SNP Links for Protein (Select 153791873) - SNP

Links from Protein

Items: 1 to 20 of 235

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Select item 14879485251.

rs1487948525 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: X:35803147 (GRCh38)
X:35821264 (GRCh37)
Canonical SPDI:: NC_000023.11:35803141:GAAGAAGA:GAAGA
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35803144AGA[1], NC_000023.10:g.35821261AGA[1], NM_001099921.2:c.948AGA[1], NM_001099921.1:c.948AGA[1], NM_001370159.1:c.948AGA[1], NM_001370158.1:c.948AGA[1], NP_001093391.1:p.Glu318del, NP_001357088.1:p.Glu318del, NP_001357087.1:p.Glu318del

Select item 14836673212.

rs1483667321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:35802710 (GRCh38)
X:35820827 (GRCh37)
Canonical SPDI:: NC_000023.11:35802709:G:A
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.35802710G>A, NC_000023.10:g.35820827G>A, NM_001099921.2:c.514G>A, NM_001099921.1:c.514G>A, NM_001370159.1:c.514G>A, NM_001370158.1:c.514G>A, NP_001093391.1:p.Glu172Lys, NP_001357088.1:p.Glu172Lys, NP_001357087.1:p.Glu172Lys

Select item 14831990643.

rs1483199064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:35802755 (GRCh38)
X:35820872 (GRCh37)
Canonical SPDI:: NC_000023.11:35802754:G:A
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802755G>A, NC_000023.10:g.35820872G>A, NM_001099921.2:c.559G>A, NM_001099921.1:c.559G>A, NM_001370159.1:c.559G>A, NM_001370158.1:c.559G>A, NP_001093391.1:p.Gly187Ser, NP_001357088.1:p.Gly187Ser, NP_001357087.1:p.Gly187Ser

Select item 14793040814.

rs1479304081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:35802417 (GRCh38)
X:35820534 (GRCh37)
Canonical SPDI:: NC_000023.11:35802416:C:T
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.35802417C>T, NC_000023.10:g.35820534C>T, NM_001099921.2:c.221C>T, NM_001099921.1:c.221C>T, NM_001370159.1:c.221C>T, NM_001370158.1:c.221C>T, NP_001093391.1:p.Ala74Val, NP_001357088.1:p.Ala74Val, NP_001357087.1:p.Ala74Val

Select item 14764016795.

rs1476401679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:35803158 (GRCh38)
X:35821275 (GRCh37)
Canonical SPDI:: NC_000023.11:35803157:G:T
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.35803158G>T, NC_000023.10:g.35821275G>T, NM_001099921.2:c.962G>T, NM_001099921.1:c.962G>T, NM_001370159.1:c.962G>T, NM_001370158.1:c.962G>T, NP_001093391.1:p.Arg321Ile, NP_001357088.1:p.Arg321Ile, NP_001357087.1:p.Arg321Ile

Select item 14735935456.

rs1473593545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:35802701 (GRCh38)
X:35820818 (GRCh37)
Canonical SPDI:: NC_000023.11:35802700:G:A
Gene:: MAGEB16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.35802701G>A, NC_000023.10:g.35820818G>A, NM_001099921.2:c.505G>A, NM_001099921.1:c.505G>A, NM_001370159.1:c.505G>A, NM_001370158.1:c.505G>A, NP_001093391.1:p.Asp169Asn, NP_001357088.1:p.Asp169Asn, NP_001357087.1:p.Asp169Asn

Select item 14718142647.

