SNP Links for Protein (Select 45433501) - SNP

Links from Protein

Items: 1 to 20 of 868

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Select item 14908823571.

rs1490882357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:41362720 (GRCh38)
20:39991360 (GRCh37)
Canonical SPDI:: NC_000020.11:41362719:C:A,NC_000020.11:41362719:C:T
Gene:: EMILIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.41362720C>A, NC_000020.11:g.41362720C>T, NC_000020.10:g.39991360C>A, NC_000020.10:g.39991360C>T, NM_052846.2:c.849G>T, NM_052846.2:c.849G>A, NM_052846.1:c.849G>T, NM_052846.1:c.849G>A

Select item 14906286982.

rs1490628698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:41366607 (GRCh38)
20:39995247 (GRCh37)
Canonical SPDI:: NC_000020.11:41366606:G:A
Gene:: EMILIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.41366607G>A, NC_000020.10:g.39995247G>A, NM_052846.2:c.28C>T, NM_052846.1:c.28C>T

Select item 14884555593.

rs1488455559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41361395 (GRCh38)
20:39990035 (GRCh37)
Canonical SPDI:: NC_000020.11:41361394:C:T
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.41361395C>T, NC_000020.10:g.39990035C>T, NM_052846.2:c.2174G>A, NM_052846.1:c.2174G>A, NP_443078.1:p.Trp725Ter

Select item 14869017554.

rs1486901755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:41362107 (GRCh38)
20:39990747 (GRCh37)
Canonical SPDI:: NC_000020.11:41362106:G:A
Gene:: EMILIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41362107G>A, NC_000020.10:g.39990747G>A, NM_052846.2:c.1462C>T, NM_052846.1:c.1462C>T

Select item 14841007645.

rs1484100764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:41362051 (GRCh38)
20:39990691 (GRCh37)
Canonical SPDI:: NC_000020.11:41362050:C:G
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41362051C>G, NC_000020.10:g.39990691C>G, NM_052846.2:c.1518G>C, NM_052846.1:c.1518G>C, NP_443078.1:p.Glu506Asp

Select item 14831509286.

rs1483150928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:41361981 (GRCh38)
20:39990621 (GRCh37)
Canonical SPDI:: NC_000020.11:41361980:G:C,NC_000020.11:41361980:G:T
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41361981G>C, NC_000020.11:g.41361981G>T, NC_000020.10:g.39990621G>C, NC_000020.10:g.39990621G>T, NM_052846.2:c.1588C>G, NM_052846.2:c.1588C>A, NM_052846.1:c.1588C>G, NM_052846.1:c.1588C>A, NP_443078.1:p.Leu530Val, NP_443078.1:p.Leu530Met

Select item 14805690417.

rs1480569041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:41361349 (GRCh38)
20:39989989 (GRCh37)
Canonical SPDI:: NC_000020.11:41361348:C:A,NC_000020.11:41361348:C:G
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.41361349C>A, NC_000020.11:g.41361349C>G, NC_000020.10:g.39989989C>A, NC_000020.10:g.39989989C>G, NM_052846.2:c.2220G>T, NM_052846.2:c.2220G>C, NM_052846.1:c.2220G>T, NM_052846.1:c.2220G>C, NP_443078.1:p.Gln740His, NP_443078.1:p.Gln740His

Select item 14794383548.

rs1479438354 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:41366476 (GRCh38)
20:39995116 (GRCh37)
Canonical SPDI:: NC_000020.11:41366475:CCCC:CCC
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000020.11:g.41366479del, NC_000020.10:g.39995119del, NM_052846.2:c.159del, NM_052846.1:c.159del, NP_443078.1:p.Pro54fs

Select item 14767977899.

rs1476797789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:41362368 (GRCh38)
20:39991008 (GRCh37)
Canonical SPDI:: NC_000020.11:41362367:C:A
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41362368C>A, NC_000020.10:g.39991008C>A, NM_052846.2:c.1201G>T, NM_052846.1:c.1201G>T, NP_443078.1:p.Ala401Ser

Select item 147628988710.

rs1476289887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41365149 (GRCh38)
20:39993789 (GRCh37)
Canonical SPDI:: NC_000020.11:41365148:C:T
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.41365149C>T, NC_000020.10:g.39993789C>T, NM_052846.2:c.176G>A, NM_052846.1:c.176G>A, NP_443078.1:p.Cys59Tyr

