SNP Links for Protein (Select 51317358) - SNP

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Links from Protein

Items: 1 to 20 of 293

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Select item 14909141031.

rs1490914103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:31289683 (GRCh38)
22:31685669 (GRCh37)
Canonical SPDI:: NC_000022.11:31289682:G:C
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31289683G>C, NC_000022.10:g.31685669G>C, NM_052880.5:c.324C>G, NM_052880.4:c.324C>G, NM_001135911.1:c.324C>G

Select item 14874752632.

rs1487475263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:31291016 (GRCh38)
22:31687002 (GRCh37)
Canonical SPDI:: NC_000022.11:31291015:C:T
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.31291016C>T, NC_000022.10:g.31687002C>T, NM_052880.5:c.256G>A, NM_052880.4:c.256G>A, NM_001135911.1:c.256G>A, NP_443112.2:p.Gly86Ser, NP_001129383.1:p.Gly86Ser

Select item 14862963583.

rs1486296358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:31291294 (GRCh38)
22:31687280 (GRCh37)
Canonical SPDI:: NC_000022.11:31291293:A:C
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31291294A>C, NC_000022.10:g.31687280A>C, NM_052880.5:c.73T>G, NM_052880.4:c.73T>G, NM_001135911.1:c.73T>G, NP_443112.2:p.Cys25Gly, NP_001129383.1:p.Cys25Gly

Select item 14856971654.

rs1485697165 [Homo sapiens]

Variant type:: DEL
Alleles:: GGGTCCTCGT>- [Show Flanks]
Chromosome:: 22:31291042 (GRCh38)
22:31687028 (GRCh37)
Canonical SPDI:: NC_000022.11:31291041:GGGTCCTCGT:
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000005/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.31291042_31291051del, NC_000022.10:g.31687028_31687037del, NM_052880.5:c.221_230del, NM_052880.4:c.221_230del, NM_001135911.1:c.221_230del, NP_443112.2:p.Asp74fs, NP_001129383.1:p.Asp74fs

Select item 14847143355.

rs1484714335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31289674 (GRCh38)
22:31685660 (GRCh37)
Canonical SPDI:: NC_000022.11:31289673:G:A
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31289674G>A, NC_000022.10:g.31685660G>A, NM_052880.5:c.333C>T, NM_052880.4:c.333C>T, NM_001135911.1:c.333C>T

Select item 14754677776.

rs1475467777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:31290988 (GRCh38)
22:31686974 (GRCh37)
Canonical SPDI:: NC_000022.11:31290987:G:A,NC_000022.11:31290987:G:T
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/7 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31290988G>A, NC_000022.11:g.31290988G>T, NC_000022.10:g.31686974G>A, NC_000022.10:g.31686974G>T, NM_052880.5:c.284C>T, NM_052880.5:c.284C>A, NM_052880.4:c.284C>T, NM_052880.4:c.284C>A, NM_001135911.1:c.284C>T, NM_001135911.1:c.284C>A, NP_443112.2:p.Pro95Leu, NP_443112.2:p.Pro95His, NP_001129383.1:p.Pro95Leu, NP_001129383.1:p.Pro95His

Select item 14744893667.

rs1474489366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:31289602 (GRCh38)
22:31685588 (GRCh37)
Canonical SPDI:: NC_000022.11:31289601:G:A,NC_000022.11:31289601:G:C,NC_000022.11:31289601:G:T
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.31289602G>A, NC_000022.11:g.31289602G>C, NC_000022.11:g.31289602G>T, NC_000022.10:g.31685588G>A, NC_000022.10:g.31685588G>C, NC_000022.10:g.31685588G>T, NM_052880.5:c.405C>T, NM_052880.5:c.405C>G, NM_052880.5:c.405C>A, NM_052880.4:c.405C>T, NM_052880.4:c.405C>G, NM_052880.4:c.405C>A, NM_001135911.1:c.405C>T, NM_001135911.1:c.405C>G, NM_001135911.1:c.405C>A, NP_443112.2:p.Asn135Lys, NP_443112.2:p.Asn135Lys, NP_001129383.1:p.Asn135Lys, NP_001129383.1:p.Asn135Lys

Select item 14729569838.

rs1472956983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31289341 (GRCh38)
22:31685327 (GRCh37)
Canonical SPDI:: NC_000022.11:31289340:G:A
Gene:: PIK3IP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31289341G>A, NC_000022.10:g.31685327G>A, NM_052880.5:c.561C>T, NM_052880.4:c.561C>T

Select item 14696219009.

rs1469621900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:31291224 (GRCh38)
22:31687210 (GRCh37)
Canonical SPDI:: NC_000022.11:31291223:T:C
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31291224T>C, NC_000022.10:g.31687210T>C, NM_052880.5:c.143A>G, NM_052880.4:c.143A>G, NM_001135911.1:c.143A>G, NP_443112.2:p.Asn48Ser, NP_001129383.1:p.Asn48Ser

Select item 146829999410.

rs1468299994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:31290965 (GRCh38)
22:31686951 (GRCh37)
Canonical SPDI:: NC_000022.11:31290964:C:T
Gene:: PIK3IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.31290965C>T, NC_000022.10:g.31686951C>T, NM_052880.5:c.307G>A, NM_052880.4:c.307G>A, NM_001135911.1:c.307G>A, NP_443112.2:p.Glu103Lys, NP_001129383.1:p.Glu103Lys

