SNP Links for Protein (Select 50409781) - SNP

Links from Protein

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Select item 14878435611.

rs1487843561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:81900063 (GRCh38)
17:79857939 (GRCh37)
Canonical SPDI:: NC_000017.11:81900062:T:C,NC_000017.11:81900062:T:G
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,stop_lost,synonymous_variant,missense_variant,terminator_codon_variant
Validated:: by frequency,by cluster
MAF:: G=0.0016/3 (Korea1K)
HGVS:: NC_000017.11:g.81900063T>C, NC_000017.11:g.81900063T>G, NC_000017.10:g.79857939T>C, NC_000017.10:g.79857939T>G, NM_016476.11:c.253T>C, NM_016476.11:c.253T>G, NM_016476.10:c.253T>C, NM_016476.10:c.253T>G, NM_001002248.3:c.253T>C, NM_001002248.3:c.253T>G, NM_001002248.2:c.253T>C, NM_001002248.2:c.253T>G, NM_001002248.1:c.253T>C, NM_001002248.1:c.253T>G, NM_001002244.2:c.554T>C, NM_001002244.2:c.554T>G, NM_001002244.1:c.554T>C, NM_001002244.1:c.554T>G, NM_001002249.2:c.253T>C, NM_001002249.2:c.253T>G, NM_001002249.1:c.253T>C, NM_001002249.1:c.253T>G, NM_001002246.2:c.253T>C, NM_001002246.2:c.253T>G, NM_001002246.1:c.253T>C, NM_001002246.1:c.253T>G, NM_001002247.2:c.253T>C, NM_001002247.2:c.253T>G, NM_001002247.1:c.253T>C, NM_001002247.1:c.253T>G, NM_001002245.2:c.253T>C, NM_001002245.2:c.253T>G, NM_001002245.1:c.253T>C, NM_001002245.1:c.253T>G, NM_001289420.1:c.339T>C, NM_001289420.1:c.339T>G, NM_001289417.1:c.253T>C, NM_001289417.1:c.253T>G, NM_001289419.1:c.233T>C, NM_001289419.1:c.233T>G, NM_001289416.1:c.253T>C, NM_001289416.1:c.253T>G, NM_001289418.1:c.233T>C, NM_001289418.1:c.233T>G, NM_001289415.1:c.253T>C, NM_001289415.1:c.253T>G, NM_001289414.1:c.253T>C, NM_001289414.1:c.253T>G, NP_057560.8:p.Ter85Arg, NP_057560.8:p.Ter85Gly, NP_001002248.1:p.Ter85Arg, NP_001002248.1:p.Ter85Gly, NP_001002244.1:p.Val185Ala, NP_001002244.1:p.Val185Gly, NP_001002249.1:p.Ter85Arg, NP_001002249.1:p.Ter85Gly, NP_001002246.1:p.Ter85Arg, NP_001002246.1:p.Ter85Gly, NP_001002247.1:p.Ter85Arg, NP_001002247.1:p.Ter85Gly, NP_001002245.1:p.Ter85Arg, NP_001002245.1:p.Ter85Gly, NP_001276349.1:p.Ser113Arg, NP_001276346.1:p.Ter85Arg, NP_001276346.1:p.Ter85Gly, NP_001276345.1:p.Ter85Arg, NP_001276345.1:p.Ter85Gly, NP_001276344.1:p.Ter85Arg, NP_001276344.1:p.Ter85Gly, NP_001276343.1:p.Ter85Arg, NP_001276343.1:p.Ter85Gly

Select item 14844458432.

rs1484445843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81894582 (GRCh38)
17:79852458 (GRCh37)
Canonical SPDI:: NC_000017.11:81894581:T:C
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81894582T>C, NC_000017.10:g.79852458T>C, NM_016476.11:c.105T>C, NM_016476.10:c.105T>C, NM_001002248.3:c.105T>C, NM_001002248.2:c.105T>C, NM_001002248.1:c.105T>C, NM_001002244.2:c.105T>C, NM_001002244.1:c.105T>C, NM_001002249.2:c.105T>C, NM_001002249.1:c.105T>C, NM_001002246.2:c.105T>C, NM_001002246.1:c.105T>C, NM_001002247.2:c.105T>C, NM_001002247.1:c.105T>C, NM_001002245.2:c.105T>C, NM_001002245.1:c.105T>C, NM_001289420.1:c.105T>C, NM_001289417.1:c.105T>C, NM_001289419.1:c.47T>C, NM_001289416.1:c.105T>C, NM_001289418.1:c.47T>C, NM_001289415.1:c.105T>C, NM_001289414.1:c.105T>C

