SNP Links for Protein (Select 1034560491) - SNP

Select item 14896342781.

rs1489634278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232441802 (GRCh38)
1:232577548 (GRCh37)
Canonical SPDI:: NC_000001.11:232441801:C:T
Gene:: SIPA1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.232441802C>T, NC_000001.10:g.232577548C>T, NM_020808.5:c.3504G>A, NM_020808.4:c.3504G>A, NM_020808.3:c.3504G>A, XM_005273213.5:c.3504G>A, XM_005273213.4:c.3504G>A, XM_005273213.3:c.3504G>A, XM_005273213.2:c.3504G>A, XM_005273213.1:c.3504G>A, XM_017001896.2:c.3504G>A, XM_017001896.1:c.3504G>A, XM_047426139.1:c.3504G>A, XM_047426143.1:c.3504G>A, XM_047426140.1:c.3504G>A, XM_047426144.1:c.3504G>A, XM_047426141.1:c.3504G>A, XM_047426142.1:c.3504G>A, NM_001377488.1:c.3504G>A, XM_047426145.1:c.3504G>A

Select item 14889703382.

rs1488970338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:232402451 (GRCh38)
1:232538197 (GRCh37)
Canonical SPDI:: NC_000001.11:232402450:T:C
Gene:: SIPA1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232402451T>C, NC_000001.10:g.232538197T>C, NM_020808.5:c.4963A>G, NM_020808.4:c.4963A>G, NM_020808.3:c.4963A>G, XM_005273213.5:c.4963A>G, XM_005273213.4:c.4963A>G, XM_005273213.3:c.4963A>G, XM_005273213.2:c.4963A>G, XM_005273213.1:c.4963A>G, XM_017001896.2:c.4963A>G, XM_017001896.1:c.4963A>G, XM_047426139.1:c.4963A>G, XM_047426143.1:c.4963A>G, XM_047426140.1:c.4963A>G, XM_047426144.1:c.4963A>G, XM_047426141.1:c.4963A>G, XM_047426142.1:c.4963A>G, NM_001377488.1:c.4909A>G, XM_047426145.1:c.4909A>G, NP_065859.3:p.Thr1655Ala, XP_005273270.1:p.Thr1655Ala, XP_016857385.1:p.Thr1655Ala, XP_047282095.1:p.Thr1655Ala, XP_047282099.1:p.Thr1655Ala, XP_047282096.1:p.Thr1655Ala, XP_047282100.1:p.Thr1655Ala, XP_047282097.1:p.Thr1655Ala, XP_047282098.1:p.Thr1655Ala, NP_001364417.1:p.Thr1637Ala, XP_047282101.1:p.Thr1637Ala

Select item 14888036763.

rs1488803676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:232514049 (GRCh38)
1:232649795 (GRCh37)
Canonical SPDI:: NC_000001.11:232514048:A:T
Gene:: SIPA1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232514049A>T, NC_000001.10:g.232649795A>T, NM_020808.5:c.1291T>A, NM_020808.4:c.1291T>A, NM_020808.3:c.1291T>A, XM_005273213.5:c.1291T>A, XM_005273213.4:c.1291T>A, XM_005273213.3:c.1291T>A, XM_005273213.2:c.1291T>A, XM_005273213.1:c.1291T>A, XM_017001896.2:c.1291T>A, XM_017001896.1:c.1291T>A, XM_047426139.1:c.1291T>A, XM_047426143.1:c.1291T>A, XM_047426140.1:c.1291T>A, XM_047426144.1:c.1291T>A, XM_047426141.1:c.1291T>A, XM_047426142.1:c.1291T>A, NM_001377488.1:c.1291T>A, XM_047426145.1:c.1291T>A, NP_065859.3:p.Ser431Thr, XP_005273270.1:p.Ser431Thr, XP_016857385.1:p.Ser431Thr, XP_047282095.1:p.Ser431Thr, XP_047282099.1:p.Ser431Thr, XP_047282096.1:p.Ser431Thr, XP_047282100.1:p.Ser431Thr, XP_047282097.1:p.Ser431Thr, XP_047282098.1:p.Ser431Thr, NP_001364417.1:p.Ser431Thr, XP_047282101.1:p.Ser431Thr

Select item 14886543464.

