SNP Links for Protein (Select 31543198) - SNP

Links from Protein

Items: 1 to 20 of 424

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Select item 14851235151.

rs1485123515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:36344188 (GRCh38)
1:36809789 (GRCh37)
Canonical SPDI:: NC_000001.11:36344187:G:T
Gene:: STK40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36344188G>T, NC_000001.10:g.36809789G>T, NM_032017.3:c.816C>A, NM_032017.2:c.816C>A, NM_032017.1:c.816C>A, NM_001282546.2:c.831C>A, NM_001282546.1:c.831C>A, NM_001282547.2:c.816C>A, NM_001282547.1:c.816C>A, NP_114406.1:p.Phe272Leu, NP_001269475.1:p.Phe277Leu, NP_001269476.1:p.Phe272Leu

Select item 14846406342.

rs1484640634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:36343925 (GRCh38)
1:36809526 (GRCh37)
Canonical SPDI:: NC_000001.11:36343924:A:C,NC_000001.11:36343924:A:G
Gene:: STK40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.36343925A>C, NC_000001.11:g.36343925A>G, NC_000001.10:g.36809526A>C, NC_000001.10:g.36809526A>G, NM_032017.3:c.939T>G, NM_032017.3:c.939T>C, NM_032017.2:c.939T>G, NM_032017.2:c.939T>C, NM_032017.1:c.939T>G, NM_032017.1:c.939T>C, NM_001282546.2:c.954T>G, NM_001282546.2:c.954T>C, NM_001282546.1:c.954T>G, NM_001282546.1:c.954T>C, NM_001282547.2:c.939T>G, NM_001282547.2:c.939T>C, NM_001282547.1:c.939T>G, NM_001282547.1:c.939T>C

Select item 14841917603.

rs1484191760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:36341873 (GRCh38)
1:36807474 (GRCh37)
Canonical SPDI:: NC_000001.11:36341872:C:G
Gene:: STK40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36341873C>G, NC_000001.10:g.36807474C>G, NM_032017.3:c.1190G>C, NM_032017.2:c.1190G>C, NM_032017.1:c.1190G>C, NM_001282546.2:c.1205G>C, NM_001282546.1:c.1205G>C, NM_001282547.2:c.1190G>C, NM_001282547.1:c.1190G>C, NP_114406.1:p.Ser397Thr, NP_001269475.1:p.Ser402Thr, NP_001269476.1:p.Ser397Thr

Select item 14765311284.

rs1476531128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36341846 (GRCh38)
1:36807447 (GRCh37)
Canonical SPDI:: NC_000001.11:36341845:C:T
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36341846C>T, NC_000001.10:g.36807447C>T, NM_032017.3:c.1217G>A, NM_032017.2:c.1217G>A, NM_032017.1:c.1217G>A, NM_001282546.2:c.1232G>A, NM_001282546.1:c.1232G>A, NM_001282547.2:c.1217G>A, NM_001282547.1:c.1217G>A, NP_114406.1:p.Ser406Asn, NP_001269475.1:p.Ser411Asn, NP_001269476.1:p.Ser406Asn

Select item 14757136095.

rs1475713609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:36358242 (GRCh38)
1:36823843 (GRCh37)
Canonical SPDI:: NC_000001.11:36358241:G:T
Gene:: STK40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36358242G>T, NC_000001.10:g.36823843G>T, NM_032017.3:c.339C>A, NM_032017.2:c.339C>A, NM_032017.1:c.339C>A, NM_001282546.2:c.354C>A, NM_001282546.1:c.354C>A, NM_001282547.2:c.339C>A, NM_001282547.1:c.339C>A, NP_114406.1:p.Phe113Leu, NP_001269475.1:p.Phe118Leu, NP_001269476.1:p.Phe113Leu

Select item 14715435976.

rs1471543597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36344182 (GRCh38)
1:36809783 (GRCh37)
Canonical SPDI:: NC_000001.11:36344181:G:A
Gene:: STK40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.36344182G>A, NC_000001.10:g.36809783G>A, NM_032017.3:c.822C>T, NM_032017.2:c.822C>T, NM_032017.1:c.822C>T, NM_001282546.2:c.837C>T, NM_001282546.1:c.837C>T, NM_001282547.2:c.822C>T, NM_001282547.1:c.822C>T

Select item 14677546107.

