SNP Links for Protein (Select 5453844) - SNP

Links from Protein

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Select item 14892019391.

rs1489201939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62775917 (GRCh38)
11:62543389 (GRCh37)
Canonical SPDI:: NC_000011.10:62775916:G:A
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62775917G>A, NC_000011.9:g.62543389G>A, NM_006473.4:c.134G>A, NM_006473.3:c.134G>A, XM_005273714.3:c.134G>A, XM_005273714.2:c.134G>A, XM_005273714.1:c.134G>A, NP_006464.1:p.Arg45Lys, XP_005273771.1:p.Arg45Lys

Select item 14890712592.

rs1489071259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62787226 (GRCh38)
11:62554698 (GRCh37)
Canonical SPDI:: NC_000011.10:62787225:T:C
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62787226T>C, NC_000011.9:g.62554698T>C, NM_006473.4:c.1799T>C, NM_006473.3:c.1799T>C, XM_005273714.3:c.1772T>C, XM_005273714.2:c.1772T>C, XM_005273714.1:c.1772T>C, XM_017017100.3:c.1166T>C, XM_017017100.2:c.1166T>C, XM_017017100.1:c.1166T>C, NM_018336.1:c.-215A>G, NP_006464.1:p.Met600Thr, XP_005273771.1:p.Met591Thr, XP_016872589.1:p.Met389Thr

Select item 14859022283.

rs1485902228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:62778948 (GRCh38)
11:62546420 (GRCh37)
Canonical SPDI:: NC_000011.10:62778947:T:A
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.62778948T>A, NC_000011.9:g.62546420T>A, NM_006473.4:c.516T>A, NM_006473.3:c.516T>A, XM_005273714.3:c.489T>A, XM_005273714.2:c.489T>A, XM_005273714.1:c.489T>A, NP_006464.1:p.Asp172Glu, XP_005273771.1:p.Asp163Glu

Select item 14788740414.

rs1478874041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62778312 (GRCh38)
11:62545784 (GRCh37)
Canonical SPDI:: NC_000011.10:62778311:G:A
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.62778312G>A, NC_000011.9:g.62545784G>A, NM_006473.4:c.413G>A, NM_006473.3:c.413G>A, XM_005273714.3:c.413G>A, XM_005273714.2:c.413G>A, XM_005273714.1:c.413G>A, NP_006464.1:p.Gly138Glu, XP_005273771.1:p.Gly138Glu

Select item 14785974635.

rs1478597463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:62782155 (GRCh38)
11:62549627 (GRCh37)
Canonical SPDI:: NC_000011.10:62782154:C:G,NC_000011.10:62782154:C:T
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.62782155C>G, NC_000011.10:g.62782155C>T, NC_000011.9:g.62549627C>G, NC_000011.9:g.62549627C>T, NM_006473.4:c.649C>G, NM_006473.4:c.649C>T, NM_006473.3:c.649C>G, NM_006473.3:c.649C>T, XM_005273714.3:c.622C>G, XM_005273714.3:c.622C>T, XM_005273714.2:c.622C>G, XM_005273714.2:c.622C>T, XM_005273714.1:c.622C>G, XM_005273714.1:c.622C>T, NP_006464.1:p.Leu217Val, XP_005273771.1:p.Leu208Val

Select item 14776759936.

rs1477675993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:62786967 (GRCh38)
11:62554439 (GRCh37)
Canonical SPDI:: NC_000011.10:62786966:T:A
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.62786967T>A, NC_000011.9:g.62554439T>A, NM_006473.4:c.1540T>A, NM_006473.3:c.1540T>A, XM_005273714.3:c.1513T>A, XM_005273714.2:c.1513T>A, XM_005273714.1:c.1513T>A, XM_017017100.3:c.907T>A, XM_017017100.2:c.907T>A, XM_017017100.1:c.907T>A, NM_018336.1:c.45A>T, NP_006464.1:p.Ser514Thr, XP_005273771.1:p.Ser505Thr, XP_016872589.1:p.Ser303Thr

Select item 14769481857.

rs1476948185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62787247 (GRCh38)
11:62554719 (GRCh37)
Canonical SPDI:: NC_000011.10:62787246:C:T
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62787247C>T, NC_000011.9:g.62554719C>T, NM_006473.4:c.1820C>T, NM_006473.3:c.1820C>T, XM_005273714.3:c.1793C>T, XM_005273714.2:c.1793C>T, XM_005273714.1:c.1793C>T, XM_017017100.3:c.1187C>T, XM_017017100.2:c.1187C>T, XM_017017100.1:c.1187C>T, NM_018336.1:c.-236G>A, NP_006464.1:p.Pro607Leu, XP_005273771.1:p.Pro598Leu, XP_016872589.1:p.Pro396Leu

Select item 14766571358.

