SNP Links for Protein (Select 31563392) - SNP

Links from Protein

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Select item 14904799331.

rs1490479933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66569940 (GRCh38)
16:66603843 (GRCh37)
Canonical SPDI:: NC_000016.10:66569939:T:C
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66569940T>C, NC_000016.9:g.66603843T>C, NM_052999.4:c.437T>C, NM_052999.3:c.437T>C, NM_181268.3:c.437T>C, NM_181268.2:c.437T>C, NM_181269.3:c.86T>C, NM_181269.2:c.86T>C, NM_181270.3:c.86T>C, NM_181270.2:c.86T>C, NM_181298.1:c.116T>C, NM_181299.1:c.116T>C, NM_181287.1:c.86T>C, NM_181288.1:c.86T>C, NM_181297.1:c.116T>C, NM_181300.1:c.116T>C, NM_181301.1:c.116T>C, NP_443725.3:p.Leu146Pro, NP_851785.2:p.Leu146Pro, NP_851786.1:p.Leu29Pro, NP_851787.1:p.Leu29Pro

Select item 14897166362.

rs1489716636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66578886 (GRCh38)
16:66612789 (GRCh37)
Canonical SPDI:: NC_000016.10:66578885:C:T
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_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_000016.10:g.66578886C>T, NC_000016.9:g.66612789C>T, NM_052999.4:c.746C>T, NM_052999.3:c.746C>T, NM_181268.3:c.*34C>T, NM_181268.2:c.*34C>T, NM_181269.3:c.395C>T, NM_181269.2:c.395C>T, NM_181270.3:c.*34C>T, NM_181270.2:c.*34C>T, NM_181271.3:c.254C>T, NM_181271.2:c.254C>T, NM_181272.3:c.236C>T, NM_181272.2:c.236C>T, NM_181283.3:c.*34C>T, NM_181283.2:c.*34C>T, NM_181296.3:c.*34C>T, NM_181296.2:c.*34C>T, NM_001204099.2:c.392C>T, NM_001204099.1:c.392C>T, NM_001204098.2:c.*34C>T, NM_001204098.1:c.*34C>T, NM_001202509.2:c.233C>T, NM_001202509.1:c.233C>T, NM_181298.1:c.*352C>T, NM_181299.1:c.*336C>T, NM_181293.1:c.*437C>T, NM_181287.1:c.*253C>T, NM_181288.1:c.*237C>T, NM_181297.1:c.*174C>T, NM_181300.1:c.*154C>T, NM_181301.1:c.*138C>T, NM_181285.1:c.*112C>T, NM_181292.1:c.*243C>T, NM_181286.1:c.*96C>T, NM_181290.1:c.*239C>T, NM_181294.1:c.*112C>T, NM_181295.1:c.*96C>T, NM_001040139.1:c.233C>T, NP_443725.3:p.Thr249Met, NP_851786.1:p.Thr132Met, NP_851788.1:p.Thr85Met, NP_851789.1:p.Thr79Met, NP_001191028.1:p.Thr131Met, NP_001189438.1:p.Thr78Met

Select item 14650625093.

rs1465062509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66578946 (GRCh38)
16:66612849 (GRCh37)
Canonical SPDI:: NC_000016.10:66578945:C:T
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66578946C>T, NC_000016.9:g.66612849C>T, NM_052999.4:c.806C>T, NM_052999.3:c.806C>T, NM_181268.3:c.*94C>T, NM_181268.2:c.*94C>T, NM_181269.3:c.455C>T, NM_181269.2:c.455C>T, NM_181270.3:c.*94C>T, NM_181270.2:c.*94C>T, NM_181271.3:c.314C>T, NM_181271.2:c.314C>T, NM_181272.3:c.296C>T, NM_181272.2:c.296C>T, NM_181283.3:c.*94C>T, NM_181283.2:c.*94C>T, NM_181296.3:c.*94C>T, NM_181296.2:c.*94C>T, NM_001204099.2:c.452C>T, NM_001204099.1:c.452C>T, NM_001204098.2:c.*94C>T, NM_001204098.1:c.*94C>T, NM_001202509.2:c.293C>T, NM_001202509.1:c.293C>T, NM_181298.1:c.*412C>T, NM_181299.1:c.*396C>T, NM_181293.1:c.*497C>T, NM_181287.1:c.*313C>T, NM_181288.1:c.*297C>T, NM_181297.1:c.*234C>T, NM_181300.1:c.*214C>T, NM_181301.1:c.*198C>T, NM_181285.1:c.*172C>T, NM_181292.1:c.*303C>T, NM_181286.1:c.*156C>T, NM_181290.1:c.*299C>T, NM_181294.1:c.*172C>T, NM_181295.1:c.*156C>T, NM_001040139.1:c.293C>T, NP_443725.3:p.Pro269Leu, NP_851786.1:p.Pro152Leu, NP_851788.1:p.Pro105Leu, NP_851789.1:p.Pro99Leu, NP_001191028.1:p.Pro151Leu, NP_001189438.1:p.Pro98Leu