Select item 147506550111.

rs1475065501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:41361660 (GRCh38)
20:39990300 (GRCh37)
Canonical SPDI:: NC_000020.11:41361659:C:A
Gene:: EMILIN3 (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)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.41361660C>A, NC_000020.10:g.39990300C>A, NM_052846.2:c.1909G>T, NM_052846.1:c.1909G>T, NP_443078.1:p.Val637Phe

Select item 147306706512.

rs1473067065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41361460 (GRCh38)
20:39990100 (GRCh37)
Canonical SPDI:: NC_000020.11:41361459:C:T
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41361460C>T, NC_000020.10:g.39990100C>T, NM_052846.2:c.2109G>A, NM_052846.1:c.2109G>A

Select item 147215743113.

rs1472157431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41362430 (GRCh38)
20:39991070 (GRCh37)
Canonical SPDI:: NC_000020.11:41362429:C:T
Gene:: EMILIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.41362430C>T, NC_000020.10:g.39991070C>T, NM_052846.2:c.1139G>A, NM_052846.1:c.1139G>A, NP_443078.1:p.Gly380Asp

Select item 147170749214.

rs1471707492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:41361564 (GRCh38)
20:39990204 (GRCh37)
Canonical SPDI:: NC_000020.11:41361563:C:G
Gene:: EMILIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41361564C>G, NC_000020.10:g.39990204C>G, NM_052846.2:c.2005G>C, NM_052846.1:c.2005G>C, NP_443078.1:p.Ala669Pro

Select item 147153259715.

rs1471532597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:41362550 (GRCh38)
20:39991190 (GRCh37)
Canonical SPDI:: NC_000020.11:41362549:T:C
Gene:: EMILIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41362550T>C, NC_000020.10:g.39991190T>C, NM_052846.2:c.1019A>G, NM_052846.1:c.1019A>G, NP_443078.1:p.Gln340Arg

Select item 146911269416.

rs1469112694 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTGCCA>- [Show Flanks]
Chromosome:: 20:41362739 (GRCh38)
20:39991379 (GRCh37)
Canonical SPDI:: NC_000020.11:41362734:GCCAAGTGCCA:GCCA
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41362739_41362745del, NC_000020.10:g.39991379_39991385del, NM_052846.2:c.828_834del, NM_052846.1:c.828_834del, NP_443078.1:p.Leu277fs

Select item 146815244017.

rs1468152440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:41365154 (GRCh38)
20:39993794 (GRCh37)
Canonical SPDI:: NC_000020.11:41365153:G:A
Gene:: EMILIN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.41365154G>A, NC_000020.10:g.39993794G>A, NM_052846.2:c.171C>T, NM_052846.1:c.171C>T

Select item 146798022518.

rs1467980225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:41361542 (GRCh38)
20:39990182 (GRCh37)
Canonical SPDI:: NC_000020.11:41361541:T:C
Gene:: EMILIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.41361542T>C, NC_000020.10:g.39990182T>C, NM_052846.2:c.2027A>G, NM_052846.1:c.2027A>G, NP_443078.1:p.Gln676Arg

Select item 146455634219.

rs1464556342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:41361963 (GRCh38)
20:39990603 (GRCh37)
Canonical SPDI:: NC_000020.11:41361962:C:G,NC_000020.11:41361962:C:T
Gene:: EMILIN3 (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)
HGVS:: NC_000020.11:g.41361963C>G, NC_000020.11:g.41361963C>T, NC_000020.10:g.39990603C>G, NC_000020.10:g.39990603C>T, NM_052846.2:c.1606G>C, NM_052846.2:c.1606G>A, NM_052846.1:c.1606G>C, NM_052846.1:c.1606G>A, NP_443078.1:p.Glu536Gln, NP_443078.1:p.Glu536Lys

Select item 146447948920.

rs1464479489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:41362581 (GRCh38)
20:39991221 (GRCh37)
Canonical SPDI:: NC_000020.11:41362580:A:C
Gene:: EMILIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41362581A>C, NC_000020.10:g.39991221A>C, NM_052846.2:c.988T>G, NM_052846.1:c.988T>G, NP_443078.1:p.Cys330Gly

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