SNP Links for Protein (Select 10047100) - SNP

Links from Protein

Items: 1 to 20 of 69

<< First< Prev

Page of 4

Next >Last >>

Select item 14826619281.

rs1482661928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103357793 (GRCh38)
X:102612721 (GRCh37)
Canonical SPDI:: NC_000023.11:103357792:G:A
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103357793G>A, NC_000023.10:g.102612721G>A, NM_016303.3:c.109G>A, NM_016303.2:c.109G>A, NM_001006612.2:c.109G>A, NM_001006612.1:c.109G>A, NM_001006613.2:c.109G>A, NM_001006613.1:c.109G>A, NM_001006614.2:c.109G>A, NM_001006614.1:c.109G>A, NP_057387.1:p.Glu37Lys, NP_001006613.1:p.Glu37Lys, NP_001006614.1:p.Glu37Lys, NP_001006615.1:p.Glu37Lys

Select item 14740014512.

rs1474001451 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:103357709 (GRCh38)
X:102612637 (GRCh37)
Canonical SPDI:: NC_000023.11:103357708:GG:G
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103357710del, NC_000023.10:g.102612638del, NM_016303.3:c.26del, NM_016303.2:c.26del, NM_001006612.2:c.26del, NM_001006612.1:c.26del, NM_001006613.2:c.26del, NM_001006613.1:c.26del, NM_001006614.2:c.26del, NM_001006614.1:c.26del, NP_057387.1:p.Gly9fs, NP_001006613.1:p.Gly9fs, NP_001006614.1:p.Gly9fs, NP_001006615.1:p.Gly9fs

Select item 14728019983.

rs1472801998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:103357717 (GRCh38)
X:102612645 (GRCh37)
Canonical SPDI:: NC_000023.11:103357716:A:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103357717A>C, NC_000023.10:g.102612645A>C, NM_016303.3:c.33A>C, NM_016303.2:c.33A>C, NM_001006612.2:c.33A>C, NM_001006612.1:c.33A>C, NM_001006613.2:c.33A>C, NM_001006613.1:c.33A>C, NM_001006614.2:c.33A>C, NM_001006614.1:c.33A>C

Select item 14707317634.

rs1470731763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103357862 (GRCh38)
X:102612790 (GRCh37)
Canonical SPDI:: NC_000023.11:103357861:A:G
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103357862A>G, NC_000023.10:g.102612790A>G, NM_016303.3:c.178A>G, NM_016303.2:c.178A>G, NM_001006612.2:c.178A>G, NM_001006612.1:c.178A>G, NM_001006613.2:c.178A>G, NM_001006613.1:c.178A>G, NM_001006614.2:c.178A>G, NM_001006614.1:c.178A>G, NP_057387.1:p.Ile60Val, NP_001006613.1:p.Ile60Val, NP_001006614.1:p.Ile60Val, NP_001006615.1:p.Ile60Val

Select item 14594971255.

rs1459497125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103357980 (GRCh38)
X:102612908 (GRCh37)
Canonical SPDI:: NC_000023.11:103357979:C:T
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103357980C>T, NC_000023.10:g.102612908C>T, NM_016303.3:c.296C>T, NM_016303.2:c.296C>T, NM_001006612.2:c.296C>T, NM_001006612.1:c.296C>T, NM_001006613.2:c.296C>T, NM_001006613.1:c.296C>T, NM_001006614.2:c.296C>T, NM_001006614.1:c.296C>T, NP_057387.1:p.Pro99Leu, NP_001006613.1:p.Pro99Leu, NP_001006614.1:p.Pro99Leu, NP_001006615.1:p.Pro99Leu

Select item 14320201506.

rs1432020150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103357995 (GRCh38)
X:102612923 (GRCh37)
Canonical SPDI:: NC_000023.11:103357994:T:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000023.11:g.103357995T>C, NC_000023.10:g.102612923T>C, NM_016303.3:c.311T>C, NM_016303.2:c.311T>C, NM_001006612.2:c.311T>C, NM_001006612.1:c.311T>C, NM_001006613.2:c.311T>C, NM_001006613.1:c.311T>C, NM_001006614.2:c.311T>C, NM_001006614.1:c.311T>C, NP_057387.1:p.Met104Thr, NP_001006613.1:p.Met104Thr, NP_001006614.1:p.Met104Thr, NP_001006615.1:p.Met104Thr

Select item 14276025017.

rs1427602501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:103357874 (GRCh38)
X:102612802 (GRCh37)
Canonical SPDI:: NC_000023.11:103357873:C:A
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103357874C>A, NC_000023.10:g.102612802C>A, NM_016303.3:c.190C>A, NM_016303.2:c.190C>A, NM_001006612.2:c.190C>A, NM_001006612.1:c.190C>A, NM_001006613.2:c.190C>A, NM_001006613.1:c.190C>A, NM_001006614.2:c.190C>A, NM_001006614.1:c.190C>A, NP_057387.1:p.His64Asn, NP_001006613.1:p.His64Asn, NP_001006614.1:p.His64Asn, NP_001006615.1:p.His64Asn

