SNP Links for Protein (Select 8923758) - SNP

Links from Protein

Items: 1 to 20 of 312

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Select item 14892045781.

rs1489204578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:104757153 (GRCh38)
12:105150931 (GRCh37)
Canonical SPDI:: NC_000012.12:104757152:G:A
Gene:: CHST11 (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=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.104757153G>A, NC_000012.11:g.105150931G>A, NG_029810.2:g.305240G>A, NM_018413.6:c.409G>A, NM_018413.5:c.409G>A, NM_001173982.2:c.394G>A, NM_001173982.1:c.394G>A, XM_047428914.1:c.172G>A, XM_047428915.1:c.172G>A, NP_060883.1:p.Val137Ile, NP_001167453.1:p.Val132Ile, XP_047284870.1:p.Val58Ile, XP_047284871.1:p.Val58Ile

Select item 14890928282.

rs1489092828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:104757504 (GRCh38)
12:105151282 (GRCh37)
Canonical SPDI:: NC_000012.12:104757503:C:A,NC_000012.12:104757503:C:G,NC_000012.12:104757503:C:T
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.104757504C>A, NC_000012.12:g.104757504C>G, NC_000012.12:g.104757504C>T, NC_000012.11:g.105151282C>A, NC_000012.11:g.105151282C>G, NC_000012.11:g.105151282C>T, NG_029810.2:g.305591C>A, NG_029810.2:g.305591C>G, NG_029810.2:g.305591C>T, NM_018413.6:c.760C>A, NM_018413.6:c.760C>G, NM_018413.6:c.760C>T, NM_018413.5:c.760C>A, NM_018413.5:c.760C>G, NM_018413.5:c.760C>T, NM_001173982.2:c.745C>A, NM_001173982.2:c.745C>G, NM_001173982.2:c.745C>T, NM_001173982.1:c.745C>A, NM_001173982.1:c.745C>G, NM_001173982.1:c.745C>T, XM_047428914.1:c.523C>A, XM_047428914.1:c.523C>G, XM_047428914.1:c.523C>T, XM_047428915.1:c.523C>A, XM_047428915.1:c.523C>G, XM_047428915.1:c.523C>T, NP_060883.1:p.Pro254Thr, NP_060883.1:p.Pro254Ala, NP_060883.1:p.Pro254Ser, NP_001167453.1:p.Pro249Thr, NP_001167453.1:p.Pro249Ala, NP_001167453.1:p.Pro249Ser, XP_047284870.1:p.Pro175Thr, XP_047284870.1:p.Pro175Ala, XP_047284870.1:p.Pro175Ser, XP_047284871.1:p.Pro175Thr, XP_047284871.1:p.Pro175Ala, XP_047284871.1:p.Pro175Ser

Select item 14876314903.

rs1487631490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:104757797 (GRCh38)
12:105151575 (GRCh37)
Canonical SPDI:: NC_000012.12:104757796:G:A
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.104757797G>A, NC_000012.11:g.105151575G>A, NG_029810.2:g.305884G>A, NM_018413.6:c.1053G>A, NM_018413.5:c.1053G>A, NM_001173982.2:c.1038G>A, NM_001173982.1:c.1038G>A, XM_047428914.1:c.816G>A, XM_047428915.1:c.816G>A

Select item 14866645134.

rs1486664513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:104457458 (GRCh38)
12:104851236 (GRCh37)
Canonical SPDI:: NC_000012.12:104457457:G:A
Gene:: CHST11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104457458G>A, NC_000012.11:g.104851236G>A, NG_029810.2:g.5545G>A, NM_018413.6:c.47G>A, NM_018413.5:c.47G>A, NM_001173982.2:c.47G>A, NM_001173982.1:c.47G>A, XM_047428914.1:c.-105G>A, XM_047428915.1:c.-90G>A, NP_060883.1:p.Arg16Gln, NP_001167453.1:p.Arg16Gln

Select item 14820695415.

rs1482069541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:104757621 (GRCh38)
12:105151399 (GRCh37)
Canonical SPDI:: NC_000012.12:104757620:G:T
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104757621G>T, NC_000012.11:g.105151399G>T, NG_029810.2:g.305708G>T, NM_018413.6:c.877G>T, NM_018413.5:c.877G>T, NM_001173982.2:c.862G>T, NM_001173982.1:c.862G>T, XM_047428914.1:c.640G>T, XM_047428915.1:c.640G>T, NP_060883.1:p.Ala293Ser, NP_001167453.1:p.Ala288Ser, XP_047284870.1:p.Ala214Ser, XP_047284871.1:p.Ala214Ser

Select item 14812817016.

