SNP Links for Protein (Select 56117832) - SNP

Select item 14858862291.

rs1485886229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49607292 (GRCh38)
17:47684654 (GRCh37)
Canonical SPDI:: NC_000017.11:49607291:G:A
Gene:: SPOP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49607292G>A, NC_000017.10:g.47684654G>A, NG_041815.1:g.75872C>T, NM_003563.3:c.795C>T, NM_001007228.2:c.795C>T, NM_001007228.1:c.795C>T, NM_001370730.1:c.795C>T, NM_001007226.1:c.795C>T, NM_001370731.1:c.795C>T, NM_001007230.1:c.795C>T, NM_001007227.1:c.795C>T, NM_001007229.1:c.795C>T, NM_001370732.1:c.795C>T, XM_024450995.2:c.795C>T, XM_024450995.1:c.795C>T

Select item 14849696752.

rs1484969675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49611452 (GRCh38)
17:47688814 (GRCh37)
Canonical SPDI:: NC_000017.11:49611451:A:G
Gene:: SPOP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49611452A>G, NC_000017.10:g.47688814A>G, NG_041815.1:g.71712T>C, NM_003563.3:c.486T>C, NM_001007228.2:c.486T>C, NM_001007228.1:c.486T>C, NM_001370730.1:c.486T>C, NM_001007226.1:c.486T>C, NM_001370731.1:c.486T>C, NM_001007230.1:c.486T>C, NM_001007227.1:c.486T>C, NM_001007229.1:c.486T>C, NM_001370732.1:c.486T>C, XM_024450995.2:c.486T>C, XM_024450995.1:c.486T>C

Select item 14845170503.

rs1484517050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:49607927 (GRCh38)
17:47685289 (GRCh37)
Canonical SPDI:: NC_000017.11:49607926:G:A,NC_000017.11:49607926:G:C
Gene:: SPOP (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)
HGVS:: NC_000017.11:g.49607927G>A, NC_000017.11:g.49607927G>C, NC_000017.10:g.47685289G>A, NC_000017.10:g.47685289G>C, NG_041815.1:g.75237C>T, NG_041815.1:g.75237C>G, NM_003563.3:c.661C>T, NM_003563.3:c.661C>G, NM_001007228.2:c.661C>T, NM_001007228.2:c.661C>G, NM_001007228.1:c.661C>T, NM_001007228.1:c.661C>G, NM_001370730.1:c.661C>T, NM_001370730.1:c.661C>G, NM_001007226.1:c.661C>T, NM_001007226.1:c.661C>G, NM_001370731.1:c.661C>T, NM_001370731.1:c.661C>G, NM_001007230.1:c.661C>T, NM_001007230.1:c.661C>G, NM_001007227.1:c.661C>T, NM_001007227.1:c.661C>G, NM_001007229.1:c.661C>T, NM_001007229.1:c.661C>G, NM_001370732.1:c.661C>T, NM_001370732.1:c.661C>G, XM_024450995.2:c.661C>T, XM_024450995.2:c.661C>G, XM_024450995.1:c.661C>T, XM_024450995.1:c.661C>G, NP_003554.1:p.Arg221Cys, NP_003554.1:p.Arg221Gly, NP_001007229.1:p.Arg221Cys, NP_001007229.1:p.Arg221Gly, NP_001357659.1:p.Arg221Cys, NP_001357659.1:p.Arg221Gly, NP_001007227.1:p.Arg221Cys, NP_001007227.1:p.Arg221Gly, NP_001357660.1:p.Arg221Cys, NP_001357660.1:p.Arg221Gly, NP_001007231.1:p.Arg221Cys, NP_001007231.1:p.Arg221Gly, NP_001007228.1:p.Arg221Cys, NP_001007228.1:p.Arg221Gly, NP_001007230.1:p.Arg221Cys, NP_001007230.1:p.Arg221Gly, NP_001357661.1:p.Arg221Cys, NP_001357661.1:p.Arg221Gly, XP_024306763.1:p.Arg221Cys, XP_024306763.1:p.Arg221Gly