Select item 14567687514.

rs1456768751 has merged into rs773521289 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTTTTTT [Show Flanks]
Chromosome:: 16:66570027 (GRCh38)
16:66603930 (GRCh37)
Canonical SPDI:: NC_000016.10:66570026:TTTTTTTT:TTTTTTT,NC_000016.10:66570026:TTTTTTTT:TTTTTTTTT,NC_000016.10:66570026:TTTTTTTT:TTTTTTTTTTTTTT
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTT=0.000008/1 (ExAC)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66570034del, NC_000016.10:g.66570034dup, NC_000016.10:g.66570029_66570034dup, NC_000016.9:g.66603937del, NC_000016.9:g.66603937dup, NC_000016.9:g.66603932_66603937dup, NM_052999.4:c.531del, NM_052999.4:c.531dup, NM_052999.4:c.526_531dup, NM_052999.3:c.531del, NM_052999.3:c.531dup, NM_052999.3:c.526_531dup, NM_181268.3:c.531del, NM_181268.3:c.531dup, NM_181268.3:c.526_531dup, NM_181268.2:c.531del, NM_181268.2:c.531dup, NM_181268.2:c.526_531dup, NM_181269.3:c.180del, NM_181269.3:c.180dup, NM_181269.3:c.175_180dup, NM_181269.2:c.180del, NM_181269.2:c.180dup, NM_181269.2:c.175_180dup, NM_181270.3:c.180del, NM_181270.3:c.180dup, NM_181270.3:c.175_180dup, NM_181270.2:c.180del, NM_181270.2:c.180dup, NM_181270.2:c.175_180dup, NM_181298.1:c.210del, NM_181298.1:c.210dup, NM_181298.1:c.205_210dup, NM_181299.1:c.210del, NM_181299.1:c.210dup, NM_181299.1:c.205_210dup, NM_181287.1:c.180del, NM_181287.1:c.180dup, NM_181287.1:c.175_180dup, NM_181288.1:c.180del, NM_181288.1:c.180dup, NM_181288.1:c.175_180dup, NM_181297.1:c.210del, NM_181297.1:c.210dup, NM_181297.1:c.205_210dup, NM_181300.1:c.210del, NM_181300.1:c.210dup, NM_181300.1:c.205_210dup, NM_181301.1:c.210del, NM_181301.1:c.210dup, NM_181301.1:c.205_210dup, NP_443725.3:p.Phe177fs, NP_443725.3:p.Ile178fs, NP_443725.3:p.Phe176_Phe177dup, NP_851785.2:p.Phe177fs, NP_851785.2:p.Ile178fs, NP_851785.2:p.Phe176_Phe177dup, NP_851786.1:p.Phe60fs, NP_851786.1:p.Ile61fs, NP_851786.1:p.Phe59_Phe60dup, NP_851787.1:p.Phe60fs, NP_851787.1:p.Ile61fs, NP_851787.1:p.Phe59_Phe60dup

Select item 14515125315.

rs1451512531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:66566575 (GRCh38)
16:66600478 (GRCh37)
Canonical SPDI:: NC_000016.10:66566574:C:G
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
HGVS:: NC_000016.10:g.66566575C>G, NC_000016.9:g.66600478C>G, NM_052999.4:c.62C>G, NM_052999.3:c.62C>G, NM_181268.3:c.62C>G, NM_181268.2:c.62C>G, NM_181269.3:c.62C>G, NM_181269.2:c.62C>G, NM_181270.3:c.62C>G, NM_181270.2:c.62C>G, NM_181271.3:c.62C>G, NM_181271.2:c.62C>G, NM_181272.3:c.62C>G, NM_181272.2:c.62C>G, NM_181283.3:c.62C>G, NM_181283.2:c.62C>G, NM_181296.3:c.62C>G, NM_181296.2:c.62C>G, NM_181289.2:c.62C>G, NM_181293.1:c.62C>G, NM_181287.1:c.62C>G, NM_181288.1:c.62C>G, NM_181285.1:c.62C>G, NM_181286.1:c.62C>G, NM_181290.1:c.62C>G, NM_181294.1:c.62C>G, NM_181295.1:c.62C>G, NM_181289.1:c.62C>G, NP_443725.3:p.Pro21Arg, NP_851785.2:p.Pro21Arg, NP_851786.1:p.Pro21Arg, NP_851787.1:p.Pro21Arg, NP_851788.1:p.Pro21Arg, NP_851789.1:p.Pro21Arg, NP_851800.1:p.Pro21Arg, NP_851813.1:p.Pro21Arg

