SNP Links for Protein (Select 557948119) - SNP

Links from Protein

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Select item 14860110151.

rs1486011015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36070292 (GRCh38)
21:37442590 (GRCh37)
Canonical SPDI:: NC_000021.9:36070291:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.36070292C>T, NC_000021.8:g.37442590C>T, NM_001757.4:c.177C>T, NM_001757.3:c.177C>T, NM_001757.2:c.177C>T, NM_001286789.2:c.177C>T, NM_001286789.1:c.177C>T, NR_040084.1:n.571G>A

Select item 14851763902.

rs1485176390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:36071854 (GRCh38)
21:37444152 (GRCh37)
Canonical SPDI:: NC_000021.9:36071853:A:G
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.36071854A>G, NC_000021.8:g.37444152A>G, NM_001286789.2:c.437A>G, NM_001286789.1:c.437A>G, NP_001273718.1:p.Asn146Ser

Select item 14755771543.

rs1475577154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36070252 (GRCh38)
21:37442550 (GRCh37)
Canonical SPDI:: NC_000021.9:36070251:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.36070252C>T, NC_000021.8:g.37442550C>T, NM_001757.4:c.137C>T, NM_001757.3:c.137C>T, NM_001757.2:c.137C>T, NM_001286789.2:c.137C>T, NM_001286789.1:c.137C>T, NR_040084.1:n.611G>A, NP_001748.1:p.Ala46Val, NP_001273718.1:p.Ala46Val

Select item 14749953824.

rs1474995382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:36071852 (GRCh38)
21:37444150 (GRCh37)
Canonical SPDI:: NC_000021.9:36071851:A:G
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.36071852A>G, NC_000021.8:g.37444150A>G, NM_001286789.2:c.435A>G, NM_001286789.1:c.435A>G

Select item 14746675515.

rs1474667551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:36070395 (GRCh38)
21:37442693 (GRCh37)
Canonical SPDI:: NC_000021.9:36070394:G:A,NC_000021.9:36070394:G:C
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.36070395G>A, NC_000021.9:g.36070395G>C, NC_000021.8:g.37442693G>A, NC_000021.8:g.37442693G>C, NM_001757.4:c.280G>A, NM_001757.4:c.280G>C, NM_001757.3:c.280G>A, NM_001757.3:c.280G>C, NM_001757.2:c.280G>A, NM_001757.2:c.280G>C, NM_001286789.2:c.280G>A, NM_001286789.2:c.280G>C, NM_001286789.1:c.280G>A, NM_001286789.1:c.280G>C, NR_040084.1:n.468C>T, NR_040084.1:n.468C>G, NP_001748.1:p.Ala94Thr, NP_001748.1:p.Ala94Pro, NP_001273718.1:p.Ala94Thr, NP_001273718.1:p.Ala94Pro

Select item 14711733496.

rs1471173349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36070204 (GRCh38)
21:37442502 (GRCh37)
Canonical SPDI:: NC_000021.9:36070203:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36070204C>T, NC_000021.8:g.37442502C>T, NM_001757.4:c.89C>T, NM_001757.3:c.89C>T, NM_001757.2:c.89C>T, NM_001286789.2:c.89C>T, NM_001286789.1:c.89C>T, NR_040084.1:n.659G>A, NP_001748.1:p.Ser30Leu, NP_001273718.1:p.Ser30Leu

Select item 14696881987.

rs1469688198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:36070361 (GRCh38)
21:37442659 (GRCh37)
Canonical SPDI:: NC_000021.9:36070360:G:C
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.36070361G>C, NC_000021.8:g.37442659G>C, NM_001757.4:c.246G>C, NM_001757.3:c.246G>C, NM_001757.2:c.246G>C, NM_001286789.2:c.246G>C, NM_001286789.1:c.246G>C, NR_040084.1:n.502C>G

Select item 14673431098.