Select item 14777072384.

rs1477707238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:49601967 (GRCh38)
17:47679329 (GRCh37)
Canonical SPDI:: NC_000017.11:49601966:A:T
Gene:: SPOP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49601967A>T, NC_000017.10:g.47679329A>T, NG_041815.1:g.81197T>A, NM_003563.3:c.878T>A, NM_001007228.2:c.878T>A, NM_001007228.1:c.878T>A, NM_001370730.1:c.878T>A, NM_001007226.1:c.878T>A, NM_001370731.1:c.878T>A, NM_001007230.1:c.878T>A, NM_001007227.1:c.878T>A, NM_001007229.1:c.878T>A, NM_001370732.1:c.878T>A, XM_024450995.2:c.878T>A, XM_024450995.1:c.878T>A, NP_003554.1:p.Leu293His, NP_001007229.1:p.Leu293His, NP_001357659.1:p.Leu293His, NP_001007227.1:p.Leu293His, NP_001357660.1:p.Leu293His, NP_001007231.1:p.Leu293His, NP_001007228.1:p.Leu293His, NP_001007230.1:p.Leu293His, NP_001357661.1:p.Leu293His, XP_024306763.1:p.Leu293His

Select item 14762948465.

rs1476294846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49611387 (GRCh38)
17:47688749 (GRCh37)
Canonical SPDI:: NC_000017.11:49611386:C:T
Gene:: SPOP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.49611387C>T, NC_000017.10:g.47688749C>T, NG_041815.1:g.71777G>A, NM_003563.3:c.551G>A, NM_001007228.2:c.551G>A, NM_001007228.1:c.551G>A, NM_001370730.1:c.551G>A, NM_001007226.1:c.551G>A, NM_001370731.1:c.551G>A, NM_001007230.1:c.551G>A, NM_001007227.1:c.551G>A, NM_001007229.1:c.551G>A, NM_001370732.1:c.551G>A, XM_024450995.2:c.551G>A, XM_024450995.1:c.551G>A, NP_003554.1:p.Cys184Tyr, NP_001007229.1:p.Cys184Tyr, NP_001357659.1:p.Cys184Tyr, NP_001007227.1:p.Cys184Tyr, NP_001357660.1:p.Cys184Tyr, NP_001007231.1:p.Cys184Tyr, NP_001007228.1:p.Cys184Tyr, NP_001007230.1:p.Cys184Tyr, NP_001357661.1:p.Cys184Tyr, XP_024306763.1:p.Cys184Tyr

Select item 14759400026.

rs1475940002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49611325 (GRCh38)
17:47688687 (GRCh37)
Canonical SPDI:: NC_000017.11:49611324:A:G
Gene:: SPOP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.49611325A>G, NC_000017.10:g.47688687A>G, NG_041815.1:g.71839T>C, NM_003563.3:c.613T>C, NM_001007228.2:c.613T>C, NM_001007228.1:c.613T>C, NM_001370730.1:c.613T>C, NM_001007226.1:c.613T>C, NM_001370731.1:c.613T>C, NM_001007230.1:c.613T>C, NM_001007227.1:c.613T>C, NM_001007229.1:c.613T>C, NM_001370732.1:c.613T>C, XM_024450995.2:c.613T>C, XM_024450995.1:c.613T>C, NP_003554.1:p.Cys205Arg, NP_001007229.1:p.Cys205Arg, NP_001357659.1:p.Cys205Arg, NP_001007227.1:p.Cys205Arg, NP_001357660.1:p.Cys205Arg, NP_001007231.1:p.Cys205Arg, NP_001007228.1:p.Cys205Arg, NP_001007230.1:p.Cys205Arg, NP_001357661.1:p.Cys205Arg, XP_024306763.1:p.Cys205Arg

Select item 14667180937.

