SNP Links for Protein (Select 303324539) - SNP

Select item 14897086651.

rs1489708665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:181053677 (GRCh38)
1:181022813 (GRCh37)
Canonical SPDI:: NC_000001.11:181053676:G:A
Gene:: MR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.181053677G>A, NC_000001.10:g.181022813G>A, NG_042221.1:g.25253G>A, NM_001531.3:c.985G>A, NM_001531.2:c.985G>A, NM_001194999.2:c.850G>A, NM_001194999.1:c.850G>A, NM_001310213.2:c.496G>A, NM_001310213.1:c.496G>A, NM_001195000.2:c.709G>A, NM_001195000.1:c.709G>A, NM_001385161.1:c.985G>A, NM_001385162.1:c.898G>A, NM_001385164.1:c.709G>A, XM_011509463.3:c.724G>A, XM_011509463.2:c.724G>A, XM_011509463.1:c.724G>A, XM_047418899.1:c.898G>A, NP_001522.1:p.Glu329Lys, NP_001181928.1:p.Glu284Lys, NP_001297142.1:p.Glu166Lys, NP_001181929.1:p.Glu237Lys, NP_001372090.1:p.Glu329Lys, NP_001372091.1:p.Glu300Lys, NP_001372093.1:p.Glu237Lys, XP_011507765.1:p.Glu242Lys, XP_047274855.1:p.Glu300Lys

Select item 14859762612.

rs1485976261 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAATT>- [Show Flanks]
Chromosome:: 1:181052424 (GRCh38)
1:181021560 (GRCh37)
Canonical SPDI:: NC_000001.11:181052422:TCAATT:T
Gene:: MR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181052424_181052428del, NC_000001.10:g.181021560_181021564del, NG_042221.1:g.24000_24004del, NM_001531.3:c.794_798del, NM_001531.2:c.794_798del, NM_001194999.2:c.659_663del, NM_001194999.1:c.659_663del, NM_001385161.1:c.794_798del, NM_001385162.1:c.707_711del, XM_011509463.3:c.533_537del, XM_011509463.2:c.533_537del, XM_011509463.1:c.533_537del, XM_047418899.1:c.707_711del, NP_001522.1:p.Ala264_Ser265insTer, NP_001181928.1:p.Ala219_Ser220insTer, NP_001372090.1:p.Ala264_Ser265insTer, NP_001372091.1:p.Ala235_Ser236insTer, XP_011507765.1:p.Ala177_Ser178insTer, XP_047274855.1:p.Ala235_Ser236insTer

Select item 14837298723.

rs1483729872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:181050174 (GRCh38)
1:181019310 (GRCh37)
Canonical SPDI:: NC_000001.11:181050173:A:T
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.181050174A>T, NC_000001.10:g.181019310A>T, NG_042221.1:g.21750A>T, NM_001531.3:c.492A>T, NM_001531.2:c.492A>T, NM_001194999.2:c.357A>T, NM_001194999.1:c.357A>T, NM_001310213.2:c.279A>T, NM_001310213.1:c.279A>T, NM_001195000.2:c.492A>T, NM_001195000.1:c.492A>T, NM_001195035.2:c.492A>T, NM_001195035.1:c.492A>T, NM_001385161.1:c.492A>T, NM_001385162.1:c.492A>T, NM_001385164.1:c.492A>T, NM_001385163.1:c.492A>T, XM_011509463.3:c.231A>T, XM_011509463.2:c.231A>T, XM_011509463.1:c.231A>T, XM_047418899.1:c.492A>T

Select item 14803491574.

rs1480349157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:181053626 (GRCh38)
1:181022762 (GRCh37)
Canonical SPDI:: NC_000001.11:181053625:G:C
Gene:: MR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181053626G>C, NC_000001.10:g.181022762G>C, NG_042221.1:g.25202G>C, NM_001531.3:c.934G>C, NM_001531.2:c.934G>C, NM_001194999.2:c.799G>C, NM_001194999.1:c.799G>C, NM_001310213.2:c.445G>C, NM_001310213.1:c.445G>C, NM_001195000.2:c.658G>C, NM_001195000.1:c.658G>C, NM_001385161.1:c.934G>C, NM_001385162.1:c.847G>C, NM_001385164.1:c.658G>C, XM_011509463.3:c.673G>C, XM_011509463.2:c.673G>C, XM_011509463.1:c.673G>C, XM_047418899.1:c.847G>C, NP_001522.1:p.Val312Leu, NP_001181928.1:p.Val267Leu, NP_001297142.1:p.Val149Leu, NP_001181929.1:p.Val220Leu, NP_001372090.1:p.Val312Leu, NP_001372091.1:p.Val283Leu, NP_001372093.1:p.Val220Leu, XP_011507765.1:p.Val225Leu, XP_047274855.1:p.Val283Leu

