SNP Links for Protein (Select 663070982) - SNP

Select item 14894060931.

rs1489406093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:154220345 (GRCh38)
1:154192821 (GRCh37)
Canonical SPDI:: NC_000001.11:154220344:G:A,NC_000001.11:154220344:G:C
Gene:: UBAP2L (Varview), C1orf43 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.154220345G>A, NC_000001.11:g.154220345G>C, NC_000001.10:g.154192821G>A, NC_000001.10:g.154192821G>C, NM_015449.4:c.63C>T, NM_015449.4:c.63C>G, NM_015449.3:c.63C>T, NM_015449.3:c.63C>G, NM_015449.2:c.63C>T, NM_015449.2:c.63C>G, NM_138740.4:c.63C>T, NM_138740.4:c.63C>G, NM_138740.3:c.63C>T, NM_138740.3:c.63C>G, NM_138740.2:c.63C>T, NM_138740.2:c.63C>G, NM_001098616.3:c.63C>T, NM_001098616.3:c.63C>G, NM_001098616.2:c.63C>T, NM_001098616.2:c.63C>G, NM_001098616.1:c.63C>T, NM_001098616.1:c.63C>G, NM_001297720.2:c.63C>T, NM_001297720.2:c.63C>G, NM_001297720.1:c.63C>T, NM_001297720.1:c.63C>G, NM_001297723.2:c.63C>T, NM_001297723.2:c.63C>G, NM_001297723.1:c.63C>T, NM_001297723.1:c.63C>G, NM_001297717.2:c.63C>T, NM_001297717.2:c.63C>G, NM_001297717.1:c.63C>T, NM_001297717.1:c.63C>G, NM_001297721.2:c.63C>T, NM_001297721.2:c.63C>G, NM_001297721.1:c.63C>T, NM_001297721.1:c.63C>G, XM_047417239.1:c.-27C>T, XM_047417239.1:c.-27C>G, NP_056264.1:p.Ser21Arg, NP_620077.1:p.Ser21Arg, NP_001092086.1:p.Ser21Arg, NP_001284649.1:p.Ser21Arg, NP_001284652.1:p.Ser21Arg, NP_001284646.1:p.Ser21Arg, NP_001284650.1:p.Ser21Arg

Select item 14864393302.

rs1486439330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154214479 (GRCh38)
1:154186955 (GRCh37)
Canonical SPDI:: NC_000001.11:154214478:T:C
Gene:: C1orf43 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.154214479T>C, NC_000001.10:g.154186955T>C, NM_015449.4:c.162A>G, NM_015449.3:c.162A>G, NM_015449.2:c.162A>G, NM_138740.4:c.162A>G, NM_138740.3:c.162A>G, NM_138740.2:c.162A>G, NM_001098616.3:c.264A>G, NM_001098616.2:c.264A>G, NM_001098616.1:c.264A>G, NM_001297720.2:c.264A>G, NM_001297720.1:c.264A>G, NM_001297723.2:c.264A>G, NM_001297723.1:c.264A>G, NM_001297718.2:c.159A>G, NM_001297718.1:c.159A>G, NM_001297717.2:c.264A>G, NM_001297717.1:c.264A>G, NM_001297721.2:c.162A>G, NM_001297721.1:c.162A>G

Select item 14862345623.

rs1486234562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154212527 (GRCh38)
1:154185003 (GRCh37)
Canonical SPDI:: NC_000001.11:154212526:G:A
Gene:: C1orf43 (Varview)
Functional Consequence:: synonymous_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_000001.11:g.154212527G>A, NC_000001.10:g.154185003G>A, NM_015449.4:c.336C>T, NM_015449.3:c.336C>T, NM_015449.2:c.336C>T, NM_138740.4:c.282C>T, NM_138740.3:c.282C>T, NM_138740.2:c.282C>T, NM_001098616.3:c.438C>T, NM_001098616.2:c.438C>T, NM_001098616.1:c.438C>T, NM_001297720.2:c.384C>T, NM_001297720.1:c.384C>T, NM_001297723.2:c.438C>T, NM_001297723.1:c.438C>T, NM_001297718.2:c.333C>T, NM_001297718.1:c.333C>T, NM_001297717.2:c.384C>T, NM_001297717.1:c.384C>T, NM_001297721.2:c.336C>T, NM_001297721.1:c.336C>T, XM_047417239.1:c.129C>T