rs1466718093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:49601884 (GRCh38)
17:47679246 (GRCh37)
Canonical SPDI:: NC_000017.11:49601883:C:A,NC_000017.11:49601883:C:T
Gene:: SPOP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49601884C>A, NC_000017.11:g.49601884C>T, NC_000017.10:g.47679246C>A, NC_000017.10:g.47679246C>T, NG_041815.1:g.81280G>T, NG_041815.1:g.81280G>A, NM_003563.3:c.961G>T, NM_003563.3:c.961G>A, NM_001007228.2:c.961G>T, NM_001007228.2:c.961G>A, NM_001007228.1:c.961G>T, NM_001007228.1:c.961G>A, NM_001370730.1:c.961G>T, NM_001370730.1:c.961G>A, NM_001007226.1:c.961G>T, NM_001007226.1:c.961G>A, NM_001370731.1:c.961G>T, NM_001370731.1:c.961G>A, NM_001007230.1:c.961G>T, NM_001007230.1:c.961G>A, NM_001007227.1:c.961G>T, NM_001007227.1:c.961G>A, NM_001007229.1:c.961G>T, NM_001007229.1:c.961G>A, NM_001370732.1:c.961G>T, NM_001370732.1:c.961G>A, XM_024450995.2:c.961G>T, XM_024450995.2:c.961G>A, XM_024450995.1:c.961G>T, XM_024450995.1:c.961G>A, NP_003554.1:p.Ala321Ser, NP_003554.1:p.Ala321Thr, NP_001007229.1:p.Ala321Ser, NP_001007229.1:p.Ala321Thr, NP_001357659.1:p.Ala321Ser, NP_001357659.1:p.Ala321Thr, NP_001007227.1:p.Ala321Ser, NP_001007227.1:p.Ala321Thr, NP_001357660.1:p.Ala321Ser, NP_001357660.1:p.Ala321Thr, NP_001007231.1:p.Ala321Ser, NP_001007231.1:p.Ala321Thr, NP_001007228.1:p.Ala321Ser, NP_001007228.1:p.Ala321Thr, NP_001007230.1:p.Ala321Ser, NP_001007230.1:p.Ala321Thr, NP_001357661.1:p.Ala321Ser, NP_001357661.1:p.Ala321Thr, XP_024306763.1:p.Ala321Ser, XP_024306763.1:p.Ala321Thr

Select item 14640213878.

rs1464021387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:49619077 (GRCh38)
17:47696439 (GRCh37)
Canonical SPDI:: NC_000017.11:49619076:G:A,NC_000017.11:49619076:G:C,NC_000017.11:49619076:G:T
Gene:: SPOP (Varview), LOC107984999 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49619077G>A, NC_000017.11:g.49619077G>C, NC_000017.11:g.49619077G>T, NC_000017.10:g.47696439G>A, NC_000017.10:g.47696439G>C, NC_000017.10:g.47696439G>T, NG_041815.1:g.64087C>T, NG_041815.1:g.64087C>G, NG_041815.1:g.64087C>A, NM_003563.3:c.384C>T, NM_003563.3:c.384C>G, NM_003563.3:c.384C>A, NM_001007228.2:c.384C>T, NM_001007228.2:c.384C>G, NM_001007228.2:c.384C>A, NM_001007228.1:c.384C>T, NM_001007228.1:c.384C>G, NM_001007228.1:c.384C>A, NM_001370730.1:c.384C>T, NM_001370730.1:c.384C>G, NM_001370730.1:c.384C>A, NM_001007226.1:c.384C>T, NM_001007226.1:c.384C>G, NM_001007226.1:c.384C>A, NM_001370731.1:c.384C>T, NM_001370731.1:c.384C>G, NM_001370731.1:c.384C>A, NM_001007230.1:c.384C>T, NM_001007230.1:c.384C>G, NM_001007230.1:c.384C>A, NM_001007227.1:c.384C>T, NM_001007227.1:c.384C>G, NM_001007227.1:c.384C>A, NM_001007229.1:c.384C>T, NM_001007229.1:c.384C>G, NM_001007229.1:c.384C>A, NM_001370732.1:c.384C>T, NM_001370732.1:c.384C>G, NM_001370732.1:c.384C>A, XM_024450995.2:c.384C>T, XM_024450995.2:c.384C>G, XM_024450995.2:c.384C>A, XM_024450995.1:c.384C>T, XM_024450995.1:c.384C>G, XM_024450995.1:c.384C>A