rs1488654346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:232432327 (GRCh38)
1:232568073 (GRCh37)
Canonical SPDI:: NC_000001.11:232432326:T:C
Gene:: SIPA1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.232432327T>C, NC_000001.10:g.232568073T>C, NM_020808.5:c.4176A>G, NM_020808.4:c.4176A>G, NM_020808.3:c.4176A>G, XM_005273213.5:c.4176A>G, XM_005273213.4:c.4176A>G, XM_005273213.3:c.4176A>G, XM_005273213.2:c.4176A>G, XM_005273213.1:c.4176A>G, XM_017001896.2:c.4176A>G, XM_017001896.1:c.4176A>G, XM_047426139.1:c.4176A>G, XM_047426143.1:c.4176A>G, XM_047426140.1:c.4176A>G, XM_047426144.1:c.4176A>G, XM_047426141.1:c.4176A>G, XM_047426142.1:c.4176A>G, NM_001377488.1:c.4176A>G, XM_047426145.1:c.4176A>G

Select item 14882231725.

rs1488223172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:232439295 (GRCh38)
1:232575041 (GRCh37)
Canonical SPDI:: NC_000001.11:232439294:G:A
Gene:: SIPA1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.232439295G>A, NC_000001.10:g.232575041G>A, NM_020808.5:c.3844C>T, NM_020808.4:c.3844C>T, NM_020808.3:c.3844C>T, XM_005273213.5:c.3844C>T, XM_005273213.4:c.3844C>T, XM_005273213.3:c.3844C>T, XM_005273213.2:c.3844C>T, XM_005273213.1:c.3844C>T, XM_017001896.2:c.3844C>T, XM_017001896.1:c.3844C>T, XM_047426139.1:c.3844C>T, XM_047426143.1:c.3844C>T, XM_047426140.1:c.3844C>T, XM_047426144.1:c.3844C>T, XM_047426141.1:c.3844C>T, XM_047426142.1:c.3844C>T, NM_001377488.1:c.3844C>T, XM_047426145.1:c.3844C>T, NP_065859.3:p.His1282Tyr, XP_005273270.1:p.His1282Tyr, XP_016857385.1:p.His1282Tyr, XP_047282095.1:p.His1282Tyr, XP_047282099.1:p.His1282Tyr, XP_047282096.1:p.His1282Tyr, XP_047282100.1:p.His1282Tyr, XP_047282097.1:p.His1282Tyr, XP_047282098.1:p.His1282Tyr, NP_001364417.1:p.His1282Tyr, XP_047282101.1:p.His1282Tyr

Select item 14877193106.

rs1487719310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232514625 (GRCh38)
1:232650371 (GRCh37)
Canonical SPDI:: NC_000001.11:232514624:C:T
Gene:: SIPA1L2 (Varview)
Functional Consequence:: missense_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_000001.11:g.232514625C>T, NC_000001.10:g.232650371C>T, NM_020808.5:c.715G>A, NM_020808.4:c.715G>A, NM_020808.3:c.715G>A, XM_005273213.5:c.715G>A, XM_005273213.4:c.715G>A, XM_005273213.3:c.715G>A, XM_005273213.2:c.715G>A, XM_005273213.1:c.715G>A, XM_017001896.2:c.715G>A, XM_017001896.1:c.715G>A, XM_047426139.1:c.715G>A, XM_047426143.1:c.715G>A, XM_047426140.1:c.715G>A, XM_047426144.1:c.715G>A, XM_047426141.1:c.715G>A, XM_047426142.1:c.715G>A, NM_001377488.1:c.715G>A, XM_047426145.1:c.715G>A, NP_065859.3:p.Ala239Thr, XP_005273270.1:p.Ala239Thr, XP_016857385.1:p.Ala239Thr, XP_047282095.1:p.Ala239Thr, XP_047282099.1:p.Ala239Thr, XP_047282096.1:p.Ala239Thr, XP_047282100.1:p.Ala239Thr, XP_047282097.1:p.Ala239Thr, XP_047282098.1:p.Ala239Thr, NP_001364417.1:p.Ala239Thr, XP_047282101.1:p.Ala239Thr

Select item 14865550257.

