SNP Links for Protein (Select 126723149) - SNP

Links from Protein

Items: 1 to 20 of 886

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Select item 14896466521.

rs1489646652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:3614520 (GRCh38)
19:3614518 (GRCh37)
Canonical SPDI:: NC_000019.10:3614519:T:C
Gene:: CACTIN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.3614520T>C, NC_000019.9:g.3614518T>C, XM_011528160.3:c.1232A>G, XM_011528160.2:c.1232A>G, XM_011528160.1:c.1232A>G, NM_001080543.2:c.1232A>G, NM_001080543.1:c.1232A>G, NM_021231.2:c.1232A>G, NM_021231.1:c.1232A>G, XP_011526462.1:p.Tyr411Cys, NP_001074012.1:p.Tyr411Cys, NP_067054.1:p.Tyr411Cys

Select item 14889282242.

rs1488928224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3613170 (GRCh38)
19:3613168 (GRCh37)
Canonical SPDI:: NC_000019.10:3613169:C:T
Gene:: CACTIN (Varview), CACTIN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.3613170C>T, NC_000019.9:g.3613168C>T, NM_001080543.2:c.1674G>A, NM_001080543.1:c.1674G>A, NM_021231.2:c.1674G>A, NM_021231.1:c.1674G>A, NR_038865.1:n.1153C>T, NM_001012712.1:c.*260C>T

Select item 14880447353.

rs1488044735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:3626743 (GRCh38)
19:3626741 (GRCh37)
Canonical SPDI:: NC_000019.10:3626742:G:C
Gene:: CACTIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3626743G>C, NC_000019.9:g.3626741G>C, XM_011528161.3:c.20C>G, XM_011528161.2:c.20C>G, XM_011528161.1:c.20C>G, XM_011528160.3:c.20C>G, XM_011528160.2:c.20C>G, XM_011528160.1:c.20C>G, NM_001080543.2:c.20C>G, NM_001080543.1:c.20C>G, NM_021231.2:c.20C>G, NM_021231.1:c.20C>G, XP_011526463.1:p.Ser7Trp, XP_011526462.1:p.Ser7Trp, NP_001074012.1:p.Ser7Trp, NP_067054.1:p.Ser7Trp

Select item 14863378034.

rs1486337803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3613301 (GRCh38)
19:3613299 (GRCh37)
Canonical SPDI:: NC_000019.10:3613300:C:T
Gene:: CACTIN (Varview), CACTIN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.3613301C>T, NC_000019.9:g.3613299C>T, NM_001080543.2:c.1543G>A, NM_001080543.1:c.1543G>A, NM_021231.2:c.1543G>A, NM_021231.1:c.1543G>A, NR_038865.1:n.1284C>T, NM_001012712.1:c.*391C>T, NP_001074012.1:p.Ala515Thr, NP_067054.1:p.Ala515Thr

Select item 14836844665.

rs1483684466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3613520 (GRCh38)
19:3613518 (GRCh37)
Canonical SPDI:: NC_000019.10:3613519:C:T
Gene:: CACTIN (Varview), CACTIN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3613520C>T, NC_000019.9:g.3613518C>T, XM_011528160.3:c.*74G>A, XM_011528160.2:c.*74G>A, XM_011528160.1:c.*74G>A, NM_001080543.2:c.1422G>A, NM_001080543.1:c.1422G>A, NM_021231.2:c.1422G>A, NM_021231.1:c.1422G>A, NR_038865.1:n.1503C>T, NM_001012712.1:c.*610C>T

Select item 14835293716.

rs1483529371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3624027 (GRCh38)
19:3624025 (GRCh37)
Canonical SPDI:: NC_000019.10:3624026:G:A
Gene:: CACTIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.3624027G>A, NC_000019.9:g.3624025G>A, XM_011528161.3:c.303C>T, XM_011528161.2:c.303C>T, XM_011528161.1:c.303C>T, XM_011528160.3:c.303C>T, XM_011528160.2:c.303C>T, XM_011528160.1:c.303C>T, NM_001080543.2:c.303C>T, NM_001080543.1:c.303C>T, NM_021231.2:c.303C>T, NM_021231.1:c.303C>T