Select item 14779892585.

rs1477989258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:181050148 (GRCh38)
1:181019284 (GRCh37)
Canonical SPDI:: NC_000001.11:181050147:A:G
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181050148A>G, NC_000001.10:g.181019284A>G, NG_042221.1:g.21724A>G, NM_001531.3:c.466A>G, NM_001531.2:c.466A>G, NM_001194999.2:c.331A>G, NM_001194999.1:c.331A>G, NM_001310213.2:c.253A>G, NM_001310213.1:c.253A>G, NM_001195000.2:c.466A>G, NM_001195000.1:c.466A>G, NM_001195035.2:c.466A>G, NM_001195035.1:c.466A>G, NM_001385161.1:c.466A>G, NM_001385162.1:c.466A>G, NM_001385164.1:c.466A>G, NM_001385163.1:c.466A>G, XM_011509463.3:c.205A>G, XM_011509463.2:c.205A>G, XM_011509463.1:c.205A>G, XM_047418899.1:c.466A>G, NP_001522.1:p.Asn156Asp, NP_001181928.1:p.Asn111Asp, NP_001297142.1:p.Asn85Asp, NP_001181929.1:p.Asn156Asp, NP_001181964.1:p.Asn156Asp, NP_001372090.1:p.Asn156Asp, NP_001372091.1:p.Asn156Asp, NP_001372093.1:p.Asn156Asp, NP_001372092.1:p.Asn156Asp, XP_011507765.1:p.Asn69Asp, XP_047274855.1:p.Asn156Asp

Select item 14771349446.

rs1477134944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:181049069 (GRCh38)
1:181018205 (GRCh37)
Canonical SPDI:: NC_000001.11:181049068:T:G
Gene:: MR1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181049069T>G, NC_000001.10:g.181018205T>G, NG_042221.1:g.20645T>G, NM_001531.3:c.85T>G, NM_001531.2:c.85T>G, NM_001194999.2:c.85T>G, NM_001194999.1:c.85T>G, NM_001310213.2:c.-129T>G, NM_001310213.1:c.-129T>G, NM_001195000.2:c.85T>G, NM_001195000.1:c.85T>G, NM_001195035.2:c.85T>G, NM_001195035.1:c.85T>G, NM_001385161.1:c.85T>G, NM_001385162.1:c.85T>G, NM_001385164.1:c.85T>G, NM_001385163.1:c.85T>G, XM_047418899.1:c.85T>G, NP_001522.1:p.Tyr29Asp, NP_001181928.1:p.Tyr29Asp, NP_001181929.1:p.Tyr29Asp, NP_001181964.1:p.Tyr29Asp, NP_001372090.1:p.Tyr29Asp, NP_001372091.1:p.Tyr29Asp, NP_001372093.1:p.Tyr29Asp, NP_001372092.1:p.Tyr29Asp, XP_047274855.1:p.Tyr29Asp

Select item 14770844617.

