SNP Links for Protein (Select 217272877) - SNP

Links from Protein

Items: 1 to 20 of 376

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Select item 14848743111.

rs1484874311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:13500772 (GRCh38)
3:13542272 (GRCh37)
Canonical SPDI:: NC_000003.12:13500771:A:C
Gene:: HDAC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13500772A>C, NC_000003.11:g.13542272A>C, NM_024827.4:c.472A>C, NM_024827.3:c.472A>C, NM_001136041.3:c.319A>C, NM_001136041.2:c.319A>C, NP_079103.2:p.Ile158Leu, NP_001129513.1:p.Ile107Leu

Select item 14777063052.

rs1477706305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13504252 (GRCh38)
3:13545752 (GRCh37)
Canonical SPDI:: NC_000003.12:13504251:G:A
Gene:: HDAC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.13504252G>A, NC_000003.11:g.13545752G>A, NM_024827.4:c.808G>A, NM_024827.3:c.808G>A, NM_001136041.3:c.655G>A, NM_001136041.2:c.655G>A, NM_001330636.2:c.571G>A, NM_001330636.1:c.571G>A, NP_079103.2:p.Gly270Arg, NP_001129513.1:p.Gly219Arg, NP_001317565.1:p.Gly191Arg

Select item 14776913003.

rs1477691300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:13504535 (GRCh38)
3:13546035 (GRCh37)
Canonical SPDI:: NC_000003.12:13504534:T:C
Gene:: HDAC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13504535T>C, NC_000003.11:g.13546035T>C, NM_024827.4:c.896T>C, NM_024827.3:c.896T>C, NM_001136041.3:c.743T>C, NM_001136041.2:c.743T>C, NM_001330636.2:c.659T>C, NM_001330636.1:c.659T>C, NP_079103.2:p.Val299Ala, NP_001129513.1:p.Val248Ala, NP_001317565.1:p.Val220Ala

Select item 14754537484.

rs1475453748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:13481322 (GRCh38)
3:13522822 (GRCh37)
Canonical SPDI:: NC_000003.12:13481321:A:G
Gene:: HDAC11 (Varview), HDAC11-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
G=0.001027/3 (KOREAN)
HGVS:: NC_000003.12:g.13481322A>G, NC_000003.11:g.13522822A>G, NM_024827.4:c.79A>G, NM_024827.3:c.79A>G, NM_001136041.3:c.-6A>G, NM_001136041.2:c.-6A>G, NM_001330636.2:c.79A>G, NM_001330636.1:c.79A>G, NP_079103.2:p.Thr27Ala, NP_001317565.1:p.Thr27Ala

Select item 14747578485.

rs1474757848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:13504518 (GRCh38)
3:13546018 (GRCh37)
Canonical SPDI:: NC_000003.12:13504517:G:T
Gene:: HDAC11 (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_000003.12:g.13504518G>T, NC_000003.11:g.13546018G>T, NM_024827.4:c.879G>T, NM_024827.3:c.879G>T, NM_001136041.3:c.726G>T, NM_001136041.2:c.726G>T, NM_001330636.2:c.642G>T, NM_001330636.1:c.642G>T

Select item 14736716206.

rs1473671620 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:13504474 (GRCh38)
3:13545974 (GRCh37)
Canonical SPDI:: NC_000003.12:13504473:G:
Gene:: HDAC11 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.13504474del, NC_000003.11:g.13545974del, NM_024827.4:c.835del, NM_024827.3:c.835del, NM_001136041.3:c.682del, NM_001136041.2:c.682del, NM_001330636.2:c.598del, NM_001330636.1:c.598del, NP_079103.2:p.Ile278_Val279insTer, NP_001129513.1:p.Ile227_Val228insTer, NP_001317565.1:p.Ile199_Val200insTer

Select item 14700917657.