Select item 14821187537.

rs1482118753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3614469 (GRCh38)
19:3614467 (GRCh37)
Canonical SPDI:: NC_000019.10:3614468:C:T
Gene:: CACTIN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.3614469C>T, NC_000019.9:g.3614467C>T, XM_011528160.3:c.1283G>A, XM_011528160.2:c.1283G>A, XM_011528160.1:c.1283G>A, NM_001080543.2:c.1283G>A, NM_001080543.1:c.1283G>A, NM_021231.2:c.1283G>A, NM_021231.1:c.1283G>A, XP_011526462.1:p.Gly428Asp, NP_001074012.1:p.Gly428Asp, NP_067054.1:p.Gly428Asp

Select item 14819433108.

rs1481943310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3626673 (GRCh38)
19:3626671 (GRCh37)
Canonical SPDI:: NC_000019.10:3626672:C:T
Gene:: CACTIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.3626673C>T, NC_000019.9:g.3626671C>T, XM_011528161.3:c.90G>A, XM_011528161.2:c.90G>A, XM_011528161.1:c.90G>A, XM_011528160.3:c.90G>A, XM_011528160.2:c.90G>A, XM_011528160.1:c.90G>A, NM_001080543.2:c.90G>A, NM_001080543.1:c.90G>A, NM_021231.2:c.90G>A, NM_021231.1:c.90G>A

Select item 14818933139.

rs1481893313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:3623816 (GRCh38)
19:3623814 (GRCh37)
Canonical SPDI:: NC_000019.10:3623815:C:A,NC_000019.10:3623815:C:T
Gene:: CACTIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3623816C>A, NC_000019.10:g.3623816C>T, NC_000019.9:g.3623814C>A, NC_000019.9:g.3623814C>T, XM_011528161.3:c.514G>T, XM_011528161.3:c.514G>A, XM_011528161.2:c.514G>T, XM_011528161.2:c.514G>A, XM_011528161.1:c.514G>T, XM_011528161.1:c.514G>A, XM_011528160.3:c.514G>T, XM_011528160.3:c.514G>A, XM_011528160.2:c.514G>T, XM_011528160.2:c.514G>A, XM_011528160.1:c.514G>T, XM_011528160.1:c.514G>A, NM_001080543.2:c.514G>T, NM_001080543.2:c.514G>A, NM_001080543.1:c.514G>T, NM_001080543.1:c.514G>A, NM_021231.2:c.514G>T, NM_021231.2:c.514G>A, NM_021231.1:c.514G>T, NM_021231.1:c.514G>A, XP_011526463.1:p.Ala172Ser, XP_011526463.1:p.Ala172Thr, XP_011526462.1:p.Ala172Ser, XP_011526462.1:p.Ala172Thr, NP_001074012.1:p.Ala172Ser, NP_001074012.1:p.Ala172Thr, NP_067054.1:p.Ala172Ser, NP_067054.1:p.Ala172Thr

Select item 148172911310.

rs1481729113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:3613147 (GRCh38)
19:3613145 (GRCh37)
Canonical SPDI:: NC_000019.10:3613146:G:A,NC_000019.10:3613146:G:T
Gene:: CACTIN (Varview), CACTIN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.3613147G>A, NC_000019.10:g.3613147G>T, NC_000019.9:g.3613145G>A, NC_000019.9:g.3613145G>T, NM_001080543.2:c.1697C>T, NM_001080543.2:c.1697C>A, NM_001080543.1:c.1697C>T, NM_001080543.1:c.1697C>A, NM_021231.2:c.1697C>T, NM_021231.2:c.1697C>A, NM_021231.1:c.1697C>T, NM_021231.1:c.1697C>A, NR_038865.1:n.1130G>A, NR_038865.1:n.1130G>T, NM_001012712.1:c.*237G>A, NM_001012712.1:c.*237G>T, NP_001074012.1:p.Ala566Val, NP_001074012.1:p.Ala566Glu, NP_067054.1:p.Ala566Val, NP_067054.1:p.Ala566Glu

