SNP Links for Protein (Select 1059433494) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 432

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Select item 14870800511.

rs1487080051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3504819 (GRCh38)
16:3554819 (GRCh37)
Canonical SPDI:: NC_000016.10:3504818:G:A
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.3504819G>A, NC_000016.9:g.3554819G>A, NG_047131.1:g.8875G>A, NM_015041.3:c.122G>A, NM_015041.2:c.122G>A, NM_001330454.2:c.122G>A, NM_001330454.1:c.122G>A, XM_047433799.1:c.89G>A, XM_047433797.1:c.203G>A, XM_047433798.1:c.203G>A, XM_047433800.1:c.203G>A, NP_055856.1:p.Trp41Ter, NP_001317383.1:p.Trp41Ter, XP_047289755.1:p.Trp30Ter, XP_047289753.1:p.Trp68Ter, XP_047289754.1:p.Trp68Ter, XP_047289756.1:p.Trp68Ter

Select item 14862126052.

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 14840090223.

rs1484009022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3501088 (GRCh38)
16:3551088 (GRCh37)
Canonical SPDI:: NC_000016.10:3501087:C:T
Gene:: CLUAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.3501088C>T, NC_000016.9:g.3551088C>T, NG_047131.1:g.5144C>T, NM_015041.3:c.21C>T, NM_015041.2:c.21C>T, NM_001330454.2:c.21C>T, NM_001330454.1:c.21C>T, XM_017023073.2:c.-84C>T, XM_017023073.1:c.-84C>T, XM_047433799.1:c.-1008C>T

Select item 14834614814.

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 14806123555.

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 14798035906.

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

Select item 14769001977.

rs1476900197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3532807 (GRCh38)
16:3582807 (GRCh37)
Canonical SPDI:: NC_000016.10:3532806:T:C
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3532807T>C, NC_000016.9:g.3582807T>C, NG_047131.1:g.36863T>C, NM_015041.3:c.1058T>C, NM_015041.2:c.1058T>C, NM_024793.3:c.560T>C, NM_024793.2:c.560T>C, NM_001330454.2:c.1058T>C, NM_001330454.1:c.1058T>C, XM_017023073.2:c.842T>C, XM_017023073.1:c.842T>C, XM_047433799.1:c.1025T>C, XM_047433797.1:c.1139T>C, XM_047433798.1:c.1139T>C, NP_055856.1:p.Val353Ala, NP_079069.1:p.Val187Ala, NP_001317383.1:p.Val353Ala, XP_016878562.1:p.Val281Ala, XP_047289755.1:p.Val342Ala, XP_047289753.1:p.Val380Ala, XP_047289754.1:p.Val380Ala

Select item 14721458268.

rs1472145826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:3533105 (GRCh38)
16:3583105 (GRCh37)
Canonical SPDI:: NC_000016.10:3533104:G:C,NC_000016.10:3533104:G:T
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000029/4 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
T=0.00463/1 (Vietnamese)
HGVS:: NC_000016.10:g.3533105G>C, NC_000016.10:g.3533105G>T, NC_000016.9:g.3583105G>C, NC_000016.9:g.3583105G>T, NG_047131.1:g.37161G>C, NG_047131.1:g.37161G>T, NM_001330454.2:c.1099G>C, NM_001330454.2:c.1099G>T, NM_001330454.1:c.1099G>C, NM_001330454.1:c.1099G>T, XM_017023073.2:c.883G>C, XM_017023073.2:c.883G>T, XM_017023073.1:c.883G>C, XM_017023073.1:c.883G>T, XM_047433799.1:c.1066G>C, XM_047433799.1:c.1066G>T, XM_047433797.1:c.1180G>C, XM_047433797.1:c.1180G>T, NP_001317383.1:p.Ala367Pro, NP_001317383.1:p.Ala367Ser, XP_016878562.1:p.Ala295Pro, XP_016878562.1:p.Ala295Ser, XP_047289755.1:p.Ala356Pro, XP_047289755.1:p.Ala356Ser, XP_047289753.1:p.Ala394Pro, XP_047289753.1:p.Ala394Ser