rs1477084461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:181050223 (GRCh38)
1:181019359 (GRCh37)
Canonical SPDI:: NC_000001.11:181050222:G:A,NC_000001.11:181050222:G:T
Gene:: MR1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.181050223G>A, NC_000001.11:g.181050223G>T, NC_000001.10:g.181019359G>A, NC_000001.10:g.181019359G>T, NG_042221.1:g.21799G>A, NG_042221.1:g.21799G>T, NM_001531.3:c.541G>A, NM_001531.3:c.541G>T, NM_001531.2:c.541G>A, NM_001531.2:c.541G>T, NM_001194999.2:c.406G>A, NM_001194999.2:c.406G>T, NM_001194999.1:c.406G>A, NM_001194999.1:c.406G>T, NM_001310213.2:c.328G>A, NM_001310213.2:c.328G>T, NM_001310213.1:c.328G>A, NM_001310213.1:c.328G>T, NM_001195000.2:c.541G>A, NM_001195000.2:c.541G>T, NM_001195000.1:c.541G>A, NM_001195000.1:c.541G>T, NM_001195035.2:c.541G>A, NM_001195035.2:c.541G>T, NM_001195035.1:c.541G>A, NM_001195035.1:c.541G>T, NM_001385161.1:c.541G>A, NM_001385161.1:c.541G>T, NM_001385162.1:c.541G>A, NM_001385162.1:c.541G>T, NM_001385164.1:c.541G>A, NM_001385164.1:c.541G>T, NM_001385163.1:c.541G>A, NM_001385163.1:c.541G>T, XM_011509463.3:c.280G>A, XM_011509463.3:c.280G>T, XM_011509463.2:c.280G>A, XM_011509463.2:c.280G>T, XM_011509463.1:c.280G>A, XM_011509463.1:c.280G>T, XM_047418899.1:c.541G>A, XM_047418899.1:c.541G>T, NP_001522.1:p.Glu181Lys, NP_001522.1:p.Glu181Ter, NP_001181928.1:p.Glu136Lys, NP_001181928.1:p.Glu136Ter, NP_001297142.1:p.Glu110Lys, NP_001297142.1:p.Glu110Ter, NP_001181929.1:p.Glu181Lys, NP_001181929.1:p.Glu181Ter, NP_001181964.1:p.Glu181Lys, NP_001181964.1:p.Glu181Ter, NP_001372090.1:p.Glu181Lys, NP_001372090.1:p.Glu181Ter, NP_001372091.1:p.Glu181Lys, NP_001372091.1:p.Glu181Ter, NP_001372093.1:p.Glu181Lys, NP_001372093.1:p.Glu181Ter, NP_001372092.1:p.Glu181Lys, NP_001372092.1:p.Glu181Ter, XP_011507765.1:p.Glu94Lys, XP_011507765.1:p.Glu94Ter, XP_047274855.1:p.Glu181Lys, XP_047274855.1:p.Glu181Ter

Select item 14736340678.

rs1473634067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:181049274 (GRCh38)
1:181018410 (GRCh37)
Canonical SPDI:: NC_000001.11:181049273:T:A
Gene:: MR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.181049274T>A, NC_000001.10:g.181018410T>A, NG_042221.1:g.20850T>A, NM_001531.3:c.290T>A, NM_001531.2:c.290T>A, NM_001194999.2:c.290T>A, NM_001194999.1:c.290T>A, NM_001310213.2:c.77T>A, NM_001310213.1:c.77T>A, NM_001195000.2:c.290T>A, NM_001195000.1:c.290T>A, NM_001195035.2:c.290T>A, NM_001195035.1:c.290T>A, NM_001385161.1:c.290T>A, NM_001385162.1:c.290T>A, NM_001385164.1:c.290T>A, NM_001385163.1:c.290T>A, XM_047418899.1:c.290T>A, NP_001522.1:p.Val97Glu, NP_001181928.1:p.Val97Glu, NP_001297142.1:p.Val26Glu, NP_001181929.1:p.Val97Glu, NP_001181964.1:p.Val97Glu, NP_001372090.1:p.Val97Glu, NP_001372091.1:p.Val97Glu, NP_001372093.1:p.Val97Glu, NP_001372092.1:p.Val97Glu, XP_047274855.1:p.Val97Glu

Select item 14658012969.

rs1465801296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:181049298 (GRCh38)
1:181018434 (GRCh37)
Canonical SPDI:: NC_000001.11:181049297:A:T
Gene:: MR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181049298A>T, NC_000001.10:g.181018434A>T, NG_042221.1:g.20874A>T, NM_001531.3:c.314A>T, NM_001531.2:c.314A>T, NM_001194999.2:c.314A>T, NM_001194999.1:c.314A>T, NM_001310213.2:c.101A>T, NM_001310213.1:c.101A>T, NM_001195000.2:c.314A>T, NM_001195000.1:c.314A>T, NM_001195035.2:c.314A>T, NM_001195035.1:c.314A>T, NM_001385161.1:c.314A>T, NM_001385162.1:c.314A>T, NM_001385164.1:c.314A>T, NM_001385163.1:c.314A>T, XM_047418899.1:c.314A>T, NP_001522.1:p.His105Leu, NP_001181928.1:p.His105Leu, NP_001297142.1:p.His34Leu, NP_001181929.1:p.His105Leu, NP_001181964.1:p.His105Leu, NP_001372090.1:p.His105Leu, NP_001372091.1:p.His105Leu, NP_001372093.1:p.His105Leu, NP_001372092.1:p.His105Leu, XP_047274855.1:p.His105Leu

Select item 146576106610.

