SNP Links for Protein (Select 91208435) - SNP

Links from Protein

Items: 1 to 20 of 449

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Select item 14908078821.

rs1490807882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:31647849 (GRCh38)
11:31669397 (GRCh37)
Canonical SPDI:: NC_000011.10:31647848:G:C
Gene:: ELP4 (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=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.31647849G>C, NC_000011.9:g.31669397G>C, NG_034086.1:g.143121G>C, NM_019040.4:c.1036G>C, NM_019040.5:c.1036G>C, NM_019040.3:c.1036G>C, NM_001288726.2:c.1036G>C, NM_001288726.1:c.1036G>C, NG_042190.1:g.7145G>C, NM_001288725.2:c.1039G>C, NM_001288725.1:c.1039G>C, NP_061913.3:p.Gly346Arg, NP_001275655.1:p.Gly346Arg, NP_001275654.1:p.Gly347Arg

Select item 14888366862.

rs1488836686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:31509876 (GRCh38)
11:31531423 (GRCh37)
Canonical SPDI:: NC_000011.10:31509875:G:T
Gene:: ELP4 (Varview), IMMP1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31509876G>T, NC_000011.9:g.31531423G>T, NG_034086.1:g.5148G>T, NM_019040.4:c.92G>T, NM_019040.5:c.92G>T, NM_019040.3:c.92G>T, NM_001288726.2:c.92G>T, NM_001288726.1:c.92G>T, NM_001288725.2:c.92G>T, NM_001288725.1:c.92G>T, NP_061913.3:p.Arg31Met, NP_001275655.1:p.Arg31Met, NP_001275654.1:p.Arg31Met

Select item 14866790353.

rs1486679035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:31594776 (GRCh38)
11:31616323 (GRCh37)
Canonical SPDI:: NC_000011.10:31594775:C:T
Gene:: ELP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.31594776C>T, NC_000011.9:g.31616323C>T, NG_034086.1:g.90048C>T, NM_019040.4:c.388C>T, NM_019040.5:c.388C>T, NM_019040.3:c.388C>T, NM_001288726.2:c.388C>T, NM_001288726.1:c.388C>T, NM_001288725.2:c.388C>T, NM_001288725.1:c.388C>T, NP_061913.3:p.Pro130Ser, NP_001275655.1:p.Pro130Ser, NP_001275654.1:p.Pro130Ser

Select item 14855764444.

rs1485576444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:31627172 (GRCh38)
11:31648719 (GRCh37)
Canonical SPDI:: NC_000011.10:31627171:G:A
Gene:: ELP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31627172G>A, NC_000011.9:g.31648719G>A, NG_034086.1:g.122444G>A, NM_019040.4:c.716G>A, NM_019040.5:c.716G>A, NM_019040.3:c.716G>A, NM_001288726.2:c.716G>A, NM_001288726.1:c.716G>A, NM_001288725.2:c.719G>A, NM_001288725.1:c.719G>A, NP_061913.3:p.Gly239Glu, NP_001275655.1:p.Gly239Glu, NP_001275654.1:p.Gly240Glu

Select item 14838202315.

rs1483820231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:31783450 (GRCh38)
11:31804998 (GRCh37)
Canonical SPDI:: NC_000011.10:31783449:C:A
Gene:: ELP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31783450C>A, NC_000011.9:g.31804998C>A, NG_034086.1:g.278722C>A, NM_019040.4:c.1201C>A, NM_019040.5:c.1201C>A, NM_019040.3:c.1201C>A, NM_001288726.2:c.*21C>A, NM_001288726.1:c.*21C>A, NG_008679.1:g.39512G>T, NM_001288725.2:c.1343C>A, NM_001288725.1:c.1343C>A, NP_061913.3:p.Leu401Met, NP_001275654.1:p.Ser448Tyr

Select item 14818776536.

rs1481877653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:31783510 (GRCh38)
11:31805058 (GRCh37)
Canonical SPDI:: NC_000011.10:31783509:C:T
Gene:: ELP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
T=0.000354/6 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.31783510C>T, NC_000011.9:g.31805058C>T, NG_034086.1:g.278782C>T, NM_019040.4:c.1261C>T, NM_019040.5:c.1261C>T, NM_019040.3:c.1261C>T, NM_001288726.2:c.*81C>T, NM_001288726.1:c.*81C>T, NG_008679.1:g.39452G>A, NM_001288725.2:c.1403C>T, NM_001288725.1:c.1403C>T, NP_061913.3:p.His421Tyr, NP_001275654.1:p.Ala468Val

Select item 14806231737.

