SNP Links for Protein (Select 323362983) - SNP

Links from Protein

Items: 1 to 20 of 698

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Select item 14883147681.

rs1488314768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:118389888 (GRCh38)
11:118260603 (GRCh37)
Canonical SPDI:: NC_000011.10:118389887:T:G
Gene:: UBE4A (Varview), LOC100131626 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118389888T>G, NC_000011.9:g.118260603T>G, NG_047106.1:g.35308T>G, NM_004788.4:c.2772T>G, NM_004788.3:c.2772T>G, NM_001204077.2:c.2751T>G, NM_001204077.1:c.2751T>G, NW_003871072.2:g.15326T>G

Select item 14833334702.

rs1483333470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:118373615 (GRCh38)
11:118244330 (GRCh37)
Canonical SPDI:: NC_000011.10:118373614:A:G,NC_000011.10:118373614:A:T
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118373615A>G, NC_000011.10:g.118373615A>T, NC_000011.9:g.118244330A>G, NC_000011.9:g.118244330A>T, NG_047106.1:g.19035A>G, NG_047106.1:g.19035A>T, NM_004788.4:c.1067A>G, NM_004788.4:c.1067A>T, NM_004788.3:c.1067A>G, NM_004788.3:c.1067A>T, NM_001204077.2:c.1046A>G, NM_001204077.2:c.1046A>T, NM_001204077.1:c.1046A>G, NM_001204077.1:c.1046A>T, NP_004779.2:p.His356Arg, NP_004779.2:p.His356Leu, NP_001191006.1:p.His349Arg, NP_001191006.1:p.His349Leu

Select item 14822022353.

rs1482202235 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTATATTTTTA [Show Flanks]
Chromosome:: 11:118371518 (GRCh38)
11:118242234 (GRCh37)
Canonical SPDI:: NC_000011.10:118371518::G,NC_000011.10:118371518::GTATATTTTTA
Gene:: UBE4A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.118371518_118371519insG, NC_000011.10:g.118371518_118371519insGTATATTTTTA, NC_000011.9:g.118242233_118242234insG, NC_000011.9:g.118242233_118242234insGTATATTTTTA, NG_047106.1:g.16938_16939insG, NG_047106.1:g.16938_16939insGTATATTTTTA, NM_004788.4:c.413_414insG, NM_004788.4:c.413_414insGTATATTTTTA, NM_004788.3:c.413_414insG, NM_004788.3:c.413_414insGTATATTTTTA, NM_001204077.2:c.413_414insG, NM_001204077.2:c.413_414insGTATATTTTTA, NM_001204077.1:c.413_414insG, NM_001204077.1:c.413_414insGTATATTTTTA, NP_004779.2:p.Phe139fs, NP_004779.2:p.Phe139fs, NP_001191006.1:p.Phe139fs, NP_001191006.1:p.Phe139fs

Select item 14813509054.

rs1481350905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:118368661 (GRCh38)
11:118239376 (GRCh37)
Canonical SPDI:: NC_000011.10:118368660:A:C
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118368661A>C, NC_000011.9:g.118239376A>C, NG_047106.1:g.14081A>C, NM_004788.4:c.152A>C, NM_004788.3:c.152A>C, NM_001204077.2:c.152A>C, NM_001204077.1:c.152A>C, NP_004779.2:p.Asp51Ala, NP_001191006.1:p.Asp51Ala

Select item 14806381465.

rs1480638146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118379508 (GRCh38)
11:118250223 (GRCh37)
Canonical SPDI:: NC_000011.10:118379507:A:G
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.006004/11 (Korea1K)
HGVS:: NC_000011.10:g.118379508A>G, NC_000011.9:g.118250223A>G, NG_047106.1:g.24928A>G, NM_004788.4:c.1655A>G, NM_004788.3:c.1655A>G, NM_001204077.2:c.1634A>G, NM_001204077.1:c.1634A>G, NW_003871072.2:g.4946A>G, NP_004779.2:p.Asp552Gly, NP_001191006.1:p.Asp545Gly

Select item 14786934686.

rs1478693468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118379645 (GRCh38)
11:118250360 (GRCh37)
Canonical SPDI:: NC_000011.10:118379644:A:G
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.118379645A>G, NC_000011.9:g.118250360A>G, NG_047106.1:g.25065A>G, NM_004788.4:c.1792A>G, NM_004788.3:c.1792A>G, NM_001204077.2:c.1771A>G, NM_001204077.1:c.1771A>G, NW_003871072.2:g.5083A>G, NP_004779.2:p.Met598Val, NP_001191006.1:p.Met591Val

