SNP Links for Protein (Select 4757878) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:110641314 (GRCh38)
2:111398891 (GRCh37)
Canonical SPDI:: NC_000002.12:110641313:C:G
Gene:: BUB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.110641314C>G, NC_000002.11:g.111398891C>G, NG_012048.2:g.41749G>C, NG_012048.1:g.41793G>C, NM_004336.5:c.2776G>C, NM_004336.4:c.2776G>C, NM_001278616.2:c.2716G>C, NM_001278616.1:c.2716G>C, NP_004327.1:p.Gly926Arg, NP_001265545.1:p.Gly906Arg

Select item 14848691077.

rs1484869107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:110661720 (GRCh38)
2:111419297 (GRCh37)
Canonical SPDI:: NC_000002.12:110661719:G:T
Gene:: BUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.110661720G>T, NC_000002.11:g.111419297G>T, NG_012048.2:g.21343C>A, NG_012048.1:g.21386C>A, NM_004336.5:c.1079C>A, NM_004336.4:c.1079C>A, NM_001278616.2:c.1019C>A, NM_001278616.1:c.1019C>A, NM_001278617.2:c.1079C>A, NM_001278617.1:c.1079C>A, XM_047445616.1:c.1079C>A, NP_004327.1:p.Pro360His, NP_001265545.1:p.Pro340His, NP_001265546.1:p.Pro360His, XP_047301572.1:p.Pro360His

Select item 14848468608.

rs1484846860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110642163 (GRCh38)
2:111399740 (GRCh37)
Canonical SPDI:: NC_000002.12:110642162:C:T
Gene:: BUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.110642163C>T, NC_000002.11:g.111399740C>T, NG_012048.2:g.40900G>A, NG_012048.1:g.40944G>A, NM_004336.5:c.2419G>A, NM_004336.4:c.2419G>A, NM_001278616.2:c.2359G>A, NM_001278616.1:c.2359G>A, NM_001278617.2:c.2419G>A, NM_001278617.1:c.2419G>A, XM_047445616.1:c.2419G>A, NP_004327.1:p.Gly807Arg, NP_001265545.1:p.Gly787Arg, NP_001265546.1:p.Gly807Arg, XP_047301572.1:p.Gly807Arg

Select item 14844169539.

rs1484416953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:110669505 (GRCh38)
2:111427082 (GRCh37)
Canonical SPDI:: NC_000002.12:110669504:A:T
Gene:: BUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.110669505A>T, NC_000002.11:g.111427082A>T, NG_012048.2:g.13558T>A, NG_012048.1:g.13603T>A, NM_004336.5:c.515T>A, NM_004336.4:c.515T>A, NM_001278616.2:c.455T>A, NM_001278616.1:c.455T>A, NM_001278617.2:c.515T>A, NM_001278617.1:c.515T>A, XM_047445616.1:c.515T>A, NP_004327.1:p.Ile172Lys, NP_001265545.1:p.Ile152Lys, NP_001265546.1:p.Ile172Lys, XP_047301572.1:p.Ile172Lys

Select item 148344703510.

rs1483447035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110642119 (GRCh38)
2:111399696 (GRCh37)
Canonical SPDI:: NC_000002.12:110642118:C:T
Gene:: BUB1 (Varview)
Functional Consequence:: synonymous_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_000002.12:g.110642119C>T, NC_000002.11:g.111399696C>T, NG_012048.2:g.40944G>A, NG_012048.1:g.40988G>A, NM_004336.5:c.2463G>A, NM_004336.4:c.2463G>A, NM_001278616.2:c.2403G>A, NM_001278616.1:c.2403G>A, NM_001278617.2:c.2463G>A, NM_001278617.1:c.2463G>A, XM_047445616.1:c.2463G>A

Select item 148182868211.

rs1481828682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:110650557 (GRCh38)
2:111408134 (GRCh37)
Canonical SPDI:: NC_000002.12:110650556:A:G
Gene:: BUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.110650557A>G, NC_000002.11:g.111408134A>G, NG_012048.2:g.32506T>C, NG_012048.1:g.32550T>C, NM_004336.5:c.2192T>C, NM_004336.4:c.2192T>C, NM_001278616.2:c.2132T>C, NM_001278616.1:c.2132T>C, NM_001278617.2:c.2192T>C, NM_001278617.1:c.2192T>C, XM_047445616.1:c.2192T>C, NP_004327.1:p.Val731Ala, NP_001265545.1:p.Val711Ala, NP_001265546.1:p.Val731Ala, XP_047301572.1:p.Val731Ala

Select item 148170223612.

rs1481702236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110667560 (GRCh38)
2:111425137 (GRCh37)
Canonical SPDI:: NC_000002.12:110667559:C:T
Gene:: BUB1 (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)
HGVS:: NC_000002.12:g.110667560C>T, NC_000002.11:g.111425137C>T, NG_012048.2:g.15503G>A, NG_012048.1:g.15548G>A, NM_004336.5:c.766G>A, NM_004336.4:c.766G>A, NM_001278616.2:c.706G>A, NM_001278616.1:c.706G>A, NM_001278617.2:c.766G>A, NM_001278617.1:c.766G>A, XM_047445616.1:c.766G>A, NP_004327.1:p.Ala256Thr, NP_001265545.1:p.Ala236Thr, NP_001265546.1:p.Ala256Thr, XP_047301572.1:p.Ala256Thr

Select item 148143844413.