rs1481281701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:104757465 (GRCh38)
12:105151243 (GRCh37)
Canonical SPDI:: NC_000012.12:104757464:G:A
Gene:: CHST11 (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_000012.12:g.104757465G>A, NC_000012.11:g.105151243G>A, NG_029810.2:g.305552G>A, NM_018413.6:c.721G>A, NM_018413.5:c.721G>A, NM_001173982.2:c.706G>A, NM_001173982.1:c.706G>A, XM_047428914.1:c.484G>A, XM_047428915.1:c.484G>A, NP_060883.1:p.Val241Met, NP_001167453.1:p.Val236Met, XP_047284870.1:p.Val162Met, XP_047284871.1:p.Val162Met

Select item 14796737457.

rs1479673745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:104457435 (GRCh38)
12:104851213 (GRCh37)
Canonical SPDI:: NC_000012.12:104457434:G:C
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_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_000012.12:g.104457435G>C, NC_000012.11:g.104851213G>C, NG_029810.2:g.5522G>C, NM_018413.6:c.24G>C, NM_018413.5:c.24G>C, NM_001173982.2:c.24G>C, NM_001173982.1:c.24G>C, XM_047428914.1:c.-128G>C, XM_047428915.1:c.-113G>C

Select item 14733020198.

rs1473302019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:104757519 (GRCh38)
12:105151297 (GRCh37)
Canonical SPDI:: NC_000012.12:104757518:T:C
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104757519T>C, NC_000012.11:g.105151297T>C, NG_029810.2:g.305606T>C, NM_018413.6:c.775T>C, NM_018413.5:c.775T>C, NM_001173982.2:c.760T>C, NM_001173982.1:c.760T>C, XM_047428914.1:c.538T>C, XM_047428915.1:c.538T>C, NP_060883.1:p.Trp259Arg, NP_001167453.1:p.Trp254Arg, XP_047284870.1:p.Trp180Arg, XP_047284871.1:p.Trp180Arg

Select item 14696396469.

rs1469639646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104757098 (GRCh38)
12:105150876 (GRCh37)
Canonical SPDI:: NC_000012.12:104757097:C:T
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.104757098C>T, NC_000012.11:g.105150876C>T, NG_029810.2:g.305185C>T, NM_018413.6:c.354C>T, NM_018413.5:c.354C>T, NM_001173982.2:c.339C>T, NM_001173982.1:c.339C>T, XM_047428914.1:c.117C>T, XM_047428915.1:c.117C>T

Select item 146923254210.

rs1469232542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:104601917 (GRCh38)
12:104995695 (GRCh37)
Canonical SPDI:: NC_000012.12:104601916:A:T
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104601917A>T, NC_000012.11:g.104995695A>T, NG_029810.2:g.150004A>T, NM_018413.6:c.130A>T, NM_018413.5:c.130A>T, NM_001173982.2:c.115A>T, NM_001173982.1:c.115A>T, NP_060883.1:p.Asn44Tyr, NP_001167453.1:p.Asn39Tyr

Select item 146613397211.

rs1466133972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104757375 (GRCh38)
12:105151153 (GRCh37)
Canonical SPDI:: NC_000012.12:104757374:C:T
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104757375C>T, NC_000012.11:g.105151153C>T, NG_029810.2:g.305462C>T, NM_018413.6:c.631C>T, NM_018413.5:c.631C>T, NM_001173982.2:c.616C>T, NM_001173982.1:c.616C>T, XM_047428914.1:c.394C>T, XM_047428915.1:c.394C>T, NP_060883.1:p.Arg211Trp, NP_001167453.1:p.Arg206Trp, XP_047284870.1:p.Arg132Trp, XP_047284871.1:p.Arg132Trp

Select item 146526554812.

rs1465265548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:104756997 (GRCh38)
12:105150775 (GRCh37)
Canonical SPDI:: NC_000012.12:104756996:G:T
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.104756997G>T, NC_000012.11:g.105150775G>T, NG_029810.2:g.305084G>T, NM_018413.6:c.253G>T, NM_018413.5:c.253G>T, NM_001173982.2:c.238G>T, NM_001173982.1:c.238G>T, XM_047428914.1:c.16G>T, XM_047428915.1:c.16G>T, NP_060883.1:p.Val85Leu, NP_001167453.1:p.Val80Leu, XP_047284870.1:p.Val6Leu, XP_047284871.1:p.Val6Leu

Select item 146514560113.

rs1465145601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104757005 (GRCh38)
12:105150783 (GRCh37)
Canonical SPDI:: NC_000012.12:104757004:C:T
Gene:: CHST11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.104757005C>T, NC_000012.11:g.105150783C>T, NG_029810.2:g.305092C>T, NM_018413.6:c.261C>T, NM_018413.5:c.261C>T, NM_001173982.2:c.246C>T, NM_001173982.1:c.246C>T, XM_047428914.1:c.24C>T, XM_047428915.1:c.24C>T

Select item 146276689214.

