SNP Links for Protein (Select 532164706) - SNP

Links from Protein

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Select item 14889128621.

rs1488912862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44977366 (GRCh38)
19:45480623 (GRCh37)
Canonical SPDI:: NC_000019.10:44977365:C:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44977366C>T, NC_000019.9:g.45480623C>T, NM_001294.4:c.492C>T, NM_001294.3:c.492C>T, NM_001294.2:c.492C>T, NM_001282176.2:c.186C>T, NM_001282176.1:c.186C>T, NM_001282175.2:c.450C>T, NM_001282175.1:c.450C>T, NR_040007.1:n.537C>T, NR_040006.1:n.513C>T, NM_001199468.1:c.492C>T

Select item 14853782362.

rs1485378236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44977376 (GRCh38)
19:45480633 (GRCh37)
Canonical SPDI:: NC_000019.10:44977375:G:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_variant,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_000019.10:g.44977376G>A, NC_000019.9:g.45480633G>A, NM_001294.4:c.502G>A, NM_001294.3:c.502G>A, NM_001294.2:c.502G>A, NM_001282176.2:c.196G>A, NM_001282176.1:c.196G>A, NM_001282175.2:c.460G>A, NM_001282175.1:c.460G>A, NR_040007.1:n.547G>A, NR_040006.1:n.523G>A, NM_001199468.1:c.502G>A, NP_001285.1:p.Val168Ile, NP_001269105.1:p.Val66Ile, NP_001269104.1:p.Val154Ile

Select item 14846561053.

rs1484656105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44974445 (GRCh38)
19:45477702 (GRCh37)
Canonical SPDI:: NC_000019.10:44974444:C:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44974445C>T, NC_000019.9:g.45477702C>T, NM_001294.4:c.316C>T, NM_001294.3:c.316C>T, NM_001294.2:c.316C>T, NM_001282176.2:c.10C>T, NM_001282176.1:c.10C>T, NM_001282175.2:c.274C>T, NM_001282175.1:c.274C>T, NR_040007.1:n.361C>T, NR_040006.1:n.337C>T, NM_001199468.1:c.316C>T, NP_001285.1:p.His106Tyr, NP_001269105.1:p.His4Tyr, NP_001269104.1:p.His92Tyr

Select item 14840024604.

rs1484002460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44988137 (GRCh38)
19:45491395 (GRCh37)
Canonical SPDI:: NC_000019.10:44988136:G:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_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 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.44988137G>A, NC_000019.9:g.45491395G>A, NM_001294.4:c.1096G>A, NM_001294.3:c.1096G>A, NM_001294.2:c.1096G>A, NM_001282176.2:c.790G>A, NM_001282176.1:c.790G>A, NM_001282175.2:c.1054G>A, NM_001282175.1:c.1054G>A, NR_040007.1:n.1141G>A, NR_040006.1:n.1117G>A, NM_001199468.1:c.1096G>A, NP_001285.1:p.Val366Ile, NP_001269105.1:p.Val264Ile, NP_001269104.1:p.Val352Ile

Select item 14821098905.

rs1482109890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:44988080 (GRCh38)
19:45491338 (GRCh37)
Canonical SPDI:: NC_000019.10:44988079:G:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.44988080G>T, NC_000019.9:g.45491338G>T, NM_001294.4:c.1039G>T, NM_001294.3:c.1039G>T, NM_001294.2:c.1039G>T, NM_001282176.2:c.733G>T, NM_001282176.1:c.733G>T, NM_001282175.2:c.997G>T, NM_001282175.1:c.997G>T, NR_040007.1:n.1084G>T, NR_040006.1:n.1060G>T, NM_001199468.1:c.1039G>T, NP_001285.1:p.Val347Leu, NP_001269105.1:p.Val245Leu, NP_001269104.1:p.Val333Leu

Select item 14795443476.

rs1479544347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44992824 (GRCh38)
19:45496082 (GRCh37)
Canonical SPDI:: NC_000019.10:44992823:C:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.44992824C>T, NC_000019.9:g.45496082C>T, NM_001294.4:c.1937C>T, NM_001294.3:c.1937C>T, NM_001294.2:c.1937C>T, NM_001282176.2:c.1631C>T, NM_001282176.1:c.1631C>T, NM_001282175.2:c.1895C>T, NM_001282175.1:c.1895C>T, NR_040007.1:n.1982C>T, NR_040006.1:n.1958C>T, NM_001199468.1:c.1937C>T, NP_001285.1:p.Thr646Ile, NP_001269105.1:p.Thr544Ile, NP_001269104.1:p.Thr632Ile

Select item 14783112997.

rs1478311299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44987292 (GRCh38)
19:45490550 (GRCh37)
Canonical SPDI:: NC_000019.10:44987291:C:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44987292C>T, NC_000019.9:g.45490550C>T, NM_001294.4:c.907C>T, NM_001294.3:c.907C>T, NM_001294.2:c.907C>T, NM_001282176.2:c.601C>T, NM_001282176.1:c.601C>T, NM_001282175.2:c.865C>T, NM_001282175.1:c.865C>T, NR_040007.1:n.952C>T, NR_040006.1:n.928C>T, NM_001199468.1:c.907C>T, NP_001285.1:p.Leu303Phe, NP_001269105.1:p.Leu201Phe, NP_001269104.1:p.Leu289Phe

