SNP Links for Protein (Select 46409458) - SNP

Links from Protein

Items: 1 to 20 of 124

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Select item 14801626391.

rs1480162639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:52565217 (GRCh38)
8:53477777 (GRCh37)
Canonical SPDI:: NC_000008.11:52565216:A:C
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.52565217A>C, NC_000008.10:g.53477777A>C, NM_207413.4:c.40T>G, NM_207413.3:c.40T>G, NP_997296.1:p.Phe14Val

Select item 14772432992.

rs1477243299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:52565086 (GRCh38)
8:53477646 (GRCh37)
Canonical SPDI:: NC_000008.11:52565085:G:T
Gene:: ALKAL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.52565086G>T, NC_000008.10:g.53477646G>T, NM_207413.4:c.171C>A, NM_207413.3:c.171C>A

Select item 14768840723.

rs1476884072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:52538505 (GRCh38)
8:53451065 (GRCh37)
Canonical SPDI:: NC_000008.11:52538504:A:T
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.52538505A>T, NC_000008.10:g.53451065A>T, NM_207413.4:c.328T>A, NM_207413.3:c.328T>A, NP_997296.1:p.Tyr110Asn

Select item 14576007934.

rs1457600793 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATTTTGATGCATGATTTCTTTCTGACAGCTCTACT [Show Flanks]
Chromosome:: 8:52565251 (GRCh38)
8:53477812 (GRCh37)
Canonical SPDI:: NC_000008.11:52565251::ATTTTGATGCATGATTTCTTTCTGACAGCTCTACT
Gene:: ALKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000008.11:g.52565251_52565252insATTTTGATGCATGATTTCTTTCTGACAGCTCTACT, NC_000008.10:g.53477811_53477812insATTTTGATGCATGATTTCTTTCTGACAGCTCTACT, NM_207413.4:c.5_6insAGTAGAGCTGTCAGAAAGAAATCATGCATCAAAAT, NM_207413.3:c.5_6insAGTAGAGCTGTCAGAAAGAAATCATGCATCAAAAT, NP_997296.1:p.Pro3fs

Select item 14440354495.

rs1444035449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:52565211 (GRCh38)
8:53477771 (GRCh37)
Canonical SPDI:: NC_000008.11:52565210:G:C
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000046/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.52565211G>C, NC_000008.10:g.53477771G>C, NM_207413.4:c.46C>G, NM_207413.3:c.46C>G, NP_997296.1:p.Leu16Val

Select item 14430596876.

rs1443059687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:52565201 (GRCh38)
8:53477761 (GRCh37)
Canonical SPDI:: NC_000008.11:52565200:G:C
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (Korea1K)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000343/1 (KOREAN)
C=0.000955/16 (TOMMO)
HGVS:: NC_000008.11:g.52565201G>C, NC_000008.10:g.53477761G>C, NM_207413.4:c.56C>G, NM_207413.3:c.56C>G, NP_997296.1:p.Ala19Gly

Select item 14427394917.

rs1442739491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:52539899 (GRCh38)
8:53452459 (GRCh37)
Canonical SPDI:: NC_000008.11:52539898:A:G
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.52539899A>G, NC_000008.10:g.53452459A>G, NM_207413.4:c.257T>C, NM_207413.3:c.257T>C, NP_997296.1:p.Phe86Ser

Select item 14393380838.

rs1439338083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:52565221 (GRCh38)
8:53477781 (GRCh37)
Canonical SPDI:: NC_000008.11:52565220:T:A
Gene:: ALKAL1 (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_000008.11:g.52565221T>A, NC_000008.10:g.53477781T>A, NM_207413.4:c.36A>T, NM_207413.3:c.36A>T

Select item 14392638379.

rs1439263837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:52565171 (GRCh38)
8:53477731 (GRCh37)
Canonical SPDI:: NC_000008.11:52565170:G:A
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.52565171G>A, NC_000008.10:g.53477731G>A, NM_207413.4:c.86C>T, NM_207413.3:c.86C>T, NP_997296.1:p.Pro29Leu

Select item 142591491010.

