SNP Links for Protein (Select 221625487) - SNP

Links from Protein

Items: 1 to 20 of 314

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Select item 14901042001.

rs1490104200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:81680754 (GRCh38)
8:82592989 (GRCh37)
Canonical SPDI:: NC_000008.11:81680753:C:A
Gene:: IMPA1 (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_000008.11:g.81680754C>A, NC_000008.10:g.82592989C>A, NG_015829.1:g.10601G>T, NM_005536.4:c.93G>T, NM_005536.3:c.93G>T, NM_001144878.2:c.270G>T, NM_001144878.1:c.270G>T, NM_001144879.2:c.93G>T, NM_001144879.1:c.93G>T, NP_005527.1:p.Met31Ile, NP_001138350.1:p.Met90Ile, NP_001138351.1:p.Met31Ile

Select item 14882719042.

rs1488271904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81679190 (GRCh38)
8:82591425 (GRCh37)
Canonical SPDI:: NC_000008.11:81679189:T:C
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.81679190T>C, NC_000008.10:g.82591425T>C, NG_015829.1:g.12165A>G, NM_005536.4:c.238A>G, NM_005536.3:c.238A>G, NM_001144878.2:c.415A>G, NM_001144878.1:c.415A>G, NM_001144879.2:c.238A>G, NM_001144879.1:c.238A>G, NP_005527.1:p.Ile80Val, NP_001138350.1:p.Ile139Val, NP_001138351.1:p.Ile80Val

Select item 14881451943.

rs1488145194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:81660560 (GRCh38)
8:82572795 (GRCh37)
Canonical SPDI:: NC_000008.11:81660559:C:A
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81660560C>A, NC_000008.10:g.82572795C>A, NG_015829.1:g.30795G>T, NM_005536.4:c.674G>T, NM_005536.3:c.674G>T, NM_001144878.2:c.851G>T, NM_001144878.1:c.851G>T, NM_001144879.2:c.565G>T, NM_001144879.1:c.565G>T, NP_005527.1:p.Gly225Val, NP_001138350.1:p.Gly284Val, NP_001138351.1:p.Ala189Ser

Select item 14863082934.

rs1486308293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:81685889 (GRCh38)
8:82598124 (GRCh37)
Canonical SPDI:: NC_000008.11:81685888:C:T
Gene:: IMPA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81685889C>T, NC_000008.10:g.82598124C>T, NG_015829.1:g.5466G>A, NM_001144878.2:c.27G>A, NM_001144878.1:c.27G>A

Select item 14861317595.

rs1486131759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:81681566 (GRCh38)
8:82593801 (GRCh37)
Canonical SPDI:: NC_000008.11:81681565:G:A
Gene:: IMPA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81681566G>A, NC_000008.10:g.82593801G>A, NG_015829.1:g.9789C>T, NM_005536.4:c.-6C>T, NM_005536.3:c.-6C>T, NM_001144878.2:c.172C>T, NM_001144878.1:c.172C>T, NM_001144879.2:c.-6C>T, NM_001144879.1:c.-6C>T, NP_001138350.1:p.Gln58Ter

Select item 14844116766.

rs1484411676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:81680768 (GRCh38)
8:82593003 (GRCh37)
Canonical SPDI:: NC_000008.11:81680767:T:A,NC_000008.11:81680767:T:C
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.81680768T>A, NC_000008.11:g.81680768T>C, NC_000008.10:g.82593003T>A, NC_000008.10:g.82593003T>C, NG_015829.1:g.10587A>T, NG_015829.1:g.10587A>G, NM_005536.4:c.79A>T, NM_005536.4:c.79A>G, NM_005536.3:c.79A>T, NM_005536.3:c.79A>G, NM_001144878.2:c.256A>T, NM_001144878.2:c.256A>G, NM_001144878.1:c.256A>T, NM_001144878.1:c.256A>G, NM_001144879.2:c.79A>T, NM_001144879.2:c.79A>G, NM_001144879.1:c.79A>T, NM_001144879.1:c.79A>G, NP_005527.1:p.Ile27Leu, NP_005527.1:p.Ile27Val, NP_001138350.1:p.Ile86Leu, NP_001138350.1:p.Ile86Val, NP_001138351.1:p.Ile27Leu, NP_001138351.1:p.Ile27Val

Select item 14843397407.

rs1484339740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:81676248 (GRCh38)
8:82588483 (GRCh37)
Canonical SPDI:: NC_000008.11:81676247:C:A
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81676248C>A, NC_000008.10:g.82588483C>A, NG_015829.1:g.15107G>T, NM_005536.4:c.334G>T, NM_005536.3:c.334G>T, NM_001144878.2:c.511G>T, NM_001144878.1:c.511G>T, NM_001144879.2:c.334G>T, NM_001144879.1:c.334G>T, NP_005527.1:p.Ala112Ser, NP_001138350.1:p.Ala171Ser, NP_001138351.1:p.Ala112Ser

Select item 14816679018.

rs1481667901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:81685824 (GRCh38)
8:82598059 (GRCh37)
Canonical SPDI:: NC_000008.11:81685823:G:C
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81685824G>C, NC_000008.10:g.82598059G>C, NG_015829.1:g.5531C>G, NM_001144878.2:c.92C>G, NM_001144878.1:c.92C>G, NP_001138350.1:p.Ala31Gly

Select item 14802610949.

rs1480261094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:81660520 (GRCh38)
8:82572755 (GRCh37)
Canonical SPDI:: NC_000008.11:81660519:A:C,NC_000008.11:81660519:A:G
Gene:: IMPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.81660520A>C, NC_000008.11:g.81660520A>G, NC_000008.10:g.82572755A>C, NC_000008.10:g.82572755A>G, NG_015829.1:g.30835T>G, NG_015829.1:g.30835T>C, NM_005536.4:c.714T>G, NM_005536.4:c.714T>C, NM_005536.3:c.714T>G, NM_005536.3:c.714T>C, NM_001144878.2:c.891T>G, NM_001144878.2:c.891T>C, NM_001144878.1:c.891T>G, NM_001144878.1:c.891T>C, NM_001144879.2:c.*8T>G, NM_001144879.2:c.*8T>C, NM_001144879.1:c.*8T>G, NM_001144879.1:c.*8T>C

Select item 147447191910.

rs1474471919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81659419 (GRCh38)
8:82571654 (GRCh37)
Canonical SPDI:: NC_000008.11:81659418:T:C
Gene:: IMPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_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_000008.11:g.81659419T>C, NC_000008.10:g.82571654T>C, NG_015829.1:g.31936A>G, NM_005536.4:c.766A>G, NM_005536.3:c.766A>G, NM_001144878.2:c.943A>G, NM_001144878.1:c.943A>G, NM_001144879.2:c.*60A>G, NM_001144879.1:c.*60A>G, NP_005527.1:p.Arg256Gly, NP_001138350.1:p.Arg315Gly

Select item 147431600211.

rs1474316002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:81660657 (GRCh38)
8:82572892 (GRCh37)
Canonical SPDI:: NC_000008.11:81660656:C:A
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81660657C>A, NC_000008.10:g.82572892C>A, NG_015829.1:g.30698G>T, NM_005536.4:c.577G>T, NM_005536.3:c.577G>T, NM_001144878.2:c.754G>T, NM_001144878.1:c.754G>T, NM_001144879.2:c.468G>T, NM_001144879.1:c.468G>T, NP_005527.1:p.Val193Phe, NP_001138350.1:p.Val252Phe

Select item 146823690312.

rs1468236903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81681581 (GRCh38)
8:82593816 (GRCh37)
Canonical SPDI:: NC_000008.11:81681580:A:G
Gene:: IMPA1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81681581A>G, NC_000008.10:g.82593816A>G, NG_015829.1:g.9774T>C, NM_005536.4:c.-21T>C, NM_005536.3:c.-21T>C, NM_001144878.2:c.157T>C, NM_001144878.1:c.157T>C, NM_001144879.2:c.-21T>C, NM_001144879.1:c.-21T>C, NP_001138350.1:p.Phe53Leu

Select item 146694224913.

rs1466942249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:81676255 (GRCh38)
8:82588490 (GRCh37)
Canonical SPDI:: NC_000008.11:81676254:A:C
Gene:: IMPA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.81676255A>C, NC_000008.10:g.82588490A>C, NG_015829.1:g.15100T>G, NM_005536.4:c.327T>G, NM_005536.3:c.327T>G, NM_001144878.2:c.504T>G, NM_001144878.1:c.504T>G, NM_001144879.2:c.327T>G, NM_001144879.1:c.327T>G, NP_005527.1:p.Ile109Met, NP_001138350.1:p.Ile168Met, NP_001138351.1:p.Ile109Met

Select item 146230259314.

rs1462302593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81685770 (GRCh38)
8:82598005 (GRCh37)
Canonical SPDI:: NC_000008.11:81685769:T:C
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81685770T>C, NC_000008.10:g.82598005T>C, NG_015829.1:g.5585A>G, NM_001144878.2:c.146A>G, NM_001144878.1:c.146A>G, NP_001138350.1:p.Lys49Arg

Select item 146013271915.

rs1460132719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:81685777 (GRCh38)
8:82598012 (GRCh37)
Canonical SPDI:: NC_000008.11:81685776:A:C
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81685777A>C, NC_000008.10:g.82598012A>C, NG_015829.1:g.5578T>G, NM_001144878.2:c.139T>G, NM_001144878.1:c.139T>G, NP_001138350.1:p.Phe47Val

Select item 145633670916.

rs1456336709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:81660660 (GRCh38)
8:82572895 (GRCh37)
Canonical SPDI:: NC_000008.11:81660659:T:G
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81660660T>G, NC_000008.10:g.82572895T>G, NG_015829.1:g.30695A>C, NM_005536.4:c.574A>C, NM_005536.3:c.574A>C, NM_001144878.2:c.751A>C, NM_001144878.1:c.751A>C, NM_001144879.2:c.465A>C, NM_001144879.1:c.465A>C, NP_005527.1:p.Ser192Arg, NP_001138350.1:p.Ser251Arg

Select item 145395404217.

rs1453954042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:81681504 (GRCh38)
8:82593739 (GRCh37)
Canonical SPDI:: NC_000008.11:81681503:A:C
Gene:: IMPA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.81681504A>C, NC_000008.10:g.82593739A>C, NG_015829.1:g.9851T>G, NM_005536.4:c.57T>G, NM_005536.3:c.57T>G, NM_001144878.2:c.234T>G, NM_001144878.1:c.234T>G, NM_001144879.2:c.57T>G, NM_001144879.1:c.57T>G

Select item 144283522218.

rs1442835222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81673904 (GRCh38)
8:82586139 (GRCh37)
Canonical SPDI:: NC_000008.11:81673903:T:C
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000016/4 (GnomAD_exomes)
C=0.000076/20 (TOPMED)
C=0.000093/13 (GnomAD)
HGVS:: NC_000008.11:g.81673904T>C, NC_000008.10:g.82586139T>C, NG_015829.1:g.17451A>G, NM_005536.4:c.394A>G, NM_005536.3:c.394A>G, NM_001144878.2:c.571A>G, NM_001144878.1:c.571A>G, NM_001144879.2:c.394A>G, NM_001144879.1:c.394A>G, NP_005527.1:p.Thr132Ala, NP_001138350.1:p.Thr191Ala, NP_001138351.1:p.Thr132Ala

Select item 144207687619.

rs1442076876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:81673882 (GRCh38)
8:82586117 (GRCh37)
Canonical SPDI:: NC_000008.11:81673881:G:A,NC_000008.11:81673881:G:C,NC_000008.11:81673881:G:T
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81673882G>A, NC_000008.11:g.81673882G>C, NC_000008.11:g.81673882G>T, NC_000008.10:g.82586117G>A, NC_000008.10:g.82586117G>C, NC_000008.10:g.82586117G>T, NG_015829.1:g.17473C>T, NG_015829.1:g.17473C>G, NG_015829.1:g.17473C>A, NM_005536.4:c.416C>T, NM_005536.4:c.416C>G, NM_005536.4:c.416C>A, NM_005536.3:c.416C>T, NM_005536.3:c.416C>G, NM_005536.3:c.416C>A, NM_001144878.2:c.593C>T, NM_001144878.2:c.593C>G, NM_001144878.2:c.593C>A, NM_001144878.1:c.593C>T, NM_001144878.1:c.593C>G, NM_001144878.1:c.593C>A, NM_001144879.2:c.416C>T, NM_001144879.2:c.416C>G, NM_001144879.2:c.416C>A, NM_001144879.1:c.416C>T, NM_001144879.1:c.416C>G, NM_001144879.1:c.416C>A, NP_005527.1:p.Ala139Val, NP_005527.1:p.Ala139Gly, NP_005527.1:p.Ala139Asp, NP_001138350.1:p.Ala198Val, NP_001138350.1:p.Ala198Gly, NP_001138350.1:p.Ala198Asp, NP_001138351.1:p.Ala139Val, NP_001138351.1:p.Ala139Gly, NP_001138351.1:p.Ala139Asp

Select item 143716319220.

rs1437163192 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAGTTA>- [Show Flanks]
Chromosome:: 8:81680713 (GRCh38)
8:82592948 (GRCh37)
Canonical SPDI:: NC_000008.11:81680710:TAGCAGTTA:TA
Gene:: IMPA1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81680713_81680719del, NC_000008.10:g.82592948_82592954del, NG_015829.1:g.10638_10644del, NM_005536.4:c.130_136del, NM_005536.3:c.130_136del, NM_001144878.2:c.307_313del, NM_001144878.1:c.307_313del, NM_001144879.2:c.130_136del, NM_001144879.1:c.130_136del, NP_005527.1:p.Thr44fs, NP_001138350.1:p.Thr103fs, NP_001138351.1:p.Thr44fs

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