Select item 14271011656.

rs1427101165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:66577127 (GRCh38)
16:66611030 (GRCh37)
Canonical SPDI:: NC_000016.10:66577126:A:T
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.66577127A>T, NC_000016.9:g.66611030A>T, NM_052999.4:c.615A>T, NM_052999.3:c.615A>T, NM_181268.3:c.615A>T, NM_181268.2:c.615A>T, NM_181269.3:c.264A>T, NM_181269.2:c.264A>T, NM_181270.3:c.264A>T, NM_181270.2:c.264A>T, NM_181271.3:c.123A>T, NM_181271.2:c.123A>T, NM_181272.3:c.105A>T, NM_181272.2:c.105A>T, NM_181283.3:c.105A>T, NM_181283.2:c.105A>T, NM_001204099.2:c.261A>T, NM_001204099.1:c.261A>T, NM_001204098.2:c.198A>T, NM_001204098.1:c.198A>T, NM_001202509.2:c.102A>T, NM_001202509.1:c.102A>T, NM_181293.1:c.*306A>T, NM_181287.1:c.*122A>T, NM_181288.1:c.*122A>T, NM_181285.1:c.260A>T, NM_181292.1:c.*112A>T, NM_181286.1:c.260A>T, NM_181290.1:c.*108A>T, NM_001040139.1:c.102A>T

Select item 14238855877.

rs1423885587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66577155 (GRCh38)
16:66611058 (GRCh37)
Canonical SPDI:: NC_000016.10:66577154:T:C
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.66577155T>C, NC_000016.9:g.66611058T>C, NM_052999.4:c.643T>C, NM_052999.3:c.643T>C, NM_181268.3:c.643T>C, NM_181268.2:c.643T>C, NM_181269.3:c.292T>C, NM_181269.2:c.292T>C, NM_181270.3:c.292T>C, NM_181270.2:c.292T>C, NM_181271.3:c.151T>C, NM_181271.2:c.151T>C, NM_181272.3:c.133T>C, NM_181272.2:c.133T>C, NM_181283.3:c.133T>C, NM_181283.2:c.133T>C, NM_001204099.2:c.289T>C, NM_001204099.1:c.289T>C, NM_001204098.2:c.226T>C, NM_001204098.1:c.226T>C, NM_001202509.2:c.130T>C, NM_001202509.1:c.130T>C, NM_181293.1:c.*334T>C, NM_181287.1:c.*150T>C, NM_181288.1:c.*150T>C, NM_181285.1:c.*9T>C, NM_181292.1:c.*140T>C, NM_181286.1:c.*9T>C, NM_181290.1:c.*136T>C, NM_181294.1:c.*9T>C, NM_181295.1:c.*9T>C, NM_001040139.1:c.130T>C

Select item 14181151528.

rs1418115152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:66570034 (GRCh38)
16:66603938 (GRCh37)
Canonical SPDI:: NC_000016.10:66570034:A:AA
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66570035dup, NC_000016.9:g.66603938dup, NM_052999.4:c.532dup, NM_052999.3:c.532dup, NM_181268.3:c.532dup, NM_181268.2:c.532dup, NM_181269.3:c.181dup, NM_181269.2:c.181dup, NM_181270.3:c.181dup, NM_181270.2:c.181dup, NM_181298.1:c.211dup, NM_181299.1:c.211dup, NM_181287.1:c.181dup, NM_181288.1:c.181dup, NM_181297.1:c.211dup, NM_181300.1:c.211dup, NM_181301.1:c.211dup, NP_443725.3:p.Ile178fs, NP_851785.2:p.Ile178fs, NP_851786.1:p.Ile61fs, NP_851787.1:p.Ile61fs

Select item 14065351229.

