SNP Links for Protein (Select 18079216) - SNP

Links from Protein

Items: 1 to 20 of 1797

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Select item 14909566931.

rs1490956693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2179099 (GRCh38)
16:2229100 (GRCh37)
Canonical SPDI:: NC_000016.10:2179098:G:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2179099G>C, NC_000016.9:g.2229100G>C, NM_020764.4:c.4002C>G, NM_020764.3:c.4002C>G, XM_024450361.2:c.3789C>G, XM_024450361.1:c.3789C>G

Select item 14905742362.

rs1490574236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2180372 (GRCh38)
16:2230373 (GRCh37)
Canonical SPDI:: NC_000016.10:2180371:C:A
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2180372C>A, NC_000016.9:g.2230373C>A, NM_020764.4:c.2996G>T, NM_020764.3:c.2996G>T, XM_024450361.2:c.2783G>T, XM_024450361.1:c.2783G>T, NP_065815.1:p.Gly999Val, XP_024306129.1:p.Gly928Val

Select item 14900060093.

rs1490006009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2181574 (GRCh38)
16:2231575 (GRCh37)
Canonical SPDI:: NC_000016.10:2181573:A:G
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000053/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2181574A>G, NC_000016.9:g.2231575A>G, NM_020764.4:c.1794T>C, NM_020764.3:c.1794T>C, XM_024450361.2:c.1581T>C, XM_024450361.1:c.1581T>C

Select item 14899771594.

rs1489977159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2181121 (GRCh38)
16:2231122 (GRCh37)
Canonical SPDI:: NC_000016.10:2181120:G:A,NC_000016.10:2181120:G:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2181121G>A, NC_000016.10:g.2181121G>C, NC_000016.9:g.2231122G>A, NC_000016.9:g.2231122G>C, NM_020764.4:c.2247C>T, NM_020764.4:c.2247C>G, NM_020764.3:c.2247C>T, NM_020764.3:c.2247C>G, XM_024450361.2:c.2034C>T, XM_024450361.2:c.2034C>G, XM_024450361.1:c.2034C>T, XM_024450361.1:c.2034C>G, NP_065815.1:p.His749Gln, XP_024306129.1:p.His678Gln

Select item 14895075245.

rs1489507524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2181562 (GRCh38)
16:2231563 (GRCh37)
Canonical SPDI:: NC_000016.10:2181561:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.2181562C>T, NC_000016.9:g.2231563C>T, NM_020764.4:c.1806G>A, NM_020764.3:c.1806G>A, XM_024450361.2:c.1593G>A, XM_024450361.1:c.1593G>A

Select item 14891435556.

rs1489143555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2180117 (GRCh38)
16:2230118 (GRCh37)
Canonical SPDI:: NC_000016.10:2180116:G:A,NC_000016.10:2180116:G:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.2180117G>A, NC_000016.10:g.2180117G>C, NC_000016.9:g.2230118G>A, NC_000016.9:g.2230118G>C, NM_020764.4:c.3251C>T, NM_020764.4:c.3251C>G, NM_020764.3:c.3251C>T, NM_020764.3:c.3251C>G, XM_024450361.2:c.3038C>T, XM_024450361.2:c.3038C>G, XM_024450361.1:c.3038C>T, XM_024450361.1:c.3038C>G, NP_065815.1:p.Ser1084Leu, NP_065815.1:p.Ser1084Trp, XP_024306129.1:p.Ser1013Leu, XP_024306129.1:p.Ser1013Trp

Select item 14890817817.

rs1489081781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 16:2178973 (GRCh38)
16:2228974 (GRCh37)
Canonical SPDI:: NC_000016.10:2178972:T:A,NC_000016.10:2178972:T:G
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2178973T>A, NC_000016.10:g.2178973T>G, NC_000016.9:g.2228974T>A, NC_000016.9:g.2228974T>G, NM_020764.4:c.4128A>T, NM_020764.4:c.4128A>C, NM_020764.3:c.4128A>T, NM_020764.3:c.4128A>C, XM_024450361.2:c.3915A>T, XM_024450361.2:c.3915A>C, XM_024450361.1:c.3915A>T, XM_024450361.1:c.3915A>C

Select item 14873570958.

rs1487357095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:2190117 (GRCh38)
16:2240118 (GRCh37)
Canonical SPDI:: NC_000016.10:2190116:A:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2190117A>C, NC_000016.9:g.2240118A>C, NM_020764.4:c.200T>G, NM_020764.3:c.200T>G, XM_024450361.2:c.200T>G, XM_024450361.1:c.200T>G, NP_065815.1:p.Leu67Arg, XP_024306129.1:p.Leu67Arg

Select item 14867795929.

rs1486779592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2179774 (GRCh38)
16:2229775 (GRCh37)
Canonical SPDI:: NC_000016.10:2179773:G:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.2179774G>C, NC_000016.9:g.2229775G>C, NM_020764.4:c.3594C>G, NM_020764.3:c.3594C>G, XM_024450361.2:c.3381C>G, XM_024450361.1:c.3381C>G

Select item 148645214310.

rs1486452143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2179084 (GRCh38)
16:2229085 (GRCh37)
Canonical SPDI:: NC_000016.10:2179083:G:A
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000015/2 (GnomAD)
A=0.00046/8 (TOMMO)
HGVS:: NC_000016.10:g.2179084G>A, NC_000016.9:g.2229085G>A, NM_020764.4:c.4017C>T, NM_020764.3:c.4017C>T, XM_024450361.2:c.3804C>T, XM_024450361.1:c.3804C>T

Select item 148607977411.