Select item 14713757779.

rs1471375777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:3512473 (GRCh38)
16:3562473 (GRCh37)
Canonical SPDI:: NC_000016.10:3512472:T:G
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3512473T>G, NC_000016.9:g.3562473T>G, NG_047131.1:g.16529T>G, NM_015041.3:c.490T>G, NM_015041.2:c.490T>G, NM_001330454.2:c.490T>G, NM_001330454.1:c.490T>G, XM_017023073.2:c.274T>G, XM_017023073.1:c.274T>G, XM_047433799.1:c.457T>G, XM_047433797.1:c.571T>G, XM_047433798.1:c.571T>G, XM_047433800.1:c.571T>G, NP_055856.1:p.Leu164Val, NP_001317383.1:p.Leu164Val, XP_016878562.1:p.Leu92Val, XP_047289755.1:p.Leu153Val, XP_047289753.1:p.Leu191Val, XP_047289754.1:p.Leu191Val, XP_047289756.1:p.Leu191Val

Select item 146952448410.

rs1469524484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3519997 (GRCh38)
16:3569997 (GRCh37)
Canonical SPDI:: NC_000016.10:3519996:A:G
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3519997A>G, NC_000016.9:g.3569997A>G, NG_047131.1:g.24053A>G, NM_015041.3:c.674A>G, NM_015041.2:c.674A>G, NM_024793.3:c.176A>G, NM_024793.2:c.176A>G, NM_001330454.2:c.674A>G, NM_001330454.1:c.674A>G, XM_017023073.2:c.458A>G, XM_017023073.1:c.458A>G, XM_047433799.1:c.641A>G, XM_047433797.1:c.755A>G, XM_047433798.1:c.755A>G, XM_047433800.1:c.755A>G, NP_055856.1:p.Glu225Gly, NP_079069.1:p.Glu59Gly, NP_001317383.1:p.Glu225Gly, XP_016878562.1:p.Glu153Gly, XP_047289755.1:p.Glu214Gly, XP_047289753.1:p.Glu252Gly, XP_047289754.1:p.Glu252Gly, XP_047289756.1:p.Glu252Gly

Select item 146896676211.

rs1468966762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3536229 (GRCh38)
16:3586229 (GRCh37)
Canonical SPDI:: NC_000016.10:3536228:C:T
Gene:: CLUAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3536229C>T, NC_000016.9:g.3586229C>T, NG_047131.1:g.40285C>T, NM_015041.3:c.1200C>T, NM_015041.2:c.1200C>T, NM_024793.3:c.702C>T, NM_024793.2:c.702C>T, NM_001330454.2:c.1257C>T, NM_001330454.1:c.1257C>T, XM_017023073.2:c.1041C>T, XM_017023073.1:c.1041C>T, XM_047433799.1:c.1224C>T, XM_047433797.1:c.1338C>T, XM_047433798.1:c.1281C>T

Select item 146366945112.

rs1463669451 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:3506349 (GRCh38)
16:3556349 (GRCh37)
Canonical SPDI:: NC_000016.10:3506347:ACA:A
Gene:: CLUAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.3506349_3506350del, NC_000016.9:g.3556349_3556350del, NG_047131.1:g.10405_10406del, NM_015041.3:c.153_154del, NM_015041.2:c.153_154del, NM_001330454.2:c.153_154del, NM_001330454.1:c.153_154del, XM_017023073.2:c.-64_-63del, XM_017023073.1:c.-64_-63del, XM_047433799.1:c.120_121del, XM_047433797.1:c.234_235del, XM_047433798.1:c.234_235del, XM_047433800.1:c.234_235del, NP_055856.1:p.Ile52fs, NP_001317383.1:p.Ile52fs, XP_047289755.1:p.Ile41fs, XP_047289753.1:p.Ile79fs, XP_047289754.1:p.Ile79fs, XP_047289756.1:p.Ile79fs

Select item 145963898913.