rs1406535122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66566584 (GRCh38)
16:66600487 (GRCh37)
Canonical SPDI:: NC_000016.10:66566583:C:T
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66566584C>T, NC_000016.9:g.66600487C>T, NM_052999.4:c.71C>T, NM_052999.3:c.71C>T, NM_181268.3:c.71C>T, NM_181268.2:c.71C>T, NM_181269.3:c.71C>T, NM_181269.2:c.71C>T, NM_181270.3:c.71C>T, NM_181270.2:c.71C>T, NM_181271.3:c.71C>T, NM_181271.2:c.71C>T, NM_181272.3:c.71C>T, NM_181272.2:c.71C>T, NM_181283.3:c.71C>T, NM_181283.2:c.71C>T, NM_181296.3:c.71C>T, NM_181296.2:c.71C>T, NM_181289.2:c.71C>T, NM_181293.1:c.71C>T, NM_181287.1:c.71C>T, NM_181288.1:c.71C>T, NM_181285.1:c.71C>T, NM_181286.1:c.71C>T, NM_181290.1:c.71C>T, NM_181294.1:c.71C>T, NM_181295.1:c.71C>T, NM_181289.1:c.71C>T, NP_443725.3:p.Ala24Val, NP_851785.2:p.Ala24Val, NP_851786.1:p.Ala24Val, NP_851787.1:p.Ala24Val, NP_851788.1:p.Ala24Val, NP_851789.1:p.Ala24Val, NP_851800.1:p.Ala24Val, NP_851813.1:p.Ala24Val

Select item 139806030510.

rs1398060305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:66578952 (GRCh38)
16:66612855 (GRCh37)
Canonical SPDI:: NC_000016.10:66578951:A:C
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66578952A>C, NC_000016.9:g.66612855A>C, NM_052999.4:c.812A>C, NM_052999.3:c.812A>C, NM_181268.3:c.*100A>C, NM_181268.2:c.*100A>C, NM_181269.3:c.461A>C, NM_181269.2:c.461A>C, NM_181270.3:c.*100A>C, NM_181270.2:c.*100A>C, NM_181271.3:c.320A>C, NM_181271.2:c.320A>C, NM_181272.3:c.302A>C, NM_181272.2:c.302A>C, NM_181283.3:c.*100A>C, NM_181283.2:c.*100A>C, NM_181296.3:c.*100A>C, NM_181296.2:c.*100A>C, NM_001204099.2:c.458A>C, NM_001204099.1:c.458A>C, NM_001204098.2:c.*100A>C, NM_001204098.1:c.*100A>C, NM_001202509.2:c.299A>C, NM_001202509.1:c.299A>C, NM_181298.1:c.*418A>C, NM_181299.1:c.*402A>C, NM_181293.1:c.*503A>C, NM_181287.1:c.*319A>C, NM_181288.1:c.*303A>C, NM_181297.1:c.*240A>C, NM_181300.1:c.*220A>C, NM_181301.1:c.*204A>C, NM_181285.1:c.*178A>C, NM_181292.1:c.*309A>C, NM_181286.1:c.*162A>C, NM_181290.1:c.*305A>C, NM_181294.1:c.*178A>C, NM_181295.1:c.*162A>C, NM_001040139.1:c.299A>C, NP_443725.3:p.Lys271Thr, NP_851786.1:p.Lys154Thr, NP_851788.1:p.Lys107Thr, NP_851789.1:p.Lys101Thr, NP_001191028.1:p.Lys153Thr, NP_001189438.1:p.Lys100Thr

Select item 139084924711.

rs1390849247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66577164 (GRCh38)
16:66611067 (GRCh37)
Canonical SPDI:: NC_000016.10:66577163:C:T
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66577164C>T, NC_000016.9:g.66611067C>T, NM_052999.4:c.652C>T, NM_052999.3:c.652C>T, NM_181268.3:c.652C>T, NM_181268.2:c.652C>T, NM_181269.3:c.301C>T, NM_181269.2:c.301C>T, NM_181270.3:c.301C>T, NM_181270.2:c.301C>T, NM_181271.3:c.160C>T, NM_181271.2:c.160C>T, NM_181272.3:c.142C>T, NM_181272.2:c.142C>T, NM_181283.3:c.142C>T, NM_181283.2:c.142C>T, NM_001204099.2:c.298C>T, NM_001204099.1:c.298C>T, NM_001204098.2:c.235C>T, NM_001204098.1:c.235C>T, NM_001202509.2:c.139C>T, NM_001202509.1:c.139C>T, NM_181293.1:c.*343C>T, NM_181287.1:c.*159C>T, NM_181288.1:c.*159C>T, NM_181285.1:c.*18C>T, NM_181292.1:c.*149C>T, NM_181286.1:c.*18C>T, NM_181290.1:c.*145C>T, NM_181294.1:c.*18C>T, NM_181295.1:c.*18C>T, NM_001040139.1:c.139C>T, NP_443725.3:p.Gln218Ter, NP_851785.2:p.Gln218Ter, NP_851786.1:p.Gln101Ter, NP_851787.1:p.Gln101Ter, NP_851788.1:p.Gln54Ter, NP_851789.1:p.Gln48Ter, NP_851800.1:p.Gln48Ter, NP_001191028.1:p.Gln100Ter, NP_001191027.1:p.Gln79Ter, NP_001189438.1:p.Gln47Ter