rs1486555025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:232515137 (GRCh38)
1:232650883 (GRCh37)
Canonical SPDI:: NC_000001.11:232515136:G:A
Gene:: SIPA1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.232515137G>A, NC_000001.10:g.232650883G>A, NM_020808.5:c.203C>T, NM_020808.4:c.203C>T, NM_020808.3:c.203C>T, XM_005273213.5:c.203C>T, XM_005273213.4:c.203C>T, XM_005273213.3:c.203C>T, XM_005273213.2:c.203C>T, XM_005273213.1:c.203C>T, XM_017001896.2:c.203C>T, XM_017001896.1:c.203C>T, XM_047426139.1:c.203C>T, XM_047426143.1:c.203C>T, XM_047426140.1:c.203C>T, XM_047426144.1:c.203C>T, XM_047426141.1:c.203C>T, XM_047426142.1:c.203C>T, NM_001377488.1:c.203C>T, XM_047426145.1:c.203C>T, NP_065859.3:p.Thr68Ile, XP_005273270.1:p.Thr68Ile, XP_016857385.1:p.Thr68Ile, XP_047282095.1:p.Thr68Ile, XP_047282099.1:p.Thr68Ile, XP_047282096.1:p.Thr68Ile, XP_047282100.1:p.Thr68Ile, XP_047282097.1:p.Thr68Ile, XP_047282098.1:p.Thr68Ile, NP_001364417.1:p.Thr68Ile, XP_047282101.1:p.Thr68Ile

Select item 14857773838.

rs1485777383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:232441370 (GRCh38)
1:232577116 (GRCh37)
Canonical SPDI:: NC_000001.11:232441369:G:A
Gene:: SIPA1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.232441370G>A, NC_000001.10:g.232577116G>A, NM_020808.5:c.3563C>T, NM_020808.4:c.3563C>T, NM_020808.3:c.3563C>T, XM_005273213.5:c.3563C>T, XM_005273213.4:c.3563C>T, XM_005273213.3:c.3563C>T, XM_005273213.2:c.3563C>T, XM_005273213.1:c.3563C>T, XM_017001896.2:c.3563C>T, XM_017001896.1:c.3563C>T, XM_047426139.1:c.3563C>T, XM_047426143.1:c.3563C>T, XM_047426140.1:c.3563C>T, XM_047426144.1:c.3563C>T, XM_047426141.1:c.3563C>T, XM_047426142.1:c.3563C>T, NM_001377488.1:c.3563C>T, XM_047426145.1:c.3563C>T, NP_065859.3:p.Ser1188Phe, XP_005273270.1:p.Ser1188Phe, XP_016857385.1:p.Ser1188Phe, XP_047282095.1:p.Ser1188Phe, XP_047282099.1:p.Ser1188Phe, XP_047282096.1:p.Ser1188Phe, XP_047282100.1:p.Ser1188Phe, XP_047282097.1:p.Ser1188Phe, XP_047282098.1:p.Ser1188Phe, NP_001364417.1:p.Ser1188Phe, XP_047282101.1:p.Ser1188Phe

Select item 14853621669.

rs1485362166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:232402453 (GRCh38)
1:232538199 (GRCh37)
Canonical SPDI:: NC_000001.11:232402452:A:G
Gene:: SIPA1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.232402453A>G, NC_000001.10:g.232538199A>G, NM_020808.5:c.4961T>C, NM_020808.4:c.4961T>C, NM_020808.3:c.4961T>C, XM_005273213.5:c.4961T>C, XM_005273213.4:c.4961T>C, XM_005273213.3:c.4961T>C, XM_005273213.2:c.4961T>C, XM_005273213.1:c.4961T>C, XM_017001896.2:c.4961T>C, XM_017001896.1:c.4961T>C, XM_047426139.1:c.4961T>C, XM_047426143.1:c.4961T>C, XM_047426140.1:c.4961T>C, XM_047426144.1:c.4961T>C, XM_047426141.1:c.4961T>C, XM_047426142.1:c.4961T>C, NM_001377488.1:c.4907T>C, XM_047426145.1:c.4907T>C, NP_065859.3:p.Leu1654Pro, XP_005273270.1:p.Leu1654Pro, XP_016857385.1:p.Leu1654Pro, XP_047282095.1:p.Leu1654Pro, XP_047282099.1:p.Leu1654Pro, XP_047282096.1:p.Leu1654Pro, XP_047282100.1:p.Leu1654Pro, XP_047282097.1:p.Leu1654Pro, XP_047282098.1:p.Leu1654Pro, NP_001364417.1:p.Leu1636Pro, XP_047282101.1:p.Leu1636Pro