rs1467754610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36348738 (GRCh38)
1:36814339 (GRCh37)
Canonical SPDI:: NC_000001.11:36348737:C:T
Gene:: STK40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.36348738C>T, NC_000001.10:g.36814339C>T, NM_032017.3:c.701G>A, NM_032017.2:c.701G>A, NM_032017.1:c.701G>A, NM_001282546.2:c.716G>A, NM_001282546.1:c.716G>A, NM_001282547.2:c.701G>A, NM_001282547.1:c.701G>A, NP_114406.1:p.Arg234Lys, NP_001269475.1:p.Arg239Lys, NP_001269476.1:p.Arg234Lys

Select item 14600868728.

rs1460086872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:36348772 (GRCh38)
1:36814373 (GRCh37)
Canonical SPDI:: NC_000001.11:36348771:G:C
Gene:: STK40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.36348772G>C, NC_000001.10:g.36814373G>C, NM_032017.3:c.667C>G, NM_032017.2:c.667C>G, NM_032017.1:c.667C>G, NM_001282546.2:c.682C>G, NM_001282546.1:c.682C>G, NM_001282547.2:c.667C>G, NM_001282547.1:c.667C>G, NP_114406.1:p.Leu223Val, NP_001269475.1:p.Leu228Val, NP_001269476.1:p.Leu223Val

Select item 14585003689.

rs1458500368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:36344141 (GRCh38)
1:36809742 (GRCh37)
Canonical SPDI:: NC_000001.11:36344140:G:C
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36344141G>C, NC_000001.10:g.36809742G>C, NM_032017.3:c.863C>G, NM_032017.2:c.863C>G, NM_032017.1:c.863C>G, NM_001282546.2:c.878C>G, NM_001282546.1:c.878C>G, NM_001282547.2:c.863C>G, NM_001282547.1:c.863C>G, NP_114406.1:p.Ala288Gly, NP_001269475.1:p.Ala293Gly, NP_001269476.1:p.Ala288Gly

Select item 145784304910.

rs1457843049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36341925 (GRCh38)
1:36807526 (GRCh37)
Canonical SPDI:: NC_000001.11:36341924:G:A
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36341925G>A, NC_000001.10:g.36807526G>A, NM_032017.3:c.1138C>T, NM_032017.2:c.1138C>T, NM_032017.1:c.1138C>T, NM_001282546.2:c.1153C>T, NM_001282546.1:c.1153C>T, NM_001282547.2:c.1138C>T, NM_001282547.1:c.1138C>T, NP_114406.1:p.Arg380Cys, NP_001269475.1:p.Arg385Cys, NP_001269476.1:p.Arg380Cys

Select item 145555119911.

rs1455551199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36355350 (GRCh38)
1:36820951 (GRCh37)
Canonical SPDI:: NC_000001.11:36355349:G:A
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.36355350G>A, NC_000001.10:g.36820951G>A, NM_032017.3:c.426C>T, NM_032017.2:c.426C>T, NM_032017.1:c.426C>T, NM_001282546.2:c.441C>T, NM_001282546.1:c.441C>T, NM_001282547.2:c.426C>T, NM_001282547.1:c.426C>T

Select item 145499322612.

rs1454993226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36361225 (GRCh38)
1:36826826 (GRCh37)
Canonical SPDI:: NC_000001.11:36361224:G:A
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.36361225G>A, NC_000001.10:g.36826826G>A, NM_032017.3:c.108C>T, NM_032017.2:c.108C>T, NM_032017.1:c.108C>T, NM_001282546.2:c.108C>T, NM_001282546.1:c.108C>T, NM_001282547.2:c.108C>T, NM_001282547.1:c.108C>T

Select item 145201765613.

rs1452017656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36355235 (GRCh38)
1:36820836 (GRCh37)
Canonical SPDI:: NC_000001.11:36355234:C:T
Gene:: STK40 (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_000001.11:g.36355235C>T, NC_000001.10:g.36820836C>T, NM_032017.3:c.541G>A, NM_032017.2:c.541G>A, NM_032017.1:c.541G>A, NM_001282546.2:c.556G>A, NM_001282546.1:c.556G>A, NM_001282547.2:c.541G>A, NM_001282547.1:c.541G>A, NP_114406.1:p.Val181Met, NP_001269475.1:p.Val186Met, NP_001269476.1:p.Val181Met

Select item 144990059814.