Select item 138777089612.

rs1387770896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66569970 (GRCh38)
16:66603873 (GRCh37)
Canonical SPDI:: NC_000016.10:66569969:T:C
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66569970T>C, NC_000016.9:g.66603873T>C, NM_052999.4:c.467T>C, NM_052999.3:c.467T>C, NM_181268.3:c.467T>C, NM_181268.2:c.467T>C, NM_181269.3:c.116T>C, NM_181269.2:c.116T>C, NM_181270.3:c.116T>C, NM_181270.2:c.116T>C, NM_181298.1:c.146T>C, NM_181299.1:c.146T>C, NM_181287.1:c.116T>C, NM_181288.1:c.116T>C, NM_181297.1:c.146T>C, NM_181300.1:c.146T>C, NM_181301.1:c.146T>C, NP_443725.3:p.Ile156Thr, NP_851785.2:p.Ile156Thr, NP_851786.1:p.Ile39Thr, NP_851787.1:p.Ile39Thr

Select item 138331863713.

rs1383318637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:66566521 (GRCh38)
16:66600424 (GRCh37)
Canonical SPDI:: NC_000016.10:66566520:C:G
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66566521C>G, NC_000016.9:g.66600424C>G, NM_052999.4:c.8C>G, NM_052999.3:c.8C>G, NM_181268.3:c.8C>G, NM_181268.2:c.8C>G, NM_181269.3:c.8C>G, NM_181269.2:c.8C>G, NM_181270.3:c.8C>G, NM_181270.2:c.8C>G, NM_181271.3:c.8C>G, NM_181271.2:c.8C>G, NM_181272.3:c.8C>G, NM_181272.2:c.8C>G, NM_181283.3:c.8C>G, NM_181283.2:c.8C>G, NM_181296.3:c.8C>G, NM_181296.2:c.8C>G, NM_181289.2:c.8C>G, NM_181293.1:c.8C>G, NM_181287.1:c.8C>G, NM_181288.1:c.8C>G, NM_181285.1:c.8C>G, NM_181292.1:c.8C>G, NM_181286.1:c.8C>G, NM_181290.1:c.8C>G, NM_181294.1:c.8C>G, NM_181295.1:c.8C>G, NM_181289.1:c.8C>G, NP_443725.3:p.Pro3Arg, NP_851785.2:p.Pro3Arg, NP_851786.1:p.Pro3Arg, NP_851787.1:p.Pro3Arg, NP_851788.1:p.Pro3Arg, NP_851789.1:p.Pro3Arg, NP_851800.1:p.Pro3Arg, NP_851813.1:p.Pro3Arg

Select item 137787023714.