Select item 148132504311.

rs1481325043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3623799 (GRCh38)
19:3623797 (GRCh37)
Canonical SPDI:: NC_000019.10:3623798:C:T
Gene:: CACTIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3623799C>T, NC_000019.9:g.3623797C>T, XM_011528161.3:c.531G>A, XM_011528161.2:c.531G>A, XM_011528161.1:c.531G>A, XM_011528160.3:c.531G>A, XM_011528160.2:c.531G>A, XM_011528160.1:c.531G>A, NM_001080543.2:c.531G>A, NM_001080543.1:c.531G>A, NM_021231.2:c.531G>A, NM_021231.1:c.531G>A

Select item 147967495112.

rs1479674951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:3612069 (GRCh38)
19:3612067 (GRCh37)
Canonical SPDI:: NC_000019.10:3612068:G:T
Gene:: CACTIN (Varview), CACTIN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.3612069G>T, NC_000019.9:g.3612067G>T, NM_001080543.2:c.2131C>A, NM_001080543.1:c.2131C>A, NM_021231.2:c.2131C>A, NM_021231.1:c.2131C>A, NR_038865.1:n.533G>T, NM_001012712.1:c.276G>T, NP_001074012.1:p.His711Asn, NP_067054.1:p.His711Asn

Select item 147901341213.

rs1479013412 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCAGCCGCAGCCGCTCC [Show Flanks]
Chromosome:: 19:3623885 (GRCh38)
19:3623884 (GRCh37)
Canonical SPDI:: NC_000019.10:3623885:CTCCCGCAGCCGCAGCCGCTCC:CTCCCGCAGCCGCAGCCGCTCCCGCAGCCGCAGCCGCTCC
Gene:: CACTIN (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCCGCAGCCGCAGCCGCTCCCGCAGCCGCAGCCGCTCC=0.000084/1 (ALFA)
CTCCCGCAGCCGCAGCCG=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.3623890_3623907dup, NC_000019.9:g.3623888_3623905dup, XM_011528161.3:c.427_444dup, XM_011528161.2:c.427_444dup, XM_011528161.1:c.427_444dup, XM_011528160.3:c.427_444dup, XM_011528160.2:c.427_444dup, XM_011528160.1:c.427_444dup, NM_001080543.2:c.427_444dup, NM_001080543.1:c.427_444dup, NM_021231.2:c.427_444dup, NM_021231.1:c.427_444dup, XP_011526463.1:p.Arg143_Glu148dup, XP_011526462.1:p.Arg143_Glu148dup, NP_001074012.1:p.Arg143_Glu148dup, NP_067054.1:p.Arg143_Glu148dup

Select item 147652242914.

rs1476522429 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:3620174 (GRCh38)
19:3620172 (GRCh37)
Canonical SPDI:: NC_000019.10:3620173:T:C
Gene:: CACTIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.3620174T>C, NC_000019.9:g.3620172T>C, XM_011528161.3:c.837A>G, XM_011528161.2:c.837A>G, XM_011528161.1:c.837A>G, XM_011528160.3:c.837A>G, XM_011528160.2:c.837A>G, XM_011528160.1:c.837A>G, NM_001080543.2:c.837A>G, NM_001080543.1:c.837A>G, NM_021231.2:c.837A>G, NM_021231.1:c.837A>G

Select item 147575818215.

rs1475758182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCGTCCCCGTCGCCGTCGCCCTC>- [Show Flanks]
Chromosome:: 19:3613251 (GRCh38)
19:3613249 (GRCh37)
Canonical SPDI:: NC_000019.10:3613242:TCGCCCTCACCGTCCCCGTCGCCGTCGCCCTC:TCGCCCTC
Gene:: CACTIN (Varview), CACTIN-AS1 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCGCCCTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.3613251_3613274del, NC_000019.9:g.3613249_3613272del, NM_001080543.2:c.1578_1601del, NM_001080543.1:c.1578_1601del, NM_021231.2:c.1578_1601del, NM_021231.1:c.1578_1601del, NR_038865.1:n.1234_1257del, NM_001012712.1:c.*341_*364del, NP_001074012.1:p.Asp526_Gly533del, NP_067054.1:p.Asp526_Gly533del

