SNP Links for Protein (Select 5032151) - SNP

Links from Protein

Items: 1 to 20 of 188

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Select item 14904811331.

rs1490481133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:34887952 (GRCh38)
6:34855729 (GRCh37)
Canonical SPDI:: NC_000006.12:34887951:G:A
Gene:: TAF11 (Varview), ANKS1A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.34887952G>A, NC_000006.11:g.34855729G>A, NM_005643.4:c.6C>T, NM_005643.3:c.6C>T, NM_001270488.1:c.6C>T

Select item 14839317262.

rs1483931726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:34878706 (GRCh38)
6:34846483 (GRCh37)
Canonical SPDI:: NC_000006.12:34878705:C:G
Gene:: TAF11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.34878706C>G, NC_000006.11:g.34846483C>G, NM_005643.4:c.520G>C, NM_005643.3:c.520G>C, XM_011514827.3:c.388G>C, XM_011514827.2:c.388G>C, XM_011514827.1:c.388G>C, XM_047419270.1:c.291G>C, NM_001270488.1:c.423G>C, NP_005634.1:p.Glu174Gln, XP_011513129.1:p.Glu130Gln

Select item 14819553153.

rs1481955315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:34878674 (GRCh38)
6:34846451 (GRCh37)
Canonical SPDI:: NC_000006.12:34878673:G:A
Gene:: TAF11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34878674G>A, NC_000006.11:g.34846451G>A, NM_005643.4:c.552C>T, NM_005643.3:c.552C>T, XM_011514827.3:c.420C>T, XM_011514827.2:c.420C>T, XM_011514827.1:c.420C>T, XM_047419270.1:c.323C>T, NM_001270488.1:c.455C>T, XP_047275226.1:p.Pro108Leu, NP_001257417.1:p.Pro152Leu

Select item 14804380134.

rs1480438013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:34883004 (GRCh38)
6:34850781 (GRCh37)
Canonical SPDI:: NC_000006.12:34883003:T:G
Gene:: TAF11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34883004T>G, NC_000006.11:g.34850781T>G, NM_005643.4:c.248A>C, NM_005643.3:c.248A>C, XM_011514827.3:c.116A>C, XM_011514827.2:c.116A>C, XM_011514827.1:c.116A>C, XM_047419270.1:c.116A>C, NM_001270488.1:c.248A>C, NP_005634.1:p.Lys83Thr, XP_011513129.1:p.Lys39Thr, XP_047275226.1:p.Lys39Thr, NP_001257417.1:p.Lys83Thr

Select item 14716121355.

rs1471612135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:34880040 (GRCh38)
6:34847817 (GRCh37)
Canonical SPDI:: NC_000006.12:34880039:G:A
Gene:: TAF11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.34880040G>A, NC_000006.11:g.34847817G>A, NM_005643.4:c.432C>T, NM_005643.3:c.432C>T, XM_011514827.3:c.300C>T, XM_011514827.2:c.300C>T, XM_011514827.1:c.300C>T

Select item 14705649736.

rs1470564973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:34878621 (GRCh38)
6:34846398 (GRCh37)
Canonical SPDI:: NC_000006.12:34878620:T:A
Gene:: TAF11 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.34878621T>A, NC_000006.11:g.34846398T>A, NM_005643.4:c.605A>T, NM_005643.3:c.605A>T, XM_011514827.3:c.473A>T, XM_011514827.2:c.473A>T, XM_011514827.1:c.473A>T, XM_047419270.1:c.*43A>T, NM_001270488.1:c.*43A>T, NP_005634.1:p.Asn202Ile, XP_011513129.1:p.Asn158Ile

Select item 14659037447.

rs1465903744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:34880003 (GRCh38)
6:34847781 (GRCh37)
Canonical SPDI:: NC_000006.12:34880003:A:AA
Gene:: TAF11 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.34880004dup, NC_000006.11:g.34847781dup, NM_005643.4:c.468dup, NM_005643.3:c.468dup, XM_011514827.3:c.336dup, XM_011514827.2:c.336dup, XM_011514827.1:c.336dup, NP_005634.1:p.Ile157fs, XP_011513129.1:p.Ile113fs

Select item 14623653528.