rs1377870237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:66578945 (GRCh38)
16:66612848 (GRCh37)
Canonical SPDI:: NC_000016.10:66578944:C:G,NC_000016.10:66578944:C:T
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.66578945C>G, NC_000016.10:g.66578945C>T, NC_000016.9:g.66612848C>G, NC_000016.9:g.66612848C>T, NM_052999.4:c.805C>G, NM_052999.4:c.805C>T, NM_052999.3:c.805C>G, NM_052999.3:c.805C>T, NM_181268.3:c.*93C>G, NM_181268.3:c.*93C>T, NM_181268.2:c.*93C>G, NM_181268.2:c.*93C>T, NM_181269.3:c.454C>G, NM_181269.3:c.454C>T, NM_181269.2:c.454C>G, NM_181269.2:c.454C>T, NM_181270.3:c.*93C>G, NM_181270.3:c.*93C>T, NM_181270.2:c.*93C>G, NM_181270.2:c.*93C>T, NM_181271.3:c.313C>G, NM_181271.3:c.313C>T, NM_181271.2:c.313C>G, NM_181271.2:c.313C>T, NM_181272.3:c.295C>G, NM_181272.3:c.295C>T, NM_181272.2:c.295C>G, NM_181272.2:c.295C>T, NM_181283.3:c.*93C>G, NM_181283.3:c.*93C>T, NM_181283.2:c.*93C>G, NM_181283.2:c.*93C>T, NM_181296.3:c.*93C>G, NM_181296.3:c.*93C>T, NM_181296.2:c.*93C>G, NM_181296.2:c.*93C>T, NM_001204099.2:c.451C>G, NM_001204099.2:c.451C>T, NM_001204099.1:c.451C>G, NM_001204099.1:c.451C>T, NM_001204098.2:c.*93C>G, NM_001204098.2:c.*93C>T, NM_001204098.1:c.*93C>G, NM_001204098.1:c.*93C>T, NM_001202509.2:c.292C>G, NM_001202509.2:c.292C>T, NM_001202509.1:c.292C>G, NM_001202509.1:c.292C>T, NM_181298.1:c.*411C>G, NM_181298.1:c.*411C>T, NM_181299.1:c.*395C>G, NM_181299.1:c.*395C>T, NM_181293.1:c.*496C>G, NM_181293.1:c.*496C>T, NM_181287.1:c.*312C>G, NM_181287.1:c.*312C>T, NM_181288.1:c.*296C>G, NM_181288.1:c.*296C>T, NM_181297.1:c.*233C>G, NM_181297.1:c.*233C>T, NM_181300.1:c.*213C>G, NM_181300.1:c.*213C>T, NM_181301.1:c.*197C>G, NM_181301.1:c.*197C>T, NM_181285.1:c.*171C>G, NM_181285.1:c.*171C>T, NM_181292.1:c.*302C>G, NM_181292.1:c.*302C>T, NM_181286.1:c.*155C>G, NM_181286.1:c.*155C>T, NM_181290.1:c.*298C>G, NM_181290.1:c.*298C>T, NM_181294.1:c.*171C>G, NM_181294.1:c.*171C>T, NM_181295.1:c.*155C>G, NM_181295.1:c.*155C>T, NM_001040139.1:c.292C>G, NM_001040139.1:c.292C>T, NP_443725.3:p.Pro269Ala, NP_443725.3:p.Pro269Ser, NP_851786.1:p.Pro152Ala, NP_851786.1:p.Pro152Ser, NP_851788.1:p.Pro105Ala, NP_851788.1:p.Pro105Ser, NP_851789.1:p.Pro99Ala, NP_851789.1:p.Pro99Ser, NP_001191028.1:p.Pro151Ala, NP_001191028.1:p.Pro151Ser, NP_001189438.1:p.Pro98Ala, NP_001189438.1:p.Pro98Ser

Select item 136667802515.

rs1366678025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66578865 (GRCh38)
16:66612768 (GRCh37)
Canonical SPDI:: NC_000016.10:66578864:T:C
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66578865T>C, NC_000016.9:g.66612768T>C, NM_052999.4:c.725T>C, NM_052999.3:c.725T>C, NM_181268.3:c.*13T>C, NM_181268.2:c.*13T>C, NM_181269.3:c.374T>C, NM_181269.2:c.374T>C, NM_181270.3:c.*13T>C, NM_181270.2:c.*13T>C, NM_181271.3:c.233T>C, NM_181271.2:c.233T>C, NM_181272.3:c.215T>C, NM_181272.2:c.215T>C, NM_181283.3:c.*13T>C, NM_181283.2:c.*13T>C, NM_181296.3:c.*13T>C, NM_181296.2:c.*13T>C, NM_001204099.2:c.371T>C, NM_001204099.1:c.371T>C, NM_001204098.2:c.*13T>C, NM_001204098.1:c.*13T>C, NM_001202509.2:c.212T>C, NM_001202509.1:c.212T>C, NM_181298.1:c.*331T>C, NM_181299.1:c.*315T>C, NM_181293.1:c.*416T>C, NM_181287.1:c.*232T>C, NM_181288.1:c.*216T>C, NM_181297.1:c.*153T>C, NM_181300.1:c.*133T>C, NM_181301.1:c.*117T>C, NM_181285.1:c.*91T>C, NM_181292.1:c.*222T>C, NM_181286.1:c.*75T>C, NM_181290.1:c.*218T>C, NM_181294.1:c.*91T>C, NM_181295.1:c.*75T>C, NM_001040139.1:c.212T>C, NP_443725.3:p.Ile242Thr, NP_851786.1:p.Ile125Thr, NP_851788.1:p.Ile78Thr, NP_851789.1:p.Ile72Thr, NP_001191028.1:p.Ile124Thr, NP_001189438.1:p.Ile71Thr

Select item 135460181616.

