SNP Links for Protein (Select 40254482) - SNP

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Links from Protein

Items: 1 to 20 of 100

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Select item 14869797971.

rs1486979797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103660467 (GRCh38)
1:104203089 (GRCh37)
Canonical SPDI:: NC_000001.11:103660466:C:T
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103660467C>T, NC_000001.10:g.104203089C>T, NM_004038.4:c.986C>T, NM_004038.3:c.986C>T, NM_001008219.2:c.986C>T, NM_001008219.3:c.986C>T, NM_001008219.1:c.986C>T, NM_001008218.1:c.986C>T, NM_001008218.2:c.986C>T, NM_001008221.1:c.986C>T, NP_004029.2:p.Thr329Ile, NP_001008222.1:p.Thr329Ile

Select item 14865259622.

rs1486525962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:103660644 (GRCh38)
1:104203266 (GRCh37)
Canonical SPDI:: NC_000001.11:103660643:T:G
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660644T>G, NC_000001.10:g.104203266T>G, NM_004038.4:c.1069T>G, NM_004038.3:c.1069T>G, NM_001008219.2:c.1069T>G, NM_001008219.3:c.1069T>G, NM_001008219.1:c.1069T>G, NM_001008218.1:c.1069T>G, NM_001008218.2:c.1069T>G, NM_001008221.1:c.1069T>G, NP_004029.2:p.Tyr357Asp, NP_001008222.1:p.Tyr357Asp

Select item 14846616623.

rs1484661662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:103662956 (GRCh38)
1:104205578 (GRCh37)
Canonical SPDI:: NC_000001.11:103662955:C:G
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.103662956C>G, NC_000001.10:g.104205578C>G, NM_004038.4:c.1291C>G, NM_004038.3:c.1291C>G, NM_001008219.2:c.1291C>G, NM_001008219.3:c.1291C>G, NM_001008219.1:c.1291C>G, NM_001008218.1:c.1291C>G, NM_001008218.2:c.1291C>G, NM_001008221.1:c.1291C>G, NP_004029.2:p.Gln431Glu, NP_001008222.1:p.Gln431Glu

Select item 14808453394.

rs1480845339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103662740 (GRCh38)
1:104205362 (GRCh37)
Canonical SPDI:: NC_000001.11:103662739:T:C
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.103662740T>C, NC_000001.10:g.104205362T>C, NM_004038.4:c.1185T>C, NM_004038.3:c.1185T>C, NM_001008219.2:c.1185T>C, NM_001008219.3:c.1185T>C, NM_001008219.1:c.1185T>C, NM_001008218.1:c.1185T>C, NM_001008218.2:c.1185T>C, NM_001008221.1:c.1185T>C

Select item 14685784765.

rs1468578476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103662764 (GRCh38)
1:104205386 (GRCh37)
Canonical SPDI:: NC_000001.11:103662763:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000001.11:g.103662764G>A, NC_000001.10:g.104205386G>A, NM_004038.4:c.1209G>A, NM_004038.3:c.1209G>A, NM_001008219.2:c.1209G>A, NM_001008219.3:c.1209G>A, NM_001008219.1:c.1209G>A, NM_001008218.1:c.1209G>A, NM_001008218.2:c.1209G>A, NM_001008221.1:c.1209G>A, NP_004029.2:p.Trp403Ter, NP_001008222.1:p.Trp403Ter

Select item 14564761186.

rs1456476118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103662766 (GRCh38)
1:104205388 (GRCh37)
Canonical SPDI:: NC_000001.11:103662765:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.103662766G>A, NC_000001.10:g.104205388G>A, NM_004038.4:c.1211G>A, NM_004038.3:c.1211G>A, NM_001008219.2:c.1211G>A, NM_001008219.3:c.1211G>A, NM_001008219.1:c.1211G>A, NM_001008218.1:c.1211G>A, NM_001008218.2:c.1211G>A, NM_001008221.1:c.1211G>A, NP_004029.2:p.Arg404His, NP_001008222.1:p.Arg404His

Select item 14447018757.

rs1444701875 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103660440 (GRCh38)
1:104203062 (GRCh37)
Canonical SPDI:: NC_000001.11:103660439:A:G
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
HGVS:: NC_000001.11:g.103660440A>G, NC_000001.10:g.104203062A>G, NM_004038.4:c.959A>G, NM_004038.3:c.959A>G, NM_001008219.2:c.959A>G, NM_001008219.3:c.959A>G, NM_001008219.1:c.959A>G, NM_001008218.1:c.959A>G, NM_001008218.2:c.959A>G, NM_001008221.1:c.959A>G, NP_004029.2:p.His320Arg, NP_001008222.1:p.His320Arg

Select item 14301330618.