Select item 14757909978.

rs1475790997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44992334 (GRCh38)
19:45495592 (GRCh37)
Canonical SPDI:: NC_000019.10:44992333:A:G
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44992334A>G, NC_000019.9:g.45495592A>G, NM_001294.4:c.1657A>G, NM_001294.3:c.1657A>G, NM_001294.2:c.1657A>G, NM_001282176.2:c.1351A>G, NM_001282176.1:c.1351A>G, NM_001282175.2:c.1615A>G, NM_001282175.1:c.1615A>G, NR_040007.1:n.1702A>G, NR_040006.1:n.1678A>G, NM_001199468.1:c.1657A>G, NP_001285.1:p.Ile553Val, NP_001269105.1:p.Ile451Val, NP_001269104.1:p.Ile539Val

Select item 14708445319.

rs1470844531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44991320 (GRCh38)
19:45494578 (GRCh37)
Canonical SPDI:: NC_000019.10:44991319:A:G
Gene:: CLPTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44991320A>G, NC_000019.9:g.45494578A>G, NM_001294.4:c.1502A>G, NM_001294.3:c.1502A>G, NM_001294.2:c.1502A>G, NM_001282176.2:c.1196A>G, NM_001282176.1:c.1196A>G, NM_001282175.2:c.1460A>G, NM_001282175.1:c.1460A>G, NR_040007.1:n.1547A>G, NR_040006.1:n.1523A>G, NM_001199468.1:c.1502A>G, NP_001285.1:p.Lys501Arg, NP_001269105.1:p.Lys399Arg, NP_001269104.1:p.Lys487Arg

Select item 146875291710.

rs1468752917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44977381 (GRCh38)
19:45480638 (GRCh37)
Canonical SPDI:: NC_000019.10:44977380:C:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.44977381C>T, NC_000019.9:g.45480638C>T, NM_001294.4:c.507C>T, NM_001294.3:c.507C>T, NM_001294.2:c.507C>T, NM_001282176.2:c.201C>T, NM_001282176.1:c.201C>T, NM_001282175.2:c.465C>T, NM_001282175.1:c.465C>T, NR_040007.1:n.552C>T, NR_040006.1:n.528C>T, NM_001199468.1:c.507C>T

Select item 146478661411.

rs1464786614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44988113 (GRCh38)
19:45491371 (GRCh37)
Canonical SPDI:: NC_000019.10:44988112:G:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.44988113G>A, NC_000019.9:g.45491371G>A, NM_001294.4:c.1072G>A, NM_001294.3:c.1072G>A, NM_001294.2:c.1072G>A, NM_001282176.2:c.766G>A, NM_001282176.1:c.766G>A, NM_001282175.2:c.1030G>A, NM_001282175.1:c.1030G>A, NR_040007.1:n.1117G>A, NR_040006.1:n.1093G>A, NM_001199468.1:c.1072G>A, NP_001285.1:p.Ala358Thr, NP_001269105.1:p.Ala256Thr, NP_001269104.1:p.Ala344Thr

Select item 146401934912.

rs1464019349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:44990893 (GRCh38)
19:45494151 (GRCh37)
Canonical SPDI:: NC_000019.10:44990892:C:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44990893C>A, NC_000019.9:g.45494151C>A, NM_001294.4:c.1367C>A, NM_001294.3:c.1367C>A, NM_001294.2:c.1367C>A, NM_001282176.2:c.1061C>A, NM_001282176.1:c.1061C>A, NM_001282175.2:c.1325C>A, NM_001282175.1:c.1325C>A, NR_040007.1:n.1412C>A, NR_040006.1:n.1388C>A, NM_001199468.1:c.1367C>A, NP_001285.1:p.Ser456Tyr, NP_001269105.1:p.Ser354Tyr, NP_001269104.1:p.Ser442Tyr

Select item 146211225213.

rs1462112252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44992754 (GRCh38)
19:45496012 (GRCh37)
Canonical SPDI:: NC_000019.10:44992753:C:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44992754C>T, NC_000019.9:g.45496012C>T, NM_001294.4:c.1867C>T, NM_001294.3:c.1867C>T, NM_001294.2:c.1867C>T, NM_001282176.2:c.1561C>T, NM_001282176.1:c.1561C>T, NM_001282175.2:c.1825C>T, NM_001282175.1:c.1825C>T, NR_040007.1:n.1912C>T, NR_040006.1:n.1888C>T, NM_001199468.1:c.1867C>T, NP_001285.1:p.Pro623Ser, NP_001269105.1:p.Pro521Ser, NP_001269104.1:p.Pro609Ser

Select item 146081300814.