Select item 14140695248.

rs1414069524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103357693 (GRCh38)
X:102612621 (GRCh37)
Canonical SPDI:: NC_000023.11:103357692:C:T
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.103357693C>T, NC_000023.10:g.102612621C>T, NM_016303.3:c.9C>T, NM_016303.2:c.9C>T, NM_001006612.2:c.9C>T, NM_001006612.1:c.9C>T, NM_001006613.2:c.9C>T, NM_001006613.1:c.9C>T, NM_001006614.2:c.9C>T, NM_001006614.1:c.9C>T

Select item 14105486879.

rs1410548687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:103357917 (GRCh38)
X:102612845 (GRCh37)
Canonical SPDI:: NC_000023.11:103357916:A:T
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.103357917A>T, NC_000023.10:g.102612845A>T, NM_016303.3:c.233A>T, NM_016303.2:c.233A>T, NM_001006612.2:c.233A>T, NM_001006612.1:c.233A>T, NM_001006613.2:c.233A>T, NM_001006613.1:c.233A>T, NM_001006614.2:c.233A>T, NM_001006614.1:c.233A>T, NP_057387.1:p.Asp78Val, NP_001006613.1:p.Asp78Val, NP_001006614.1:p.Asp78Val, NP_001006615.1:p.Asp78Val

Select item 140928292710.

rs1409282927 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAC>- [Show Flanks]
Chromosome:: X:103357940 (GRCh38)
X:102612868 (GRCh37)
Canonical SPDI:: NC_000023.11:103357935:AAACAAAC:AAAC
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAAC=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103357936AAAC[1], NC_000023.10:g.102612864AAAC[1], NM_016303.3:c.256_259del, NM_016303.2:c.256_259del, NM_001006612.2:c.256_259del, NM_001006612.1:c.256_259del, NM_001006613.2:c.256_259del, NM_001006613.1:c.256_259del, NM_001006614.2:c.256_259del, NM_001006614.1:c.256_259del, NP_057387.1:p.Lys86fs, NP_001006613.1:p.Lys86fs, NP_001006614.1:p.Lys86fs, NP_001006615.1:p.Lys86fs

Select item 140839306411.

rs1408393064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103357893 (GRCh38)
X:102612821 (GRCh37)
Canonical SPDI:: NC_000023.11:103357892:T:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103357893T>C, NC_000023.10:g.102612821T>C, NM_016303.3:c.209T>C, NM_016303.2:c.209T>C, NM_001006612.2:c.209T>C, NM_001006612.1:c.209T>C, NM_001006613.2:c.209T>C, NM_001006613.1:c.209T>C, NM_001006614.2:c.209T>C, NM_001006614.1:c.209T>C, NP_057387.1:p.Met70Thr, NP_001006613.1:p.Met70Thr, NP_001006614.1:p.Met70Thr, NP_001006615.1:p.Met70Thr

Select item 139198889512.

rs1391988895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103357950 (GRCh38)
X:102612878 (GRCh37)
Canonical SPDI:: NC_000023.11:103357949:T:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103357950T>C, NC_000023.10:g.102612878T>C, NM_016303.3:c.266T>C, NM_016303.2:c.266T>C, NM_001006612.2:c.266T>C, NM_001006612.1:c.266T>C, NM_001006613.2:c.266T>C, NM_001006613.1:c.266T>C, NM_001006614.2:c.266T>C, NM_001006614.1:c.266T>C, NP_057387.1:p.Val89Ala, NP_001006613.1:p.Val89Ala, NP_001006614.1:p.Val89Ala, NP_001006615.1:p.Val89Ala

Select item 138505623813.

rs1385056238 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGCTAGAGGAGGAG>- [Show Flanks]
Chromosome:: X:103357784 (GRCh38)
X:102612712 (GRCh37)
Canonical SPDI:: NC_000023.11:103357773:AGAGGAGGAGAAGCTAGAGGAGGAG:AGAGGAGGAG
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: inframe_deletion,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103357784_103357798del, NC_000023.10:g.102612712_102612726del, NM_016303.3:c.100_114del, NM_016303.2:c.100_114del, NM_001006612.2:c.100_114del, NM_001006612.1:c.100_114del, NM_001006613.2:c.100_114del, NM_001006613.1:c.100_114del, NM_001006614.2:c.100_114del, NM_001006614.1:c.100_114del, NP_057387.1:p.Lys34_Glu38del, NP_001006613.1:p.Lys34_Glu38del, NP_001006614.1:p.Lys34_Glu38del, NP_001006615.1:p.Lys34_Glu38del

Select item 137050972614.