Select item 14632444123.

rs1463244412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81900019 (GRCh38)
17:79857895 (GRCh37)
Canonical SPDI:: NC_000017.11:81900018:A:C
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81900019A>C, NC_000017.10:g.79857895A>C, NM_016476.11:c.209A>C, NM_016476.10:c.209A>C, NM_001002248.3:c.209A>C, NM_001002248.2:c.209A>C, NM_001002248.1:c.209A>C, NM_001002244.2:c.510A>C, NM_001002244.1:c.510A>C, NM_001002249.2:c.209A>C, NM_001002249.1:c.209A>C, NM_001002246.2:c.209A>C, NM_001002246.1:c.209A>C, NM_001002247.2:c.209A>C, NM_001002247.1:c.209A>C, NM_001002245.2:c.209A>C, NM_001002245.1:c.209A>C, NM_001289420.1:c.295A>C, NM_001289417.1:c.209A>C, NM_001289419.1:c.189A>C, NM_001289416.1:c.209A>C, NM_001289418.1:c.189A>C, NM_001289415.1:c.209A>C, NM_001289414.1:c.209A>C, NP_057560.8:p.Gln70Pro, NP_001002248.1:p.Gln70Pro, NP_001002249.1:p.Gln70Pro, NP_001002246.1:p.Gln70Pro, NP_001002247.1:p.Gln70Pro, NP_001002245.1:p.Gln70Pro, NP_001276349.1:p.Ser99Arg, NP_001276346.1:p.Gln70Pro, NP_001276345.1:p.Gln70Pro, NP_001276344.1:p.Gln70Pro, NP_001276343.1:p.Gln70Pro

Select item 14288647244.

rs1428864724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81899983 (GRCh38)
17:79857859 (GRCh37)
Canonical SPDI:: NC_000017.11:81899982:A:G
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81899983A>G, NC_000017.10:g.79857859A>G, NM_016476.11:c.173A>G, NM_016476.10:c.173A>G, NM_001002248.3:c.173A>G, NM_001002248.2:c.173A>G, NM_001002248.1:c.173A>G, NM_001002244.2:c.474A>G, NM_001002244.1:c.474A>G, NM_001002249.2:c.173A>G, NM_001002249.1:c.173A>G, NM_001002246.2:c.173A>G, NM_001002246.1:c.173A>G, NM_001002247.2:c.173A>G, NM_001002247.1:c.173A>G, NM_001002245.2:c.173A>G, NM_001002245.1:c.173A>G, NM_001289420.1:c.259A>G, NM_001289417.1:c.173A>G, NM_001289419.1:c.153A>G, NM_001289416.1:c.173A>G, NM_001289418.1:c.153A>G, NM_001289415.1:c.173A>G, NM_001289414.1:c.173A>G, NP_057560.8:p.His58Arg, NP_001002248.1:p.His58Arg, NP_001002249.1:p.His58Arg, NP_001002246.1:p.His58Arg, NP_001002247.1:p.His58Arg, NP_001002245.1:p.His58Arg, NP_001276349.1:p.Ile87Val, NP_001276346.1:p.His58Arg, NP_001276345.1:p.His58Arg, NP_001276344.1:p.His58Arg, NP_001276343.1:p.His58Arg

Select item 14258745605.

