SNP Links for Protein (Select 4504721) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 230

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Select item 14883067321.

rs1488306732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:132484030 (GRCh38)
5:131819722 (GRCh37)
Canonical SPDI:: NC_000005.10:132484029:T:C
Gene:: IRF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132484030T>C, NC_000005.9:g.131819722T>C, NG_011450.1:g.11744A>G, NM_002198.3:c.899A>G, NM_002198.2:c.899A>G, NM_001354924.1:c.776A>G, NR_149068.1:n.960A>G, NM_001354925.1:c.713A>G, XM_011543379.3:c.647A>G, XM_011543379.2:c.647A>G, XM_011543379.1:c.647A>G, XM_047417153.1:c.806A>G, XM_047417154.1:c.524A>G, NP_002189.1:p.Asn300Ser, NP_001341853.1:p.Asn259Ser, NP_001341854.1:p.Asn238Ser, XP_011541681.1:p.Asn216Ser, XP_047273109.1:p.Asn269Ser, XP_047273110.1:p.Asn175Ser

Select item 14851846962.

rs1485184696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:132486341 (GRCh38)
5:131822033 (GRCh37)
Canonical SPDI:: NC_000005.10:132486340:G:C,NC_000005.10:132486340:G:T
Gene:: IRF1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.132486341G>C, NC_000005.10:g.132486341G>T, NC_000005.9:g.131822033G>C, NC_000005.9:g.131822033G>T, NG_011450.1:g.9433C>G, NG_011450.1:g.9433C>A, NM_002198.3:c.577C>G, NM_002198.3:c.577C>A, NM_002198.2:c.577C>G, NM_002198.2:c.577C>A, NM_001354925.1:c.577C>G, NM_001354925.1:c.577C>A, NG_083822.1:g.445G>C, NG_083822.1:g.445G>T, XM_011543379.3:c.325C>G, XM_011543379.3:c.325C>A, XM_011543379.2:c.325C>G, XM_011543379.2:c.325C>A, XM_011543379.1:c.325C>G, XM_011543379.1:c.325C>A, XM_047417153.1:c.484C>G, XM_047417153.1:c.484C>A, NM_001207002.1:c.238G>C, NM_001207002.1:c.238G>T, NP_002189.1:p.Pro193Ala, NP_002189.1:p.Pro193Thr, NP_001341854.1:p.Pro193Ala, NP_001341854.1:p.Pro193Thr, XP_011541681.1:p.Pro109Ala, XP_011541681.1:p.Pro109Thr, XP_047273109.1:p.Pro162Ala, XP_047273109.1:p.Pro162Thr

Select item 14751077203.

rs1475107720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:132484471 (GRCh38)
5:131820163 (GRCh37)
Canonical SPDI:: NC_000005.10:132484470:T:G
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.132484471T>G, NC_000005.9:g.131820163T>G, NG_011450.1:g.11303A>C, NM_002198.3:c.744A>C, NM_002198.2:c.744A>C, NM_001354924.1:c.621A>C, NR_149068.1:n.805A>C, XM_011543379.3:c.492A>C, XM_011543379.2:c.492A>C, XM_011543379.1:c.492A>C, XM_047417153.1:c.651A>C, XM_047417154.1:c.369A>C

Select item 14731470624.

rs1473147062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:132484417 (GRCh38)
5:131820109 (GRCh37)
Canonical SPDI:: NC_000005.10:132484416:G:A
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132484417G>A, NC_000005.9:g.131820109G>A, NG_011450.1:g.11357C>T, NM_002198.3:c.798C>T, NM_002198.2:c.798C>T, NM_001354924.1:c.675C>T, NR_149068.1:n.859C>T, XM_011543379.3:c.546C>T, XM_011543379.2:c.546C>T, XM_011543379.1:c.546C>T, XM_047417153.1:c.705C>T, XM_047417154.1:c.423C>T

Select item 14697442035.

