SNP Links for Protein (Select 308193328) - SNP

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Links from Protein

Items: 1 to 20 of 904

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Select item 14894498741.

rs1489449874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137200060 (GRCh38)
9:140094512 (GRCh37)
Canonical SPDI:: NC_000009.12:137200059:C:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137200060C>A, NC_000009.11:g.140094512C>A, NG_027801.2:g.9134G>T, NM_001128228.3:c.652G>T, NM_001128228.2:c.652G>T, NM_173691.3:c.469G>T, NM_173691.2:c.-266G>T, NM_173691.1:c.-266G>T, NP_001121700.2:p.Ala218Ser

Select item 14880995922.

rs1488099592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:137199300 (GRCh38)
9:140093752 (GRCh37)
Canonical SPDI:: NC_000009.12:137199299:T:G
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137199300T>G, NC_000009.11:g.140093752T>G, NG_027801.2:g.9894A>C, NM_001128228.3:c.1412A>C, NM_001128228.2:c.1412A>C, NM_173691.3:c.1229A>C, NM_173691.2:c.494A>C, NM_173691.1:c.494A>C, NP_001121700.2:p.Lys471Thr

Select item 14880582003.

rs1488058200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137200080 (GRCh38)
9:140094532 (GRCh37)
Canonical SPDI:: NC_000009.12:137200079:C:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000109/4 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137200080C>A, NC_000009.11:g.140094532C>A, NG_027801.2:g.9114G>T, NM_001128228.3:c.632G>T, NM_001128228.2:c.632G>T, NM_173691.3:c.449G>T, NM_173691.2:c.-286G>T, NM_173691.1:c.-286G>T, NP_001121700.2:p.Gly211Val

Select item 14877218174.

rs1487721817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:137192143 (GRCh38)
9:140086595 (GRCh37)
Canonical SPDI:: NC_000009.12:137192142:T:C
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137192143T>C, NC_000009.11:g.140086595T>C, NG_027801.2:g.17051A>G, NM_001128228.3:c.2105A>G, NM_001128228.2:c.2105A>G, NM_173691.3:c.2006A>G, NM_173691.2:c.1271A>G, NM_173691.1:c.1271A>G, NP_001121700.2:p.Asp702Gly

Select item 14870777245.

rs1487077724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137200671 (GRCh38)
9:140095123 (GRCh37)
Canonical SPDI:: NC_000009.12:137200670:G:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000038/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137200671G>A, NC_000009.11:g.140095123G>A, NG_027801.2:g.8523C>T, NM_001128228.3:c.41C>T, NM_001128228.2:c.41C>T, NP_001121700.2:p.Ala14Val

Select item 14853491846.

rs1485349184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:137199833 (GRCh38)
9:140094285 (GRCh37)
Canonical SPDI:: NC_000009.12:137199832:G:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137199833G>T, NC_000009.11:g.140094285G>T, NG_027801.2:g.9361C>A, NM_001128228.3:c.879C>A, NM_001128228.2:c.879C>A, NM_173691.3:c.696C>A, NM_173691.2:c.-39C>A, NM_173691.1:c.-39C>A

Select item 14852321247.

rs1485232124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137199580 (GRCh38)
9:140094032 (GRCh37)
Canonical SPDI:: NC_000009.12:137199579:C:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137199580C>T, NC_000009.11:g.140094032C>T, NG_027801.2:g.9614G>A, NM_001128228.3:c.1132G>A, NM_001128228.2:c.1132G>A, NM_173691.3:c.949G>A, NM_173691.2:c.214G>A, NM_173691.1:c.214G>A, NP_001121700.2:p.Ala378Thr

Select item 14849819448.

rs1484981944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137200232 (GRCh38)
9:140094684 (GRCh37)
Canonical SPDI:: NC_000009.12:137200231:C:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.137200232C>T, NC_000009.11:g.140094684C>T, NG_027801.2:g.8962G>A, NM_001128228.3:c.480G>A, NM_001128228.2:c.480G>A, NM_173691.3:c.297G>A

Select item 14828748359.

rs1482874835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137192268 (GRCh38)
9:140086720 (GRCh37)
Canonical SPDI:: NC_000009.12:137192267:C:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137192268C>T, NC_000009.11:g.140086720C>T, NG_027801.2:g.16926G>A, NM_001128228.3:c.2064G>A, NM_001128228.2:c.2064G>A, NM_173691.3:c.1881G>A, NM_173691.2:c.1146G>A, NM_173691.1:c.1146G>A

Select item 148242885810.

rs1482428858 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGG>- [Show Flanks]
Chromosome:: 9:137200238 (GRCh38)
9:140094690 (GRCh37)
Canonical SPDI:: NC_000009.12:137200235:GGCGGG:GG
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000009.12:g.137200238_137200241del, NC_000009.11:g.140094690_140094693del, NG_027801.2:g.8955_8958del, NM_001128228.3:c.473_476del, NM_001128228.2:c.473_476del, NM_173691.3:c.290_293del, NP_001121700.2:p.Pro158fs

Select item 147900935311.

rs1479009353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137199235 (GRCh38)
9:140093687 (GRCh37)
Canonical SPDI:: NC_000009.12:137199234:G:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137199235G>A, NC_000009.11:g.140093687G>A, NG_027801.2:g.9959C>T, NM_001128228.3:c.1477C>T, NM_001128228.2:c.1477C>T, NM_173691.3:c.1294C>T, NM_173691.2:c.559C>T, NM_173691.1:c.559C>T, NP_001121700.2:p.Leu493Phe