Select item 146534023511.

rs1465340235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31283087 (GRCh38)
22:31679073 (GRCh37)
Canonical SPDI:: NC_000022.11:31283086:G:A
Gene:: PIK3IP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31283087G>A, NC_000022.10:g.31679073G>A, NM_052880.5:c.789C>T, NM_052880.4:c.789C>T, NM_001135911.1:c.*188C>T

Select item 146516049912.

rs1465160499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31289589 (GRCh38)
22:31685575 (GRCh37)
Canonical SPDI:: NC_000022.11:31289588:G:A
Gene:: PIK3IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0002/1 (1000Genomes)
HGVS:: NC_000022.11:g.31289589G>A, NC_000022.10:g.31685575G>A, NM_052880.5:c.418C>T, NM_052880.4:c.418C>T, NM_001135911.1:c.418C>T, NP_443112.2:p.Arg140Trp, NP_001129383.1:p.Arg140Trp

Select item 146255505813.

rs1462555058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:31291184 (GRCh38)
22:31687170 (GRCh37)
Canonical SPDI:: NC_000022.11:31291183:C:A,NC_000022.11:31291183:C:T
Gene:: PIK3IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31291184C>A, NC_000022.11:g.31291184C>T, NC_000022.10:g.31687170C>A, NC_000022.10:g.31687170C>T, NM_052880.5:c.183G>T, NM_052880.5:c.183G>A, NM_052880.4:c.183G>T, NM_052880.4:c.183G>A, NM_001135911.1:c.183G>T, NM_001135911.1:c.183G>A

Select item 146228391014.

rs1462283910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:31289619 (GRCh38)
22:31685605 (GRCh37)
Canonical SPDI:: NC_000022.11:31289618:C:T
Gene:: PIK3IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31289619C>T, NC_000022.10:g.31685605C>T, NM_052880.5:c.388G>A, NM_052880.4:c.388G>A, NM_001135911.1:c.388G>A, NP_443112.2:p.Val130Met, NP_001129383.1:p.Val130Met

Select item 146072915215.

rs1460729152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31290992 (GRCh38)
22:31686978 (GRCh37)
Canonical SPDI:: NC_000022.11:31290991:G:A
Gene:: PIK3IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31290992G>A, NC_000022.10:g.31686978G>A, NM_052880.5:c.280C>T, NM_052880.4:c.280C>T, NM_001135911.1:c.280C>T, NP_443112.2:p.Arg94Trp, NP_001129383.1:p.Arg94Trp

Select item 145941271016.

rs1459412710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:31291065 (GRCh38)
22:31687051 (GRCh37)
Canonical SPDI:: NC_000022.11:31291064:G:A,NC_000022.11:31291064:G:C
Gene:: PIK3IP1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
A=0.000212/4 (TOMMO)
HGVS:: NC_000022.11:g.31291065G>A, NC_000022.11:g.31291065G>C, NC_000022.10:g.31687051G>A, NC_000022.10:g.31687051G>C, NM_052880.5:c.207C>T, NM_052880.5:c.207C>G, NM_052880.4:c.207C>T, NM_052880.4:c.207C>G, NM_001135911.1:c.207C>T, NM_001135911.1:c.207C>G, NP_443112.2:p.Tyr69Ter, NP_001129383.1:p.Tyr69Ter

Select item 144833304117.

rs1448333041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:31291036 (GRCh38)
22:31687022 (GRCh37)
Canonical SPDI:: NC_000022.11:31291035:C:T
Gene:: PIK3IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.31291036C>T, NC_000022.10:g.31687022C>T, NM_052880.5:c.236G>A, NM_052880.4:c.236G>A, NM_001135911.1:c.236G>A, NP_443112.2:p.Gly79Glu, NP_001129383.1:p.Gly79Glu

Select item 144019201018.

rs1440192010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:31283134 (GRCh38)
22:31679120 (GRCh37)
Canonical SPDI:: NC_000022.11:31283133:G:C
Gene:: PIK3IP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31283134G>C, NC_000022.10:g.31679120G>C, NM_052880.5:c.742C>G, NM_052880.4:c.742C>G, NM_001135911.1:c.*141C>G, NP_443112.2:p.Gln248Glu

Select item 143864526619.

rs1438645266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:31292297 (GRCh38)
22:31688283 (GRCh37)
Canonical SPDI:: NC_000022.11:31292296:T:A,NC_000022.11:31292296:T:C
Gene:: PIK3IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.31292297T>A, NC_000022.11:g.31292297T>C, NC_000022.10:g.31688283T>A, NC_000022.10:g.31688283T>C, NM_052880.5:c.48A>T, NM_052880.5:c.48A>G, NM_052880.4:c.48A>T, NM_052880.4:c.48A>G, NM_001135911.1:c.48A>T, NM_001135911.1:c.48A>G

Select item 143778636720.

rs1437786367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:31289558 (GRCh38)
22:31685544 (GRCh37)
Canonical SPDI:: NC_000022.11:31289557:A:G
Gene:: PIK3IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.31289558A>G, NC_000022.10:g.31685544A>G, NM_052880.5:c.449T>C, NM_052880.4:c.449T>C, NM_001135911.1:c.449T>C, NP_443112.2:p.Ile150Thr, NP_001129383.1:p.Ile150Thr