SNP Links for Protein (Select 307133681) - SNP

Links from Protein

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Select item 14689223511.

rs1468922351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:111902102 (GRCh38)
X:111145330 (GRCh37)
Canonical SPDI:: NC_000023.11:111902101:G:T
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000023.11:g.111902102G>T, NC_000023.10:g.111145330G>T, NG_021215.2:g.185675C>A, NM_001195577.2:c.253G>T, NM_001195577.1:c.253G>T, NM_001195578.2:c.253G>T, NM_001195578.1:c.253G>T, NM_001195576.1:c.253G>T, NR_033260.1:n.918G>T, NP_001182506.1:p.Asp85Tyr, NP_001182507.1:p.Asp85Tyr, NP_001182505.1:p.Asp85Tyr

Select item 14589113602.

rs1458911360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:111902117 (GRCh38)
X:111145345 (GRCh37)
Canonical SPDI:: NC_000023.11:111902116:A:G
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.000042/4 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111902117A>G, NC_000023.10:g.111145345A>G, NG_021215.2:g.185660T>C, NM_001195577.2:c.268A>G, NM_001195577.1:c.268A>G, NM_001195578.2:c.268A>G, NM_001195578.1:c.268A>G, NM_001195576.1:c.268A>G, NR_033260.1:n.933A>G, NP_001182506.1:p.Met90Val, NP_001182507.1:p.Met90Val, NP_001182505.1:p.Met90Val

Select item 14562269593.

rs1456226959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:111902162 (GRCh38)
X:111145390 (GRCh37)
Canonical SPDI:: NC_000023.11:111902161:A:G,NC_000023.11:111902161:A:T
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111902162A>G, NC_000023.11:g.111902162A>T, NC_000023.10:g.111145390A>G, NC_000023.10:g.111145390A>T, NG_021215.2:g.185615T>C, NG_021215.2:g.185615T>A, NM_001195577.2:c.313A>G, NM_001195577.2:c.313A>T, NM_001195577.1:c.313A>G, NM_001195577.1:c.313A>T, NM_001195578.2:c.313A>G, NM_001195578.2:c.313A>T, NM_001195578.1:c.313A>G, NM_001195578.1:c.313A>T, NM_001195576.1:c.313A>G, NM_001195576.1:c.313A>T, NR_033260.1:n.978A>G, NR_033260.1:n.978A>T, NP_001182506.1:p.Asn105Asp, NP_001182506.1:p.Asn105Tyr, NP_001182507.1:p.Asn105Asp, NP_001182507.1:p.Asn105Tyr, NP_001182505.1:p.Asn105Asp, NP_001182505.1:p.Asn105Tyr

Select item 14530127584.

rs1453012758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:111901860 (GRCh38)
X:111145088 (GRCh37)
Canonical SPDI:: NC_000023.11:111901859:T:C
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000025/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111901860T>C, NC_000023.10:g.111145088T>C, NG_021215.2:g.185917A>G, NM_001195577.2:c.11T>C, NM_001195577.1:c.11T>C, NM_001195578.2:c.11T>C, NM_001195578.1:c.11T>C, NM_001195576.1:c.11T>C, NR_033260.1:n.676T>C, NP_001182506.1:p.Val4Ala, NP_001182507.1:p.Val4Ala, NP_001182505.1:p.Val4Ala

Select item 14518971825.

rs1451897182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111902128 (GRCh38)
X:111145356 (GRCh37)
Canonical SPDI:: NC_000023.11:111902127:G:A
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111902128G>A, NC_000023.10:g.111145356G>A, NG_021215.2:g.185649C>T, NM_001195577.2:c.279G>A, NM_001195577.1:c.279G>A, NM_001195578.2:c.279G>A, NM_001195578.1:c.279G>A, NM_001195576.1:c.279G>A, NR_033260.1:n.944G>A, NP_001182506.1:p.Met93Ile, NP_001182507.1:p.Met93Ile, NP_001182505.1:p.Met93Ile