rs1469744203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:132486561 (GRCh38)
5:131822253 (GRCh37)
Canonical SPDI:: NC_000005.10:132486560:A:C
Gene:: IRF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.132486561A>C, NC_000005.9:g.131822253A>C, NG_011450.1:g.9213T>G, NM_002198.3:c.540T>G, NM_002198.2:c.540T>G, NM_001354924.1:c.540T>G, NR_149068.1:n.774T>G, NM_001354925.1:c.540T>G, NG_083822.1:g.665A>C, XM_011543379.3:c.288T>G, XM_011543379.2:c.288T>G, XM_011543379.1:c.288T>G, XM_047417153.1:c.447T>G, XM_047417154.1:c.288T>G, NM_001207002.1:c.*206A>C

Select item 14677148736.

rs1467714873 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:132486342 (GRCh38)
5:131822035 (GRCh37)
Canonical SPDI:: NC_000005.10:132486342:A:AA
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.132486343dup, NC_000005.9:g.131822035dup, NG_011450.1:g.9431dup, NM_002198.3:c.575dup, NM_002198.2:c.575dup, NM_001354925.1:c.575dup, NG_083822.1:g.447dup, XM_011543379.3:c.323dup, XM_011543379.2:c.323dup, XM_011543379.1:c.323dup, XM_047417153.1:c.482dup, NM_001207002.1:c.240dup, NP_002189.1:p.Asp194fs, NP_001341854.1:p.Asp194fs, XP_011541681.1:p.Asp110fs, XP_047273109.1:p.Asp163fs

Select item 14627234037.

rs1462723403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:132489459 (GRCh38)
5:131825151 (GRCh37)
Canonical SPDI:: NC_000005.10:132489458:C:T
Gene:: IRF1 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.132489459C>T, NC_000005.9:g.131825151C>T, NG_011450.1:g.6315G>A, NM_002198.3:c.20G>A, NM_002198.2:c.20G>A, NR_149069.2:n.254G>A, NR_149069.1:n.254G>A, NM_001354924.1:c.20G>A, NR_149068.1:n.254G>A, NM_001354925.1:c.20G>A, NP_002189.1:p.Arg7His, NP_001341853.1:p.Arg7His, NP_001341854.1:p.Arg7His

Select item 14595746728.

rs1459574672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:132486569 (GRCh38)
5:131822261 (GRCh37)
Canonical SPDI:: NC_000005.10:132486568:C:A
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132486569C>A, NC_000005.9:g.131822261C>A, NG_011450.1:g.9205G>T, NM_002198.3:c.532G>T, NM_002198.2:c.532G>T, NM_001354924.1:c.532G>T, NR_149068.1:n.766G>T, NM_001354925.1:c.532G>T, NG_083822.1:g.673C>A, XM_011543379.3:c.280G>T, XM_011543379.2:c.280G>T, XM_011543379.1:c.280G>T, XM_047417153.1:c.439G>T, XM_047417154.1:c.280G>T, NM_001207002.1:c.*214C>A, NP_002189.1:p.Ala178Ser, NP_001341853.1:p.Ala178Ser, NP_001341854.1:p.Ala178Ser, XP_011541681.1:p.Ala94Ser, XP_047273109.1:p.Ala147Ser, XP_047273110.1:p.Ala94Ser

Select item 14576200809.

rs1457620080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:132488025 (GRCh38)
5:131823717 (GRCh37)
Canonical SPDI:: NC_000005.10:132488024:C:T
Gene:: IRF1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,5_prime_UTR_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_000005.10:g.132488025C>T, NC_000005.9:g.131823717C>T, NG_011450.1:g.7749G>A, NM_002198.3:c.88G>A, NM_002198.2:c.88G>A, NM_001354924.1:c.88G>A, NR_149068.1:n.322G>A, NM_001354925.1:c.88G>A, XM_047417153.1:c.-6G>A, NP_002189.1:p.Glu30Lys, NP_001341853.1:p.Glu30Lys, NP_001341854.1:p.Glu30Lys

Select item 145283885310.

rs1452838853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:132484071 (GRCh38)
5:131819763 (GRCh37)
Canonical SPDI:: NC_000005.10:132484070:A:G
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132484071A>G, NC_000005.9:g.131819763A>G, NG_011450.1:g.11703T>C, NM_002198.3:c.858T>C, NM_002198.2:c.858T>C, NM_001354924.1:c.735T>C, NR_149068.1:n.919T>C, NM_001354925.1:c.672T>C, XM_011543379.3:c.606T>C, XM_011543379.2:c.606T>C, XM_011543379.1:c.606T>C, XM_047417153.1:c.765T>C, XM_047417154.1:c.483T>C