rs1425874560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81894510 (GRCh38)
17:79852386 (GRCh37)
Canonical SPDI:: NC_000017.11:81894509:G:T
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81894510G>T, NC_000017.10:g.79852386G>T, NM_016476.11:c.33G>T, NM_016476.10:c.33G>T, NM_001002248.3:c.33G>T, NM_001002248.2:c.33G>T, NM_001002248.1:c.33G>T, NM_001002244.2:c.33G>T, NM_001002244.1:c.33G>T, NM_001002249.2:c.33G>T, NM_001002249.1:c.33G>T, NM_001002246.2:c.33G>T, NM_001002246.1:c.33G>T, NM_001002247.2:c.33G>T, NM_001002247.1:c.33G>T, NM_001002245.2:c.33G>T, NM_001002245.1:c.33G>T, NM_001289420.1:c.33G>T, NM_001289417.1:c.33G>T, NM_001289419.1:c.-26G>T, NM_001289416.1:c.33G>T, NM_001289418.1:c.-26G>T, NM_001289415.1:c.33G>T, NM_001289414.1:c.33G>T

Select item 14151042406.

rs1415104240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81894550 (GRCh38)
17:79852426 (GRCh37)
Canonical SPDI:: NC_000017.11:81894549:A:G
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81894550A>G, NC_000017.10:g.79852426A>G, NM_016476.11:c.73A>G, NM_016476.10:c.73A>G, NM_001002248.3:c.73A>G, NM_001002248.2:c.73A>G, NM_001002248.1:c.73A>G, NM_001002244.2:c.73A>G, NM_001002244.1:c.73A>G, NM_001002249.2:c.73A>G, NM_001002249.1:c.73A>G, NM_001002246.2:c.73A>G, NM_001002246.1:c.73A>G, NM_001002247.2:c.73A>G, NM_001002247.1:c.73A>G, NM_001002245.2:c.73A>G, NM_001002245.1:c.73A>G, NM_001289420.1:c.73A>G, NM_001289417.1:c.73A>G, NM_001289419.1:c.15A>G, NM_001289416.1:c.73A>G, NM_001289418.1:c.15A>G, NM_001289415.1:c.73A>G, NM_001289414.1:c.73A>G, NP_057560.8:p.Ile25Val, NP_001002248.1:p.Ile25Val, NP_001002244.1:p.Ile25Val, NP_001002249.1:p.Ile25Val, NP_001002246.1:p.Ile25Val, NP_001002247.1:p.Ile25Val, NP_001002245.1:p.Ile25Val, NP_001276349.1:p.Ile25Val, NP_001276346.1:p.Ile25Val, NP_001276345.1:p.Ile25Val, NP_001276344.1:p.Ile25Val, NP_001276343.1:p.Ile25Val

Select item 14119028977.

rs1411902897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81894528 (GRCh38)
17:79852404 (GRCh37)
Canonical SPDI:: NC_000017.11:81894527:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81894528G>A, NC_000017.10:g.79852404G>A, NM_016476.11:c.51G>A, NM_016476.10:c.51G>A, NM_001002248.3:c.51G>A, NM_001002248.2:c.51G>A, NM_001002248.1:c.51G>A, NM_001002244.2:c.51G>A, NM_001002244.1:c.51G>A, NM_001002249.2:c.51G>A, NM_001002249.1:c.51G>A, NM_001002246.2:c.51G>A, NM_001002246.1:c.51G>A, NM_001002247.2:c.51G>A, NM_001002247.1:c.51G>A, NM_001002245.2:c.51G>A, NM_001002245.1:c.51G>A, NM_001289420.1:c.51G>A, NM_001289417.1:c.51G>A, NM_001289419.1:c.-8G>A, NM_001289416.1:c.51G>A, NM_001289418.1:c.-8G>A, NM_001289415.1:c.51G>A, NM_001289414.1:c.51G>A

Select item 14049449928.