Select item 14446091716.

rs1444609171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111902079 (GRCh38)
X:111145307 (GRCh37)
Canonical SPDI:: NC_000023.11:111902078:G:A
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111902079G>A, NC_000023.10:g.111145307G>A, NG_021215.2:g.185698C>T, NM_001195577.2:c.230G>A, NM_001195577.1:c.230G>A, NM_001195578.2:c.230G>A, NM_001195578.1:c.230G>A, NM_001195576.1:c.230G>A, NR_033260.1:n.895G>A, NP_001182506.1:p.Arg77Lys, NP_001182507.1:p.Arg77Lys, NP_001182505.1:p.Arg77Lys

Select item 14372924357.

rs1437292435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111901980 (GRCh38)
X:111145208 (GRCh37)
Canonical SPDI:: NC_000023.11:111901979:G:A
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111901980G>A, NC_000023.10:g.111145208G>A, NG_021215.2:g.185797C>T, NM_001195577.2:c.131G>A, NM_001195577.1:c.131G>A, NM_001195578.2:c.131G>A, NM_001195578.1:c.131G>A, NM_001195576.1:c.131G>A, NR_033260.1:n.796G>A, NP_001182506.1:p.Gly44Asp, NP_001182507.1:p.Gly44Asp, NP_001182505.1:p.Gly44Asp

Select item 14244475878.

rs1424447587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:111901917 (GRCh38)
X:111145145 (GRCh37)
Canonical SPDI:: NC_000023.11:111901916:T:C,NC_000023.11:111901916:T:G
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD_exomes)
G=0.00004/1 (TOMMO)
HGVS:: NC_000023.11:g.111901917T>C, NC_000023.11:g.111901917T>G, NC_000023.10:g.111145145T>C, NC_000023.10:g.111145145T>G, NG_021215.2:g.185860A>G, NG_021215.2:g.185860A>C, NM_001195577.2:c.68T>C, NM_001195577.2:c.68T>G, NM_001195577.1:c.68T>C, NM_001195577.1:c.68T>G, NM_001195578.2:c.68T>C, NM_001195578.2:c.68T>G, NM_001195578.1:c.68T>C, NM_001195578.1:c.68T>G, NM_001195576.1:c.68T>C, NM_001195576.1:c.68T>G, NR_033260.1:n.733T>C, NR_033260.1:n.733T>G, NP_001182506.1:p.Ile23Thr, NP_001182506.1:p.Ile23Arg, NP_001182507.1:p.Ile23Thr, NP_001182507.1:p.Ile23Arg, NP_001182505.1:p.Ile23Thr, NP_001182505.1:p.Ile23Arg

Select item 14102728219.

rs1410272821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:111902109 (GRCh38)
X:111145337 (GRCh37)
Canonical SPDI:: NC_000023.11:111902108:A:G
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111902109A>G, NC_000023.10:g.111145337A>G, NG_021215.2:g.185668T>C, NM_001195577.2:c.260A>G, NM_001195577.1:c.260A>G, NM_001195578.2:c.260A>G, NM_001195578.1:c.260A>G, NM_001195576.1:c.260A>G, NR_033260.1:n.925A>G, NP_001182506.1:p.Asp87Gly, NP_001182507.1:p.Asp87Gly, NP_001182505.1:p.Asp87Gly

Select item 140920271710.

rs1409202717 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: X:111902077 (GRCh38)
X:111145305 (GRCh37)
Canonical SPDI:: NC_000023.11:111902076:AA:
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111902077_111902078del, NC_000023.10:g.111145305_111145306del, NG_021215.2:g.185699_185700del, NM_001195577.2:c.228_229del, NM_001195577.1:c.228_229del, NM_001195578.2:c.228_229del, NM_001195578.1:c.228_229del, NM_001195576.1:c.228_229del, NR_033260.1:n.893_894del, NP_001182506.1:p.Glu78fs, NP_001182507.1:p.Glu78fs, NP_001182505.1:p.Glu78fs