rs1470091765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:13501885 (GRCh38)
3:13543385 (GRCh37)
Canonical SPDI:: NC_000003.12:13501884:T:C
Gene:: HDAC11 (Varview)
Functional Consequence:: synonymous_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_000003.12:g.13501885T>C, NC_000003.11:g.13543385T>C, NM_024827.4:c.504T>C, NM_024827.3:c.504T>C, NM_001136041.3:c.351T>C, NM_001136041.2:c.351T>C, NM_001330636.2:c.267T>C, NM_001330636.1:c.267T>C

Select item 14662164968.

rs1466216496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13504557 (GRCh38)
3:13546057 (GRCh37)
Canonical SPDI:: NC_000003.12:13504556:G:A
Gene:: HDAC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13504557G>A, NC_000003.11:g.13546057G>A, NM_024827.4:c.918G>A, NM_024827.3:c.918G>A, NM_001136041.3:c.765G>A, NM_001136041.2:c.765G>A, NM_001330636.2:c.681G>A, NM_001330636.1:c.681G>A

Select item 14640716649.

rs1464071664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:13496788 (GRCh38)
3:13538288 (GRCh37)
Canonical SPDI:: NC_000003.12:13496787:C:G
Gene:: HDAC11 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13496788C>G, NC_000003.11:g.13538288C>G, NM_024827.4:c.305C>G, NM_024827.3:c.305C>G, NP_079103.2:p.Pro102Arg

Select item 146180621610.

rs1461806216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:13500769 (GRCh38)
3:13542269 (GRCh37)
Canonical SPDI:: NC_000003.12:13500768:G:A,NC_000003.12:13500768:G:T
Gene:: HDAC11 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.13500769G>A, NC_000003.12:g.13500769G>T, NC_000003.11:g.13542269G>A, NC_000003.11:g.13542269G>T, NM_024827.4:c.469G>A, NM_024827.4:c.469G>T, NM_024827.3:c.469G>A, NM_024827.3:c.469G>T, NM_001136041.3:c.316G>A, NM_001136041.3:c.316G>T, NM_001136041.2:c.316G>A, NM_001136041.2:c.316G>T, NP_079103.2:p.Asp157Asn, NP_079103.2:p.Asp157Tyr, NP_001129513.1:p.Asp106Asn, NP_001129513.1:p.Asp106Tyr

Select item 146173746811.

rs1461737468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13498534 (GRCh38)
3:13540034 (GRCh37)
Canonical SPDI:: NC_000003.12:13498533:C:T
Gene:: HDAC11 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13498534C>T, NC_000003.11:g.13540034C>T, NM_024827.4:c.391C>T, NM_024827.3:c.391C>T, NM_001136041.3:c.238C>T, NM_001136041.2:c.238C>T, NP_079103.2:p.Arg131Ter, NP_001129513.1:p.Arg80Ter

Select item 145783125912.

rs1457831259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:13504527 (GRCh38)
3:13546027 (GRCh37)
Canonical SPDI:: NC_000003.12:13504526:C:A,NC_000003.12:13504526:C:T
Gene:: HDAC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.13504527C>A, NC_000003.12:g.13504527C>T, NC_000003.11:g.13546027C>A, NC_000003.11:g.13546027C>T, NM_024827.4:c.888C>A, NM_024827.4:c.888C>T, NM_024827.3:c.888C>A, NM_024827.3:c.888C>T, NM_001136041.3:c.735C>A, NM_001136041.3:c.735C>T, NM_001136041.2:c.735C>A, NM_001136041.2:c.735C>T, NM_001330636.2:c.651C>A, NM_001330636.2:c.651C>T, NM_001330636.1:c.651C>A, NM_001330636.1:c.651C>T

Select item 145649134713.

rs1456491347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:13481345 (GRCh38)
3:13522845 (GRCh37)
Canonical SPDI:: NC_000003.12:13481344:G:C
Gene:: HDAC11 (Varview), HDAC11-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13481345G>C, NC_000003.11:g.13522845G>C, NM_024827.4:c.102G>C, NM_024827.3:c.102G>C, NM_001136041.3:c.18G>C, NM_001136041.2:c.18G>C, NM_001330636.2:c.102G>C, NM_001330636.1:c.102G>C