rs1404944992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:81894527 (GRCh38)
17:79852403 (GRCh37)
Canonical SPDI:: NC_000017.11:81894526:T:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81894527T>A, NC_000017.10:g.79852403T>A, NM_016476.11:c.50T>A, NM_016476.10:c.50T>A, NM_001002248.3:c.50T>A, NM_001002248.2:c.50T>A, NM_001002248.1:c.50T>A, NM_001002244.2:c.50T>A, NM_001002244.1:c.50T>A, NM_001002249.2:c.50T>A, NM_001002249.1:c.50T>A, NM_001002246.2:c.50T>A, NM_001002246.1:c.50T>A, NM_001002247.2:c.50T>A, NM_001002247.1:c.50T>A, NM_001002245.2:c.50T>A, NM_001002245.1:c.50T>A, NM_001289420.1:c.50T>A, NM_001289417.1:c.50T>A, NM_001289419.1:c.-9T>A, NM_001289416.1:c.50T>A, NM_001289418.1:c.-9T>A, NM_001289415.1:c.50T>A, NM_001289414.1:c.50T>A, NP_057560.8:p.Val17Glu, NP_001002248.1:p.Val17Glu, NP_001002244.1:p.Val17Glu, NP_001002249.1:p.Val17Glu, NP_001002246.1:p.Val17Glu, NP_001002247.1:p.Val17Glu, NP_001002245.1:p.Val17Glu, NP_001276349.1:p.Val17Glu, NP_001276346.1:p.Val17Glu, NP_001276345.1:p.Val17Glu, NP_001276344.1:p.Val17Glu, NP_001276343.1:p.Val17Glu

Select item 13743530029.

rs1374353002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81899995 (GRCh38)
17:79857871 (GRCh37)
Canonical SPDI:: NC_000017.11:81899994:A:G
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81899995A>G, NC_000017.10:g.79857871A>G, NM_016476.11:c.185A>G, NM_016476.10:c.185A>G, NM_001002248.3:c.185A>G, NM_001002248.2:c.185A>G, NM_001002248.1:c.185A>G, NM_001002244.2:c.486A>G, NM_001002244.1:c.486A>G, NM_001002249.2:c.185A>G, NM_001002249.1:c.185A>G, NM_001002246.2:c.185A>G, NM_001002246.1:c.185A>G, NM_001002247.2:c.185A>G, NM_001002247.1:c.185A>G, NM_001002245.2:c.185A>G, NM_001002245.1:c.185A>G, NM_001289420.1:c.271A>G, NM_001289417.1:c.185A>G, NM_001289419.1:c.165A>G, NM_001289416.1:c.185A>G, NM_001289418.1:c.165A>G, NM_001289415.1:c.185A>G, NM_001289414.1:c.185A>G, NP_057560.8:p.Lys62Arg, NP_001002248.1:p.Lys62Arg, NP_001002249.1:p.Lys62Arg, NP_001002246.1:p.Lys62Arg, NP_001002247.1:p.Lys62Arg, NP_001002245.1:p.Lys62Arg, NP_001276349.1:p.Ser91Gly, NP_001276346.1:p.Lys62Arg, NP_001276345.1:p.Lys62Arg, NP_001276344.1:p.Lys62Arg, NP_001276343.1:p.Lys62Arg

Select item 136270556310.

rs1362705563 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCACGCACAGCAGGTGCAGCAGC>- [Show Flanks]
Chromosome:: 17:81900001 (GRCh38)
17:79857877 (GRCh37)
Canonical SPDI:: NC_000017.11:81899998:GCTGCACGCACAGCAGGTGCAGCAGC:GC
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81900001_81900024del, NC_000017.10:g.79857877_79857900del, NM_016476.11:c.191_214del, NM_016476.10:c.191_214del, NM_001002248.3:c.191_214del, NM_001002248.2:c.191_214del, NM_001002248.1:c.191_214del, NM_001002244.2:c.492_515del, NM_001002244.1:c.492_515del, NM_001002249.2:c.191_214del, NM_001002249.1:c.191_214del, NM_001002246.2:c.191_214del, NM_001002246.1:c.191_214del, NM_001002247.2:c.191_214del, NM_001002247.1:c.191_214del, NM_001002245.2:c.191_214del, NM_001002245.1:c.191_214del, NM_001289420.1:c.277_300del, NM_001289417.1:c.191_214del, NM_001289419.1:c.171_194del, NM_001289416.1:c.191_214del, NM_001289418.1:c.171_194del, NM_001289415.1:c.191_214del, NM_001289414.1:c.191_214del, NP_057560.8:p.Leu64_Gln71del, NP_001002248.1:p.Leu64_Gln71del, NP_001002244.1:p.Ala165_Ala172del, NP_001002249.1:p.Leu64_Gln71del, NP_001002246.1:p.Leu64_Gln71del, NP_001002247.1:p.Leu64_Gln71del, NP_001002245.1:p.Leu64_Gln71del, NP_001276349.1:p.Cys93_Ser100del, NP_001276346.1:p.Leu64_Gln71del, NP_001276345.1:p.Leu64_Gln71del, NP_001276344.1:p.Leu64_Gln71del, NP_001276343.1:p.Leu64_Gln71del