rs1471814264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:35802206 (GRCh38)
X:35820323 (GRCh37)
Canonical SPDI:: NC_000023.11:35802205:G:A,NC_000023.11:35802205:G:T
Gene:: MAGEB16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802206G>A, NC_000023.11:g.35802206G>T, NC_000023.10:g.35820323G>A, NC_000023.10:g.35820323G>T, NM_001099921.2:c.10G>A, NM_001099921.2:c.10G>T, NM_001099921.1:c.10G>A, NM_001099921.1:c.10G>T, NM_001370159.1:c.10G>A, NM_001370159.1:c.10G>T, NM_001370158.1:c.10G>A, NM_001370158.1:c.10G>T, NP_001093391.1:p.Asp4Asn, NP_001093391.1:p.Asp4Tyr, NP_001357088.1:p.Asp4Asn, NP_001357088.1:p.Asp4Tyr, NP_001357087.1:p.Asp4Asn, NP_001357087.1:p.Asp4Tyr

Select item 14703114368.

rs1470311436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:35802920 (GRCh38)
X:35821037 (GRCh37)
Canonical SPDI:: NC_000023.11:35802919:A:G
Gene:: MAGEB16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802920A>G, NC_000023.10:g.35821037A>G, NM_001099921.2:c.724A>G, NM_001099921.1:c.724A>G, NM_001370159.1:c.724A>G, NM_001370158.1:c.724A>G, NP_001093391.1:p.Ile242Val, NP_001357088.1:p.Ile242Val, NP_001357087.1:p.Ile242Val

Select item 14644580429.

rs1464458042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:35802821 (GRCh38)
X:35820938 (GRCh37)
Canonical SPDI:: NC_000023.11:35802820:G:A
Gene:: MAGEB16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802821G>A, NC_000023.10:g.35820938G>A, NM_001099921.2:c.625G>A, NM_001099921.1:c.625G>A, NM_001370159.1:c.625G>A, NM_001370158.1:c.625G>A, NP_001093391.1:p.Val209Ile, NP_001357088.1:p.Val209Ile, NP_001357087.1:p.Val209Ile

Select item 146132645110.

rs1461326451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:35802873 (GRCh38)
X:35820990 (GRCh37)
Canonical SPDI:: NC_000023.11:35802872:G:A
Gene:: MAGEB16 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.35802873G>A, NC_000023.10:g.35820990G>A, NM_001099921.2:c.677G>A, NM_001099921.1:c.677G>A, NM_001370159.1:c.677G>A, NM_001370158.1:c.677G>A, NP_001093391.1:p.Trp226Ter, NP_001357088.1:p.Trp226Ter, NP_001357087.1:p.Trp226Ter

Select item 145837042911.

rs1458370429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:35802386 (GRCh38)
X:35820503 (GRCh37)
Canonical SPDI:: NC_000023.11:35802385:G:A,NC_000023.11:35802385:G:T
Gene:: MAGEB16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802386G>A, NC_000023.11:g.35802386G>T, NC_000023.10:g.35820503G>A, NC_000023.10:g.35820503G>T, NM_001099921.2:c.190G>A, NM_001099921.2:c.190G>T, NM_001099921.1:c.190G>A, NM_001099921.1:c.190G>T, NM_001370159.1:c.190G>A, NM_001370159.1:c.190G>T, NM_001370158.1:c.190G>A, NM_001370158.1:c.190G>T, NP_001093391.1:p.Val64Ile, NP_001093391.1:p.Val64Phe, NP_001357088.1:p.Val64Ile, NP_001357088.1:p.Val64Phe, NP_001357087.1:p.Val64Ile, NP_001357087.1:p.Val64Phe

Select item 145711530212.

rs1457115302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:35802559 (GRCh38)
X:35820676 (GRCh37)
Canonical SPDI:: NC_000023.11:35802558:G:A
Gene:: MAGEB16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802559G>A, NC_000023.10:g.35820676G>A, NM_001099921.2:c.363G>A, NM_001099921.1:c.363G>A, NM_001370159.1:c.363G>A, NM_001370158.1:c.363G>A

Select item 144950769713.

rs1449507697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:35802246 (GRCh38)
X:35820363 (GRCh37)
Canonical SPDI:: NC_000023.11:35802245:A:C
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000019/2 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000023.11:g.35802246A>C, NC_000023.10:g.35820363A>C, NM_001099921.2:c.50A>C, NM_001099921.1:c.50A>C, NM_001370159.1:c.50A>C, NM_001370158.1:c.50A>C, NP_001093391.1:p.Gln17Pro, NP_001357088.1:p.Gln17Pro, NP_001357087.1:p.Gln17Pro