Select item 14861192724.

rs1486119272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154212624 (GRCh38)
1:154185100 (GRCh37)
Canonical SPDI:: NC_000001.11:154212623:T:C
Gene:: C1orf43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154212624T>C, NC_000001.10:g.154185100T>C, NM_015449.4:c.239A>G, NM_015449.3:c.239A>G, NM_015449.2:c.239A>G, NM_138740.4:c.185A>G, NM_138740.3:c.185A>G, NM_138740.2:c.185A>G, NM_001098616.3:c.341A>G, NM_001098616.2:c.341A>G, NM_001098616.1:c.341A>G, NM_001297720.2:c.287A>G, NM_001297720.1:c.287A>G, NM_001297723.2:c.341A>G, NM_001297723.1:c.341A>G, NM_001297718.2:c.236A>G, NM_001297718.1:c.236A>G, NM_001297717.2:c.287A>G, NM_001297717.1:c.287A>G, NM_001297721.2:c.239A>G, NM_001297721.1:c.239A>G, XM_047417239.1:c.32A>G, NP_056264.1:p.Glu80Gly, NP_620077.1:p.Lys62Arg, NP_001092086.1:p.Glu114Gly, NP_001284649.1:p.Lys96Arg, NP_001284652.1:p.Glu114Gly, NP_001284647.1:p.Glu79Gly, NP_001284646.1:p.Lys96Arg, NP_001284650.1:p.Glu80Gly, XP_047273195.1:p.Glu11Gly

Select item 14794639955.

rs1479463995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:154214555 (GRCh38)
1:154187031 (GRCh37)
Canonical SPDI:: NC_000001.11:154214554:T:A
Gene:: C1orf43 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154214555T>A, NC_000001.10:g.154187031T>A, NM_015449.4:c.86A>T, NM_015449.3:c.86A>T, NM_015449.2:c.86A>T, NM_138740.4:c.86A>T, NM_138740.3:c.86A>T, NM_138740.2:c.86A>T, NM_001098616.3:c.188A>T, NM_001098616.2:c.188A>T, NM_001098616.1:c.188A>T, NM_001297720.2:c.188A>T, NM_001297720.1:c.188A>T, NM_001297723.2:c.188A>T, NM_001297723.1:c.188A>T, NM_001297718.2:c.83A>T, NM_001297718.1:c.83A>T, NM_001297717.2:c.188A>T, NM_001297717.1:c.188A>T, NM_001297721.2:c.86A>T, NM_001297721.1:c.86A>T, NP_056264.1:p.Asp29Val, NP_620077.1:p.Asp29Val, NP_001092086.1:p.Asp63Val, NP_001284649.1:p.Asp63Val, NP_001284652.1:p.Asp63Val, NP_001284647.1:p.Asp28Val, NP_001284646.1:p.Asp63Val, NP_001284650.1:p.Asp29Val

Select item 14617360506.