Select item 134488682311.

rs1344886823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81894512 (GRCh38)
17:79852388 (GRCh37)
Canonical SPDI:: NC_000017.11:81894511:C:T
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00014/2 (TOMMO)
HGVS:: NC_000017.11:g.81894512C>T, NC_000017.10:g.79852388C>T, NM_016476.11:c.35C>T, NM_016476.10:c.35C>T, NM_001002248.3:c.35C>T, NM_001002248.2:c.35C>T, NM_001002248.1:c.35C>T, NM_001002244.2:c.35C>T, NM_001002244.1:c.35C>T, NM_001002249.2:c.35C>T, NM_001002249.1:c.35C>T, NM_001002246.2:c.35C>T, NM_001002246.1:c.35C>T, NM_001002247.2:c.35C>T, NM_001002247.1:c.35C>T, NM_001002245.2:c.35C>T, NM_001002245.1:c.35C>T, NM_001289420.1:c.35C>T, NM_001289417.1:c.35C>T, NM_001289419.1:c.-24C>T, NM_001289416.1:c.35C>T, NM_001289418.1:c.-24C>T, NM_001289415.1:c.35C>T, NM_001289414.1:c.35C>T, NP_057560.8:p.Ala12Val, NP_001002248.1:p.Ala12Val, NP_001002244.1:p.Ala12Val, NP_001002249.1:p.Ala12Val, NP_001002246.1:p.Ala12Val, NP_001002247.1:p.Ala12Val, NP_001002245.1:p.Ala12Val, NP_001276349.1:p.Ala12Val, NP_001276346.1:p.Ala12Val, NP_001276345.1:p.Ala12Val, NP_001276344.1:p.Ala12Val, NP_001276343.1:p.Ala12Val

Select item 131416430112.

rs1314164301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81899981 (GRCh38)
17:79857857 (GRCh37)
Canonical SPDI:: NC_000017.11:81899980:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81899981G>A, NC_000017.10:g.79857857G>A, NM_016476.11:c.171G>A, NM_016476.10:c.171G>A, NM_001002248.3:c.171G>A, NM_001002248.2:c.171G>A, NM_001002248.1:c.171G>A, NM_001002244.2:c.472G>A, NM_001002244.1:c.472G>A, NM_001002249.2:c.171G>A, NM_001002249.1:c.171G>A, NM_001002246.2:c.171G>A, NM_001002246.1:c.171G>A, NM_001002247.2:c.171G>A, NM_001002247.1:c.171G>A, NM_001002245.2:c.171G>A, NM_001002245.1:c.171G>A, NM_001289420.1:c.257G>A, NM_001289417.1:c.171G>A, NM_001289419.1:c.151G>A, NM_001289416.1:c.171G>A, NM_001289418.1:c.151G>A, NM_001289415.1:c.171G>A, NM_001289414.1:c.171G>A, NP_057560.8:p.Met57Ile, NP_001002248.1:p.Met57Ile, NP_001002244.1:p.Ala158Thr, NP_001002249.1:p.Met57Ile, NP_001002246.1:p.Met57Ile, NP_001002247.1:p.Met57Ile, NP_001002245.1:p.Met57Ile, NP_001276349.1:p.Cys86Tyr, NP_001276346.1:p.Met57Ile, NP_001276345.1:p.Met57Ile, NP_001276344.1:p.Met57Ile, NP_001276343.1:p.Met57Ile

Select item 130096598913.