Select item 145473958514.

rs1454739585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13500762 (GRCh38)
3:13542262 (GRCh37)
Canonical SPDI:: NC_000003.12:13500761:C:T
Gene:: HDAC11 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.13500762C>T, NC_000003.11:g.13542262C>T, NM_024827.4:c.462C>T, NM_024827.3:c.462C>T, NM_001136041.3:c.309C>T, NM_001136041.2:c.309C>T

Select item 145411482515.

rs1454114825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:13483486 (GRCh38)
3:13524986 (GRCh37)
Canonical SPDI:: NC_000003.12:13483485:C:T
Gene:: HDAC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.13483486C>T, NC_000003.11:g.13524986C>T, NG_077171.1:g.218C>T, NM_024827.4:c.174C>T, NM_024827.3:c.174C>T, NM_001136041.3:c.90C>T, NM_001136041.2:c.90C>T, NM_001330636.2:c.174C>T, NM_001330636.1:c.174C>T

Select item 144684543716.

rs1446845437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13481376 (GRCh38)
3:13522876 (GRCh37)
Canonical SPDI:: NC_000003.12:13481375:G:A
Gene:: HDAC11 (Varview), HDAC11-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_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_000003.12:g.13481376G>A, NC_000003.11:g.13522876G>A, NM_024827.4:c.133G>A, NM_024827.3:c.133G>A, NM_001136041.3:c.49G>A, NM_001136041.2:c.49G>A, NM_001330636.2:c.133G>A, NM_001330636.1:c.133G>A, NP_079103.2:p.Val45Met, NP_001129513.1:p.Val17Met, NP_001317565.1:p.Val45Met

Select item 144407093017.

rs1444070930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13496852 (GRCh38)
3:13538352 (GRCh37)
Canonical SPDI:: NC_000003.12:13496851:G:A
Gene:: HDAC11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000003.12:g.13496852G>A, NC_000003.11:g.13538352G>A, NM_024827.4:c.369G>A, NM_024827.3:c.369G>A, NM_001136041.3:c.216G>A, NM_001136041.2:c.216G>A, NP_079103.2:p.Met123Ile, NP_001129513.1:p.Met72Ile

Select item 144184594918.

rs1441845949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:13500748 (GRCh38)
3:13542248 (GRCh37)
Canonical SPDI:: NC_000003.12:13500747:G:A
Gene:: HDAC11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13500748G>A, NC_000003.11:g.13542248G>A, NM_024827.4:c.448G>A, NM_024827.3:c.448G>A, NM_001136041.3:c.295G>A, NM_001136041.2:c.295G>A, NP_079103.2:p.Gly150Arg, NP_001129513.1:p.Gly99Arg

Select item 143808572319.

rs1438085723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:13504220 (GRCh38)
3:13545720 (GRCh37)
Canonical SPDI:: NC_000003.12:13504219:G:C
Gene:: HDAC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.13504220G>C, NC_000003.11:g.13545720G>C, NM_024827.4:c.776G>C, NM_024827.3:c.776G>C, NM_001136041.3:c.623G>C, NM_001136041.2:c.623G>C, NM_001330636.2:c.539G>C, NM_001330636.1:c.539G>C, NP_079103.2:p.Gly259Ala, NP_001129513.1:p.Gly208Ala, NP_001317565.1:p.Gly180Ala

Select item 143644211420.

rs1436442114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:13504562 (GRCh38)
3:13546062 (GRCh37)
Canonical SPDI:: NC_000003.12:13504561:C:G
Gene:: HDAC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.13504562C>G, NC_000003.11:g.13546062C>G, NM_024827.4:c.923C>G, NM_024827.3:c.923C>G, NM_001136041.3:c.770C>G, NM_001136041.2:c.770C>G, NM_001330636.2:c.686C>G, NM_001330636.1:c.686C>G, NP_079103.2:p.Thr308Arg, NP_001129513.1:p.Thr257Arg, NP_001317565.1:p.Thr229Arg

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