rs1476657135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:62786912 (GRCh38)
11:62554384 (GRCh37)
Canonical SPDI:: NC_000011.10:62786911:C:A
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62786912C>A, NC_000011.9:g.62554384C>A, NM_006473.4:c.1485C>A, NM_006473.3:c.1485C>A, XM_005273714.3:c.1458C>A, XM_005273714.2:c.1458C>A, XM_005273714.1:c.1458C>A, XM_017017100.3:c.852C>A, XM_017017100.2:c.852C>A, XM_017017100.1:c.852C>A, NM_018336.1:c.100G>T, NP_006464.1:p.Ser495Arg, XP_005273771.1:p.Ser486Arg, XP_016872589.1:p.Ser284Arg

Select item 14754396939.

rs1475439693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62787238 (GRCh38)
11:62554710 (GRCh37)
Canonical SPDI:: NC_000011.10:62787237:C:G
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62787238C>G, NC_000011.9:g.62554710C>G, NM_006473.4:c.1811C>G, NM_006473.3:c.1811C>G, XM_005273714.3:c.1784C>G, XM_005273714.2:c.1784C>G, XM_005273714.1:c.1784C>G, XM_017017100.3:c.1178C>G, XM_017017100.2:c.1178C>G, XM_017017100.1:c.1178C>G, NM_018336.1:c.-227G>C, NP_006464.1:p.Thr604Ser, XP_005273771.1:p.Thr595Ser, XP_016872589.1:p.Thr393Ser

Select item 147442044510.

rs1474420445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62778315 (GRCh38)
11:62545787 (GRCh37)
Canonical SPDI:: NC_000011.10:62778314:A:G
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62778315A>G, NC_000011.9:g.62545787A>G, NM_006473.4:c.416A>G, NM_006473.3:c.416A>G, XM_005273714.3:c.416A>G, XM_005273714.2:c.416A>G, XM_005273714.1:c.416A>G, NP_006464.1:p.Asn139Ser, XP_005273771.1:p.Asn139Ser

Select item 147204331411.

rs1472043314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62787032 (GRCh38)
11:62554504 (GRCh37)
Canonical SPDI:: NC_000011.10:62787031:G:A
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.62787032G>A, NC_000011.9:g.62554504G>A, NM_006473.4:c.1605G>A, NM_006473.3:c.1605G>A, XM_005273714.3:c.1578G>A, XM_005273714.2:c.1578G>A, XM_005273714.1:c.1578G>A, XM_017017100.3:c.972G>A, XM_017017100.2:c.972G>A, XM_017017100.1:c.972G>A, NM_018336.1:c.-21C>T

Select item 146931319812.

rs1469313198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:62786555 (GRCh38)
11:62554027 (GRCh37)
Canonical SPDI:: NC_000011.10:62786554:A:C,NC_000011.10:62786554:A:G
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_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_000011.10:g.62786555A>C, NC_000011.10:g.62786555A>G, NC_000011.9:g.62554027A>C, NC_000011.9:g.62554027A>G, NM_006473.4:c.1128A>C, NM_006473.4:c.1128A>G, NM_006473.3:c.1128A>C, NM_006473.3:c.1128A>G, XM_005273714.3:c.1101A>C, XM_005273714.3:c.1101A>G, XM_005273714.2:c.1101A>C, XM_005273714.2:c.1101A>G, XM_005273714.1:c.1101A>C, XM_005273714.1:c.1101A>G, XM_017017100.3:c.495A>C, XM_017017100.3:c.495A>G, XM_017017100.2:c.495A>C, XM_017017100.2:c.495A>G, XM_017017100.1:c.495A>C, XM_017017100.1:c.495A>G, NM_018336.1:c.457T>G, NM_018336.1:c.457T>C

Select item 146923993613.

rs1469239936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62786613 (GRCh38)
11:62554085 (GRCh37)
Canonical SPDI:: NC_000011.10:62786612:C:T
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.62786613C>T, NC_000011.9:g.62554085C>T, NM_006473.4:c.1186C>T, NM_006473.3:c.1186C>T, XM_005273714.3:c.1159C>T, XM_005273714.2:c.1159C>T, XM_005273714.1:c.1159C>T, XM_017017100.3:c.553C>T, XM_017017100.2:c.553C>T, XM_017017100.1:c.553C>T, NM_018336.1:c.399G>A, NP_006464.1:p.Pro396Ser, XP_005273771.1:p.Pro387Ser, XP_016872589.1:p.Pro185Ser

Select item 146862511314.

rs1468625113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:62786784 (GRCh38)
11:62554256 (GRCh37)
Canonical SPDI:: NC_000011.10:62786783:G:T
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62786784G>T, NC_000011.9:g.62554256G>T, NM_006473.4:c.1357G>T, NM_006473.3:c.1357G>T, XM_005273714.3:c.1330G>T, XM_005273714.2:c.1330G>T, XM_005273714.1:c.1330G>T, XM_017017100.3:c.724G>T, XM_017017100.2:c.724G>T, XM_017017100.1:c.724G>T, NM_018336.1:c.228C>A, NP_006464.1:p.Ala453Ser, XP_005273771.1:p.Ala444Ser, XP_016872589.1:p.Ala242Ser

