SNP Links for Protein (Select 60302883) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:126346223 (GRCh38)
6:126667369 (GRCh37)
Canonical SPDI:: NC_000006.12:126346222:C:T
Gene:: CENPW (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.126346223C>T, NC_000006.11:g.126667369C>T, NM_001012507.4:c.145C>T, NM_001012507.3:c.145C>T, NM_001012507.2:c.145C>T, NR_104462.2:n.304C>T, NR_104462.1:n.630C>T, NM_001286524.2:c.190C>T, NM_001286524.1:c.190C>T

Select item 133443458514.

rs1334434585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:126346219 (GRCh38)
6:126667365 (GRCh37)
Canonical SPDI:: NC_000006.12:126346218:T:C
Gene:: CENPW (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.126346219T>C, NC_000006.11:g.126667365T>C, NM_001012507.4:c.141T>C, NM_001012507.3:c.141T>C, NM_001012507.2:c.141T>C, NR_104462.2:n.300T>C, NR_104462.1:n.626T>C, NM_001286524.2:c.186T>C, NM_001286524.1:c.186T>C

Select item 133358343015.

rs1333583430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:126340393 (GRCh38)
6:126661539 (GRCh37)
Canonical SPDI:: NC_000006.12:126340392:C:T
Gene:: CENPW (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.126340393C>T, NC_000006.11:g.126661539C>T, NM_001012507.4:c.120C>T, NM_001012507.3:c.120C>T, NM_001012507.2:c.120C>T, NR_104462.2:n.279C>T, NR_104462.1:n.605C>T, NM_001286524.2:c.120C>T, NM_001286524.1:c.120C>T, NM_001286525.2:c.120C>T, NM_001286525.1:c.120C>T, XM_017010845.2:c.120C>T, XM_017010845.1:c.120C>T

Select item 133251348616.

rs1332513486 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:126348466 (GRCh38)
6:126669613 (GRCh37)
Canonical SPDI:: NC_000006.12:126348466:T:TT
Gene:: CENPW (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.126348467dup, NC_000006.11:g.126669613dup, NM_001012507.4:c.242dup, NM_001012507.3:c.242dup, NM_001012507.2:c.242dup, NM_001286524.2:c.287dup, NM_001286524.1:c.287dup, NM_001286525.2:c.202dup, NM_001286525.1:c.202dup, NP_001012525.1:p.Ile82fs, NP_001273453.1:p.Ile97fs, NP_001273454.1:p.Ter68LeuextTer?

Select item 132434035517.

rs1324340355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:126340370 (GRCh38)
6:126661516 (GRCh37)
Canonical SPDI:: NC_000006.12:126340369:C:T
Gene:: CENPW (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.126340370C>T, NC_000006.11:g.126661516C>T, NM_001012507.4:c.97C>T, NM_001012507.3:c.97C>T, NM_001012507.2:c.97C>T, NR_104462.2:n.256C>T, NR_104462.1:n.582C>T, NM_001286524.2:c.97C>T, NM_001286524.1:c.97C>T, NM_001286525.2:c.97C>T, NM_001286525.1:c.97C>T, XM_017010845.2:c.97C>T, XM_017010845.1:c.97C>T, NP_001012525.1:p.Leu33Phe, NP_001273453.1:p.Leu33Phe, NP_001273454.1:p.Leu33Phe, XP_016866334.1:p.Leu33Phe

Select item 131730112918.

rs1317301129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:126340367 (GRCh38)
6:126661513 (GRCh37)
Canonical SPDI:: NC_000006.12:126340366:C:G
Gene:: CENPW (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.126340367C>G, NC_000006.11:g.126661513C>G, NM_001012507.4:c.94C>G, NM_001012507.3:c.94C>G, NM_001012507.2:c.94C>G, NR_104462.2:n.253C>G, NR_104462.1:n.579C>G, NM_001286524.2:c.94C>G, NM_001286524.1:c.94C>G, NM_001286525.2:c.94C>G, NM_001286525.1:c.94C>G, XM_017010845.2:c.94C>G, XM_017010845.1:c.94C>G, NP_001012525.1:p.Gln32Glu, NP_001273453.1:p.Gln32Glu, NP_001273454.1:p.Gln32Glu, XP_016866334.1:p.Gln32Glu

Select item 130935339819.

rs1309353398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:126346209 (GRCh38)
6:126667355 (GRCh37)
Canonical SPDI:: NC_000006.12:126346208:A:G
Gene:: CENPW (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.126346209A>G, NC_000006.11:g.126667355A>G, NM_001012507.4:c.131A>G, NM_001012507.3:c.131A>G, NM_001012507.2:c.131A>G, NR_104462.2:n.290A>G, NR_104462.1:n.616A>G, NM_001286524.2:c.176A>G, NM_001286524.1:c.176A>G, NP_001012525.1:p.His44Arg, NP_001273453.1:p.His59Arg

Select item 130476294520.

rs1304762945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:126346285 (GRCh38)
6:126667431 (GRCh37)
Canonical SPDI:: NC_000006.12:126346284:C:T
Gene:: CENPW (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.126346285C>T, NC_000006.11:g.126667431C>T, NM_001012507.4:c.207C>T, NM_001012507.3:c.207C>T, NM_001012507.2:c.207C>T, NR_104462.2:n.366C>T, NR_104462.1:n.692C>T, NM_001286524.2:c.252C>T, NM_001286524.1:c.252C>T, NM_001286525.2:c.167C>T, NM_001286525.1:c.167C>T, XM_017010845.2:c.167C>T, XM_017010845.1:c.167C>T, NP_001273454.1:p.Ser56Leu, XP_016866334.1:p.Ser56Leu

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