rs1300965989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81894535 (GRCh38)
17:79852411 (GRCh37)
Canonical SPDI:: NC_000017.11:81894534:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81894535G>A, NC_000017.10:g.79852411G>A, NM_016476.11:c.58G>A, NM_016476.10:c.58G>A, NM_001002248.3:c.58G>A, NM_001002248.2:c.58G>A, NM_001002248.1:c.58G>A, NM_001002244.2:c.58G>A, NM_001002244.1:c.58G>A, NM_001002249.2:c.58G>A, NM_001002249.1:c.58G>A, NM_001002246.2:c.58G>A, NM_001002246.1:c.58G>A, NM_001002247.2:c.58G>A, NM_001002247.1:c.58G>A, NM_001002245.2:c.58G>A, NM_001002245.1:c.58G>A, NM_001289420.1:c.58G>A, NM_001289417.1:c.58G>A, NM_001289419.1:c.-1G>A, NM_001289416.1:c.58G>A, NM_001289418.1:c.-1G>A, NM_001289415.1:c.58G>A, NM_001289414.1:c.58G>A, NP_057560.8:p.Asp20Asn, NP_001002248.1:p.Asp20Asn, NP_001002244.1:p.Asp20Asn, NP_001002249.1:p.Asp20Asn, NP_001002246.1:p.Asp20Asn, NP_001002247.1:p.Asp20Asn, NP_001002245.1:p.Asp20Asn, NP_001276349.1:p.Asp20Asn, NP_001276346.1:p.Asp20Asn, NP_001276345.1:p.Asp20Asn, NP_001276344.1:p.Asp20Asn, NP_001276343.1:p.Asp20Asn

Select item 129075149014.

rs1290751490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81899996 (GRCh38)
17:79857872 (GRCh37)
Canonical SPDI:: NC_000017.11:81899995:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81899996G>A, NC_000017.10:g.79857872G>A, NM_016476.11:c.186G>A, NM_016476.10:c.186G>A, NM_001002248.3:c.186G>A, NM_001002248.2:c.186G>A, NM_001002248.1:c.186G>A, NM_001002244.2:c.487G>A, NM_001002244.1:c.487G>A, NM_001002249.2:c.186G>A, NM_001002249.1:c.186G>A, NM_001002246.2:c.186G>A, NM_001002246.1:c.186G>A, NM_001002247.2:c.186G>A, NM_001002247.1:c.186G>A, NM_001002245.2:c.186G>A, NM_001002245.1:c.186G>A, NM_001289420.1:c.272G>A, NM_001289417.1:c.186G>A, NM_001289419.1:c.166G>A, NM_001289416.1:c.186G>A, NM_001289418.1:c.166G>A, NM_001289415.1:c.186G>A, NM_001289414.1:c.186G>A, NP_001002244.1:p.Val163Met, NP_001276349.1:p.Ser91Asn

Select item 128398955815.

rs1283989558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81900041 (GRCh38)
17:79857917 (GRCh37)
Canonical SPDI:: NC_000017.11:81900040:C:A,NC_000017.11:81900040:C:T
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.81900041C>A, NC_000017.11:g.81900041C>T, NC_000017.10:g.79857917C>A, NC_000017.10:g.79857917C>T, NM_016476.11:c.231C>A, NM_016476.11:c.231C>T, NM_016476.10:c.231C>A, NM_016476.10:c.231C>T, NM_001002248.3:c.231C>A, NM_001002248.3:c.231C>T, NM_001002248.2:c.231C>A, NM_001002248.2:c.231C>T, NM_001002248.1:c.231C>A, NM_001002248.1:c.231C>T, NM_001002244.2:c.532C>A, NM_001002244.2:c.532C>T, NM_001002244.1:c.532C>A, NM_001002244.1:c.532C>T, NM_001002249.2:c.231C>A, NM_001002249.2:c.231C>T, NM_001002249.1:c.231C>A, NM_001002249.1:c.231C>T, NM_001002246.2:c.231C>A, NM_001002246.2:c.231C>T, NM_001002246.1:c.231C>A, NM_001002246.1:c.231C>T, NM_001002247.2:c.231C>A, NM_001002247.2:c.231C>T, NM_001002247.1:c.231C>A, NM_001002247.1:c.231C>T, NM_001002245.2:c.231C>A, NM_001002245.2:c.231C>T, NM_001002245.1:c.231C>A, NM_001002245.1:c.231C>T, NM_001289420.1:c.317C>A, NM_001289420.1:c.317C>T, NM_001289417.1:c.231C>A, NM_001289417.1:c.231C>T, NM_001289419.1:c.211C>A, NM_001289419.1:c.211C>T, NM_001289416.1:c.231C>A, NM_001289416.1:c.231C>T, NM_001289418.1:c.211C>A, NM_001289418.1:c.211C>T, NM_001289415.1:c.231C>A, NM_001289415.1:c.231C>T, NM_001289414.1:c.231C>A, NM_001289414.1:c.231C>T, NP_001002244.1:p.Pro178Thr, NP_001002244.1:p.Pro178Ser, NP_001276349.1:p.Ala106Asp, NP_001276349.1:p.Ala106Val

Select item 127867992216.

rs1278679922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81899927 (GRCh38)
17:79857803 (GRCh37)
Canonical SPDI:: NC_000017.11:81899926:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81899927G>A, NC_000017.10:g.79857803G>A, NM_016476.11:c.117G>A, NM_016476.10:c.117G>A, NM_001002248.3:c.117G>A, NM_001002248.2:c.117G>A, NM_001002248.1:c.117G>A, NM_001002244.2:c.418G>A, NM_001002244.1:c.418G>A, NM_001002249.2:c.117G>A, NM_001002249.1:c.117G>A, NM_001002246.2:c.117G>A, NM_001002246.1:c.117G>A, NM_001002247.2:c.117G>A, NM_001002247.1:c.117G>A, NM_001002245.2:c.117G>A, NM_001002245.1:c.117G>A, NM_001289420.1:c.203G>A, NM_001289417.1:c.117G>A, NM_001289419.1:c.97G>A, NM_001289416.1:c.117G>A, NM_001289418.1:c.97G>A, NM_001289415.1:c.117G>A, NM_001289414.1:c.117G>A, NP_001002244.1:p.Ala140Thr, NP_001276349.1:p.Cys68Tyr

Select item 127458470617.

rs1274584706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81899999 (GRCh38)
17:79857875 (GRCh37)
Canonical SPDI:: NC_000017.11:81899998:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81899999G>A, NC_000017.10:g.79857875G>A, NM_016476.11:c.189G>A, NM_016476.10:c.189G>A, NM_001002248.3:c.189G>A, NM_001002248.2:c.189G>A, NM_001002248.1:c.189G>A, NM_001002244.2:c.490G>A, NM_001002244.1:c.490G>A, NM_001002249.2:c.189G>A, NM_001002249.1:c.189G>A, NM_001002246.2:c.189G>A, NM_001002246.1:c.189G>A, NM_001002247.2:c.189G>A, NM_001002247.1:c.189G>A, NM_001002245.2:c.189G>A, NM_001002245.1:c.189G>A, NM_001289420.1:c.275G>A, NM_001289417.1:c.189G>A, NM_001289419.1:c.169G>A, NM_001289416.1:c.189G>A, NM_001289418.1:c.169G>A, NM_001289415.1:c.189G>A, NM_001289414.1:c.189G>A, NP_057560.8:p.Trp63Ter, NP_001002248.1:p.Trp63Ter, NP_001002244.1:p.Ala164Thr, NP_001002249.1:p.Trp63Ter, NP_001002246.1:p.Trp63Ter, NP_001002247.1:p.Trp63Ter, NP_001002245.1:p.Trp63Ter, NP_001276349.1:p.Gly92Asp, NP_001276346.1:p.Trp63Ter, NP_001276345.1:p.Trp63Ter, NP_001276344.1:p.Trp63Ter, NP_001276343.1:p.Trp63Ter

Select item 126012328418.