rs1480623173 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:31520089 (GRCh38)
11:31541636 (GRCh37)
Canonical SPDI:: NC_000011.10:31520088:TT:T
Gene:: ELP4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.31520090del, NC_000011.9:g.31541637del, NG_034086.1:g.15362del, NM_019040.4:c.258del, NM_019040.5:c.258del, NM_019040.3:c.258del, NM_001288726.2:c.258del, NM_001288726.1:c.258del, NM_001288725.2:c.258del, NM_001288725.1:c.258del, NP_061913.3:p.Ile86fs, NP_001275655.1:p.Ile86fs, NP_001275654.1:p.Ile86fs

Select item 14741708458.

rs1474170845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:31594899 (GRCh38)
11:31616446 (GRCh37)
Canonical SPDI:: NC_000011.10:31594898:G:A
Gene:: ELP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.31594899G>A, NC_000011.9:g.31616446G>A, NG_034086.1:g.90171G>A, NM_019040.4:c.511G>A, NM_019040.5:c.511G>A, NM_019040.3:c.511G>A, NM_001288726.2:c.511G>A, NM_001288726.1:c.511G>A, NM_001288725.2:c.511G>A, NM_001288725.1:c.511G>A, NP_061913.3:p.Glu171Lys, NP_001275655.1:p.Glu171Lys, NP_001275654.1:p.Glu171Lys

Select item 14731532589.

rs1473153258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:31783495 (GRCh38)
11:31805043 (GRCh37)
Canonical SPDI:: NC_000011.10:31783494:G:T
Gene:: ELP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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.31783495G>T, NC_000011.9:g.31805043G>T, NG_034086.1:g.278767G>T, NM_019040.4:c.1246G>T, NM_019040.5:c.1246G>T, NM_019040.3:c.1246G>T, NM_001288726.2:c.*66G>T, NM_001288726.1:c.*66G>T, NG_008679.1:g.39467C>A, NM_001288725.2:c.1388G>T, NM_001288725.1:c.1388G>T, NP_061913.3:p.Ala416Ser, NP_001275654.1:p.Gly463Val

Select item 146876549610.

rs1468765496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:31647742 (GRCh38)
11:31669290 (GRCh37)
Canonical SPDI:: NC_000011.10:31647741:A:G
Gene:: ELP4 (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_000011.10:g.31647742A>G, NC_000011.9:g.31669290A>G, NG_034086.1:g.143014A>G, NM_019040.4:c.929A>G, NM_019040.5:c.929A>G, NM_019040.3:c.929A>G, NM_001288726.2:c.929A>G, NM_001288726.1:c.929A>G, NG_042190.1:g.7038A>G, NM_001288725.2:c.932A>G, NM_001288725.1:c.932A>G, NP_061913.3:p.Asn310Ser, NP_001275655.1:p.Asn310Ser, NP_001275654.1:p.Asn311Ser

Select item 146838822411.

rs1468388224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:31647811 (GRCh38)
11:31669359 (GRCh37)
Canonical SPDI:: NC_000011.10:31647810:C:T
Gene:: ELP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31647811C>T, NC_000011.9:g.31669359C>T, NG_034086.1:g.143083C>T, NM_019040.4:c.998C>T, NM_019040.5:c.998C>T, NM_019040.3:c.998C>T, NM_001288726.2:c.998C>T, NM_001288726.1:c.998C>T, NG_042190.1:g.7107C>T, NM_001288725.2:c.1001C>T, NM_001288725.1:c.1001C>T, NP_061913.3:p.Ser333Phe, NP_001275655.1:p.Ser333Phe, NP_001275654.1:p.Ser334Phe

Select item 146765287612.

rs1467652876 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:31647756 (GRCh38)
11:31669304 (GRCh37)
Canonical SPDI:: NC_000011.10:31647755:G:
Gene:: ELP4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.31647756del, NC_000011.9:g.31669304del, NG_034086.1:g.143028del, NM_019040.4:c.943del, NM_019040.5:c.943del, NM_019040.3:c.943del, NM_001288726.2:c.943del, NM_001288726.1:c.943del, NG_042190.1:g.7052del, NM_001288725.2:c.946del, NM_001288725.1:c.946del, NP_061913.3:p.Ala315fs, NP_001275655.1:p.Ala315fs, NP_001275654.1:p.Ala316fs

Select item 146306062013.

rs1463060620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:31509792 (GRCh38)
11:31531339 (GRCh37)
Canonical SPDI:: NC_000011.10:31509791:C:T
Gene:: ELP4 (Varview), IMMP1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31509792C>T, NC_000011.9:g.31531339C>T, NG_034086.1:g.5064C>T, NM_019040.4:c.8C>T, NM_019040.5:c.8C>T, NM_019040.3:c.8C>T, NM_001288726.2:c.8C>T, NM_001288726.1:c.8C>T, NM_001288725.2:c.8C>T, NM_001288725.1:c.8C>T, NP_061913.3:p.Ala3Val, NP_001275655.1:p.Ala3Val, NP_001275654.1:p.Ala3Val

Select item 146194737914.