rs1462365352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:34887935 (GRCh38)
6:34855712 (GRCh37)
Canonical SPDI:: NC_000006.12:34887934:G:A
Gene:: TAF11 (Varview), ANKS1A (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34887935G>A, NC_000006.11:g.34855712G>A, NM_005643.4:c.23C>T, NM_005643.3:c.23C>T, NM_001270488.1:c.23C>T, NP_005634.1:p.Pro8Leu, NP_001257417.1:p.Pro8Leu

Select item 14596137529.

rs1459613752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:34887867 (GRCh38)
6:34855644 (GRCh37)
Canonical SPDI:: NC_000006.12:34887866:T:C
Gene:: TAF11 (Varview), ANKS1A (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34887867T>C, NC_000006.11:g.34855644T>C, NM_005643.4:c.91A>G, NM_005643.3:c.91A>G, NM_001270488.1:c.91A>G, NP_005634.1:p.Thr31Ala, NP_001257417.1:p.Thr31Ala

Select item 144855303710.

rs1448553037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:34882989 (GRCh38)
6:34850766 (GRCh37)
Canonical SPDI:: NC_000006.12:34882988:G:A
Gene:: TAF11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34882989G>A, NC_000006.11:g.34850766G>A, NM_005643.4:c.263C>T, NM_005643.3:c.263C>T, XM_011514827.3:c.131C>T, XM_011514827.2:c.131C>T, XM_011514827.1:c.131C>T, XM_047419270.1:c.131C>T, NM_001270488.1:c.263C>T, NP_005634.1:p.Thr88Ile, XP_011513129.1:p.Thr44Ile, XP_047275226.1:p.Thr44Ile, NP_001257417.1:p.Thr88Ile

Select item 144720567611.

rs1447205676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:34879996 (GRCh38)
6:34847773 (GRCh37)
Canonical SPDI:: NC_000006.12:34879995:T:C
Gene:: TAF11 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34879996T>C, NC_000006.11:g.34847773T>C, NM_005643.4:c.476A>G, NM_005643.3:c.476A>G, XM_011514827.3:c.344A>G, XM_011514827.2:c.344A>G, XM_011514827.1:c.344A>G, NP_005634.1:p.Lys159Arg, XP_011513129.1:p.Lys115Arg

Select item 144606889212.

rs1446068892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:34878698 (GRCh38)
6:34846475 (GRCh37)
Canonical SPDI:: NC_000006.12:34878697:C:A,NC_000006.12:34878697:C:G,NC_000006.12:34878697:C:T
Gene:: TAF11 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34878698C>A, NC_000006.12:g.34878698C>G, NC_000006.12:g.34878698C>T, NC_000006.11:g.34846475C>A, NC_000006.11:g.34846475C>G, NC_000006.11:g.34846475C>T, NM_005643.4:c.528G>T, NM_005643.4:c.528G>C, NM_005643.4:c.528G>A, NM_005643.3:c.528G>T, NM_005643.3:c.528G>C, NM_005643.3:c.528G>A, XM_011514827.3:c.396G>T, XM_011514827.3:c.396G>C, XM_011514827.3:c.396G>A, XM_011514827.2:c.396G>T, XM_011514827.2:c.396G>C, XM_011514827.2:c.396G>A, XM_011514827.1:c.396G>T, XM_011514827.1:c.396G>C, XM_011514827.1:c.396G>A, XM_047419270.1:c.299G>T, XM_047419270.1:c.299G>C, XM_047419270.1:c.299G>A, NM_001270488.1:c.431G>T, NM_001270488.1:c.431G>C, NM_001270488.1:c.431G>A, NP_005634.1:p.Trp176Cys, NP_005634.1:p.Trp176Cys, NP_005634.1:p.Trp176Ter, XP_011513129.1:p.Trp132Cys, XP_011513129.1:p.Trp132Cys, XP_011513129.1:p.Trp132Ter, XP_047275226.1:p.Gly100Val, XP_047275226.1:p.Gly100Ala, XP_047275226.1:p.Gly100Glu, NP_001257417.1:p.Gly144Val, NP_001257417.1:p.Gly144Ala, NP_001257417.1:p.Gly144Glu

Select item 143324259413.