rs1425914910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:52565099 (GRCh38)
8:53477659 (GRCh37)
Canonical SPDI:: NC_000008.11:52565098:G:C
Gene:: ALKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.52565099G>C, NC_000008.10:g.53477659G>C, NM_207413.4:c.158C>G, NM_207413.3:c.158C>G, NP_997296.1:p.Ala53Gly

Select item 138810534711.

rs1388105347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:52565235 (GRCh38)
8:53477795 (GRCh37)
Canonical SPDI:: NC_000008.11:52565234:C:A
Gene:: ALKAL1 (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)
HGVS:: NC_000008.11:g.52565235C>A, NC_000008.10:g.53477795C>A, NM_207413.4:c.22G>T, NM_207413.3:c.22G>T, NP_997296.1:p.Ala8Ser

Select item 138517705312.

rs1385177053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:52565101 (GRCh38)
8:53477661 (GRCh37)
Canonical SPDI:: NC_000008.11:52565100:C:A,NC_000008.11:52565100:C:G
Gene:: ALKAL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.52565101C>A, NC_000008.11:g.52565101C>G, NC_000008.10:g.53477661C>A, NC_000008.10:g.53477661C>G, NM_207413.4:c.156G>T, NM_207413.4:c.156G>C, NM_207413.3:c.156G>T, NM_207413.3:c.156G>C

Select item 138265121113.

rs1382651211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:52565097 (GRCh38)
8:53477657 (GRCh37)
Canonical SPDI:: NC_000008.11:52565096:C:T
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.52565097C>T, NC_000008.10:g.53477657C>T, NM_207413.4:c.160G>A, NM_207413.3:c.160G>A, NP_997296.1:p.Gly54Ser

Select item 138219312214.

rs1382193122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:52565094 (GRCh38)
8:53477654 (GRCh37)
Canonical SPDI:: NC_000008.11:52565093:G:A
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.52565094G>A, NC_000008.10:g.53477654G>A, NM_207413.4:c.163C>T, NM_207413.3:c.163C>T, NP_997296.1:p.Arg55Trp

Select item 137735978715.

rs1377359787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:52565078 (GRCh38)
8:53477638 (GRCh37)
Canonical SPDI:: NC_000008.11:52565077:G:A
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000027/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.52565078G>A, NC_000008.10:g.53477638G>A, NM_207413.4:c.179C>T, NM_207413.3:c.179C>T, NP_997296.1:p.Ser60Phe

Select item 137285432116.

rs1372854321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:52538485 (GRCh38)
8:53451045 (GRCh37)
Canonical SPDI:: NC_000008.11:52538484:C:T
Gene:: ALKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.52538485C>T, NC_000008.10:g.53451045C>T, NM_207413.4:c.348G>A, NM_207413.3:c.348G>A

Select item 136546633417.

rs1365466334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:52565177 (GRCh38)
8:53477737 (GRCh37)
Canonical SPDI:: NC_000008.11:52565176:C:T
Gene:: ALKAL1 (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_000008.11:g.52565177C>T, NC_000008.10:g.53477737C>T, NM_207413.4:c.80G>A, NM_207413.3:c.80G>A, NP_997296.1:p.Gly27Glu

Select item 136474993618.

rs1364749936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:52565115 (GRCh38)
8:53477675 (GRCh37)
Canonical SPDI:: NC_000008.11:52565114:G:A
Gene:: ALKAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.52565115G>A, NC_000008.10:g.53477675G>A, NM_207413.4:c.142C>T, NM_207413.3:c.142C>T, NP_997296.1:p.Leu48Phe

Select item 135077147119.

rs1350771471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:52565137 (GRCh38)
8:53477697 (GRCh37)
Canonical SPDI:: NC_000008.11:52565136:C:G
Gene:: ALKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.52565137C>G, NC_000008.10:g.53477697C>G, NM_207413.4:c.120G>C, NM_207413.3:c.120G>C, NP_997296.1:p.Lys40Asn

Select item 134158391020.

rs1341583910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:52539843 (GRCh38)
8:53452403 (GRCh37)
Canonical SPDI:: NC_000008.11:52539842:A:G
Gene:: ALKAL1 (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_000008.11:g.52539843A>G, NC_000008.10:g.53452403A>G, NM_207413.4:c.313T>C, NM_207413.3:c.313T>C, NP_997296.1:p.Ser105Pro

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