rs1260123284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81894563 (GRCh38)
17:79852439 (GRCh37)
Canonical SPDI:: NC_000017.11:81894562:C:T
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81894563C>T, NC_000017.10:g.79852439C>T, NM_016476.11:c.86C>T, NM_016476.10:c.86C>T, NM_001002248.3:c.86C>T, NM_001002248.2:c.86C>T, NM_001002248.1:c.86C>T, NM_001002244.2:c.86C>T, NM_001002244.1:c.86C>T, NM_001002249.2:c.86C>T, NM_001002249.1:c.86C>T, NM_001002246.2:c.86C>T, NM_001002246.1:c.86C>T, NM_001002247.2:c.86C>T, NM_001002247.1:c.86C>T, NM_001002245.2:c.86C>T, NM_001002245.1:c.86C>T, NM_001289420.1:c.86C>T, NM_001289417.1:c.86C>T, NM_001289419.1:c.28C>T, NM_001289416.1:c.86C>T, NM_001289418.1:c.28C>T, NM_001289415.1:c.86C>T, NM_001289414.1:c.86C>T, NP_057560.8:p.Ala29Val, NP_001002248.1:p.Ala29Val, NP_001002244.1:p.Ala29Val, NP_001002249.1:p.Ala29Val, NP_001002246.1:p.Ala29Val, NP_001002247.1:p.Ala29Val, NP_001002245.1:p.Ala29Val, NP_001276349.1:p.Ala29Val, NP_001276346.1:p.Ala29Val, NP_001276345.1:p.Ala29Val, NP_001276344.1:p.Ala29Val, NP_001276343.1:p.Ala29Val

Select item 125455064719.

rs1254550647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81894508 (GRCh38)
17:79852384 (GRCh37)
Canonical SPDI:: NC_000017.11:81894507:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81894508G>A, NC_000017.10:g.79852384G>A, NM_016476.11:c.31G>A, NM_016476.10:c.31G>A, NM_001002248.3:c.31G>A, NM_001002248.2:c.31G>A, NM_001002248.1:c.31G>A, NM_001002244.2:c.31G>A, NM_001002244.1:c.31G>A, NM_001002249.2:c.31G>A, NM_001002249.1:c.31G>A, NM_001002246.2:c.31G>A, NM_001002246.1:c.31G>A, NM_001002247.2:c.31G>A, NM_001002247.1:c.31G>A, NM_001002245.2:c.31G>A, NM_001002245.1:c.31G>A, NM_001289420.1:c.31G>A, NM_001289417.1:c.31G>A, NM_001289419.1:c.-28G>A, NM_001289416.1:c.31G>A, NM_001289418.1:c.-28G>A, NM_001289415.1:c.31G>A, NM_001289414.1:c.31G>A, NP_057560.8:p.Val11Met, NP_001002248.1:p.Val11Met, NP_001002244.1:p.Val11Met, NP_001002249.1:p.Val11Met, NP_001002246.1:p.Val11Met, NP_001002247.1:p.Val11Met, NP_001002245.1:p.Val11Met, NP_001276349.1:p.Val11Met, NP_001276346.1:p.Val11Met, NP_001276345.1:p.Val11Met, NP_001276344.1:p.Val11Met, NP_001276343.1:p.Val11Met

Select item 124009163020.

rs1240091630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81894498 (GRCh38)
17:79852374 (GRCh37)
Canonical SPDI:: NC_000017.11:81894497:C:T
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81894498C>T, NC_000017.10:g.79852374C>T, NM_016476.11:c.21C>T, NM_016476.10:c.21C>T, NM_001002248.3:c.21C>T, NM_001002248.2:c.21C>T, NM_001002248.1:c.21C>T, NM_001002244.2:c.21C>T, NM_001002244.1:c.21C>T, NM_001002249.2:c.21C>T, NM_001002249.1:c.21C>T, NM_001002246.2:c.21C>T, NM_001002246.1:c.21C>T, NM_001002247.2:c.21C>T, NM_001002247.1:c.21C>T, NM_001002245.2:c.21C>T, NM_001002245.1:c.21C>T, NM_001289420.1:c.21C>T, NM_001289417.1:c.21C>T, NM_001289419.1:c.-38C>T, NM_001289416.1:c.21C>T, NM_001289418.1:c.-38C>T, NM_001289415.1:c.21C>T, NM_001289414.1:c.21C>T

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