Select item 147869299812.

rs1478692998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:137200286 (GRCh38)
9:140094738 (GRCh37)
Canonical SPDI:: NC_000009.12:137200285:C:A,NC_000009.12:137200285:C:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000076/10 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.137200286C>A, NC_000009.12:g.137200286C>T, NC_000009.11:g.140094738C>A, NC_000009.11:g.140094738C>T, NG_027801.2:g.8908G>T, NG_027801.2:g.8908G>A, NM_001128228.3:c.426G>T, NM_001128228.3:c.426G>A, NM_001128228.2:c.426G>T, NM_001128228.2:c.426G>A, NM_173691.3:c.243G>T, NM_173691.3:c.243G>A

Select item 147862866113.

rs1478628661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137199720 (GRCh38)
9:140094172 (GRCh37)
Canonical SPDI:: NC_000009.12:137199719:A:G
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.137199720A>G, NC_000009.11:g.140094172A>G, NG_027801.2:g.9474T>C, NM_001128228.3:c.992T>C, NM_001128228.2:c.992T>C, NM_173691.3:c.809T>C, NM_173691.2:c.74T>C, NM_173691.1:c.74T>C, NP_001121700.2:p.Phe331Ser

Select item 147801721314.

rs1478017213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137199663 (GRCh38)
9:140094115 (GRCh37)
Canonical SPDI:: NC_000009.12:137199662:G:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137199663G>A, NC_000009.11:g.140094115G>A, NG_027801.2:g.9531C>T, NM_001128228.3:c.1049C>T, NM_001128228.2:c.1049C>T, NM_173691.3:c.866C>T, NM_173691.2:c.131C>T, NM_173691.1:c.131C>T, NP_001121700.2:p.Ser350Phe

Select item 147790258515.

rs1477902585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:137200549 (GRCh38)
9:140095001 (GRCh37)
Canonical SPDI:: NC_000009.12:137200548:G:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.137200549G>T, NC_000009.11:g.140095001G>T, NG_027801.2:g.8645C>A, NM_001128228.3:c.163C>A, NM_001128228.2:c.163C>A, NP_001121700.2:p.Pro55Thr

Select item 147666006916.

rs1476660069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:137200557 (GRCh38)
9:140095009 (GRCh37)
Canonical SPDI:: NC_000009.12:137200556:C:A,NC_000009.12:137200556:C:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137200557C>A, NC_000009.12:g.137200557C>T, NC_000009.11:g.140095009C>A, NC_000009.11:g.140095009C>T, NG_027801.2:g.8637G>T, NG_027801.2:g.8637G>A, NM_001128228.3:c.155G>T, NM_001128228.3:c.155G>A, NM_001128228.2:c.155G>T, NM_001128228.2:c.155G>A, NP_001121700.2:p.Ser52Ile, NP_001121700.2:p.Ser52Asn

Select item 147485620117.

rs1474856201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137200478 (GRCh38)
9:140094930 (GRCh37)
Canonical SPDI:: NC_000009.12:137200477:C:T
Gene:: TPRN (Varview)
Functional Consequence:: 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_000009.12:g.137200478C>T, NC_000009.11:g.140094930C>T, NG_027801.2:g.8716G>A, NM_001128228.3:c.234G>A, NM_001128228.2:c.234G>A, NM_173691.3:c.51G>A

Select item 147463609618.

rs1474636096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:137199715 (GRCh38)
9:140094167 (GRCh37)
Canonical SPDI:: NC_000009.12:137199714:C:G,NC_000009.12:137199714:C:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137199715C>G, NC_000009.12:g.137199715C>T, NC_000009.11:g.140094167C>G, NC_000009.11:g.140094167C>T, NG_027801.2:g.9479G>C, NG_027801.2:g.9479G>A, NM_001128228.3:c.997G>C, NM_001128228.3:c.997G>A, NM_001128228.2:c.997G>C, NM_001128228.2:c.997G>A, NM_173691.3:c.814G>C, NM_173691.3:c.814G>A, NM_173691.2:c.79G>C, NM_173691.2:c.79G>A, NM_173691.1:c.79G>C, NM_173691.1:c.79G>A, NP_001121700.2:p.Val333Leu, NP_001121700.2:p.Val333Ile

Select item 147437787219.

rs1474377872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:137199480 (GRCh38)
9:140093932 (GRCh37)
Canonical SPDI:: NC_000009.12:137199479:A:T
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137199480A>T, NC_000009.11:g.140093932A>T, NG_027801.2:g.9714T>A, NM_001128228.3:c.1232T>A, NM_001128228.2:c.1232T>A, NM_173691.3:c.1049T>A, NM_173691.2:c.314T>A, NM_173691.1:c.314T>A, NP_001121700.2:p.Ile411Asn

Select item 147436254420.

rs1474362544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137199655 (GRCh38)
9:140094107 (GRCh37)
Canonical SPDI:: NC_000009.12:137199654:G:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.137199655G>A, NC_000009.11:g.140094107G>A, NG_027801.2:g.9539C>T, NM_001128228.3:c.1057C>T, NM_001128228.2:c.1057C>T, NM_173691.3:c.874C>T, NM_173691.2:c.139C>T, NM_173691.1:c.139C>T

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