rs1465761066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:181052429 (GRCh38)
1:181021565 (GRCh37)
Canonical SPDI:: NC_000001.11:181052428:G:A
Gene:: MR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.181052429G>A, NC_000001.10:g.181021565G>A, NG_042221.1:g.24005G>A, NM_001531.3:c.799G>A, NM_001531.2:c.799G>A, NM_001194999.2:c.664G>A, NM_001194999.1:c.664G>A, NM_001385161.1:c.799G>A, NM_001385162.1:c.712G>A, XM_011509463.3:c.538G>A, XM_011509463.2:c.538G>A, XM_011509463.1:c.538G>A, XM_047418899.1:c.712G>A, NP_001522.1:p.Glu267Lys, NP_001181928.1:p.Glu222Lys, NP_001372090.1:p.Glu267Lys, NP_001372091.1:p.Glu238Lys, XP_011507765.1:p.Glu180Lys, XP_047274855.1:p.Glu238Lys

Select item 146407913311.

rs1464079133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:181053576 (GRCh38)
1:181022712 (GRCh37)
Canonical SPDI:: NC_000001.11:181053575:C:A
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181053576C>A, NC_000001.10:g.181022712C>A, NG_042221.1:g.25152C>A, NM_001531.3:c.884C>A, NM_001531.2:c.884C>A, NM_001194999.2:c.749C>A, NM_001194999.1:c.749C>A, NM_001310213.2:c.395C>A, NM_001310213.1:c.395C>A, NM_001195000.2:c.608C>A, NM_001195000.1:c.608C>A, NM_001385161.1:c.884C>A, NM_001385162.1:c.797C>A, NM_001385164.1:c.608C>A, XM_011509463.3:c.623C>A, XM_011509463.2:c.623C>A, XM_011509463.1:c.623C>A, XM_047418899.1:c.797C>A, NP_001522.1:p.Ser295Ter, NP_001181928.1:p.Ser250Ter, NP_001297142.1:p.Ser132Ter, NP_001181929.1:p.Ser203Ter, NP_001372090.1:p.Ser295Ter, NP_001372091.1:p.Ser266Ter, NP_001372093.1:p.Ser203Ter, XP_011507765.1:p.Ser208Ter, XP_047274855.1:p.Ser266Ter

Select item 145861110112.

rs1458611101 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:181049136 (GRCh38)
1:181018272 (GRCh37)
Canonical SPDI:: NC_000001.11:181049135:A:
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.181049136del, NC_000001.10:g.181018272del, NG_042221.1:g.20712del, NM_001531.3:c.152del, NM_001531.2:c.152del, NM_001194999.2:c.152del, NM_001194999.1:c.152del, NM_001310213.2:c.-62del, NM_001310213.1:c.-62del, NM_001195000.2:c.152del, NM_001195000.1:c.152del, NM_001195035.2:c.152del, NM_001195035.1:c.152del, NM_001385161.1:c.152del, NM_001385162.1:c.152del, NM_001385164.1:c.152del, NM_001385163.1:c.152del, XM_047418899.1:c.152del, NP_001522.1:p.Asp51fs, NP_001181928.1:p.Asp51fs, NP_001181929.1:p.Asp51fs, NP_001181964.1:p.Asp51fs, NP_001372090.1:p.Asp51fs, NP_001372091.1:p.Asp51fs, NP_001372093.1:p.Asp51fs, NP_001372092.1:p.Asp51fs, XP_047274855.1:p.Asp51fs

Select item 145564637413.

rs1455646374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:181052397 (GRCh38)
1:181021533 (GRCh37)
Canonical SPDI:: NC_000001.11:181052396:G:T
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000001.11:g.181052397G>T, NC_000001.10:g.181021533G>T, NG_042221.1:g.23973G>T, NM_001531.3:c.767G>T, NM_001531.2:c.767G>T, NM_001194999.2:c.632G>T, NM_001194999.1:c.632G>T, NM_001385161.1:c.767G>T, NM_001385162.1:c.680G>T, XM_011509463.3:c.506G>T, XM_011509463.2:c.506G>T, XM_011509463.1:c.506G>T, XM_047418899.1:c.680G>T, NP_001522.1:p.Gly256Val, NP_001181928.1:p.Gly211Val, NP_001372090.1:p.Gly256Val, NP_001372091.1:p.Gly227Val, XP_011507765.1:p.Gly169Val, XP_047274855.1:p.Gly227Val

Select item 145271598014.