rs1481438444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:110658700 (GRCh38)
2:111416277 (GRCh37)
Canonical SPDI:: NC_000002.12:110658699:G:C
Gene:: BUB1 (Varview), SNORD132 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.110658700G>C, NC_000002.11:g.111416277G>C, NG_012048.2:g.24363C>G, NG_012048.1:g.24406C>G, NM_004336.5:c.1319C>G, NM_004336.4:c.1319C>G, NM_001278616.2:c.1259C>G, NM_001278616.1:c.1259C>G, NM_001278617.2:c.1319C>G, NM_001278617.1:c.1319C>G, XM_047445616.1:c.1319C>G, NP_004327.1:p.Thr440Arg, NP_001265545.1:p.Thr420Arg, NP_001265546.1:p.Thr440Arg, XP_047301572.1:p.Thr440Arg

Select item 147886927714.

rs1478869277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:110638060 (GRCh38)
2:111395637 (GRCh37)
Canonical SPDI:: NC_000002.12:110638059:C:G
Gene:: BUB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.110638060C>G, NC_000002.11:g.111395637C>G, NG_012048.2:g.45003G>C, NG_012048.1:g.45047G>C, NM_004336.5:c.3162G>C, NM_004336.4:c.3162G>C, NM_001278616.2:c.3102G>C, NM_001278616.1:c.3102G>C, NM_001278617.2:c.2991G>C, NM_001278617.1:c.2991G>C

Select item 147582680415.

rs1475826804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:110650753 (GRCh38)
2:111408330 (GRCh37)
Canonical SPDI:: NC_000002.12:110650752:A:C,NC_000002.12:110650752:A:T
Gene:: BUB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.110650753A>C, NC_000002.12:g.110650753A>T, NC_000002.11:g.111408330A>C, NC_000002.11:g.111408330A>T, NG_012048.2:g.32310T>G, NG_012048.2:g.32310T>A, NG_012048.1:g.32354T>G, NG_012048.1:g.32354T>A, NM_004336.5:c.1996T>G, NM_004336.5:c.1996T>A, NM_004336.4:c.1996T>G, NM_004336.4:c.1996T>A, NM_001278616.2:c.1936T>G, NM_001278616.2:c.1936T>A, NM_001278616.1:c.1936T>G, NM_001278616.1:c.1936T>A, NM_001278617.2:c.1996T>G, NM_001278617.2:c.1996T>A, NM_001278617.1:c.1996T>G, NM_001278617.1:c.1996T>A, XM_047445616.1:c.1996T>G, XM_047445616.1:c.1996T>A, NP_004327.1:p.Leu666Val, NP_004327.1:p.Leu666Met, NP_001265545.1:p.Leu646Val, NP_001265545.1:p.Leu646Met, NP_001265546.1:p.Leu666Val, NP_001265546.1:p.Leu666Met, XP_047301572.1:p.Leu666Val, XP_047301572.1:p.Leu666Met

Select item 147582308816.

rs1475823088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110649333 (GRCh38)
2:111406910 (GRCh37)
Canonical SPDI:: NC_000002.12:110649332:G:A
Gene:: BUB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.110649333G>A, NC_000002.11:g.111406910G>A, NG_012048.2:g.33730C>T, NG_012048.1:g.33774C>T, NM_004336.5:c.2248C>T, NM_004336.4:c.2248C>T, NM_001278616.2:c.2188C>T, NM_001278616.1:c.2188C>T, NM_001278617.2:c.2248C>T, NM_001278617.1:c.2248C>T, XM_047445616.1:c.2248C>T, NP_004327.1:p.Leu750Phe, NP_001265545.1:p.Leu730Phe, NP_001265546.1:p.Leu750Phe, XP_047301572.1:p.Leu750Phe

Select item 147573737517.

rs1475737375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:110649373 (GRCh38)
2:111406950 (GRCh37)
Canonical SPDI:: NC_000002.12:110649372:G:A,NC_000002.12:110649372:G:T
Gene:: BUB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.110649373G>A, NC_000002.12:g.110649373G>T, NC_000002.11:g.111406950G>A, NC_000002.11:g.111406950G>T, NG_012048.2:g.33690C>T, NG_012048.2:g.33690C>A, NG_012048.1:g.33734C>T, NG_012048.1:g.33734C>A, NM_004336.5:c.2208C>T, NM_004336.5:c.2208C>A, NM_004336.4:c.2208C>T, NM_004336.4:c.2208C>A, NM_001278616.2:c.2148C>T, NM_001278616.2:c.2148C>A, NM_001278616.1:c.2148C>T, NM_001278616.1:c.2148C>A, NM_001278617.2:c.2208C>T, NM_001278617.2:c.2208C>A, NM_001278617.1:c.2208C>T, NM_001278617.1:c.2208C>A, XM_047445616.1:c.2208C>T, XM_047445616.1:c.2208C>A, NP_004327.1:p.Phe736Leu, NP_001265545.1:p.Phe716Leu, NP_001265546.1:p.Phe736Leu, XP_047301572.1:p.Phe736Leu

Select item 147485388618.

rs1474853886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110641193 (GRCh38)
2:111398770 (GRCh37)
Canonical SPDI:: NC_000002.12:110641192:C:T
Gene:: BUB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,splice_acceptor_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.110641193C>T, NC_000002.11:g.111398770C>T, NG_012048.2:g.41870G>A, NG_012048.1:g.41914G>A, NM_004336.5:c.2796G>A, NM_004336.4:c.2796G>A, NM_001278616.2:c.2736G>A, NM_001278616.1:c.2736G>A