Select item 148325194210.

rs1483251942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232425697 (GRCh38)
1:232561443 (GRCh37)
Canonical SPDI:: NC_000001.11:232425696:C:T
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.001092/2 (Korea1K)
T=0.001946/33 (TOMMO)
HGVS:: NC_000001.11:g.232425697C>T, NC_000001.10:g.232561443C>T, NM_020808.5:c.4522G>A, NM_020808.4:c.4522G>A, NM_020808.3:c.4522G>A, XM_005273213.5:c.4522G>A, XM_005273213.4:c.4522G>A, XM_005273213.3:c.4522G>A, XM_005273213.2:c.4522G>A, XM_005273213.1:c.4522G>A, XM_017001896.2:c.4522G>A, XM_017001896.1:c.4522G>A, XM_047426139.1:c.4522G>A, XM_047426143.1:c.4522G>A, XM_047426140.1:c.4522G>A, XM_047426144.1:c.4522G>A, XM_047426141.1:c.4522G>A, XM_047426142.1:c.4522G>A, NM_001377488.1:c.4522G>A, XM_047426145.1:c.4522G>A, NP_065859.3:p.Val1508Met, XP_005273270.1:p.Val1508Met, XP_016857385.1:p.Val1508Met, XP_047282095.1:p.Val1508Met, XP_047282099.1:p.Val1508Met, XP_047282096.1:p.Val1508Met, XP_047282100.1:p.Val1508Met, XP_047282097.1:p.Val1508Met, XP_047282098.1:p.Val1508Met, NP_001364417.1:p.Val1508Met, XP_047282101.1:p.Val1508Met

Select item 148286083411.

rs1482860834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:232439260 (GRCh38)
1:232575006 (GRCh37)
Canonical SPDI:: NC_000001.11:232439259:C:G
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232439260C>G, NC_000001.10:g.232575006C>G, NM_020808.5:c.3879G>C, NM_020808.4:c.3879G>C, NM_020808.3:c.3879G>C, XM_005273213.5:c.3879G>C, XM_005273213.4:c.3879G>C, XM_005273213.3:c.3879G>C, XM_005273213.2:c.3879G>C, XM_005273213.1:c.3879G>C, XM_017001896.2:c.3879G>C, XM_017001896.1:c.3879G>C, XM_047426139.1:c.3879G>C, XM_047426143.1:c.3879G>C, XM_047426140.1:c.3879G>C, XM_047426144.1:c.3879G>C, XM_047426141.1:c.3879G>C, XM_047426142.1:c.3879G>C, NM_001377488.1:c.3879G>C, XM_047426145.1:c.3879G>C

Select item 148280287112.

rs1482802871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:232460990 (GRCh38)
1:232596736 (GRCh37)
Canonical SPDI:: NC_000001.11:232460989:C:G,NC_000001.11:232460989:C:T
Gene:: SIPA1L2 (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)
HGVS:: NC_000001.11:g.232460990C>G, NC_000001.11:g.232460990C>T, NC_000001.10:g.232596736C>G, NC_000001.10:g.232596736C>T, NM_020808.5:c.2992G>C, NM_020808.5:c.2992G>A, NM_020808.4:c.2992G>C, NM_020808.4:c.2992G>A, NM_020808.3:c.2992G>C, NM_020808.3:c.2992G>A, XM_005273213.5:c.2992G>C, XM_005273213.5:c.2992G>A, XM_005273213.4:c.2992G>C, XM_005273213.4:c.2992G>A, XM_005273213.3:c.2992G>C, XM_005273213.3:c.2992G>A, XM_005273213.2:c.2992G>C, XM_005273213.2:c.2992G>A, XM_005273213.1:c.2992G>C, XM_005273213.1:c.2992G>A, XM_017001896.2:c.2992G>C, XM_017001896.2:c.2992G>A, XM_017001896.1:c.2992G>C, XM_017001896.1:c.2992G>A, XM_047426139.1:c.2992G>C, XM_047426139.1:c.2992G>A, XM_047426143.1:c.2992G>C, XM_047426143.1:c.2992G>A, XM_047426140.1:c.2992G>C, XM_047426140.1:c.2992G>A, XM_047426144.1:c.2992G>C, XM_047426144.1:c.2992G>A, XM_047426141.1:c.2992G>C, XM_047426141.1:c.2992G>A, XM_047426142.1:c.2992G>C, XM_047426142.1:c.2992G>A, NM_001377488.1:c.2992G>C, NM_001377488.1:c.2992G>A, XM_047426145.1:c.2992G>C, XM_047426145.1:c.2992G>A, NP_065859.3:p.Ala998Pro, NP_065859.3:p.Ala998Thr, XP_005273270.1:p.Ala998Pro, XP_005273270.1:p.Ala998Thr, XP_016857385.1:p.Ala998Pro, XP_016857385.1:p.Ala998Thr, XP_047282095.1:p.Ala998Pro, XP_047282095.1:p.Ala998Thr, XP_047282099.1:p.Ala998Pro, XP_047282099.1:p.Ala998Thr, XP_047282096.1:p.Ala998Pro, XP_047282096.1:p.Ala998Thr, XP_047282100.1:p.Ala998Pro, XP_047282100.1:p.Ala998Thr, XP_047282097.1:p.Ala998Pro, XP_047282097.1:p.Ala998Thr, XP_047282098.1:p.Ala998Pro, XP_047282098.1:p.Ala998Thr, NP_001364417.1:p.Ala998Pro, NP_001364417.1:p.Ala998Thr, XP_047282101.1:p.Ala998Pro, XP_047282101.1:p.Ala998Thr