Select item 147555040316.

rs1475550403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3612084 (GRCh38)
19:3612082 (GRCh37)
Canonical SPDI:: NC_000019.10:3612083:C:T
Gene:: CACTIN (Varview), CACTIN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3612084C>T, NC_000019.9:g.3612082C>T, NM_001080543.2:c.2116G>A, NM_001080543.1:c.2116G>A, NM_021231.2:c.2116G>A, NM_021231.1:c.2116G>A, NR_038865.1:n.548C>T, NM_001012712.1:c.291C>T, NP_001074012.1:p.Ala706Thr, NP_067054.1:p.Ala706Thr

Select item 147116250617.

rs1471162506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3620763 (GRCh38)
19:3620761 (GRCh37)
Canonical SPDI:: NC_000019.10:3620762:C:T
Gene:: CACTIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3620763C>T, NC_000019.9:g.3620761C>T, XM_011528161.3:c.682G>A, XM_011528161.2:c.682G>A, XM_011528161.1:c.682G>A, XM_011528160.3:c.682G>A, XM_011528160.2:c.682G>A, XM_011528160.1:c.682G>A, NM_001080543.2:c.682G>A, NM_001080543.1:c.682G>A, NM_021231.2:c.682G>A, NM_021231.1:c.682G>A, XP_011526463.1:p.Glu228Lys, XP_011526462.1:p.Glu228Lys, NP_001074012.1:p.Glu228Lys, NP_067054.1:p.Glu228Lys

Select item 146527964318.

rs1465279643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:3618945 (GRCh38)
19:3618943 (GRCh37)
Canonical SPDI:: NC_000019.10:3618944:C:A
Gene:: CACTIN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.3618945C>A, NC_000019.9:g.3618943C>A, XM_011528161.3:c.1092G>T, XM_011528161.2:c.1092G>T, XM_011528161.1:c.1092G>T, XM_011528160.3:c.1092G>T, XM_011528160.2:c.1092G>T, XM_011528160.1:c.1092G>T, NM_001080543.2:c.1092G>T, NM_001080543.1:c.1092G>T, NM_021231.2:c.1092G>T, NM_021231.1:c.1092G>T

Select item 146262682519.

rs1462626825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3623976 (GRCh38)
19:3623974 (GRCh37)
Canonical SPDI:: NC_000019.10:3623975:G:A
Gene:: CACTIN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.3623976G>A, NC_000019.9:g.3623974G>A, XM_011528161.3:c.354C>T, XM_011528161.2:c.354C>T, XM_011528161.1:c.354C>T, XM_011528160.3:c.354C>T, XM_011528160.2:c.354C>T, XM_011528160.1:c.354C>T, NM_001080543.2:c.354C>T, NM_001080543.1:c.354C>T, NM_021231.2:c.354C>T, NM_021231.1:c.354C>T

Select item 146250162320.

rs1462501623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:3620742 (GRCh38)
19:3620740 (GRCh37)
Canonical SPDI:: NC_000019.10:3620741:T:C
Gene:: CACTIN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.3620742T>C, NC_000019.9:g.3620740T>C, XM_011528161.3:c.703A>G, XM_011528161.2:c.703A>G, XM_011528161.1:c.703A>G, XM_011528160.3:c.703A>G, XM_011528160.2:c.703A>G, XM_011528160.1:c.703A>G, NM_001080543.2:c.703A>G, NM_001080543.1:c.703A>G, NM_021231.2:c.703A>G, NM_021231.1:c.703A>G, XP_011526463.1:p.Arg235Gly, XP_011526462.1:p.Arg235Gly, NP_001074012.1:p.Arg235Gly, NP_067054.1:p.Arg235Gly

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