Select item 14771093317.

rs1477109331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118381480 (GRCh38)
11:118252195 (GRCh37)
Canonical SPDI:: NC_000011.10:118381479:C:T
Gene:: UBE4A (Varview), LOC100131626 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118381480C>T, NC_000011.9:g.118252195C>T, NG_047106.1:g.26900C>T, NM_004788.4:c.1987C>T, NM_004788.3:c.1987C>T, NM_001204077.2:c.1966C>T, NM_001204077.1:c.1966C>T, NW_003871072.2:g.6918C>T, NR_046369.1:n.312G>A, NR_046370.1:n.259G>A, NP_004779.2:p.His663Tyr, NP_001191006.1:p.His656Tyr

Select item 14758895968.

rs1475889596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:118375063 (GRCh38)
11:118245778 (GRCh37)
Canonical SPDI:: NC_000011.10:118375062:G:A,NC_000011.10:118375062:G:C
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.118375063G>A, NC_000011.10:g.118375063G>C, NC_000011.9:g.118245778G>A, NC_000011.9:g.118245778G>C, NG_047106.1:g.20483G>A, NG_047106.1:g.20483G>C, NM_004788.4:c.1305G>A, NM_004788.4:c.1305G>C, NM_004788.3:c.1305G>A, NM_004788.3:c.1305G>C, NM_001204077.2:c.1284G>A, NM_001204077.2:c.1284G>C, NM_001204077.1:c.1284G>A, NM_001204077.1:c.1284G>C, NW_003871072.2:g.501G>A, NW_003871072.2:g.501G>C, NP_004779.2:p.Met435Ile, NP_004779.2:p.Met435Ile, NP_001191006.1:p.Met428Ile, NP_001191006.1:p.Met428Ile

Select item 14751248449.

rs1475124844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118379669 (GRCh38)
11:118250384 (GRCh37)
Canonical SPDI:: NC_000011.10:118379668:G:A
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.118379669G>A, NC_000011.9:g.118250384G>A, NG_047106.1:g.25089G>A, NM_004788.4:c.1816G>A, NM_004788.3:c.1816G>A, NM_001204077.2:c.1795G>A, NM_001204077.1:c.1795G>A, NW_003871072.2:g.5107G>A, NP_004779.2:p.Ala606Thr, NP_001191006.1:p.Ala599Thr

Select item 147474383510.

rs1474743835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118376637 (GRCh38)
11:118247352 (GRCh37)
Canonical SPDI:: NC_000011.10:118376636:A:G
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118376637A>G, NC_000011.9:g.118247352A>G, NG_047106.1:g.22057A>G, NM_004788.4:c.1535A>G, NM_004788.3:c.1535A>G, NM_001204077.2:c.1514A>G, NM_001204077.1:c.1514A>G, NW_003871072.2:g.2075A>G, NP_004779.2:p.Asn512Ser, NP_001191006.1:p.Asn505Ser

Select item 147310452411.

rs1473104524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118386464 (GRCh38)
11:118257179 (GRCh37)
Canonical SPDI:: NC_000011.10:118386463:A:G
Gene:: UBE4A (Varview), LOC100131626 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118386464A>G, NC_000011.9:g.118257179A>G, NG_047106.1:g.31884A>G, NM_004788.4:c.2460A>G, NM_004788.3:c.2460A>G, NM_001204077.2:c.2439A>G, NM_001204077.1:c.2439A>G, NW_003871072.2:g.11902A>G

Select item 147254619612.

rs1472546196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:118384943 (GRCh38)
11:118255658 (GRCh37)
Canonical SPDI:: NC_000011.10:118384942:C:A
Gene:: UBE4A (Varview), LOC100131626 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00101/12 (ALFA)
A=0.00265/75 (TOMMO)
A=0.01745/51 (KOREAN)
HGVS:: NC_000011.10:g.118384943C>A, NC_000011.9:g.118255658C>A, NG_047106.1:g.30363C>A, NM_004788.4:c.2431C>A, NM_004788.3:c.2431C>A, NM_001204077.2:c.2410C>A, NM_001204077.1:c.2410C>A, NW_003871072.2:g.10381C>A, NP_004779.2:p.Gln811Lys, NP_001191006.1:p.Gln804Lys

Select item 147213455613.

rs1472134556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118368689 (GRCh38)
11:118239404 (GRCh37)
Canonical SPDI:: NC_000011.10:118368688:A:G
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118368689A>G, NC_000011.9:g.118239404A>G, NG_047106.1:g.14109A>G, NM_004788.4:c.180A>G, NM_004788.3:c.180A>G, NM_001204077.2:c.180A>G, NM_001204077.1:c.180A>G