Select item 148261985013.

rs1482619850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:232514448 (GRCh38)
1:232650194 (GRCh37)
Canonical SPDI:: NC_000001.11:232514447:C:G
Gene:: SIPA1L2 (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_000001.11:g.232514448C>G, NC_000001.10:g.232650194C>G, NM_020808.5:c.892G>C, NM_020808.4:c.892G>C, NM_020808.3:c.892G>C, XM_005273213.5:c.892G>C, XM_005273213.4:c.892G>C, XM_005273213.3:c.892G>C, XM_005273213.2:c.892G>C, XM_005273213.1:c.892G>C, XM_017001896.2:c.892G>C, XM_017001896.1:c.892G>C, XM_047426139.1:c.892G>C, XM_047426143.1:c.892G>C, XM_047426140.1:c.892G>C, XM_047426144.1:c.892G>C, XM_047426141.1:c.892G>C, XM_047426142.1:c.892G>C, NM_001377488.1:c.892G>C, XM_047426145.1:c.892G>C, NP_065859.3:p.Val298Leu, XP_005273270.1:p.Val298Leu, XP_016857385.1:p.Val298Leu, XP_047282095.1:p.Val298Leu, XP_047282099.1:p.Val298Leu, XP_047282096.1:p.Val298Leu, XP_047282100.1:p.Val298Leu, XP_047282097.1:p.Val298Leu, XP_047282098.1:p.Val298Leu, NP_001364417.1:p.Val298Leu, XP_047282101.1:p.Val298Leu

Select item 148243242714.

rs1482432427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:232483879 (GRCh38)
1:232619625 (GRCh37)
Canonical SPDI:: NC_000001.11:232483878:G:C
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.232483879G>C, NC_000001.10:g.232619625G>C, NM_020808.5:c.1894C>G, NM_020808.4:c.1894C>G, NM_020808.3:c.1894C>G, XM_005273213.5:c.1894C>G, XM_005273213.4:c.1894C>G, XM_005273213.3:c.1894C>G, XM_005273213.2:c.1894C>G, XM_005273213.1:c.1894C>G, XM_017001896.2:c.1894C>G, XM_017001896.1:c.1894C>G, XM_047426139.1:c.1894C>G, XM_047426143.1:c.1894C>G, XM_047426140.1:c.1894C>G, XM_047426144.1:c.1894C>G, XM_047426141.1:c.1894C>G, XM_047426142.1:c.1894C>G, NM_001377488.1:c.1894C>G, XM_047426145.1:c.1894C>G, NP_065859.3:p.Pro632Ala, XP_005273270.1:p.Pro632Ala, XP_016857385.1:p.Pro632Ala, XP_047282095.1:p.Pro632Ala, XP_047282099.1:p.Pro632Ala, XP_047282096.1:p.Pro632Ala, XP_047282100.1:p.Pro632Ala, XP_047282097.1:p.Pro632Ala, XP_047282098.1:p.Pro632Ala, NP_001364417.1:p.Pro632Ala, XP_047282101.1:p.Pro632Ala