rs1462766892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104757134 (GRCh38)
12:105150912 (GRCh37)
Canonical SPDI:: NC_000012.12:104757133:C:T
Gene:: CHST11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.104757134C>T, NC_000012.11:g.105150912C>T, NG_029810.2:g.305221C>T, NM_018413.6:c.390C>T, NM_018413.5:c.390C>T, NM_001173982.2:c.375C>T, NM_001173982.1:c.375C>T, XM_047428914.1:c.153C>T, XM_047428915.1:c.153C>T

Select item 146139381715.

rs1461393817 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:104757542 (GRCh38)
12:105151320 (GRCh37)
Canonical SPDI:: NC_000012.12:104757541:CC:
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,inframe_indel
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104757542_104757543del, NC_000012.11:g.105151320_105151321del, NG_029810.2:g.305629_305630del, NM_018413.6:c.798_799del, NM_018413.5:c.798_799del, NM_001173982.2:c.783_784del, NM_001173982.1:c.783_784del, XM_047428914.1:c.561_562del, XM_047428915.1:c.561_562del, NP_060883.1:p.Cys266_His267delinsTer, NP_001167453.1:p.Cys261_His262delinsTer, XP_047284870.1:p.Cys187_His188delinsTer, XP_047284871.1:p.Cys187_His188delinsTer

Select item 146132089016.

rs1461320890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:104601964 (GRCh38)
12:104995742 (GRCh37)
Canonical SPDI:: NC_000012.12:104601963:C:A,NC_000012.12:104601963:C:G
Gene:: CHST11 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.104601964C>A, NC_000012.12:g.104601964C>G, NC_000012.11:g.104995742C>A, NC_000012.11:g.104995742C>G, NG_029810.2:g.150051C>A, NG_029810.2:g.150051C>G, NM_018413.6:c.177C>A, NM_018413.6:c.177C>G, NM_018413.5:c.177C>A, NM_018413.5:c.177C>G, NM_001173982.2:c.162C>A, NM_001173982.2:c.162C>G, NM_001173982.1:c.162C>A, NM_001173982.1:c.162C>G

Select item 145969615417.

rs1459696154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:104757457 (GRCh38)
12:105151235 (GRCh37)
Canonical SPDI:: NC_000012.12:104757456:A:G
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.104757457A>G, NC_000012.11:g.105151235A>G, NG_029810.2:g.305544A>G, NM_018413.6:c.713A>G, NM_018413.5:c.713A>G, NM_001173982.2:c.698A>G, NM_001173982.1:c.698A>G, XM_047428914.1:c.476A>G, XM_047428915.1:c.476A>G, NP_060883.1:p.Glu238Gly, NP_001167453.1:p.Glu233Gly, XP_047284870.1:p.Glu159Gly, XP_047284871.1:p.Glu159Gly

Select item 145848990218.

rs1458489902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104756978 (GRCh38)
12:105150756 (GRCh37)
Canonical SPDI:: NC_000012.12:104756977:C:T
Gene:: CHST11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.104756978C>T, NC_000012.11:g.105150756C>T, NG_029810.2:g.305065C>T, NM_018413.6:c.234C>T, NM_018413.5:c.234C>T, NM_001173982.2:c.219C>T, NM_001173982.1:c.219C>T, XM_047428914.1:c.-4C>T, XM_047428915.1:c.-4C>T

Select item 145795441019.

rs1457954410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:104757109 (GRCh38)
12:105150887 (GRCh37)
Canonical SPDI:: NC_000012.12:104757108:A:T
Gene:: CHST11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104757109A>T, NC_000012.11:g.105150887A>T, NG_029810.2:g.305196A>T, NM_018413.6:c.365A>T, NM_018413.5:c.365A>T, NM_001173982.2:c.350A>T, NM_001173982.1:c.350A>T, XM_047428914.1:c.128A>T, XM_047428915.1:c.128A>T, NP_060883.1:p.Tyr122Phe, NP_001167453.1:p.Tyr117Phe, XP_047284870.1:p.Tyr43Phe, XP_047284871.1:p.Tyr43Phe

Select item 145693088220.

rs1456930882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:104757559 (GRCh38)
12:105151337 (GRCh37)
Canonical SPDI:: NC_000012.12:104757558:A:G
Gene:: CHST11 (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=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.104757559A>G, NC_000012.11:g.105151337A>G, NG_029810.2:g.305646A>G, NM_018413.6:c.815A>G, NM_018413.5:c.815A>G, NM_001173982.2:c.800A>G, NM_001173982.1:c.800A>G, XM_047428914.1:c.578A>G, XM_047428915.1:c.578A>G, NP_060883.1:p.His272Arg, NP_001167453.1:p.His267Arg, XP_047284870.1:p.His193Arg, XP_047284871.1:p.His193Arg

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