rs1460813008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44986472 (GRCh38)
19:45489730 (GRCh37)
Canonical SPDI:: NC_000019.10:44986471:G:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44986472G>A, NC_000019.9:g.45489730G>A, NM_001294.4:c.690G>A, NM_001294.3:c.690G>A, NM_001294.2:c.690G>A, NM_001282176.2:c.384G>A, NM_001282176.1:c.384G>A, NM_001282175.2:c.648G>A, NM_001282175.1:c.648G>A, NR_040007.1:n.735G>A, NR_040006.1:n.711G>A, NM_001199468.1:c.690G>A

Select item 145862722515.

rs1458627225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44986527 (GRCh38)
19:45489785 (GRCh37)
Canonical SPDI:: NC_000019.10:44986526:G:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44986527G>A, NC_000019.9:g.45489785G>A, NM_001294.4:c.745G>A, NM_001294.3:c.745G>A, NM_001294.2:c.745G>A, NM_001282176.2:c.439G>A, NM_001282176.1:c.439G>A, NM_001282175.2:c.703G>A, NM_001282175.1:c.703G>A, NR_040007.1:n.790G>A, NR_040006.1:n.766G>A, NM_001199468.1:c.745G>A, NP_001285.1:p.Asp249Asn, NP_001269105.1:p.Asp147Asn, NP_001269104.1:p.Asp235Asn

Select item 145776227916.

rs1457762279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44988152 (GRCh38)
19:45491410 (GRCh37)
Canonical SPDI:: NC_000019.10:44988151:G:A
Gene:: CLPTM1 (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=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.44988152G>A, NC_000019.9:g.45491410G>A, NM_001294.4:c.1111G>A, NM_001294.3:c.1111G>A, NM_001294.2:c.1111G>A, NM_001282176.2:c.805G>A, NM_001282176.1:c.805G>A, NM_001282175.2:c.1069G>A, NM_001282175.1:c.1069G>A, NR_040007.1:n.1156G>A, NR_040006.1:n.1132G>A, NM_001199468.1:c.1111G>A, NP_001285.1:p.Glu371Lys, NP_001269105.1:p.Glu269Lys, NP_001269104.1:p.Glu357Lys

Select item 145449534717.

rs1454495347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:44988124 (GRCh38)
19:45491382 (GRCh37)
Canonical SPDI:: NC_000019.10:44988123:C:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44988124C>A, NC_000019.9:g.45491382C>A, NM_001294.4:c.1083C>A, NM_001294.3:c.1083C>A, NM_001294.2:c.1083C>A, NM_001282176.2:c.777C>A, NM_001282176.1:c.777C>A, NM_001282175.2:c.1041C>A, NM_001282175.1:c.1041C>A, NR_040007.1:n.1128C>A, NR_040006.1:n.1104C>A, NM_001199468.1:c.1083C>A

Select item 145263802218.

rs1452638022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44986537 (GRCh38)
19:45489795 (GRCh37)
Canonical SPDI:: NC_000019.10:44986536:C:T
Gene:: CLPTM1 (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_000019.10:g.44986537C>T, NC_000019.9:g.45489795C>T, NM_001294.4:c.755C>T, NM_001294.3:c.755C>T, NM_001294.2:c.755C>T, NM_001282176.2:c.449C>T, NM_001282176.1:c.449C>T, NM_001282175.2:c.713C>T, NM_001282175.1:c.713C>T, NR_040007.1:n.800C>T, NR_040006.1:n.776C>T, NM_001199468.1:c.755C>T, NP_001285.1:p.Pro252Leu, NP_001269105.1:p.Pro150Leu, NP_001269104.1:p.Pro238Leu

Select item 145186934019.

rs1451869340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44992652 (GRCh38)
19:45495910 (GRCh37)
Canonical SPDI:: NC_000019.10:44992651:C:T
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.44992652C>T, NC_000019.9:g.45495910C>T, NM_001294.4:c.1765C>T, NM_001294.3:c.1765C>T, NM_001294.2:c.1765C>T, NM_001282176.2:c.1459C>T, NM_001282176.1:c.1459C>T, NM_001282175.2:c.1723C>T, NM_001282175.1:c.1723C>T, NR_040007.1:n.1810C>T, NR_040006.1:n.1786C>T, NM_001199468.1:c.1765C>T, NP_001285.1:p.Arg589Cys, NP_001269105.1:p.Arg487Cys, NP_001269104.1:p.Arg575Cys

Select item 145034991720.

rs1450349917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44992676 (GRCh38)
19:45495934 (GRCh37)
Canonical SPDI:: NC_000019.10:44992675:G:A
Gene:: CLPTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44992676G>A, NC_000019.9:g.45495934G>A, NM_001294.4:c.1789G>A, NM_001294.3:c.1789G>A, NM_001294.2:c.1789G>A, NM_001282176.2:c.1483G>A, NM_001282176.1:c.1483G>A, NM_001282175.2:c.1747G>A, NM_001282175.1:c.1747G>A, NR_040007.1:n.1834G>A, NR_040006.1:n.1810G>A, NM_001199468.1:c.1789G>A, NP_001285.1:p.Glu597Lys, NP_001269105.1:p.Glu495Lys, NP_001269104.1:p.Glu583Lys

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