rs1370509726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103357706 (GRCh38)
X:102612634 (GRCh37)
Canonical SPDI:: NC_000023.11:103357705:G:A
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.103357706G>A, NC_000023.10:g.102612634G>A, NM_016303.3:c.22G>A, NM_016303.2:c.22G>A, NM_001006612.2:c.22G>A, NM_001006612.1:c.22G>A, NM_001006613.2:c.22G>A, NM_001006613.1:c.22G>A, NM_001006614.2:c.22G>A, NM_001006614.1:c.22G>A, NP_057387.1:p.Glu8Lys, NP_001006613.1:p.Glu8Lys, NP_001006614.1:p.Glu8Lys, NP_001006615.1:p.Glu8Lys

Select item 135381122215.

rs1353811222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:103357892 (GRCh38)
X:102612820 (GRCh37)
Canonical SPDI:: NC_000023.11:103357891:A:T
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.103357892A>T, NC_000023.10:g.102612820A>T, NM_016303.3:c.208A>T, NM_016303.2:c.208A>T, NM_001006612.2:c.208A>T, NM_001006612.1:c.208A>T, NM_001006613.2:c.208A>T, NM_001006613.1:c.208A>T, NM_001006614.2:c.208A>T, NM_001006614.1:c.208A>T, NP_057387.1:p.Met70Leu, NP_001006613.1:p.Met70Leu, NP_001006614.1:p.Met70Leu, NP_001006615.1:p.Met70Leu

Select item 135058049716.

rs1350580497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:103357887 (GRCh38)
X:102612815 (GRCh37)
Canonical SPDI:: NC_000023.11:103357886:A:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103357887A>C, NC_000023.10:g.102612815A>C, NM_016303.3:c.203A>C, NM_016303.2:c.203A>C, NM_001006612.2:c.203A>C, NM_001006612.1:c.203A>C, NM_001006613.2:c.203A>C, NM_001006613.1:c.203A>C, NM_001006614.2:c.203A>C, NM_001006614.1:c.203A>C, NP_057387.1:p.Glu68Ala, NP_001006613.1:p.Glu68Ala, NP_001006614.1:p.Glu68Ala, NP_001006615.1:p.Glu68Ala

Select item 133751623617.

rs1337516236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:103357771 (GRCh38)
X:102612699 (GRCh37)
Canonical SPDI:: NC_000023.11:103357770:A:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103357771A>C, NC_000023.10:g.102612699A>C, NM_016303.3:c.87A>C, NM_016303.2:c.87A>C, NM_001006612.2:c.87A>C, NM_001006612.1:c.87A>C, NM_001006613.2:c.87A>C, NM_001006613.1:c.87A>C, NM_001006614.2:c.87A>C, NM_001006614.1:c.87A>C

Select item 133653599818.

rs1336535998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:103357919 (GRCh38)
X:102612847 (GRCh37)
Canonical SPDI:: NC_000023.11:103357918:G:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103357919G>C, NC_000023.10:g.102612847G>C, NM_016303.3:c.235G>C, NM_016303.2:c.235G>C, NM_001006612.2:c.235G>C, NM_001006612.1:c.235G>C, NM_001006613.2:c.235G>C, NM_001006613.1:c.235G>C, NM_001006614.2:c.235G>C, NM_001006614.1:c.235G>C, NP_057387.1:p.Glu79Gln, NP_001006613.1:p.Glu79Gln, NP_001006614.1:p.Glu79Gln, NP_001006615.1:p.Glu79Gln

Select item 132749426419.

rs1327494264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:103357933 (GRCh38)
X:102612861 (GRCh37)
Canonical SPDI:: NC_000023.11:103357932:C:G
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.103357933C>G, NC_000023.10:g.102612861C>G, NM_016303.3:c.249C>G, NM_016303.2:c.249C>G, NM_001006612.2:c.249C>G, NM_001006612.1:c.249C>G, NM_001006613.2:c.249C>G, NM_001006613.1:c.249C>G, NM_001006614.2:c.249C>G, NM_001006614.1:c.249C>G

Select item 129023668920.

rs1290236689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:103357913 (GRCh38)
X:102612841 (GRCh37)
Canonical SPDI:: NC_000023.11:103357912:A:C
Gene:: TCEAL9 (Varview), LOC124905204 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.103357913A>C, NC_000023.10:g.102612841A>C, NM_016303.3:c.229A>C, NM_016303.2:c.229A>C, NM_001006612.2:c.229A>C, NM_001006612.1:c.229A>C, NM_001006613.2:c.229A>C, NM_001006613.1:c.229A>C, NM_001006614.2:c.229A>C, NM_001006614.1:c.229A>C, NP_057387.1:p.Ile77Leu, NP_001006613.1:p.Ile77Leu, NP_001006614.1:p.Ile77Leu, NP_001006615.1:p.Ile77Leu

<< First< Prev

Page of 4

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 69

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity