SNP Links for Protein (Select 1034594037) - SNP

Links from Protein

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Select item 14862126051.

rs1486212605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:3515575 (GRCh38)
16:3565575 (GRCh37)
Canonical SPDI:: NC_000016.10:3515574:C:G
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3515575C>G, NC_000016.9:g.3565575C>G, NG_047131.1:g.19631C>G, NM_015041.3:c.563C>G, NM_015041.2:c.563C>G, NM_024793.3:c.65C>G, NM_024793.2:c.65C>G, NM_001330454.2:c.563C>G, NM_001330454.1:c.563C>G, XM_017023073.2:c.347C>G, XM_017023073.1:c.347C>G, XM_047433799.1:c.530C>G, XM_047433797.1:c.644C>G, XM_047433798.1:c.644C>G, XM_047433800.1:c.644C>G, NP_055856.1:p.Ala188Gly, NP_079069.1:p.Ala22Gly, NP_001317383.1:p.Ala188Gly, XP_016878562.1:p.Ala116Gly, XP_047289755.1:p.Ala177Gly, XP_047289753.1:p.Ala215Gly, XP_047289754.1:p.Ala215Gly, XP_047289756.1:p.Ala215Gly

Select item 14834614812.

rs1483461481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3512447 (GRCh38)
16:3562447 (GRCh37)
Canonical SPDI:: NC_000016.10:3512446:A:G
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.3512447A>G, NC_000016.9:g.3562447A>G, NG_047131.1:g.16503A>G, NM_015041.3:c.464A>G, NM_015041.2:c.464A>G, NM_001330454.2:c.464A>G, NM_001330454.1:c.464A>G, XM_017023073.2:c.248A>G, XM_017023073.1:c.248A>G, XM_047433799.1:c.431A>G, XM_047433797.1:c.545A>G, XM_047433798.1:c.545A>G, XM_047433800.1:c.545A>G, NP_055856.1:p.Tyr155Cys, NP_001317383.1:p.Tyr155Cys, XP_016878562.1:p.Tyr83Cys, XP_047289755.1:p.Tyr144Cys, XP_047289753.1:p.Tyr182Cys, XP_047289754.1:p.Tyr182Cys, XP_047289756.1:p.Tyr182Cys

Select item 14806123553.

rs1480612355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:3532792 (GRCh38)
16:3582792 (GRCh37)
Canonical SPDI:: NC_000016.10:3532791:C:G
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3532792C>G, NC_000016.9:g.3582792C>G, NG_047131.1:g.36848C>G, NM_015041.3:c.1043C>G, NM_015041.2:c.1043C>G, NM_024793.3:c.545C>G, NM_024793.2:c.545C>G, NM_001330454.2:c.1043C>G, NM_001330454.1:c.1043C>G, XM_017023073.2:c.827C>G, XM_017023073.1:c.827C>G, XM_047433799.1:c.1010C>G, XM_047433797.1:c.1124C>G, XM_047433798.1:c.1124C>G, NP_055856.1:p.Pro348Arg, NP_079069.1:p.Pro182Arg, NP_001317383.1:p.Pro348Arg, XP_016878562.1:p.Pro276Arg, XP_047289755.1:p.Pro337Arg, XP_047289753.1:p.Pro375Arg, XP_047289754.1:p.Pro375Arg

Select item 14798035904.

rs1479803590 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:3530675 (GRCh38)
16:3580675 (GRCh37)
Canonical SPDI:: NC_000016.10:3530674:GG:G
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000016.10:g.3530676del, NC_000016.9:g.3580676del, NG_047131.1:g.34732del