rs1467343109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:36070347 (GRCh38)
21:37442645 (GRCh37)
Canonical SPDI:: NC_000021.9:36070346:C:G,NC_000021.9:36070346:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000021.9:g.36070347C>G, NC_000021.9:g.36070347C>T, NC_000021.8:g.37442645C>G, NC_000021.8:g.37442645C>T, NM_001757.4:c.232C>G, NM_001757.4:c.232C>T, NM_001757.3:c.232C>G, NM_001757.3:c.232C>T, NM_001757.2:c.232C>G, NM_001757.2:c.232C>T, NM_001286789.2:c.232C>G, NM_001286789.2:c.232C>T, NM_001286789.1:c.232C>G, NM_001286789.1:c.232C>T, NR_040084.1:n.516G>C, NR_040084.1:n.516G>A, NP_001748.1:p.Arg78Gly, NP_001748.1:p.Arg78Cys, NP_001273718.1:p.Arg78Gly, NP_001273718.1:p.Arg78Cys

Select item 14669329249.

rs1466932924 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 21:36070336 (GRCh38)
21:37442634 (GRCh37)
Canonical SPDI:: NC_000021.9:36070335:G:
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36070336del, NC_000021.8:g.37442634del, NM_001757.4:c.221del, NM_001757.3:c.221del, NM_001757.2:c.221del, NM_001286789.2:c.221del, NM_001286789.1:c.221del, NR_040084.1:n.527del, NP_001748.1:p.Arg74fs, NP_001273718.1:p.Arg74fs

Select item 145905006610.

rs1459050066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36071054 (GRCh38)
21:37443352 (GRCh37)
Canonical SPDI:: NC_000021.9:36071053:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36071054C>T, NC_000021.8:g.37443352C>T, NM_001757.4:c.394C>T, NM_001757.3:c.394C>T, NM_001757.2:c.394C>T, NM_001286789.2:c.394C>T, NM_001286789.1:c.394C>T, NP_001748.1:p.Gln132Ter, NP_001273718.1:p.Gln132Ter

Select item 145551713211.

rs1455517132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:36070339 (GRCh38)
21:37442637 (GRCh37)
Canonical SPDI:: NC_000021.9:36070338:A:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36070339A>T, NC_000021.8:g.37442637A>T, NM_001757.4:c.224A>T, NM_001757.3:c.224A>T, NM_001757.2:c.224A>T, NM_001286789.2:c.224A>T, NM_001286789.1:c.224A>T, NR_040084.1:n.524T>A, NP_001748.1:p.Asp75Val, NP_001273718.1:p.Asp75Val

Select item 144316304012.

rs1443163040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:36071841 (GRCh38)
21:37444139 (GRCh37)
Canonical SPDI:: NC_000021.9:36071840:T:C
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.36071841T>C, NC_000021.8:g.37444139T>C, NM_001286789.2:c.424T>C, NM_001286789.1:c.424T>C, NP_001273718.1:p.Cys142Arg

Select item 144138424013.

rs1441384240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:36070123 (GRCh38)
21:37442421 (GRCh37)
Canonical SPDI:: NC_000021.9:36070122:C:G,NC_000021.9:36070122:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36070123C>G, NC_000021.9:g.36070123C>T, NC_000021.8:g.37442421C>G, NC_000021.8:g.37442421C>T, NM_001757.4:c.8C>G, NM_001757.4:c.8C>T, NM_001757.3:c.8C>G, NM_001757.3:c.8C>T, NM_001757.2:c.8C>G, NM_001757.2:c.8C>T, NM_001286789.2:c.8C>G, NM_001286789.2:c.8C>T, NM_001286789.1:c.8C>G, NM_001286789.1:c.8C>T, NR_040084.1:n.740G>C, NR_040084.1:n.740G>A, NP_001748.1:p.Ser3Cys, NP_001748.1:p.Ser3Phe, NP_001273718.1:p.Ser3Cys, NP_001273718.1:p.Ser3Phe

Select item 144138193614.

rs1441381936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:36070176 (GRCh38)
21:37442474 (GRCh37)
Canonical SPDI:: NC_000021.9:36070175:A:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36070176A>T, NC_000021.8:g.37442474A>T, NM_001757.4:c.61A>T, NM_001757.3:c.61A>T, NM_001757.2:c.61A>T, NM_001286789.2:c.61A>T, NM_001286789.1:c.61A>T, NR_040084.1:n.687T>A, NP_001748.1:p.Ile21Phe, NP_001273718.1:p.Ile21Phe