rs1354601816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:66578836 (GRCh38)
16:66612739 (GRCh37)
Canonical SPDI:: NC_000016.10:66578835:G:A,NC_000016.10:66578835:G:C
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66578836G>A, NC_000016.10:g.66578836G>C, NC_000016.9:g.66612739G>A, NC_000016.9:g.66612739G>C, NM_052999.4:c.696G>A, NM_052999.4:c.696G>C, NM_052999.3:c.696G>A, NM_052999.3:c.696G>C, NM_181269.3:c.345G>A, NM_181269.3:c.345G>C, NM_181269.2:c.345G>A, NM_181269.2:c.345G>C, NM_181271.3:c.204G>A, NM_181271.3:c.204G>C, NM_181271.2:c.204G>A, NM_181271.2:c.204G>C, NM_181272.3:c.186G>A, NM_181272.3:c.186G>C, NM_181272.2:c.186G>A, NM_181272.2:c.186G>C, NM_001204099.2:c.342G>A, NM_001204099.2:c.342G>C, NM_001204099.1:c.342G>A, NM_001204099.1:c.342G>C, NM_001202509.2:c.183G>A, NM_001202509.2:c.183G>C, NM_001202509.1:c.183G>A, NM_001202509.1:c.183G>C, NM_181298.1:c.*302G>A, NM_181298.1:c.*302G>C, NM_181293.1:c.*387G>A, NM_181293.1:c.*387G>C, NM_181287.1:c.*203G>A, NM_181287.1:c.*203G>C, NM_181297.1:c.*124G>A, NM_181297.1:c.*124G>C, NM_181300.1:c.*104G>A, NM_181300.1:c.*104G>C, NM_181285.1:c.*62G>A, NM_181285.1:c.*62G>C, NM_181292.1:c.*193G>A, NM_181292.1:c.*193G>C, NM_181290.1:c.*189G>A, NM_181290.1:c.*189G>C, NM_181294.1:c.*62G>A, NM_181294.1:c.*62G>C, NM_001040139.1:c.183G>A, NM_001040139.1:c.183G>C

Select item 135018602217.

rs1350186022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66578957 (GRCh38)
16:66612860 (GRCh37)
Canonical SPDI:: NC_000016.10:66578956:G:A
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_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 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66578957G>A, NC_000016.9:g.66612860G>A, NM_052999.4:c.817G>A, NM_052999.3:c.817G>A, NM_181268.3:c.*105G>A, NM_181268.2:c.*105G>A, NM_181269.3:c.466G>A, NM_181269.2:c.466G>A, NM_181270.3:c.*105G>A, NM_181270.2:c.*105G>A, NM_181271.3:c.325G>A, NM_181271.2:c.325G>A, NM_181272.3:c.307G>A, NM_181272.2:c.307G>A, NM_181283.3:c.*105G>A, NM_181283.2:c.*105G>A, NM_181296.3:c.*105G>A, NM_181296.2:c.*105G>A, NM_001204099.2:c.463G>A, NM_001204099.1:c.463G>A, NM_001204098.2:c.*105G>A, NM_001204098.1:c.*105G>A, NM_001202509.2:c.304G>A, NM_001202509.1:c.304G>A, NM_181298.1:c.*423G>A, NM_181299.1:c.*407G>A, NM_181293.1:c.*508G>A, NM_181287.1:c.*324G>A, NM_181288.1:c.*308G>A, NM_181297.1:c.*245G>A, NM_181300.1:c.*225G>A, NM_181301.1:c.*209G>A, NM_181285.1:c.*183G>A, NM_181292.1:c.*314G>A, NM_181286.1:c.*167G>A, NM_181290.1:c.*310G>A, NM_181294.1:c.*183G>A, NM_181295.1:c.*167G>A, NM_001040139.1:c.304G>A, NP_443725.3:p.Ala273Thr, NP_851786.1:p.Ala156Thr, NP_851788.1:p.Ala109Thr, NP_851789.1:p.Ala103Thr, NP_001191028.1:p.Ala155Thr, NP_001189438.1:p.Ala102Thr

Select item 134307967718.