Select item 140541304211.

rs1405413042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:111902122 (GRCh38)
X:111145350 (GRCh37)
Canonical SPDI:: NC_000023.11:111902121:A:G
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/1 (GnomAD_exomes)
G=0.000029/3 (GnomAD)
G=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.111902122A>G, NC_000023.10:g.111145350A>G, NG_021215.2:g.185655T>C, NM_001195577.2:c.273A>G, NM_001195577.1:c.273A>G, NM_001195578.2:c.273A>G, NM_001195578.1:c.273A>G, NM_001195576.1:c.273A>G, NR_033260.1:n.938A>G

Select item 139922987812.

rs1399229878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:111901961 (GRCh38)
X:111145189 (GRCh37)
Canonical SPDI:: NC_000023.11:111901960:C:A
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111901961C>A, NC_000023.10:g.111145189C>A, NG_021215.2:g.185816G>T, NM_001195577.2:c.112C>A, NM_001195577.1:c.112C>A, NM_001195578.2:c.112C>A, NM_001195578.1:c.112C>A, NM_001195576.1:c.112C>A, NR_033260.1:n.777C>A, NP_001182506.1:p.Pro38Thr, NP_001182507.1:p.Pro38Thr, NP_001182505.1:p.Pro38Thr

Select item 138587734213.

rs1385877342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:111902107 (GRCh38)
X:111145335 (GRCh37)
Canonical SPDI:: NC_000023.11:111902106:A:G
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111902107A>G, NC_000023.10:g.111145335A>G, NG_021215.2:g.185670T>C, NM_001195577.2:c.258A>G, NM_001195577.1:c.258A>G, NM_001195578.2:c.258A>G, NM_001195578.1:c.258A>G, NM_001195576.1:c.258A>G, NR_033260.1:n.923A>G, NP_001182506.1:p.Ile86Met, NP_001182507.1:p.Ile86Met, NP_001182505.1:p.Ile86Met

Select item 138043451214.

rs1380434512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:111901995 (GRCh38)
X:111145223 (GRCh37)
Canonical SPDI:: NC_000023.11:111901994:C:T
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111901995C>T, NC_000023.10:g.111145223C>T, NG_021215.2:g.185782G>A, NM_001195577.2:c.146C>T, NM_001195577.1:c.146C>T, NM_001195578.2:c.146C>T, NM_001195578.1:c.146C>T, NM_001195576.1:c.146C>T, NR_033260.1:n.811C>T, NP_001182506.1:p.Thr49Ile, NP_001182507.1:p.Thr49Ile, NP_001182505.1:p.Thr49Ile

Select item 137383555715.

rs1373835557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111901859 (GRCh38)
X:111145087 (GRCh37)
Canonical SPDI:: NC_000023.11:111901858:G:A
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111901859G>A, NC_000023.10:g.111145087G>A, NG_021215.2:g.185918C>T, NM_001195577.2:c.10G>A, NM_001195577.1:c.10G>A, NM_001195578.2:c.10G>A, NM_001195578.1:c.10G>A, NM_001195576.1:c.10G>A, NR_033260.1:n.675G>A, NP_001182506.1:p.Val4Met, NP_001182507.1:p.Val4Met, NP_001182505.1:p.Val4Met

Select item 135818422916.

rs1358184229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111902018 (GRCh38)
X:111145246 (GRCh37)
Canonical SPDI:: NC_000023.11:111902017:G:A
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.00004/4 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111902018G>A, NC_000023.10:g.111145246G>A, NG_021215.2:g.185759C>T, NM_001195577.2:c.169G>A, NM_001195577.1:c.169G>A, NM_001195578.2:c.169G>A, NM_001195578.1:c.169G>A, NM_001195576.1:c.169G>A, NR_033260.1:n.834G>A, NP_001182506.1:p.Glu57Lys, NP_001182507.1:p.Glu57Lys, NP_001182505.1:p.Glu57Lys

Select item 134204494917.

rs1342044949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:111902145 (GRCh38)
X:111145373 (GRCh37)
Canonical SPDI:: NC_000023.11:111902144:A:C
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
C=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111902145A>C, NC_000023.10:g.111145373A>C, NG_021215.2:g.185632T>G, NM_001195577.2:c.296A>C, NM_001195577.1:c.296A>C, NM_001195578.2:c.296A>C, NM_001195578.1:c.296A>C, NM_001195576.1:c.296A>C, NR_033260.1:n.961A>C, NP_001182506.1:p.Asp99Ala, NP_001182507.1:p.Asp99Ala, NP_001182505.1:p.Asp99Ala

Select item 133968797918.

rs1339687979 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGCAGAAGAGACTG [Show Flanks]
Chromosome:: X:111901982 (GRCh38)
X:111145211 (GRCh37)
Canonical SPDI:: NC_000023.11:111901982:GAGCAGAAGAGACTG:GAGCAGAAGAGACTGGAGCAGAAGAGACTG
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,intron_variant
Validated:: by frequency,by alfa
MAF:: GAGCAGAAGAGACTGGAGCAGAAGAGACTG=0./0 (ALFA)
GAGCAGAAGAGACTG=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.111901983_111901997dup, NC_000023.10:g.111145211_111145225dup, NG_021215.2:g.185780_185794dup, NM_001195577.2:c.134_148dup, NM_001195577.1:c.134_148dup, NM_001195578.2:c.134_148dup, NM_001195578.1:c.134_148dup, NM_001195576.1:c.134_148dup, NR_033260.1:n.799_813dup, NP_001182506.1:p.Glu50_Ala51insGlyAlaGluGluThr, NP_001182507.1:p.Glu50_Ala51insGlyAlaGluGluThr, NP_001182505.1:p.Glu50_Ala51insGlyAlaGluGluThr

Select item 133483494019.

rs1334834940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111902119 (GRCh38)
X:111145347 (GRCh37)
Canonical SPDI:: NC_000023.11:111902118:G:A
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.111902119G>A, NC_000023.10:g.111145347G>A, NG_021215.2:g.185658C>T, NM_001195577.2:c.270G>A, NM_001195577.1:c.270G>A, NM_001195578.2:c.270G>A, NM_001195578.1:c.270G>A, NM_001195576.1:c.270G>A, NR_033260.1:n.935G>A, NP_001182506.1:p.Met90Ile, NP_001182507.1:p.Met90Ile, NP_001182505.1:p.Met90Ile

Select item 133226646320.

rs1332266463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:111902061 (GRCh38)
X:111145289 (GRCh37)
Canonical SPDI:: NC_000023.11:111902060:A:G,NC_000023.11:111902060:A:T
Gene:: TRPC5 (Varview), TRPC5OS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000023.11:g.111902061A>G, NC_000023.11:g.111902061A>T, NC_000023.10:g.111145289A>G, NC_000023.10:g.111145289A>T, NG_021215.2:g.185716T>C, NG_021215.2:g.185716T>A, NM_001195577.2:c.212A>G, NM_001195577.2:c.212A>T, NM_001195577.1:c.212A>G, NM_001195577.1:c.212A>T, NM_001195578.2:c.212A>G, NM_001195578.2:c.212A>T, NM_001195578.1:c.212A>G, NM_001195578.1:c.212A>T, NM_001195576.1:c.212A>G, NM_001195576.1:c.212A>T, NR_033260.1:n.877A>G, NR_033260.1:n.877A>T, NP_001182506.1:p.Asp71Gly, NP_001182506.1:p.Asp71Val, NP_001182507.1:p.Asp71Gly, NP_001182507.1:p.Asp71Val, NP_001182505.1:p.Asp71Gly, NP_001182505.1:p.Asp71Val

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