rs1461947379 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTA [Show Flanks]
Chromosome:: 11:31650204 (GRCh38)
11:31671753 (GRCh37)
Canonical SPDI:: NC_000011.10:31650204:AGCTA:AGCTAGCTA
Gene:: ELP4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: AGCT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31650206_31650209dup, NC_000011.9:g.31671754_31671757dup, NG_034086.1:g.145478_145481dup, NM_019040.4:c.1128_1131dup, NM_019040.5:c.1128_1131dup, NM_019040.3:c.1128_1131dup, NM_001288726.2:c.1128_1131dup, NM_001288726.1:c.1128_1131dup, NG_042190.1:g.9502_9505dup, NM_001288725.2:c.1131_1134dup, NM_001288725.1:c.1131_1134dup, NP_061913.3:p.Phe378fs, NP_001275655.1:p.Phe378fs, NP_001275654.1:p.Phe379fs

Select item 146124165715.

rs1461241657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:31539750 (GRCh38)
11:31561297 (GRCh37)
Canonical SPDI:: NC_000011.10:31539749:A:G
Gene:: ELP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.31539750A>G, NC_000011.9:g.31561297A>G, NG_034086.1:g.35022A>G, NM_019040.4:c.348A>G, NM_019040.5:c.348A>G, NM_019040.3:c.348A>G, NM_001288726.2:c.348A>G, NM_001288726.1:c.348A>G, NM_001288725.2:c.348A>G, NM_001288725.1:c.348A>G

Select item 145315769016.

rs1453157690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:31603872 (GRCh38)
11:31625419 (GRCh37)
Canonical SPDI:: NC_000011.10:31603871:A:G
Gene:: ELP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31603872A>G, NC_000011.9:g.31625419A>G, NG_034086.1:g.99144A>G, NM_019040.4:c.618A>G, NM_019040.5:c.618A>G, NM_019040.3:c.618A>G, NM_001288726.2:c.618A>G, NM_001288726.1:c.618A>G, NM_001288725.2:c.621A>G, NM_001288725.1:c.621A>G

Select item 145258510317.

rs1452585103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:31539664 (GRCh38)
11:31561211 (GRCh37)
Canonical SPDI:: NC_000011.10:31539663:G:A
Gene:: ELP4 (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_000011.10:g.31539664G>A, NC_000011.9:g.31561211G>A, NG_034086.1:g.34936G>A, NM_019040.4:c.262G>A, NM_019040.5:c.262G>A, NM_019040.3:c.262G>A, NM_001288726.2:c.262G>A, NM_001288726.1:c.262G>A, NM_001288725.2:c.262G>A, NM_001288725.1:c.262G>A, NP_061913.3:p.Glu88Lys, NP_001275655.1:p.Glu88Lys, NP_001275654.1:p.Glu88Lys

Select item 145119591618.

rs1451195916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:31509866 (GRCh38)
11:31531413 (GRCh37)
Canonical SPDI:: NC_000011.10:31509865:A:G
Gene:: ELP4 (Varview), IMMP1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.31509866A>G, NC_000011.9:g.31531413A>G, NG_034086.1:g.5138A>G, NM_019040.4:c.82A>G, NM_019040.5:c.82A>G, NM_019040.3:c.82A>G, NM_001288726.2:c.82A>G, NM_001288726.1:c.82A>G, NM_001288725.2:c.82A>G, NM_001288725.1:c.82A>G, NP_061913.3:p.Ser28Gly, NP_001275655.1:p.Ser28Gly, NP_001275654.1:p.Ser28Gly

Select item 144665617019.

rs1446656170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:31632270 (GRCh38)
11:31653817 (GRCh37)
Canonical SPDI:: NC_000011.10:31632269:A:G
Gene:: ELP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.31632270A>G, NC_000011.9:g.31653817A>G, NG_034086.1:g.127542A>G, NM_019040.4:c.792A>G, NM_019040.5:c.792A>G, NM_019040.3:c.792A>G, NM_001288726.2:c.792A>G, NM_001288726.1:c.792A>G, NM_001288725.2:c.795A>G, NM_001288725.1:c.795A>G

Select item 144573834020.

rs1445738340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:31783395 (GRCh38)
11:31804943 (GRCh37)
Canonical SPDI:: NC_000011.10:31783394:A:G
Gene:: ELP4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.31783395A>G, NC_000011.9:g.31804943A>G, NG_034086.1:g.278667A>G, NM_019040.4:c.1146A>G, NM_019040.5:c.1146A>G, NM_019040.3:c.1146A>G, NM_001288726.2:c.1574A>G, NM_001288726.1:c.1574A>G, NG_008679.1:g.39567T>C, NM_001288725.2:c.1288A>G, NM_001288725.1:c.1288A>G, NP_001275655.1:p.Asp525Gly, NP_001275654.1:p.Thr430Ala

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