rs1449900598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:36343404 (GRCh38)
1:36809005 (GRCh37)
Canonical SPDI:: NC_000001.11:36343403:T:A
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36343404T>A, NC_000001.10:g.36809005T>A, NM_032017.3:c.1049A>T, NM_032017.2:c.1049A>T, NM_032017.1:c.1049A>T, NM_001282546.2:c.1064A>T, NM_001282546.1:c.1064A>T, NM_001282547.2:c.1049A>T, NM_001282547.1:c.1049A>T, NP_114406.1:p.Asp350Val, NP_001269475.1:p.Asp355Val, NP_001269476.1:p.Asp350Val

Select item 144925255015.

rs1449252550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:36358810 (GRCh38)
1:36824411 (GRCh37)
Canonical SPDI:: NC_000001.11:36358809:C:A
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36358810C>A, NC_000001.10:g.36824411C>A, NM_032017.3:c.125G>T, NM_032017.2:c.125G>T, NM_032017.1:c.125G>T, NM_001282546.2:c.140G>T, NM_001282546.1:c.140G>T, NM_001282547.2:c.125G>T, NM_001282547.1:c.125G>T, NP_114406.1:p.Gly42Val, NP_001269475.1:p.Gly47Val, NP_001269476.1:p.Gly42Val

Select item 144875473216.

rs1448754732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:36348703 (GRCh38)
1:36814304 (GRCh37)
Canonical SPDI:: NC_000001.11:36348702:T:C
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.36348703T>C, NC_000001.10:g.36814304T>C, NM_032017.3:c.736A>G, NM_032017.2:c.736A>G, NM_032017.1:c.736A>G, NM_001282546.2:c.751A>G, NM_001282546.1:c.751A>G, NM_001282547.2:c.736A>G, NM_001282547.1:c.736A>G, NP_114406.1:p.Ser246Gly, NP_001269475.1:p.Ser251Gly, NP_001269476.1:p.Ser246Gly

Select item 143494249917.

rs1434942499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36348785 (GRCh38)
1:36814386 (GRCh37)
Canonical SPDI:: NC_000001.11:36348784:G:A
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.36348785G>A, NC_000001.10:g.36814386G>A, NM_032017.3:c.654C>T, NM_032017.2:c.654C>T, NM_032017.1:c.654C>T, NM_001282546.2:c.669C>T, NM_001282546.1:c.669C>T, NM_001282547.2:c.654C>T, NM_001282547.1:c.654C>T

Select item 143457923918.

rs1434579239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:36343442 (GRCh38)
1:36809043 (GRCh37)
Canonical SPDI:: NC_000001.11:36343441:G:A,NC_000001.11:36343441:G:C
Gene:: STK40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36343442G>A, NC_000001.11:g.36343442G>C, NC_000001.10:g.36809043G>A, NC_000001.10:g.36809043G>C, NM_032017.3:c.1011C>T, NM_032017.3:c.1011C>G, NM_032017.2:c.1011C>T, NM_032017.2:c.1011C>G, NM_032017.1:c.1011C>T, NM_032017.1:c.1011C>G, NM_001282546.2:c.1026C>T, NM_001282546.2:c.1026C>G, NM_001282546.1:c.1026C>T, NM_001282546.1:c.1026C>G, NM_001282547.2:c.1011C>T, NM_001282547.2:c.1011C>G, NM_001282547.1:c.1011C>T, NM_001282547.1:c.1011C>G

Select item 143330940719.

rs1433309407 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:36341943 (GRCh38)
1:36807544 (GRCh37)
Canonical SPDI:: NC_000001.11:36341942:C:
Gene:: STK40 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.36341943del, NC_000001.10:g.36807544del, NM_032017.3:c.1120del, NM_032017.2:c.1120del, NM_032017.1:c.1120del, NM_001282546.2:c.1135del, NM_001282546.1:c.1135del, NM_001282547.2:c.1120del, NM_001282547.1:c.1120del, NP_114406.1:p.Glu374fs, NP_001269475.1:p.Glu379fs, NP_001269476.1:p.Glu374fs

Select item 143061225520.

rs1430612255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36348780 (GRCh38)
1:36814381 (GRCh37)
Canonical SPDI:: NC_000001.11:36348779:C:T
Gene:: STK40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.36348780C>T, NC_000001.10:g.36814381C>T, NM_032017.3:c.659G>A, NM_032017.2:c.659G>A, NM_032017.1:c.659G>A, NM_001282546.2:c.674G>A, NM_001282546.1:c.674G>A, NM_001282547.2:c.659G>A, NM_001282547.1:c.659G>A, NP_114406.1:p.Gly220Glu, NP_001269475.1:p.Gly225Glu, NP_001269476.1:p.Gly220Glu

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