Select item 147970303615.

rs1479703036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:232465347 (GRCh38)
1:232601093 (GRCh37)
Canonical SPDI:: NC_000001.11:232465346:T:C
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232465347T>C, NC_000001.10:g.232601093T>C, NM_020808.5:c.2313A>G, NM_020808.4:c.2313A>G, NM_020808.3:c.2313A>G, XM_005273213.5:c.2313A>G, XM_005273213.4:c.2313A>G, XM_005273213.3:c.2313A>G, XM_005273213.2:c.2313A>G, XM_005273213.1:c.2313A>G, XM_017001896.2:c.2313A>G, XM_017001896.1:c.2313A>G, XM_047426139.1:c.2313A>G, XM_047426143.1:c.2313A>G, XM_047426140.1:c.2313A>G, XM_047426144.1:c.2313A>G, XM_047426141.1:c.2313A>G, XM_047426142.1:c.2313A>G, NM_001377488.1:c.2313A>G, XM_047426145.1:c.2313A>G

Select item 147949588016.

rs1479495880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232445536 (GRCh38)
1:232581282 (GRCh37)
Canonical SPDI:: NC_000001.11:232445535:C:T
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.232445536C>T, NC_000001.10:g.232581282C>T, NM_020808.5:c.3346G>A, NM_020808.4:c.3346G>A, NM_020808.3:c.3346G>A, XM_005273213.5:c.3346G>A, XM_005273213.4:c.3346G>A, XM_005273213.3:c.3346G>A, XM_005273213.2:c.3346G>A, XM_005273213.1:c.3346G>A, XM_017001896.2:c.3346G>A, XM_017001896.1:c.3346G>A, XM_047426139.1:c.3346G>A, XM_047426143.1:c.3346G>A, XM_047426140.1:c.3346G>A, XM_047426144.1:c.3346G>A, XM_047426141.1:c.3346G>A, XM_047426142.1:c.3346G>A, NM_001377488.1:c.3346G>A, XM_047426145.1:c.3346G>A, NP_065859.3:p.Gly1116Ser, XP_005273270.1:p.Gly1116Ser, XP_016857385.1:p.Gly1116Ser, XP_047282095.1:p.Gly1116Ser, XP_047282099.1:p.Gly1116Ser, XP_047282096.1:p.Gly1116Ser, XP_047282100.1:p.Gly1116Ser, XP_047282097.1:p.Gly1116Ser, XP_047282098.1:p.Gly1116Ser, NP_001364417.1:p.Gly1116Ser, XP_047282101.1:p.Gly1116Ser

Select item 147891260717.

rs1478912607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232415575 (GRCh38)
1:232551321 (GRCh37)
Canonical SPDI:: NC_000001.11:232415574:C:T
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232415575C>T, NC_000001.10:g.232551321C>T, NM_020808.5:c.4681G>A, NM_020808.4:c.4681G>A, NM_020808.3:c.4681G>A, XM_005273213.5:c.4681G>A, XM_005273213.4:c.4681G>A, XM_005273213.3:c.4681G>A, XM_005273213.2:c.4681G>A, XM_005273213.1:c.4681G>A, XM_017001896.2:c.4681G>A, XM_017001896.1:c.4681G>A, XM_047426139.1:c.4681G>A, XM_047426143.1:c.4681G>A, XM_047426140.1:c.4681G>A, XM_047426144.1:c.4681G>A, XM_047426141.1:c.4681G>A, XM_047426142.1:c.4681G>A, NM_001377488.1:c.4681G>A, XM_047426145.1:c.4681G>A, NP_065859.3:p.Asp1561Asn, XP_005273270.1:p.Asp1561Asn, XP_016857385.1:p.Asp1561Asn, XP_047282095.1:p.Asp1561Asn, XP_047282099.1:p.Asp1561Asn, XP_047282096.1:p.Asp1561Asn, XP_047282100.1:p.Asp1561Asn, XP_047282097.1:p.Asp1561Asn, XP_047282098.1:p.Asp1561Asn, NP_001364417.1:p.Asp1561Asn, XP_047282101.1:p.Asp1561Asn

Select item 147820323318.