rs1343079677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66578980 (GRCh38)
16:66612883 (GRCh37)
Canonical SPDI:: NC_000016.10:66578979:C:T
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.66578980C>T, NC_000016.9:g.66612883C>T, NM_052999.4:c.840C>T, NM_052999.3:c.840C>T, NM_181268.3:c.*128C>T, NM_181268.2:c.*128C>T, NM_181269.3:c.489C>T, NM_181269.2:c.489C>T, NM_181270.3:c.*128C>T, NM_181270.2:c.*128C>T, NM_181271.3:c.348C>T, NM_181271.2:c.348C>T, NM_181272.3:c.330C>T, NM_181272.2:c.330C>T, NM_181283.3:c.*128C>T, NM_181283.2:c.*128C>T, NM_181296.3:c.*128C>T, NM_181296.2:c.*128C>T, NM_001204099.2:c.486C>T, NM_001204099.1:c.486C>T, NM_001204098.2:c.*128C>T, NM_001204098.1:c.*128C>T, NM_001202509.2:c.327C>T, NM_001202509.1:c.327C>T, NM_181289.2:c.177C>T, NM_181298.1:c.*446C>T, NM_181299.1:c.*430C>T, NM_181293.1:c.*531C>T, NM_181287.1:c.*347C>T, NM_181288.1:c.*331C>T, NM_181297.1:c.*268C>T, NM_181300.1:c.*248C>T, NM_181301.1:c.*232C>T, NM_181285.1:c.*206C>T, NM_181292.1:c.*337C>T, NM_181286.1:c.*190C>T, NM_181290.1:c.*333C>T, NM_181294.1:c.*206C>T, NM_181295.1:c.*190C>T, NM_001040139.1:c.327C>T, NM_181289.1:c.177C>T

Select item 134091716219.

rs1340917162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66577122 (GRCh38)
16:66611025 (GRCh37)
Canonical SPDI:: NC_000016.10:66577121:A:G
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66577122A>G, NC_000016.9:g.66611025A>G, NM_052999.4:c.610A>G, NM_052999.3:c.610A>G, NM_181268.3:c.610A>G, NM_181268.2:c.610A>G, NM_181269.3:c.259A>G, NM_181269.2:c.259A>G, NM_181270.3:c.259A>G, NM_181270.2:c.259A>G, NM_181271.3:c.118A>G, NM_181271.2:c.118A>G, NM_181272.3:c.100A>G, NM_181272.2:c.100A>G, NM_181283.3:c.100A>G, NM_181283.2:c.100A>G, NM_001204099.2:c.256A>G, NM_001204099.1:c.256A>G, NM_001204098.2:c.193A>G, NM_001204098.1:c.193A>G, NM_001202509.2:c.97A>G, NM_001202509.1:c.97A>G, NM_181293.1:c.*301A>G, NM_181287.1:c.*117A>G, NM_181288.1:c.*117A>G, NM_181285.1:c.255A>G, NM_181292.1:c.*107A>G, NM_181286.1:c.255A>G, NM_181290.1:c.*103A>G, NM_001040139.1:c.97A>G, NP_443725.3:p.Ile204Val, NP_851785.2:p.Ile204Val, NP_851786.1:p.Ile87Val, NP_851787.1:p.Ile87Val, NP_851788.1:p.Ile40Val, NP_851789.1:p.Ile34Val, NP_851800.1:p.Ile34Val, NP_001191028.1:p.Ile86Val, NP_001191027.1:p.Ile65Val, NP_001189438.1:p.Ile33Val

Select item 133924604220.

rs1339246042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66578905 (GRCh38)
16:66612808 (GRCh37)
Canonical SPDI:: NC_000016.10:66578904:G:A
Gene:: CMTM1 (Varview), CMTM2 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66578905G>A, NC_000016.9:g.66612808G>A, NM_052999.4:c.765G>A, NM_052999.3:c.765G>A, NM_181268.3:c.*53G>A, NM_181268.2:c.*53G>A, NM_181269.3:c.414G>A, NM_181269.2:c.414G>A, NM_181270.3:c.*53G>A, NM_181270.2:c.*53G>A, NM_181271.3:c.273G>A, NM_181271.2:c.273G>A, NM_181272.3:c.255G>A, NM_181272.2:c.255G>A, NM_181283.3:c.*53G>A, NM_181283.2:c.*53G>A, NM_181296.3:c.*53G>A, NM_181296.2:c.*53G>A, NM_001204099.2:c.411G>A, NM_001204099.1:c.411G>A, NM_001204098.2:c.*53G>A, NM_001204098.1:c.*53G>A, NM_001202509.2:c.252G>A, NM_001202509.1:c.252G>A, NM_181298.1:c.*371G>A, NM_181299.1:c.*355G>A, NM_181293.1:c.*456G>A, NM_181287.1:c.*272G>A, NM_181288.1:c.*256G>A, NM_181297.1:c.*193G>A, NM_181300.1:c.*173G>A, NM_181301.1:c.*157G>A, NM_181285.1:c.*131G>A, NM_181292.1:c.*262G>A, NM_181286.1:c.*115G>A, NM_181290.1:c.*258G>A, NM_181294.1:c.*131G>A, NM_181295.1:c.*115G>A, NM_001040139.1:c.252G>A

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