Select item 14609281819.

rs1460928181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49601956 (GRCh38)
17:47679318 (GRCh37)
Canonical SPDI:: NC_000017.11:49601955:G:A
Gene:: SPOP (Varview)
Functional Consequence:: synonymous_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_000017.11:g.49601956G>A, NC_000017.10:g.47679318G>A, NG_041815.1:g.81208C>T, NM_003563.3:c.889C>T, NM_001007228.2:c.889C>T, NM_001007228.1:c.889C>T, NM_001370730.1:c.889C>T, NM_001007226.1:c.889C>T, NM_001370731.1:c.889C>T, NM_001007230.1:c.889C>T, NM_001007227.1:c.889C>T, NM_001007229.1:c.889C>T, NM_001370732.1:c.889C>T, XM_024450995.2:c.889C>T, XM_024450995.1:c.889C>T

Select item 144597201010.

rs1445972010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49600483 (GRCh38)
17:47677845 (GRCh37)
Canonical SPDI:: NC_000017.11:49600482:T:C
Gene:: SPOP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49600483T>C, NC_000017.10:g.47677845T>C, NG_041815.1:g.82681A>G, NM_003563.3:c.1020A>G, NM_001007228.2:c.1020A>G, NM_001007228.1:c.1020A>G, NM_001370730.1:c.1020A>G, NM_001007226.1:c.1020A>G, NM_001370731.1:c.1020A>G, NM_001007230.1:c.1020A>G, NM_001007227.1:c.1020A>G, NM_001007229.1:c.1020A>G, NM_001370732.1:c.1020A>G, XM_024450995.2:c.1020A>G, XM_024450995.1:c.1020A>G

Select item 144268575511.

rs1442685755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49607886 (GRCh38)
17:47685248 (GRCh37)
Canonical SPDI:: NC_000017.11:49607885:C:T
Gene:: SPOP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.49607886C>T, NC_000017.10:g.47685248C>T, NG_041815.1:g.75278G>A, NM_003563.3:c.702G>A, NM_001007228.2:c.702G>A, NM_001007228.1:c.702G>A, NM_001370730.1:c.702G>A, NM_001007226.1:c.702G>A, NM_001370731.1:c.702G>A, NM_001007230.1:c.702G>A, NM_001007227.1:c.702G>A, NM_001007229.1:c.702G>A, NM_001370732.1:c.702G>A, XM_024450995.2:c.702G>A, XM_024450995.1:c.702G>A

Select item 144192267412.

rs1441922674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:49619011 (GRCh38)
17:47696373 (GRCh37)
Canonical SPDI:: NC_000017.11:49619010:G:A,NC_000017.11:49619010:G:C
Gene:: SPOP (Varview), LOC107984999 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49619011G>A, NC_000017.11:g.49619011G>C, NC_000017.10:g.47696373G>A, NC_000017.10:g.47696373G>C, NG_041815.1:g.64153C>T, NG_041815.1:g.64153C>G, NM_003563.3:c.450C>T, NM_003563.3:c.450C>G, NM_001007228.2:c.450C>T, NM_001007228.2:c.450C>G, NM_001007228.1:c.450C>T, NM_001007228.1:c.450C>G, NM_001370730.1:c.450C>T, NM_001370730.1:c.450C>G, NM_001007226.1:c.450C>T, NM_001007226.1:c.450C>G, NM_001370731.1:c.450C>T, NM_001370731.1:c.450C>G, NM_001007230.1:c.450C>T, NM_001007230.1:c.450C>G, NM_001007227.1:c.450C>T, NM_001007227.1:c.450C>G, NM_001007229.1:c.450C>T, NM_001007229.1:c.450C>G, NM_001370732.1:c.450C>T, NM_001370732.1:c.450C>G, XM_024450995.2:c.450C>T, XM_024450995.2:c.450C>G, XM_024450995.1:c.450C>T, XM_024450995.1:c.450C>G

Select item 143858224113.

rs1438582241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49611299 (GRCh38)
17:47688661 (GRCh37)
Canonical SPDI:: NC_000017.11:49611298:A:G
Gene:: SPOP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49611299A>G, NC_000017.10:g.47688661A>G, NG_041815.1:g.71865T>C, NM_003563.3:c.639T>C, NM_001007228.2:c.639T>C, NM_001007228.1:c.639T>C, NM_001370730.1:c.639T>C, NM_001007226.1:c.639T>C, NM_001370731.1:c.639T>C, NM_001007230.1:c.639T>C, NM_001007227.1:c.639T>C, NM_001007229.1:c.639T>C, NM_001370732.1:c.639T>C, XM_024450995.2:c.639T>C, XM_024450995.1:c.639T>C

Select item 143849585214.

rs1438495852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:49600442 (GRCh38)
17:47677804 (GRCh37)
Canonical SPDI:: NC_000017.11:49600441:C:A,NC_000017.11:49600441:C:T
Gene:: SPOP (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.49600442C>A, NC_000017.11:g.49600442C>T, NC_000017.10:g.47677804C>A, NC_000017.10:g.47677804C>T, NG_041815.1:g.82722G>T, NG_041815.1:g.82722G>A, NM_003563.3:c.1061G>T, NM_003563.3:c.1061G>A, NM_001007228.2:c.1061G>T, NM_001007228.2:c.1061G>A, NM_001007228.1:c.1061G>T, NM_001007228.1:c.1061G>A, NM_001370730.1:c.1061G>T, NM_001370730.1:c.1061G>A, NM_001007226.1:c.1061G>T, NM_001007226.1:c.1061G>A, NM_001370731.1:c.1061G>T, NM_001370731.1:c.1061G>A, NM_001007230.1:c.1061G>T, NM_001007230.1:c.1061G>A, NM_001007227.1:c.1061G>T, NM_001007227.1:c.1061G>A, NM_001007229.1:c.1061G>T, NM_001007229.1:c.1061G>A, NM_001370732.1:c.1061G>T, NM_001370732.1:c.1061G>A, XM_024450995.2:c.1061G>T, XM_024450995.2:c.1061G>A, XM_024450995.1:c.1061G>T, XM_024450995.1:c.1061G>A, NP_003554.1:p.Arg354Leu, NP_003554.1:p.Arg354His, NP_001007229.1:p.Arg354Leu, NP_001007229.1:p.Arg354His, NP_001357659.1:p.Arg354Leu, NP_001357659.1:p.Arg354His, NP_001007227.1:p.Arg354Leu, NP_001007227.1:p.Arg354His, NP_001357660.1:p.Arg354Leu, NP_001357660.1:p.Arg354His, NP_001007231.1:p.Arg354Leu, NP_001007231.1:p.Arg354His, NP_001007228.1:p.Arg354Leu, NP_001007228.1:p.Arg354His, NP_001007230.1:p.Arg354Leu, NP_001007230.1:p.Arg354His, NP_001357661.1:p.Arg354Leu, NP_001357661.1:p.Arg354His, XP_024306763.1:p.Arg354Leu, XP_024306763.1:p.Arg354His

Select item 143766718415.

rs1437667184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49611432 (GRCh38)
17:47688794 (GRCh37)
Canonical SPDI:: NC_000017.11:49611431:T:C
Gene:: SPOP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49611432T>C, NC_000017.10:g.47688794T>C, NG_041815.1:g.71732A>G, NM_003563.3:c.506A>G, NM_001007228.2:c.506A>G, NM_001007228.1:c.506A>G, NM_001370730.1:c.506A>G, NM_001007226.1:c.506A>G, NM_001370731.1:c.506A>G, NM_001007230.1:c.506A>G, NM_001007227.1:c.506A>G, NM_001007229.1:c.506A>G, NM_001370732.1:c.506A>G, XM_024450995.2:c.506A>G, XM_024450995.1:c.506A>G, NP_003554.1:p.Asn169Ser, NP_001007229.1:p.Asn169Ser, NP_001357659.1:p.Asn169Ser, NP_001007227.1:p.Asn169Ser, NP_001357660.1:p.Asn169Ser, NP_001007231.1:p.Asn169Ser, NP_001007228.1:p.Asn169Ser, NP_001007230.1:p.Asn169Ser, NP_001357661.1:p.Asn169Ser, XP_024306763.1:p.Asn169Ser

Select item 143691831216.

rs1436918312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49622032 (GRCh38)
17:47699394 (GRCh37)
Canonical SPDI:: NC_000017.11:49622031:G:A
Gene:: SPOP (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=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49622032G>A, NC_000017.10:g.47699394G>A, NG_041815.1:g.61132C>T, NM_003563.3:c.114C>T, NM_001007228.2:c.114C>T, NM_001007228.1:c.114C>T, NM_001370730.1:c.114C>T, NM_001007226.1:c.114C>T, NM_001370731.1:c.114C>T, NM_001007230.1:c.114C>T, NM_001007227.1:c.114C>T, NM_001007229.1:c.114C>T, NM_001370732.1:c.114C>T, XM_024450995.2:c.114C>T, XM_024450995.1:c.114C>T

Select item 142980545917.

rs1429805459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49601896 (GRCh38)
17:47679258 (GRCh37)
Canonical SPDI:: NC_000017.11:49601895:A:G
Gene:: SPOP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49601896A>G, NC_000017.10:g.47679258A>G, NG_041815.1:g.81268T>C, NM_003563.3:c.949T>C, NM_001007228.2:c.949T>C, NM_001007228.1:c.949T>C, NM_001370730.1:c.949T>C, NM_001007226.1:c.949T>C, NM_001370731.1:c.949T>C, NM_001007230.1:c.949T>C, NM_001007227.1:c.949T>C, NM_001007229.1:c.949T>C, NM_001370732.1:c.949T>C, XM_024450995.2:c.949T>C, XM_024450995.1:c.949T>C

Select item 142812734518.

rs1428127345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49607881 (GRCh38)
17:47685243 (GRCh37)
Canonical SPDI:: NC_000017.11:49607880:C:T
Gene:: SPOP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.49607881C>T, NC_000017.10:g.47685243C>T, NG_041815.1:g.75283G>A, NM_003563.3:c.707G>A, NM_001007228.2:c.707G>A, NM_001007228.1:c.707G>A, NM_001370730.1:c.707G>A, NM_001007226.1:c.707G>A, NM_001370731.1:c.707G>A, NM_001007230.1:c.707G>A, NM_001007227.1:c.707G>A, NM_001007229.1:c.707G>A, NM_001370732.1:c.707G>A, XM_024450995.2:c.707G>A, XM_024450995.1:c.707G>A, NP_003554.1:p.Ser236Asn, NP_001007229.1:p.Ser236Asn, NP_001357659.1:p.Ser236Asn, NP_001007227.1:p.Ser236Asn, NP_001357660.1:p.Ser236Asn, NP_001007231.1:p.Ser236Asn, NP_001007228.1:p.Ser236Asn, NP_001007230.1:p.Ser236Asn, NP_001357661.1:p.Ser236Asn, XP_024306763.1:p.Ser236Asn

Select item 142063375219.

rs1420633752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:49611324 (GRCh38)
17:47688686 (GRCh37)
Canonical SPDI:: NC_000017.11:49611323:C:A,NC_000017.11:49611323:C:T
Gene:: SPOP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.49611324C>A, NC_000017.11:g.49611324C>T, NC_000017.10:g.47688686C>A, NC_000017.10:g.47688686C>T, NG_041815.1:g.71840G>T, NG_041815.1:g.71840G>A, NM_003563.3:c.614G>T, NM_003563.3:c.614G>A, NM_001007228.2:c.614G>T, NM_001007228.2:c.614G>A, NM_001007228.1:c.614G>T, NM_001007228.1:c.614G>A, NM_001370730.1:c.614G>T, NM_001370730.1:c.614G>A, NM_001007226.1:c.614G>T, NM_001007226.1:c.614G>A, NM_001370731.1:c.614G>T, NM_001370731.1:c.614G>A, NM_001007230.1:c.614G>T, NM_001007230.1:c.614G>A, NM_001007227.1:c.614G>T, NM_001007227.1:c.614G>A, NM_001007229.1:c.614G>T, NM_001007229.1:c.614G>A, NM_001370732.1:c.614G>T, NM_001370732.1:c.614G>A, XM_024450995.2:c.614G>T, XM_024450995.2:c.614G>A, XM_024450995.1:c.614G>T, XM_024450995.1:c.614G>A, NP_003554.1:p.Cys205Phe, NP_003554.1:p.Cys205Tyr, NP_001007229.1:p.Cys205Phe, NP_001007229.1:p.Cys205Tyr, NP_001357659.1:p.Cys205Phe, NP_001357659.1:p.Cys205Tyr, NP_001007227.1:p.Cys205Phe, NP_001007227.1:p.Cys205Tyr, NP_001357660.1:p.Cys205Phe, NP_001357660.1:p.Cys205Tyr, NP_001007231.1:p.Cys205Phe, NP_001007231.1:p.Cys205Tyr, NP_001007228.1:p.Cys205Phe, NP_001007228.1:p.Cys205Tyr, NP_001007230.1:p.Cys205Phe, NP_001007230.1:p.Cys205Tyr, NP_001357661.1:p.Cys205Phe, NP_001357661.1:p.Cys205Tyr, XP_024306763.1:p.Cys205Phe, XP_024306763.1:p.Cys205Tyr

Select item 141258212420.

rs1412582124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:49622770 (GRCh38)
17:47700132 (GRCh37)
Canonical SPDI:: NC_000017.11:49622769:G:A,NC_000017.11:49622769:G:C
Gene:: SPOP (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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.49622770G>A, NC_000017.11:g.49622770G>C, NC_000017.10:g.47700132G>A, NC_000017.10:g.47700132G>C, NG_041815.1:g.60394C>T, NG_041815.1:g.60394C>G, NM_003563.3:c.41C>T, NM_003563.3:c.41C>G, NM_001007228.2:c.41C>T, NM_001007228.2:c.41C>G, NM_001007228.1:c.41C>T, NM_001007228.1:c.41C>G, NM_001370730.1:c.41C>T, NM_001370730.1:c.41C>G, NM_001007226.1:c.41C>T, NM_001007226.1:c.41C>G, NM_001370731.1:c.41C>T, NM_001370731.1:c.41C>G, NM_001007230.1:c.41C>T, NM_001007230.1:c.41C>G, NM_001007227.1:c.41C>T, NM_001007227.1:c.41C>G, NM_001007229.1:c.41C>T, NM_001007229.1:c.41C>G, NM_001370732.1:c.41C>T, NM_001370732.1:c.41C>G, XM_024450995.2:c.41C>T, XM_024450995.2:c.41C>G, XM_024450995.1:c.41C>T, XM_024450995.1:c.41C>G, NP_003554.1:p.Ser14Leu, NP_003554.1:p.Ser14Trp, NP_001007229.1:p.Ser14Leu, NP_001007229.1:p.Ser14Trp, NP_001357659.1:p.Ser14Leu, NP_001357659.1:p.Ser14Trp, NP_001007227.1:p.Ser14Leu, NP_001007227.1:p.Ser14Trp, NP_001357660.1:p.Ser14Leu, NP_001357660.1:p.Ser14Trp, NP_001007231.1:p.Ser14Leu, NP_001007231.1:p.Ser14Trp, NP_001007228.1:p.Ser14Leu, NP_001007228.1:p.Ser14Trp, NP_001007230.1:p.Ser14Leu, NP_001007230.1:p.Ser14Trp, NP_001357661.1:p.Ser14Leu, NP_001357661.1:p.Ser14Trp, XP_024306763.1:p.Ser14Leu, XP_024306763.1:p.Ser14Trp

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Clinical Significance

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Items: 1 to 20 of 199

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