rs1478203233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:232428504 (GRCh38)
1:232564250 (GRCh37)
Canonical SPDI:: NC_000001.11:232428503:A:G
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
G=0.00006/1 (TOMMO)
G=0.00022/1 (Estonian)
HGVS:: NC_000001.11:g.232428504A>G, NC_000001.10:g.232564250A>G, NM_020808.5:c.4317T>C, NM_020808.4:c.4317T>C, NM_020808.3:c.4317T>C, XM_005273213.5:c.4317T>C, XM_005273213.4:c.4317T>C, XM_005273213.3:c.4317T>C, XM_005273213.2:c.4317T>C, XM_005273213.1:c.4317T>C, XM_017001896.2:c.4317T>C, XM_017001896.1:c.4317T>C, XM_047426139.1:c.4317T>C, XM_047426143.1:c.4317T>C, XM_047426140.1:c.4317T>C, XM_047426144.1:c.4317T>C, XM_047426141.1:c.4317T>C, XM_047426142.1:c.4317T>C, NM_001377488.1:c.4317T>C, XM_047426145.1:c.4317T>C

Select item 147810881719.

rs1478108817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:232493654 (GRCh38)
1:232629400 (GRCh37)
Canonical SPDI:: NC_000001.11:232493653:T:C
Gene:: SIPA1L2 (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=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.232493654T>C, NC_000001.10:g.232629400T>C, NM_020808.5:c.1490A>G, NM_020808.4:c.1490A>G, NM_020808.3:c.1490A>G, XM_005273213.5:c.1490A>G, XM_005273213.4:c.1490A>G, XM_005273213.3:c.1490A>G, XM_005273213.2:c.1490A>G, XM_005273213.1:c.1490A>G, XM_017001896.2:c.1490A>G, XM_017001896.1:c.1490A>G, XM_047426139.1:c.1490A>G, XM_047426143.1:c.1490A>G, XM_047426140.1:c.1490A>G, XM_047426144.1:c.1490A>G, XM_047426141.1:c.1490A>G, XM_047426142.1:c.1490A>G, NM_001377488.1:c.1490A>G, XM_047426145.1:c.1490A>G, NP_065859.3:p.Gln497Arg, XP_005273270.1:p.Gln497Arg, XP_016857385.1:p.Gln497Arg, XP_047282095.1:p.Gln497Arg, XP_047282099.1:p.Gln497Arg, XP_047282096.1:p.Gln497Arg, XP_047282100.1:p.Gln497Arg, XP_047282097.1:p.Gln497Arg, XP_047282098.1:p.Gln497Arg, NP_001364417.1:p.Gln497Arg, XP_047282101.1:p.Gln497Arg

Select item 147697693720.

rs1476976937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:232483902 (GRCh38)
1:232619648 (GRCh37)
Canonical SPDI:: NC_000001.11:232483901:A:G
Gene:: SIPA1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.232483902A>G, NC_000001.10:g.232619648A>G, NM_020808.5:c.1871T>C, NM_020808.4:c.1871T>C, NM_020808.3:c.1871T>C, XM_005273213.5:c.1871T>C, XM_005273213.4:c.1871T>C, XM_005273213.3:c.1871T>C, XM_005273213.2:c.1871T>C, XM_005273213.1:c.1871T>C, XM_017001896.2:c.1871T>C, XM_017001896.1:c.1871T>C, XM_047426139.1:c.1871T>C, XM_047426143.1:c.1871T>C, XM_047426140.1:c.1871T>C, XM_047426144.1:c.1871T>C, XM_047426141.1:c.1871T>C, XM_047426142.1:c.1871T>C, NM_001377488.1:c.1871T>C, XM_047426145.1:c.1871T>C, NP_065859.3:p.Met624Thr, XP_005273270.1:p.Met624Thr, XP_016857385.1:p.Met624Thr, XP_047282095.1:p.Met624Thr, XP_047282099.1:p.Met624Thr, XP_047282096.1:p.Met624Thr, XP_047282100.1:p.Met624Thr, XP_047282097.1:p.Met624Thr, XP_047282098.1:p.Met624Thr, NP_001364417.1:p.Met624Thr, XP_047282101.1:p.Met624Thr

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Result Filters

Clinical Significance

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Annotation

Global MAF

Custom range

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Items: 1 to 20 of 1637

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