T
Gene:: KIF17 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20713547C>T, NC_000001.10:g.21040040C>T, NM_020816.4:c.387G>A, NM_020816.3:c.387G>A, NM_020816.2:c.387G>A, NM_001122819.3:c.387G>A, NM_001122819.2:c.387G>A, NM_001122819.1:c.387G>A, NM_001287212.2:c.87G>A, NM_001287212.1:c.87G>A, XR_007062426.1:n.688G>A, XM_047426158.1:c.87G>A, XM_047426151.1:c.387G>A, XM_047426146.1:c.387G>A, XM_047426147.1:c.387G>A, XM_047426148.1:c.387G>A, XM_047426149.1:c.387G>A, XM_047426150.1:c.387G>A, XM_047426156.1:c.387G>A, XM_047426157.1:c.387G>A, XM_047426152.1:c.387G>A, XM_047426153.1:c.387G>A, XM_047426154.1:c.387G>A, XM_047426155.1:c.387G>A, XM_047426159.1:c.387G>A, XM_047426161.1:c.387G>A

Select item 147125401719.

rs1471254017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:20672166 (GRCh38)
1:20998659 (GRCh37)
Canonical SPDI:: NC_000001.11:20672165:G:A,NC_000001.11:20672165:G:T
Gene:: KIF17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20672166G>A, NC_000001.11:g.20672166G>T, NC_000001.10:g.20998659G>A, NC_000001.10:g.20998659G>T, NM_020816.4:c.2494C>T, NM_020816.4:c.2494C>A, NM_020816.3:c.2494C>T, NM_020816.3:c.2494C>A, NM_020816.2:c.2494C>T, NM_020816.2:c.2494C>A, NM_001122819.3:c.2494C>T, NM_001122819.3:c.2494C>A, NM_001122819.2:c.2494C>T, NM_001122819.2:c.2494C>A, NM_001122819.1:c.2494C>T, NM_001122819.1:c.2494C>A, NM_001287212.2:c.2194C>T, NM_001287212.2:c.2194C>A, NM_001287212.1:c.2194C>T, NM_001287212.1:c.2194C>A, XR_007062426.1:n.2795C>T, XR_007062426.1:n.2795C>A, XM_047426158.1:c.2194C>T, XM_047426158.1:c.2194C>A, XM_047426151.1:c.2494C>T, XM_047426151.1:c.2494C>A, XM_047426146.1:c.2494C>T, XM_047426146.1:c.2494C>A, XM_047426147.1:c.2494C>T, XM_047426147.1:c.2494C>A, XM_047426148.1:c.2494C>T, XM_047426148.1:c.2494C>A, XM_047426149.1:c.2494C>T, XM_047426149.1:c.2494C>A, XM_047426150.1:c.2494C>T, XM_047426150.1:c.2494C>A, XM_047426156.1:c.2494C>T, XM_047426156.1:c.2494C>A, XM_047426157.1:c.2494C>T, XM_047426157.1:c.2494C>A, XM_047426152.1:c.2494C>T, XM_047426152.1:c.2494C>A, XM_047426153.1:c.2494C>T, XM_047426153.1:c.2494C>A, XM_047426154.1:c.2494C>T, XM_047426154.1:c.2494C>A, XM_047426155.1:c.2494C>T, XM_047426155.1:c.2494C>A, XM_047426160.1:c.1072C>T, XM_047426160.1:c.1072C>A, NP_065867.2:p.Leu832Met, NP_001116291.1:p.Leu832Met, NP_001274141.1:p.Leu732Met, XP_047282114.1:p.Leu732Met, XP_047282107.1:p.Leu832Met, XP_047282102.1:p.Leu832Met, XP_047282103.1:p.Leu832Met, XP_047282104.1:p.Leu832Met, XP_047282105.1:p.Leu832Met, XP_047282106.1:p.Leu832Met, XP_047282112.1:p.Leu832Met, XP_047282113.1:p.Leu832Met, XP_047282108.1:p.Leu832Met, XP_047282109.1:p.Leu832Met, XP_047282110.1:p.Leu832Met, XP_047282111.1:p.Leu832Met, XP_047282116.1:p.Leu358Met

Select item 147061333020.

rs1470613330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20687434 (GRCh38)
1:21013927 (GRCh37)
Canonical SPDI:: NC_000001.11:20687433:G:A
Gene:: KIF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000001.11:g.20687434G>A, NC_000001.10:g.21013927G>A, NM_020816.4:c.1892C>T, NM_020816.3:c.1892C>T, NM_020816.2:c.1892C>T, NM_001122819.3:c.1892C>T, NM_001122819.2:c.1892C>T, NM_001122819.1:c.1892C>T, NM_001287212.2:c.1592C>T, NM_001287212.1:c.1592C>T, XR_007062426.1:n.2193C>T, XM_047426158.1:c.1592C>T, XM_047426151.1:c.1892C>T, XM_047426146.1:c.1892C>T, XM_047426147.1:c.1892C>T, XM_047426148.1:c.1892C>T, XM_047426149.1:c.1892C>T, XM_047426150.1:c.1892C>T, XM_047426156.1:c.1892C>T, XM_047426157.1:c.1892C>T, XM_047426152.1:c.1892C>T, XM_047426153.1:c.1892C>T, XM_047426154.1:c.1892C>T, XM_047426155.1:c.1892C>T, XM_047426159.1:c.1892C>T, XM_047426160.1:c.470C>T, NP_065867.2:p.Ala631Val, NP_001116291.1:p.Ala631Val, NP_001274141.1:p.Ala531Val, XP_047282114.1:p.Ala531Val, XP_047282107.1:p.Ala631Val, XP_047282102.1:p.Ala631Val, XP_047282103.1:p.Ala631Val, XP_047282104.1:p.Ala631Val, XP_047282105.1:p.Ala631Val, XP_047282106.1:p.Ala631Val, XP_047282112.1:p.Ala631Val, XP_047282113.1:p.Ala631Val, XP_047282108.1:p.Ala631Val, XP_047282109.1:p.Ala631Val, XP_047282110.1:p.Ala631Val, XP_047282111.1:p.Ala631Val, XP_047282115.1:p.Ala631Val, XP_047282116.1:p.Ala157Val

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