rs1430133061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103660590 (GRCh38)
1:104203212 (GRCh37)
Canonical SPDI:: NC_000001.11:103660589:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.103660590G>A, NC_000001.10:g.104203212G>A, NM_004038.4:c.1015G>A, NM_004038.3:c.1015G>A, NM_001008219.2:c.1015G>A, NM_001008219.3:c.1015G>A, NM_001008219.1:c.1015G>A, NM_001008218.1:c.1015G>A, NM_001008218.2:c.1015G>A, NM_001008221.1:c.1015G>A, NP_004029.2:p.Ala339Thr, NP_001008222.1:p.Ala339Thr

Select item 14234288929.

rs1423428892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:103660653 (GRCh38)
1:104203275 (GRCh37)
Canonical SPDI:: NC_000001.11:103660652:C:G,NC_000001.11:103660652:C:T
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660653C>G, NC_000001.11:g.103660653C>T, NC_000001.10:g.104203275C>G, NC_000001.10:g.104203275C>T, NM_004038.4:c.1078C>G, NM_004038.4:c.1078C>T, NM_004038.3:c.1078C>G, NM_004038.3:c.1078C>T, NM_001008219.2:c.1078C>G, NM_001008219.2:c.1078C>T, NM_001008219.3:c.1078C>G, NM_001008219.3:c.1078C>T, NM_001008219.1:c.1078C>G, NM_001008219.1:c.1078C>T, NM_001008218.1:c.1078C>G, NM_001008218.1:c.1078C>T, NM_001008218.2:c.1078C>G, NM_001008218.2:c.1078C>T, NM_001008221.1:c.1078C>G, NM_001008221.1:c.1078C>T, NP_004029.2:p.Pro360Ala, NP_004029.2:p.Pro360Ser, NP_001008222.1:p.Pro360Ala, NP_001008222.1:p.Pro360Ser

Select item 142286368710.

rs1422863687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103660618 (GRCh38)
1:104203240 (GRCh37)
Canonical SPDI:: NC_000001.11:103660617:A:G
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.103660618A>G, NC_000001.10:g.104203240A>G, NM_004038.4:c.1043A>G, NM_004038.3:c.1043A>G, NM_001008219.2:c.1043A>G, NM_001008219.3:c.1043A>G, NM_001008219.1:c.1043A>G, NM_001008218.1:c.1043A>G, NM_001008218.2:c.1043A>G, NM_001008221.1:c.1043A>G, NP_004029.2:p.Tyr348Cys, NP_001008222.1:p.Tyr348Cys

Select item 142260243511.

rs1422602435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103660579 (GRCh38)
1:104203201 (GRCh37)
Canonical SPDI:: NC_000001.11:103660578:T:C
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.103660579T>C, NC_000001.10:g.104203201T>C, NM_004038.4:c.1004T>C, NM_004038.3:c.1004T>C, NM_001008219.2:c.1004T>C, NM_001008219.3:c.1004T>C, NM_001008219.1:c.1004T>C, NM_001008218.1:c.1004T>C, NM_001008218.2:c.1004T>C, NM_001008221.1:c.1004T>C, NP_004029.2:p.Leu335Pro, NP_001008222.1:p.Leu335Pro

Select item 141833996412.

rs1418339964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103660594 (GRCh38)
1:104203216 (GRCh37)
Canonical SPDI:: NC_000001.11:103660593:T:C
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660594T>C, NC_000001.10:g.104203216T>C, NM_004038.4:c.1019T>C, NM_004038.3:c.1019T>C, NM_001008219.2:c.1019T>C, NM_001008219.3:c.1019T>C, NM_001008219.1:c.1019T>C, NM_001008218.1:c.1019T>C, NM_001008218.2:c.1019T>C, NM_001008221.1:c.1019T>C, NP_004029.2:p.Val340Ala, NP_001008222.1:p.Val340Ala

Select item 141708459513.

rs1417084595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103660604 (GRCh38)
1:104203226 (GRCh37)
Canonical SPDI:: NC_000001.11:103660603:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660604G>A, NC_000001.10:g.104203226G>A, NM_004038.4:c.1029G>A, NM_004038.3:c.1029G>A, NM_001008219.2:c.1029G>A, NM_001008219.3:c.1029G>A, NM_001008219.1:c.1029G>A, NM_001008218.1:c.1029G>A, NM_001008218.2:c.1029G>A, NM_001008221.1:c.1029G>A, NP_004029.2:p.Met343Ile, NP_001008222.1:p.Met343Ile

Select item 141477037914.