Select item 146784986815.

rs1467849868 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACTTGCCG [Show Flanks]
Chromosome:: 11:62787280 (GRCh38)
11:62554753 (GRCh37)
Canonical SPDI:: NC_000011.10:62787280:GTACTTGCCG:GTACTTGCCGTACTTGCCG
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: inframe_insertion,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTACTTGCCGTACTTGCCG=0.000094/1 (ALFA)
GTACTTGCC=0.000019/5 (TOPMED)
GTACTTGCC=0.000026/5 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62787282_62787290dup, NC_000011.9:g.62554754_62554762dup, NM_006473.4:c.1855_1863dup, NM_006473.3:c.1855_1863dup, XM_005273714.3:c.1828_1836dup, XM_005273714.2:c.1828_1836dup, XM_005273714.1:c.1828_1836dup, XM_017017100.3:c.1222_1230dup, XM_017017100.2:c.1222_1230dup, XM_017017100.1:c.1222_1230dup, NM_018336.1:c.-278_-270dup, NP_006464.1:p.Tyr619_Pro621dup, XP_005273771.1:p.Tyr610_Pro612dup, XP_016872589.1:p.Tyr408_Pro410dup

Select item 146643487816.

rs1466434878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62776425 (GRCh38)
11:62543897 (GRCh37)
Canonical SPDI:: NC_000011.10:62776424:G:A
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62776425G>A, NC_000011.9:g.62543897G>A, NM_006473.4:c.189G>A, NM_006473.3:c.189G>A, XM_005273714.3:c.189G>A, XM_005273714.2:c.189G>A, XM_005273714.1:c.189G>A

Select item 146417294017.

rs1464172940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62775811 (GRCh38)
11:62543283 (GRCh37)
Canonical SPDI:: NC_000011.10:62775810:G:A,NC_000011.10:62775810:G:C
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62775811G>A, NC_000011.10:g.62775811G>C, NC_000011.9:g.62543283G>A, NC_000011.9:g.62543283G>C, NM_006473.4:c.28G>A, NM_006473.4:c.28G>C, NM_006473.3:c.28G>A, NM_006473.3:c.28G>C, XM_005273714.3:c.28G>A, XM_005273714.3:c.28G>C, XM_005273714.2:c.28G>A, XM_005273714.2:c.28G>C, XM_005273714.1:c.28G>A, XM_005273714.1:c.28G>C, NP_006464.1:p.Val10Met, NP_006464.1:p.Val10Leu, XP_005273771.1:p.Val10Met, XP_005273771.1:p.Val10Leu

Select item 146346859018.

rs1463468590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62775822 (GRCh38)
11:62543294 (GRCh37)
Canonical SPDI:: NC_000011.10:62775821:T:C
Gene:: TAF6L (Varview), TMEM223 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62775822T>C, NC_000011.9:g.62543294T>C, NM_006473.4:c.39T>C, NM_006473.3:c.39T>C, XM_005273714.3:c.39T>C, XM_005273714.2:c.39T>C, XM_005273714.1:c.39T>C

Select item 146277045519.

rs1462770455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62786841 (GRCh38)
11:62554313 (GRCh37)
Canonical SPDI:: NC_000011.10:62786840:A:G
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62786841A>G, NC_000011.9:g.62554313A>G, NM_006473.4:c.1414A>G, NM_006473.3:c.1414A>G, XM_005273714.3:c.1387A>G, XM_005273714.2:c.1387A>G, XM_005273714.1:c.1387A>G, XM_017017100.3:c.781A>G, XM_017017100.2:c.781A>G, XM_017017100.1:c.781A>G, NM_018336.1:c.171T>C, NP_006464.1:p.Lys472Glu, XP_005273771.1:p.Lys463Glu, XP_016872589.1:p.Lys261Glu

Select item 146198046520.

rs1461980465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62787154 (GRCh38)
11:62554626 (GRCh37)
Canonical SPDI:: NC_000011.10:62787153:G:A
Gene:: TAF6L (Varview), TMEM223 (Varview), TMEM179B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.62787154G>A, NC_000011.9:g.62554626G>A, NM_006473.4:c.1727G>A, NM_006473.3:c.1727G>A, XM_005273714.3:c.1700G>A, XM_005273714.2:c.1700G>A, XM_005273714.1:c.1700G>A, XM_017017100.3:c.1094G>A, XM_017017100.2:c.1094G>A, XM_017017100.1:c.1094G>A, NM_018336.1:c.-143C>T, NP_006464.1:p.Arg576His, XP_005273771.1:p.Arg567His, XP_016872589.1:p.Arg365His

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