rs1433242594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:34887909 (GRCh38)
6:34855686 (GRCh37)
Canonical SPDI:: NC_000006.12:34887908:C:G
Gene:: TAF11 (Varview), ANKS1A (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.34887909C>G, NC_000006.11:g.34855686C>G, NM_005643.4:c.49G>C, NM_005643.3:c.49G>C, NM_001270488.1:c.49G>C, NP_005634.1:p.Glu17Gln, NP_001257417.1:p.Glu17Gln

Select item 143323555014.

rs1433235550 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:34879968 (GRCh38)
6:34847745 (GRCh37)
Canonical SPDI:: NC_000006.12:34879967:T:A
Gene:: TAF11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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)
HGVS:: NC_000006.12:g.34879968T>A, NC_000006.11:g.34847745T>A, NM_005643.4:c.504A>T, NM_005643.3:c.504A>T, XM_011514827.3:c.372A>T, XM_011514827.2:c.372A>T, XM_011514827.1:c.372A>T, NP_005634.1:p.Glu168Asp, XP_011513129.1:p.Glu124Asp

Select item 143210183915.

rs1432101839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:34880025 (GRCh38)
6:34847802 (GRCh37)
Canonical SPDI:: NC_000006.12:34880024:A:G
Gene:: TAF11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34880025A>G, NC_000006.11:g.34847802A>G, NM_005643.4:c.447T>C, NM_005643.3:c.447T>C, XM_011514827.3:c.315T>C, XM_011514827.2:c.315T>C, XM_011514827.1:c.315T>C

Select item 143202668216.

rs1432026682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:34880050 (GRCh38)
6:34847827 (GRCh37)
Canonical SPDI:: NC_000006.12:34880049:A:G
Gene:: TAF11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.34880050A>G, NC_000006.11:g.34847827A>G, NM_005643.4:c.422T>C, NM_005643.3:c.422T>C, XM_011514827.3:c.290T>C, XM_011514827.2:c.290T>C, XM_011514827.1:c.290T>C, NP_005634.1:p.Ile141Thr, XP_011513129.1:p.Ile97Thr

Select item 142687232417.

rs1426872324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:34878606 (GRCh38)
6:34846383 (GRCh37)
Canonical SPDI:: NC_000006.12:34878605:T:C
Gene:: TAF11 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34878606T>C, NC_000006.11:g.34846383T>C, NM_005643.4:c.620A>G, NM_005643.3:c.620A>G, XM_011514827.3:c.488A>G, XM_011514827.2:c.488A>G, XM_011514827.1:c.488A>G, XM_047419270.1:c.*58A>G, NM_001270488.1:c.*58A>G, NP_005634.1:p.Lys207Arg, XP_011513129.1:p.Lys163Arg

Select item 141931887718.

rs1419318877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:34887874 (GRCh38)
6:34855651 (GRCh37)
Canonical SPDI:: NC_000006.12:34887873:C:T
Gene:: TAF11 (Varview), ANKS1A (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.34887874C>T, NC_000006.11:g.34855651C>T, NM_005643.4:c.84G>A, NM_005643.3:c.84G>A, NM_001270488.1:c.84G>A

Select item 141165730319.

rs1411657303 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:34880362 (GRCh38)
6:34848139 (GRCh37)
Canonical SPDI:: NC_000006.12:34880361:G:
Gene:: TAF11 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.34880362del, NC_000006.11:g.34848139del, NM_005643.4:c.335del, NM_005643.3:c.335del, XM_011514827.3:c.203del, XM_011514827.2:c.203del, XM_011514827.1:c.203del, XM_047419270.1:c.203del, NM_001270488.1:c.335del, NP_005634.1:p.Ser112fs, XP_011513129.1:p.Ser68fs, XP_047275226.1:p.Ser68fs, NP_001257417.1:p.Ser112fs

Select item 140888105520.

rs1408881055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:34880051 (GRCh38)
6:34847828 (GRCh37)
Canonical SPDI:: NC_000006.12:34880050:T:G
Gene:: TAF11 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.34880051T>G, NC_000006.11:g.34847828T>G, NM_005643.4:c.421A>C, NM_005643.3:c.421A>C, XM_011514827.3:c.289A>C, XM_011514827.2:c.289A>C, XM_011514827.1:c.289A>C, NP_005634.1:p.Ile141Leu, XP_011513129.1:p.Ile97Leu

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