rs1486079774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2179029 (GRCh38)
16:2229030 (GRCh37)
Canonical SPDI:: NC_000016.10:2179028:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.2179029C>T, NC_000016.9:g.2229030C>T, NM_020764.4:c.4072G>A, NM_020764.3:c.4072G>A, XM_024450361.2:c.3859G>A, XM_024450361.1:c.3859G>A, NP_065815.1:p.Ala1358Thr, XP_024306129.1:p.Ala1287Thr

Select item 148513473812.

rs1485134738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2179748 (GRCh38)
16:2229749 (GRCh37)
Canonical SPDI:: NC_000016.10:2179747:T:C
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2179748T>C, NC_000016.9:g.2229749T>C, NM_020764.4:c.3620A>G, NM_020764.3:c.3620A>G, XM_024450361.2:c.3407A>G, XM_024450361.1:c.3407A>G, NP_065815.1:p.His1207Arg, XP_024306129.1:p.His1136Arg

Select item 148480028113.

rs1484800281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:2179130 (GRCh38)
16:2229131 (GRCh37)
Canonical SPDI:: NC_000016.10:2179129:C:A,NC_000016.10:2179129:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.2179130C>A, NC_000016.10:g.2179130C>T, NC_000016.9:g.2229131C>A, NC_000016.9:g.2229131C>T, NM_020764.4:c.3971G>T, NM_020764.4:c.3971G>A, NM_020764.3:c.3971G>T, NM_020764.3:c.3971G>A, XM_024450361.2:c.3758G>T, XM_024450361.2:c.3758G>A, XM_024450361.1:c.3758G>T, XM_024450361.1:c.3758G>A, NP_065815.1:p.Ser1324Ile, NP_065815.1:p.Ser1324Asn, XP_024306129.1:p.Ser1253Ile, XP_024306129.1:p.Ser1253Asn

Select item 148460146514.

rs1484601465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2180102 (GRCh38)
16:2230103 (GRCh37)
Canonical SPDI:: NC_000016.10:2180101:G:A
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.2180102G>A, NC_000016.9:g.2230103G>A, NM_020764.4:c.3266C>T, NM_020764.3:c.3266C>T, XM_024450361.2:c.3053C>T, XM_024450361.1:c.3053C>T, NP_065815.1:p.Pro1089Leu, XP_024306129.1:p.Pro1018Leu

Select item 148458593015.

rs1484585930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2187189 (GRCh38)
16:2237190 (GRCh37)
Canonical SPDI:: NC_000016.10:2187188:C:G,NC_000016.10:2187188:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2187189C>G, NC_000016.10:g.2187189C>T, NC_000016.9:g.2237190C>G, NC_000016.9:g.2237190C>T, NM_020764.4:c.812G>C, NM_020764.4:c.812G>A, NM_020764.3:c.812G>C, NM_020764.3:c.812G>A, XM_024450361.2:c.812G>C, XM_024450361.2:c.812G>A, XM_024450361.1:c.812G>C, XM_024450361.1:c.812G>A, NP_065815.1:p.Arg271Thr, NP_065815.1:p.Arg271Lys, XP_024306129.1:p.Arg271Thr, XP_024306129.1:p.Arg271Lys

Select item 148420371816.

rs1484203718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2179975 (GRCh38)
16:2229976 (GRCh37)
Canonical SPDI:: NC_000016.10:2179974:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.2179975C>T, NC_000016.9:g.2229976C>T, NM_020764.4:c.3393G>A, NM_020764.3:c.3393G>A, XM_024450361.2:c.3180G>A, XM_024450361.1:c.3180G>A

Select item 148393837917.

rs1483938379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:2180428 (GRCh38)
16:2230429 (GRCh37)
Canonical SPDI:: NC_000016.10:2180427:C:G
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.2180428C>G, NC_000016.9:g.2230429C>G, NM_020764.4:c.2940G>C, NM_020764.3:c.2940G>C, XM_024450361.2:c.2727G>C, XM_024450361.1:c.2727G>C

Select item 148295469318.

rs1482954693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2180665 (GRCh38)
16:2230666 (GRCh37)
Canonical SPDI:: NC_000016.10:2180664:A:G
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2180665A>G, NC_000016.9:g.2230666A>G, NM_020764.4:c.2703T>C, NM_020764.3:c.2703T>C, XM_024450361.2:c.2490T>C, XM_024450361.1:c.2490T>C

Select item 148251285619.

rs1482512856 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCGGCGCAGGGGGCCC>- [Show Flanks]
Chromosome:: 16:2181506 (GRCh38)
16:2231507 (GRCh37)
Canonical SPDI:: NC_000016.10:2181503:CCTTCCGGCGCAGGGGGCCC:CC
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2181506_2181523del, NC_000016.9:g.2231507_2231524del, NM_020764.4:c.1847_1864del, NM_020764.3:c.1847_1864del, XM_024450361.2:c.1634_1651del, XM_024450361.1:c.1634_1651del, NP_065815.1:p.Gly616_Lys621del, XP_024306129.1:p.Gly545_Lys550del

Select item 148230871820.

rs1482308718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2189495 (GRCh38)
16:2239496 (GRCh37)
Canonical SPDI:: NC_000016.10:2189494:C:T
Gene:: CASKIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2189495C>T, NC_000016.9:g.2239496C>T, NM_020764.4:c.314G>A, NM_020764.3:c.314G>A, XM_024450361.2:c.314G>A, XM_024450361.1:c.314G>A, NP_065815.1:p.Gly105Asp, XP_024306129.1:p.Gly105Asp

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