rs1452715980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:181055256 (GRCh38)
1:181024392 (GRCh37)
Canonical SPDI:: NC_000001.11:181055255:A:G
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181055256A>G, NC_000001.10:g.181024392A>G, NG_042221.1:g.26832A>G, NM_001531.3:c.1017A>G, NM_001531.2:c.1017A>G, NM_001194999.2:c.882A>G, NM_001194999.1:c.882A>G, NM_001310213.2:c.528A>G, NM_001310213.1:c.528A>G, NM_001195000.2:c.741A>G, NM_001195000.1:c.741A>G, NM_001195035.2:c.636A>G, NM_001195035.1:c.636A>G, NM_001385161.1:c.1017A>G, NM_001385162.1:c.930A>G, NM_001385164.1:c.741A>G, XM_011509463.3:c.756A>G, XM_011509463.2:c.756A>G, XM_011509463.1:c.756A>G, XM_047418899.1:c.930A>G

Select item 145171113115.

rs1451711131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:181049056 (GRCh38)
1:181018192 (GRCh37)
Canonical SPDI:: NC_000001.11:181049055:G:A
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.181049056G>A, NC_000001.10:g.181018192G>A, NG_042221.1:g.20632G>A, NM_001531.3:c.72G>A, NM_001531.2:c.72G>A, NM_001194999.2:c.72G>A, NM_001194999.1:c.72G>A, NM_001310213.2:c.-142G>A, NM_001310213.1:c.-142G>A, NM_001195000.2:c.72G>A, NM_001195000.1:c.72G>A, NM_001195035.2:c.72G>A, NM_001195035.1:c.72G>A, NM_001385161.1:c.72G>A, NM_001385162.1:c.72G>A, NM_001385164.1:c.72G>A, NM_001385163.1:c.72G>A, XM_047418899.1:c.72G>A

Select item 144694243416.

rs1446942434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:181052510 (GRCh38)
1:181021646 (GRCh37)
Canonical SPDI:: NC_000001.11:181052509:G:A,NC_000001.11:181052509:G:T
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.181052510G>A, NC_000001.11:g.181052510G>T, NC_000001.10:g.181021646G>A, NC_000001.10:g.181021646G>T, NG_042221.1:g.24086G>A, NG_042221.1:g.24086G>T, NM_001531.3:c.880G>A, NM_001531.3:c.880G>T, NM_001531.2:c.880G>A, NM_001531.2:c.880G>T, NM_001194999.2:c.745G>A, NM_001194999.2:c.745G>T, NM_001194999.1:c.745G>A, NM_001194999.1:c.745G>T, NM_001385161.1:c.880G>A, NM_001385161.1:c.880G>T, NM_001385162.1:c.793G>A, NM_001385162.1:c.793G>T, XM_011509463.3:c.619G>A, XM_011509463.3:c.619G>T, XM_011509463.2:c.619G>A, XM_011509463.2:c.619G>T, XM_011509463.1:c.619G>A, XM_011509463.1:c.619G>T, XM_047418899.1:c.793G>A, XM_047418899.1:c.793G>T, NP_001522.1:p.Glu294Lys, NP_001522.1:p.Glu294Ter, NP_001181928.1:p.Glu249Lys, NP_001181928.1:p.Glu249Ter, NP_001372090.1:p.Glu294Lys, NP_001372090.1:p.Glu294Ter, NP_001372091.1:p.Glu265Lys, NP_001372091.1:p.Glu265Ter, XP_011507765.1:p.Glu207Lys, XP_011507765.1:p.Glu207Ter, XP_047274855.1:p.Glu265Lys, XP_047274855.1:p.Glu265Ter

Select item 144513206217.

rs1445132062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:181055240 (GRCh38)
1:181024376 (GRCh37)
Canonical SPDI:: NC_000001.11:181055239:T:C
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.181055240T>C, NC_000001.10:g.181024376T>C, NG_042221.1:g.26816T>C, NM_001531.3:c.1001T>C, NM_001531.2:c.1001T>C, NM_001194999.2:c.866T>C, NM_001194999.1:c.866T>C, NM_001310213.2:c.512T>C, NM_001310213.1:c.512T>C, NM_001195000.2:c.725T>C, NM_001195000.1:c.725T>C, NM_001195035.2:c.620T>C, NM_001195035.1:c.620T>C, NM_001385161.1:c.1001T>C, NM_001385162.1:c.914T>C, NM_001385164.1:c.725T>C, XM_011509463.3:c.740T>C, XM_011509463.2:c.740T>C, XM_011509463.1:c.740T>C, XM_047418899.1:c.914T>C, NP_001522.1:p.Ile334Thr, NP_001181928.1:p.Ile289Thr, NP_001297142.1:p.Ile171Thr, NP_001181929.1:p.Ile242Thr, NP_001181964.1:p.Ile207Thr, NP_001372090.1:p.Ile334Thr, NP_001372091.1:p.Ile305Thr, NP_001372093.1:p.Ile242Thr, XP_011507765.1:p.Ile247Thr, XP_047274855.1:p.Ile305Thr