rs1459638989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3523267 (GRCh38)
16:3573267 (GRCh37)
Canonical SPDI:: NC_000016.10:3523266:G:A
Gene:: CLUAP1 (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_000016.10:g.3523267G>A, NC_000016.9:g.3573267G>A, NG_047131.1:g.27323G>A, NM_015041.3:c.823G>A, NM_015041.2:c.823G>A, NM_024793.3:c.325G>A, NM_024793.2:c.325G>A, NM_001330454.2:c.823G>A, NM_001330454.1:c.823G>A, XM_017023073.2:c.607G>A, XM_017023073.1:c.607G>A, XM_047433799.1:c.790G>A, XM_047433797.1:c.904G>A, XM_047433798.1:c.904G>A, XM_047433800.1:c.904G>A, NP_055856.1:p.Asp275Asn, NP_079069.1:p.Asp109Asn, NP_001317383.1:p.Asp275Asn, XP_016878562.1:p.Asp203Asn, XP_047289755.1:p.Asp264Asn, XP_047289753.1:p.Asp302Asn, XP_047289754.1:p.Asp302Asn, XP_047289756.1:p.Asp302Asn

Select item 145672679614.

rs1456726796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3536170 (GRCh38)
16:3586170 (GRCh37)
Canonical SPDI:: NC_000016.10:3536169:G:A
Gene:: CLUAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3536170G>A, NC_000016.9:g.3586170G>A, NG_047131.1:g.40226G>A, NM_015041.3:c.1141G>A, NM_015041.2:c.1141G>A, NM_024793.3:c.643G>A, NM_024793.2:c.643G>A, NM_001330454.2:c.1198G>A, NM_001330454.1:c.1198G>A, XM_017023073.2:c.982G>A, XM_017023073.1:c.982G>A, XM_047433799.1:c.1165G>A, XM_047433797.1:c.1279G>A, XM_047433798.1:c.1222G>A, NP_055856.1:p.Asp381Asn, NP_079069.1:p.Asp215Asn, NP_001317383.1:p.Asp400Asn, XP_016878562.1:p.Asp328Asn, XP_047289755.1:p.Asp389Asn, XP_047289753.1:p.Asp427Asn, XP_047289754.1:p.Asp408Asn

Select item 145519176515.

rs1455191765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3504759 (GRCh38)
16:3554759 (GRCh37)
Canonical SPDI:: NC_000016.10:3504758:A:G
Gene:: CLUAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.3504759A>G, NC_000016.9:g.3554759A>G, NG_047131.1:g.8815A>G, NM_015041.3:c.62A>G, NM_015041.2:c.62A>G, NM_001330454.2:c.62A>G, NM_001330454.1:c.62A>G, XM_047433799.1:c.29A>G, XM_047433797.1:c.143A>G, XM_047433798.1:c.143A>G, XM_047433800.1:c.143A>G, NP_055856.1:p.His21Arg, NP_001317383.1:p.His21Arg, XP_047289755.1:p.His10Arg, XP_047289753.1:p.His48Arg, XP_047289754.1:p.His48Arg, XP_047289756.1:p.His48Arg

Select item 145349965816.

rs1453499658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3519963 (GRCh38)
16:3569963 (GRCh37)
Canonical SPDI:: NC_000016.10:3519962:G:A
Gene:: CLUAP1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3519963G>A, NC_000016.9:g.3569963G>A, NG_047131.1:g.24019G>A, NM_015041.3:c.640G>A, NM_015041.2:c.640G>A, NM_024793.3:c.142G>A, NM_024793.2:c.142G>A, NM_001330454.2:c.640G>A, NM_001330454.1:c.640G>A, XM_017023073.2:c.424G>A, XM_017023073.1:c.424G>A, XM_047433799.1:c.607G>A, XM_047433797.1:c.721G>A, XM_047433798.1:c.721G>A, XM_047433800.1:c.721G>A, NP_055856.1:p.Glu214Lys, NP_079069.1:p.Glu48Lys, NP_001317383.1:p.Glu214Lys, XP_016878562.1:p.Glu142Lys, XP_047289755.1:p.Glu203Lys, XP_047289753.1:p.Glu241Lys, XP_047289754.1:p.Glu241Lys, XP_047289756.1:p.Glu241Lys