Select item 144457191011.

rs1444571910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:132487993 (GRCh38)
5:131823685 (GRCh37)
Canonical SPDI:: NC_000005.10:132487992:A:G
Gene:: IRF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.132487993A>G, NC_000005.9:g.131823685A>G, NG_011450.1:g.7781T>C, NM_002198.3:c.120T>C, NM_002198.2:c.120T>C, NM_001354924.1:c.120T>C, NR_149068.1:n.354T>C, NM_001354925.1:c.120T>C, XM_047417153.1:c.27T>C

Select item 144313314012.

rs1443133140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:132484497 (GRCh38)
5:131820189 (GRCh37)
Canonical SPDI:: NC_000005.10:132484496:G:T
Gene:: IRF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132484497G>T, NC_000005.9:g.131820189G>T, NG_011450.1:g.11277C>A, NM_002198.3:c.718C>A, NM_002198.2:c.718C>A, NM_001354924.1:c.595C>A, NR_149068.1:n.779C>A, XM_011543379.3:c.466C>A, XM_011543379.2:c.466C>A, XM_011543379.1:c.466C>A, XM_047417153.1:c.625C>A, XM_047417154.1:c.343C>A, NP_002189.1:p.Leu240Ile, NP_001341853.1:p.Leu199Ile, XP_011541681.1:p.Leu156Ile, XP_047273109.1:p.Leu209Ile, XP_047273110.1:p.Leu115Ile

Select item 144056358713.

rs1440563587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:132486797 (GRCh38)
5:131822489 (GRCh37)
Canonical SPDI:: NC_000005.10:132486796:T:C
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132486797T>C, NC_000005.9:g.131822489T>C, NG_011450.1:g.8977A>G, NM_002198.3:c.412A>G, NM_002198.2:c.412A>G, NM_001354924.1:c.412A>G, NR_149068.1:n.646A>G, NM_001354925.1:c.412A>G, NG_083822.1:g.901T>C, XM_011543379.3:c.160A>G, XM_011543379.2:c.160A>G, XM_011543379.1:c.160A>G, XM_047417153.1:c.319A>G, XM_047417154.1:c.160A>G, NM_001207002.1:c.*442T>C, NP_002189.1:p.Lys138Glu, NP_001341853.1:p.Lys138Glu, NP_001341854.1:p.Lys138Glu, XP_011541681.1:p.Lys54Glu, XP_047273109.1:p.Lys107Glu, XP_047273110.1:p.Lys54Glu

Select item 143640289514.

rs1436402895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:132486844 (GRCh38)
5:131822536 (GRCh37)
Canonical SPDI:: NC_000005.10:132486843:T:C
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_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_000005.10:g.132486844T>C, NC_000005.9:g.131822536T>C, NG_011450.1:g.8930A>G, NM_002198.3:c.365A>G, NM_002198.2:c.365A>G, NM_001354924.1:c.365A>G, NR_149068.1:n.599A>G, NM_001354925.1:c.365A>G, NG_083822.1:g.948T>C, XM_011543379.3:c.113A>G, XM_011543379.2:c.113A>G, XM_011543379.1:c.113A>G, XM_047417153.1:c.272A>G, XM_047417154.1:c.113A>G, NM_001207002.1:c.*489T>C, NP_002189.1:p.Glu122Gly, NP_001341853.1:p.Glu122Gly, NP_001341854.1:p.Glu122Gly, XP_011541681.1:p.Glu38Gly, XP_047273109.1:p.Glu91Gly, XP_047273110.1:p.Glu38Gly

Select item 143082914915.

rs1430829149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:132486273 (GRCh38)
5:131821965 (GRCh37)
Canonical SPDI:: NC_000005.10:132486272:T:C
Gene:: IRF1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00006/2 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.132486273T>C, NC_000005.9:g.131821965T>C, NG_011450.1:g.9501A>G, NM_002198.3:c.645A>G, NM_002198.2:c.645A>G, NM_001354925.1:c.645A>G, NG_083822.1:g.377T>C, XM_011543379.3:c.393A>G, XM_011543379.2:c.393A>G, XM_011543379.1:c.393A>G, XM_047417153.1:c.552A>G, NM_001207002.1:c.170T>C