rs1414770379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:103662730 (GRCh38)
1:104205352 (GRCh37)
Canonical SPDI:: NC_000001.11:103662729:C:A
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.103662730C>A, NC_000001.10:g.104205352C>A, NM_004038.4:c.1175C>A, NM_004038.3:c.1175C>A, NM_001008219.2:c.1175C>A, NM_001008219.3:c.1175C>A, NM_001008219.1:c.1175C>A, NM_001008218.1:c.1175C>A, NM_001008218.2:c.1175C>A, NM_001008221.1:c.1175C>A, NP_004029.2:p.Thr392Asn, NP_001008222.1:p.Thr392Asn

Select item 139942694215.

rs1399426942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103660437 (GRCh38)
1:104203059 (GRCh37)
Canonical SPDI:: NC_000001.11:103660436:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.103660437G>A, NC_000001.10:g.104203059G>A, NM_004038.4:c.956G>A, NM_004038.3:c.956G>A, NM_001008219.2:c.956G>A, NM_001008219.3:c.956G>A, NM_001008219.1:c.956G>A, NM_001008218.1:c.956G>A, NM_001008218.2:c.956G>A, NM_001008221.1:c.956G>A, NP_004029.2:p.Gly319Glu, NP_001008222.1:p.Gly319Glu

Select item 139772092416.

rs1397720924 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:103662974 (GRCh38)
1:104205596 (GRCh37)
Canonical SPDI:: NC_000001.11:103662973:GG:G
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.103662975del, NC_000001.10:g.104205597del, NM_004038.4:c.1310del, NM_004038.3:c.1310del, NM_001008219.2:c.1310del, NM_001008219.3:c.1310del, NM_001008219.1:c.1310del, NM_001008218.1:c.1310del, NM_001008218.2:c.1310del, NM_001008221.1:c.1310del, NP_004029.2:p.Gly437fs, NP_001008222.1:p.Gly437fs

Select item 139655164817.

rs1396551648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103660400 (GRCh38)
1:104203022 (GRCh37)
Canonical SPDI:: NC_000001.11:103660399:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.103660400G>A, NC_000001.10:g.104203022G>A, NM_004038.4:c.919G>A, NM_004038.3:c.919G>A, NM_001008219.2:c.919G>A, NM_001008219.3:c.919G>A, NM_001008219.1:c.919G>A, NM_001008218.1:c.919G>A, NM_001008218.2:c.919G>A, NM_001008221.1:c.919G>A, NP_004029.2:p.Ala307Thr, NP_001008222.1:p.Ala307Thr

Select item 138728111218.

rs1387281112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103660587 (GRCh38)
1:104203209 (GRCh37)
Canonical SPDI:: NC_000001.11:103660586:A:G
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.103660587A>G, NC_000001.10:g.104203209A>G, NM_004038.4:c.1012A>G, NM_004038.3:c.1012A>G, NM_001008219.2:c.1012A>G, NM_001008219.3:c.1012A>G, NM_001008219.1:c.1012A>G, NM_001008218.1:c.1012A>G, NM_001008218.2:c.1012A>G, NM_001008221.1:c.1012A>G, NP_004029.2:p.Met338Val, NP_001008222.1:p.Met338Val

Select item 137623597719.

rs1376235977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103660443 (GRCh38)
1:104203065 (GRCh37)
Canonical SPDI:: NC_000001.11:103660442:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660443G>A, NC_000001.10:g.104203065G>A, NM_004038.4:c.962G>A, NM_004038.3:c.962G>A, NM_001008219.2:c.962G>A, NM_001008219.3:c.962G>A, NM_001008219.1:c.962G>A, NM_001008218.1:c.962G>A, NM_001008218.2:c.962G>A, NM_001008221.1:c.962G>A, NP_004029.2:p.Gly321Asp, NP_001008222.1:p.Gly321Asp

Select item 135649360820.

rs1356493608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:103660597 (GRCh38)
1:104203219 (GRCh37)
Canonical SPDI:: NC_000001.11:103660596:G:A,NC_000001.11:103660596:G:C
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660597G>A, NC_000001.11:g.103660597G>C, NC_000001.10:g.104203219G>A, NC_000001.10:g.104203219G>C, NM_004038.4:c.1022G>A, NM_004038.4:c.1022G>C, NM_004038.3:c.1022G>A, NM_004038.3:c.1022G>C, NM_001008219.2:c.1022G>A, NM_001008219.2:c.1022G>C, NM_001008219.3:c.1022G>A, NM_001008219.3:c.1022G>C, NM_001008219.1:c.1022G>A, NM_001008219.1:c.1022G>C, NM_001008218.1:c.1022G>A, NM_001008218.1:c.1022G>C, NM_001008218.2:c.1022G>A, NM_001008218.2:c.1022G>C, NM_001008221.1:c.1022G>A, NM_001008221.1:c.1022G>C, NP_004029.2:p.Gly341Glu, NP_004029.2:p.Gly341Ala, NP_001008222.1:p.Gly341Glu, NP_001008222.1:p.Gly341Ala

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