Select item 147074696514.

rs1470746965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:118371550 (GRCh38)
11:118242265 (GRCh37)
Canonical SPDI:: NC_000011.10:118371549:A:T
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.118371550A>T, NC_000011.9:g.118242265A>T, NG_047106.1:g.16970A>T, NM_004788.4:c.445A>T, NM_004788.3:c.445A>T, NM_001204077.2:c.445A>T, NM_001204077.1:c.445A>T, NP_004779.2:p.Asn149Tyr, NP_001191006.1:p.Asn149Tyr

Select item 147049876615.

rs1470498766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118373134 (GRCh38)
11:118243849 (GRCh37)
Canonical SPDI:: NC_000011.10:118373133:T:C
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118373134T>C, NC_000011.9:g.118243849T>C, NG_047106.1:g.18554T>C, NM_004788.4:c.791T>C, NM_004788.3:c.791T>C, NM_001204077.2:c.770T>C, NM_001204077.1:c.770T>C, NP_004779.2:p.Ile264Thr, NP_001191006.1:p.Ile257Thr

Select item 146941688616.

rs1469416886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118373186 (GRCh38)
11:118243901 (GRCh37)
Canonical SPDI:: NC_000011.10:118373185:T:C
Gene:: UBE4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118373186T>C, NC_000011.9:g.118243901T>C, NG_047106.1:g.18606T>C, NM_004788.4:c.843T>C, NM_004788.3:c.843T>C, NM_001204077.2:c.822T>C, NM_001204077.1:c.822T>C

Select item 146808474217.

rs1468084742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:118373651 (GRCh38)
11:118244366 (GRCh37)
Canonical SPDI:: NC_000011.10:118373650:A:C,NC_000011.10:118373650:A:G
Gene:: UBE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
C=0.001092/2 (Korea1K)
HGVS:: NC_000011.10:g.118373651A>C, NC_000011.10:g.118373651A>G, NC_000011.9:g.118244366A>C, NC_000011.9:g.118244366A>G, NG_047106.1:g.19071A>C, NG_047106.1:g.19071A>G, NM_004788.4:c.1103A>C, NM_004788.4:c.1103A>G, NM_004788.3:c.1103A>C, NM_004788.3:c.1103A>G, NM_001204077.2:c.1082A>C, NM_001204077.2:c.1082A>G, NM_001204077.1:c.1082A>C, NM_001204077.1:c.1082A>G, NP_004779.2:p.Gln368Pro, NP_004779.2:p.Gln368Arg, NP_001191006.1:p.Gln361Pro, NP_001191006.1:p.Gln361Arg

Select item 146746841218.

rs1467468412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:118382592 (GRCh38)
11:118253307 (GRCh37)
Canonical SPDI:: NC_000011.10:118382591:G:T
Gene:: UBE4A (Varview), LOC100131626 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118382592G>T, NC_000011.9:g.118253307G>T, NG_047106.1:g.28012G>T, NM_004788.4:c.2034G>T, NM_004788.3:c.2034G>T, NM_001204077.2:c.2013G>T, NM_001204077.1:c.2013G>T, NW_003871072.2:g.8030G>T, NP_004779.2:p.Met678Ile, NP_001191006.1:p.Met671Ile

Select item 146536741319.

rs1465367413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:118374995 (GRCh38)
11:118245710 (GRCh37)
Canonical SPDI:: NC_000011.10:118374994:T:A
Gene:: UBE4A (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118374995T>A, NC_000011.9:g.118245710T>A, NG_047106.1:g.20415T>A, NM_004788.4:c.1237T>A, NM_004788.3:c.1237T>A, NM_001204077.2:c.1216T>A, NM_001204077.1:c.1216T>A, NW_003871072.2:g.433T>A, NP_004779.2:p.Cys413Ser, NP_001191006.1:p.Cys406Ser

Select item 146424035420.

rs1464240354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:118384903 (GRCh38)
11:118255618 (GRCh37)
Canonical SPDI:: NC_000011.10:118384902:G:T
Gene:: UBE4A (Varview), LOC100131626 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.118384903G>T, NC_000011.9:g.118255618G>T, NG_047106.1:g.30323G>T, NM_004788.4:c.2391G>T, NM_004788.3:c.2391G>T, NM_001204077.2:c.2370G>T, NM_001204077.1:c.2370G>T, NW_003871072.2:g.10341G>T

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