Select item 144003195715.

rs1440031957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36070244 (GRCh38)
21:37442542 (GRCh37)
Canonical SPDI:: NC_000021.9:36070243:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000021.9:g.36070244C>T, NC_000021.8:g.37442542C>T, NM_001757.4:c.129C>T, NM_001757.3:c.129C>T, NM_001757.2:c.129C>T, NM_001286789.2:c.129C>T, NM_001286789.1:c.129C>T, NR_040084.1:n.619G>A

Select item 143995022916.

rs1439950229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:36070363 (GRCh38)
21:37442661 (GRCh37)
Canonical SPDI:: NC_000021.9:36070362:G:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.36070363G>T, NC_000021.8:g.37442661G>T, NM_001757.4:c.248G>T, NM_001757.3:c.248G>T, NM_001757.2:c.248G>T, NM_001286789.2:c.248G>T, NM_001286789.1:c.248G>T, NR_040084.1:n.500C>A, NP_001748.1:p.Gly83Val, NP_001273718.1:p.Gly83Val

Select item 143703724717.

rs1437037247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:36071000 (GRCh38)
21:37443298 (GRCh37)
Canonical SPDI:: NC_000021.9:36070999:A:G
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36071000A>G, NC_000021.8:g.37443298A>G, NM_001757.4:c.340A>G, NM_001757.3:c.340A>G, NM_001757.2:c.340A>G, NM_001286789.2:c.340A>G, NM_001286789.1:c.340A>G, NP_001748.1:p.Asn114Asp, NP_001273718.1:p.Asn114Asp

Select item 143488807718.

rs1434888077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:36071913 (GRCh38)
21:37444211 (GRCh37)
Canonical SPDI:: NC_000021.9:36071912:C:A,NC_000021.9:36071912:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.00003/4 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000021.9:g.36071913C>A, NC_000021.9:g.36071913C>T, NC_000021.8:g.37444211C>A, NC_000021.8:g.37444211C>T, NM_001286789.2:c.496C>A, NM_001286789.2:c.496C>T, NM_001286789.1:c.496C>A, NM_001286789.1:c.496C>T, NP_001273718.1:p.Arg166Ser, NP_001273718.1:p.Arg166Cys

Select item 143277138219.

rs1432771382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:36070270 (GRCh38)
21:37442568 (GRCh37)
Canonical SPDI:: NC_000021.9:36070269:C:G,NC_000021.9:36070269:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.36070270C>G, NC_000021.9:g.36070270C>T, NC_000021.8:g.37442568C>G, NC_000021.8:g.37442568C>T, NM_001757.4:c.155C>G, NM_001757.4:c.155C>T, NM_001757.3:c.155C>G, NM_001757.3:c.155C>T, NM_001757.2:c.155C>G, NM_001757.2:c.155C>T, NM_001286789.2:c.155C>G, NM_001286789.2:c.155C>T, NM_001286789.1:c.155C>G, NM_001286789.1:c.155C>T, NR_040084.1:n.593G>C, NR_040084.1:n.593G>A, NP_001748.1:p.Ala52Gly, NP_001748.1:p.Ala52Val, NP_001273718.1:p.Ala52Gly, NP_001273718.1:p.Ala52Val

Select item 142906876220.

rs1429068762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36070147 (GRCh38)
21:37442445 (GRCh37)
Canonical SPDI:: NC_000021.9:36070146:C:T
Gene:: CBR1 (Varview), CBR1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.36070147C>T, NC_000021.8:g.37442445C>T, NM_001757.4:c.32C>T, NM_001757.3:c.32C>T, NM_001757.2:c.32C>T, NM_001286789.2:c.32C>T, NM_001286789.1:c.32C>T, NR_040084.1:n.716G>A, NP_001748.1:p.Thr11Ile, NP_001273718.1:p.Thr11Ile

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