Select item 144550663614.

rs1445506636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:35802815 (GRCh38)
X:35820932 (GRCh37)
Canonical SPDI:: NC_000023.11:35802814:A:T
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.35802815A>T, NC_000023.10:g.35820932A>T, NM_001099921.2:c.619A>T, NM_001099921.1:c.619A>T, NM_001370159.1:c.619A>T, NM_001370158.1:c.619A>T, NP_001093391.1:p.Ile207Leu, NP_001357088.1:p.Ile207Leu, NP_001357087.1:p.Ile207Leu

Select item 144416756815.

rs1444167568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:35802345 (GRCh38)
X:35820462 (GRCh37)
Canonical SPDI:: NC_000023.11:35802344:T:C
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.35802345T>C, NC_000023.10:g.35820462T>C, NM_001099921.2:c.149T>C, NM_001099921.1:c.149T>C, NM_001370159.1:c.149T>C, NM_001370158.1:c.149T>C, NP_001093391.1:p.Leu50Pro, NP_001357088.1:p.Leu50Pro, NP_001357087.1:p.Leu50Pro

Select item 144125837116.

rs1441258371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:35802788 (GRCh38)
X:35820905 (GRCh37)
Canonical SPDI:: NC_000023.11:35802787:A:T
Gene:: MAGEB16 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802788A>T, NC_000023.10:g.35820905A>T, NM_001099921.2:c.592A>T, NM_001099921.1:c.592A>T, NM_001370159.1:c.592A>T, NM_001370158.1:c.592A>T, NP_001093391.1:p.Lys198Ter, NP_001357088.1:p.Lys198Ter, NP_001357087.1:p.Lys198Ter

Select item 143714404017.

rs1437144040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:35802457 (GRCh38)
X:35820574 (GRCh37)
Canonical SPDI:: NC_000023.11:35802456:C:T
Gene:: MAGEB16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802457C>T, NC_000023.10:g.35820574C>T, NM_001099921.2:c.261C>T, NM_001099921.1:c.261C>T, NM_001370159.1:c.261C>T, NM_001370158.1:c.261C>T

Select item 142818171418.

rs1428181714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:35803125 (GRCh38)
X:35821242 (GRCh37)
Canonical SPDI:: NC_000023.11:35803124:C:G
Gene:: MAGEB16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.35803125C>G, NC_000023.10:g.35821242C>G, NM_001099921.2:c.929C>G, NM_001099921.1:c.929C>G, NM_001370159.1:c.929C>G, NM_001370158.1:c.929C>G, NP_001093391.1:p.Ala310Gly, NP_001357088.1:p.Ala310Gly, NP_001357087.1:p.Ala310Gly

Select item 142369363219.

rs1423693632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:35802553 (GRCh38)
X:35820670 (GRCh37)
Canonical SPDI:: NC_000023.11:35802552:T:C
Gene:: MAGEB16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.35802553T>C, NC_000023.10:g.35820670T>C, NM_001099921.2:c.357T>C, NM_001099921.1:c.357T>C, NM_001370159.1:c.357T>C, NM_001370158.1:c.357T>C

Select item 142154323320.

rs1421543233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:35803040 (GRCh38)
X:35821157 (GRCh37)
Canonical SPDI:: NC_000023.11:35803039:A:G
Gene:: MAGEB16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0./0 (SGDP_PRJ)
G=0.00001/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.35803040A>G, NC_000023.10:g.35821157A>G, NM_001099921.2:c.844A>G, NM_001099921.1:c.844A>G, NM_001370159.1:c.844A>G, NM_001370158.1:c.844A>G, NP_001093391.1:p.Lys282Glu, NP_001357088.1:p.Lys282Glu, NP_001357087.1:p.Lys282Glu

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