Select item 145127990217.

rs1451279902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:3520007 (GRCh38)
16:3570007 (GRCh37)
Canonical SPDI:: NC_000016.10:3520006:G:T
Gene:: CLUAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3520007G>T, NC_000016.9:g.3570007G>T, NG_047131.1:g.24063G>T, NM_015041.3:c.684G>T, NM_015041.2:c.684G>T, NM_024793.3:c.186G>T, NM_024793.2:c.186G>T, NM_001330454.2:c.684G>T, NM_001330454.1:c.684G>T, XM_017023073.2:c.468G>T, XM_017023073.1:c.468G>T, XM_047433799.1:c.651G>T, XM_047433797.1:c.765G>T, XM_047433798.1:c.765G>T, XM_047433800.1:c.765G>T

Select item 145113489818.

rs1451134898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:3536147 (GRCh38)
16:3586147 (GRCh37)
Canonical SPDI:: NC_000016.10:3536146:A:C
Gene:: CLUAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3536147A>C, NC_000016.9:g.3586147A>C, NG_047131.1:g.40203A>C, NM_015041.3:c.1118A>C, NM_015041.2:c.1118A>C, NM_024793.3:c.620A>C, NM_024793.2:c.620A>C, NM_001330454.2:c.1175A>C, NM_001330454.1:c.1175A>C, XM_017023073.2:c.959A>C, XM_017023073.1:c.959A>C, XM_047433799.1:c.1142A>C, XM_047433797.1:c.1256A>C, XM_047433798.1:c.1199A>C, NP_055856.1:p.Asp373Ala, NP_079069.1:p.Asp207Ala, NP_001317383.1:p.Asp392Ala, XP_016878562.1:p.Asp320Ala, XP_047289755.1:p.Asp381Ala, XP_047289753.1:p.Asp419Ala, XP_047289754.1:p.Asp400Ala

Select item 144792329319.

rs1447923293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3504756 (GRCh38)
16:3554756 (GRCh37)
Canonical SPDI:: NC_000016.10:3504755:G:A
Gene:: CLUAP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.3504756G>A, NC_000016.9:g.3554756G>A, NG_047131.1:g.8812G>A, NM_015041.3:c.59G>A, NM_015041.2:c.59G>A, NM_001330454.2:c.59G>A, NM_001330454.1:c.59G>A, XM_047433799.1:c.26G>A, XM_047433797.1:c.140G>A, XM_047433798.1:c.140G>A, XM_047433800.1:c.140G>A, NP_055856.1:p.Arg20Gln, NP_001317383.1:p.Arg20Gln, XP_047289755.1:p.Arg9Gln, XP_047289753.1:p.Arg47Gln, XP_047289754.1:p.Arg47Gln, XP_047289756.1:p.Arg47Gln

Select item 144729017520.

rs1447290175 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:3508347 (GRCh38)
16:3558348 (GRCh37)
Canonical SPDI:: NC_000016.10:3508347:GG:GGG
Gene:: CLUAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3508349dup, NC_000016.9:g.3558349dup, NG_047131.1:g.12405dup, NM_015041.3:c.280dup, NM_015041.2:c.280dup, NM_001330454.2:c.280dup, NM_001330454.1:c.280dup, XM_017023073.2:c.64dup, XM_017023073.1:c.64dup, XM_047433799.1:c.247dup, XM_047433797.1:c.361dup, XM_047433798.1:c.361dup, XM_047433800.1:c.361dup, NP_055856.1:p.Val94fs, NP_001317383.1:p.Val94fs, XP_016878562.1:p.Val22fs, XP_047289755.1:p.Val83fs, XP_047289753.1:p.Val121fs, XP_047289754.1:p.Val121fs, XP_047289756.1:p.Val121fs

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