Select item 144008165018.

rs1440081650 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:181049165 (GRCh38)
1:181018301 (GRCh37)
Canonical SPDI:: NC_000001.11:181049162:GTGT:GT
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.181049163GT[1], NC_000001.10:g.181018299GT[1], NG_042221.1:g.20739GT[1], NM_001531.3:c.181_182del, NM_001531.2:c.181_182del, NM_001194999.2:c.181_182del, NM_001194999.1:c.181_182del, NM_001310213.2:c.-35GT[1], NM_001310213.1:c.-35GT[1], NM_001195000.2:c.181_182del, NM_001195000.1:c.181_182del, NM_001195035.2:c.181_182del, NM_001195035.1:c.181_182del, NM_001385161.1:c.181_182del, NM_001385162.1:c.181_182del, NM_001385164.1:c.181_182del, NM_001385163.1:c.181_182del, XM_047418899.1:c.181_182del, NP_001522.1:p.Val61fs, NP_001181928.1:p.Val61fs, NP_001181929.1:p.Val61fs, NP_001181964.1:p.Val61fs, NP_001372090.1:p.Val61fs, NP_001372091.1:p.Val61fs, NP_001372093.1:p.Val61fs, NP_001372092.1:p.Val61fs, XP_047274855.1:p.Val61fs

Select item 143923306619.

rs1439233066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:181049181 (GRCh38)
1:181018317 (GRCh37)
Canonical SPDI:: NC_000001.11:181049180:A:C
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.181049181A>C, NC_000001.10:g.181018317A>C, NG_042221.1:g.20757A>C, NM_001531.3:c.197A>C, NM_001531.2:c.197A>C, NM_001194999.2:c.197A>C, NM_001194999.1:c.197A>C, NM_001310213.2:c.-17A>C, NM_001310213.1:c.-17A>C, NM_001195000.2:c.197A>C, NM_001195000.1:c.197A>C, NM_001195035.2:c.197A>C, NM_001195035.1:c.197A>C, NM_001385161.1:c.197A>C, NM_001385162.1:c.197A>C, NM_001385164.1:c.197A>C, NM_001385163.1:c.197A>C, XM_047418899.1:c.197A>C, NP_001522.1:p.Glu66Ala, NP_001181928.1:p.Glu66Ala, NP_001181929.1:p.Glu66Ala, NP_001181964.1:p.Glu66Ala, NP_001372090.1:p.Glu66Ala, NP_001372091.1:p.Glu66Ala, NP_001372093.1:p.Glu66Ala, NP_001372092.1:p.Glu66Ala, XP_047274855.1:p.Glu66Ala

Select item 143698976120.

rs1436989761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:181049090 (GRCh38)
1:181018226 (GRCh37)
Canonical SPDI:: NC_000001.11:181049089:G:A
Gene:: MR1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.181049090G>A, NC_000001.10:g.181018226G>A, NG_042221.1:g.20666G>A, NM_001531.3:c.106G>A, NM_001531.2:c.106G>A, NM_001194999.2:c.106G>A, NM_001194999.1:c.106G>A, NM_001310213.2:c.-108G>A, NM_001310213.1:c.-108G>A, NM_001195000.2:c.106G>A, NM_001195000.1:c.106G>A, NM_001195035.2:c.106G>A, NM_001195035.1:c.106G>A, NM_001385161.1:c.106G>A, NM_001385162.1:c.106G>A, NM_001385164.1:c.106G>A, NM_001385163.1:c.106G>A, XM_047418899.1:c.106G>A, NP_001522.1:p.Asp36Asn, NP_001181928.1:p.Asp36Asn, NP_001181929.1:p.Asp36Asn, NP_001181964.1:p.Asp36Asn, NP_001372090.1:p.Asp36Asn, NP_001372091.1:p.Asp36Asn, NP_001372093.1:p.Asp36Asn, NP_001372092.1:p.Asp36Asn, XP_047274855.1:p.Asp36Asn

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