Select item 142945891316.

rs1429458913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:132486332 (GRCh38)
5:131822024 (GRCh37)
Canonical SPDI:: NC_000005.10:132486331:G:A
Gene:: IRF1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.132486332G>A, NC_000005.9:g.131822024G>A, NG_011450.1:g.9442C>T, NM_002198.3:c.586C>T, NM_002198.2:c.586C>T, NM_001354925.1:c.586C>T, NG_083822.1:g.436G>A, XM_011543379.3:c.334C>T, XM_011543379.2:c.334C>T, XM_011543379.1:c.334C>T, XM_047417153.1:c.493C>T, NM_001207002.1:c.229G>A, NP_002189.1:p.His196Tyr, NP_001341854.1:p.His196Tyr, XP_011541681.1:p.His112Tyr, XP_047273109.1:p.His165Tyr

Select item 142893465317.

rs1428934653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:132486842 (GRCh38)
5:131822534 (GRCh37)
Canonical SPDI:: NC_000005.10:132486841:T:C
Gene:: IRF1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132486842T>C, NC_000005.9:g.131822534T>C, NG_011450.1:g.8932A>G, NM_002198.3:c.367A>G, NM_002198.2:c.367A>G, NM_001354924.1:c.367A>G, NR_149068.1:n.601A>G, NM_001354925.1:c.367A>G, NG_083822.1:g.946T>C, XM_011543379.3:c.115A>G, XM_011543379.2:c.115A>G, XM_011543379.1:c.115A>G, XM_047417153.1:c.274A>G, XM_047417154.1:c.115A>G, NM_001207002.1:c.*487T>C, NP_002189.1:p.Arg123Gly, NP_001341853.1:p.Arg123Gly, NP_001341854.1:p.Arg123Gly, XP_011541681.1:p.Arg39Gly, XP_047273109.1:p.Arg92Gly, XP_047273110.1:p.Arg39Gly

Select item 142155404818.

rs1421554048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:132487081 (GRCh38)
5:131822773 (GRCh37)
Canonical SPDI:: NC_000005.10:132487080:G:C
Gene:: IRF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.132487081G>C, NC_000005.9:g.131822773G>C, NG_011450.1:g.8693C>G, NM_002198.3:c.237C>G, NM_002198.2:c.237C>G, NM_001354924.1:c.237C>G, NR_149068.1:n.471C>G, NM_001354925.1:c.237C>G, NG_083822.1:g.1185G>C, XM_011543379.3:c.-16C>G, XM_011543379.2:c.-16C>G, XM_011543379.1:c.-16C>G, XM_047417153.1:c.144C>G, XM_047417154.1:c.-16C>G

Select item 141954541619.

rs1419545416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:132489428 (GRCh38)
5:131825120 (GRCh37)
Canonical SPDI:: NC_000005.10:132489427:A:G
Gene:: IRF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.132489428A>G, NC_000005.9:g.131825120A>G, NG_011450.1:g.6346T>C, NM_002198.3:c.51T>C, NM_002198.2:c.51T>C, NR_149069.2:n.285T>C, NR_149069.1:n.285T>C, NM_001354924.1:c.51T>C, NR_149068.1:n.285T>C, NM_001354925.1:c.51T>C

Select item 141739224720.

rs1417392247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:132484033 (GRCh38)
5:131819725 (GRCh37)
Canonical SPDI:: NC_000005.10:132484032:T:G
Gene:: IRF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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_000005.10:g.132484033T>G, NC_000005.9:g.131819725T>G, NG_011450.1:g.11741A>C, NM_002198.3:c.896A>C, NM_002198.2:c.896A>C, NM_001354924.1:c.773A>C, NR_149068.1:n.957A>C, NM_001354925.1:c.710A>C, XM_011543379.3:c.644A>C, XM_011543379.2:c.644A>C, XM_011543379.1:c.644A>C, XM_047417153.1:c.803A>C, XM_047417154.1:c.521A>C, NP_002189.1:p.Lys299Thr, NP_001341853.1:p.Lys258Thr, NP_001341854.1:p.Lys237Thr, XP_011541681.1:p.Lys215Thr, XP_047273109.1:p.Lys268Thr, XP_047273110.1:p.Lys174Thr

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