rs1461736050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:154212518 (GRCh38)
1:154184994 (GRCh37)
Canonical SPDI:: NC_000001.11:154212517:T:A,NC_000001.11:154212517:T:C
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154212518T>A, NC_000001.11:g.154212518T>C, NC_000001.10:g.154184994T>A, NC_000001.10:g.154184994T>C, NM_015449.4:c.345A>T, NM_015449.4:c.345A>G, NM_015449.3:c.345A>T, NM_015449.3:c.345A>G, NM_015449.2:c.345A>T, NM_015449.2:c.345A>G, NM_138740.4:c.291A>T, NM_138740.4:c.291A>G, NM_138740.3:c.291A>T, NM_138740.3:c.291A>G, NM_138740.2:c.291A>T, NM_138740.2:c.291A>G, NM_001098616.3:c.447A>T, NM_001098616.3:c.447A>G, NM_001098616.2:c.447A>T, NM_001098616.2:c.447A>G, NM_001098616.1:c.447A>T, NM_001098616.1:c.447A>G, NM_001297720.2:c.393A>T, NM_001297720.2:c.393A>G, NM_001297720.1:c.393A>T, NM_001297720.1:c.393A>G, NM_001297723.2:c.447A>T, NM_001297723.2:c.447A>G, NM_001297723.1:c.447A>T, NM_001297723.1:c.447A>G, NM_001297718.2:c.342A>T, NM_001297718.2:c.342A>G, NM_001297718.1:c.342A>T, NM_001297718.1:c.342A>G, NM_001297717.2:c.393A>T, NM_001297717.2:c.393A>G, NM_001297717.1:c.393A>T, NM_001297717.1:c.393A>G, NM_001297721.2:c.345A>T, NM_001297721.2:c.345A>G, NM_001297721.1:c.345A>T, NM_001297721.1:c.345A>G, XM_047417239.1:c.138A>T, XM_047417239.1:c.138A>G

Select item 14571590277.

rs1457159027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154214515 (GRCh38)
1:154186991 (GRCh37)
Canonical SPDI:: NC_000001.11:154214514:G:A
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.154214515G>A, NC_000001.10:g.154186991G>A, NM_015449.4:c.126C>T, NM_015449.3:c.126C>T, NM_015449.2:c.126C>T, NM_138740.4:c.126C>T, NM_138740.3:c.126C>T, NM_138740.2:c.126C>T, NM_001098616.3:c.228C>T, NM_001098616.2:c.228C>T, NM_001098616.1:c.228C>T, NM_001297720.2:c.228C>T, NM_001297720.1:c.228C>T, NM_001297723.2:c.228C>T, NM_001297723.1:c.228C>T, NM_001297718.2:c.123C>T, NM_001297718.1:c.123C>T, NM_001297717.2:c.228C>T, NM_001297717.1:c.228C>T, NM_001297721.2:c.126C>T, NM_001297721.1:c.126C>T

Select item 14530883718.

rs1453088371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:154219904 (GRCh38)
1:154192380 (GRCh37)
Canonical SPDI:: NC_000001.11:154219903:G:C
Gene:: UBAP2L (Varview), C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154219904G>C, NC_000001.10:g.154192380G>C, NM_001098616.3:c.100C>G, NM_001098616.2:c.100C>G, NM_001098616.1:c.100C>G, NM_001297720.2:c.100C>G, NM_001297720.1:c.100C>G, NM_001297723.2:c.100C>G, NM_001297723.1:c.100C>G, NM_001297718.2:c.-6C>G, NM_001297718.1:c.-6C>G, NM_001297717.2:c.100C>G, NM_001297717.1:c.100C>G, NP_001092086.1:p.Gln34Glu, NP_001284649.1:p.Gln34Glu, NP_001284652.1:p.Gln34Glu, NP_001284646.1:p.Gln34Glu

Select item 14457657789.

rs1445765778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:154212547 (GRCh38)
1:154185023 (GRCh37)
Canonical SPDI:: NC_000001.11:154212546:G:A,NC_000001.11:154212546:G:T
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.154212547G>A, NC_000001.11:g.154212547G>T, NC_000001.10:g.154185023G>A, NC_000001.10:g.154185023G>T, NM_015449.4:c.316C>T, NM_015449.4:c.316C>A, NM_015449.3:c.316C>T, NM_015449.3:c.316C>A, NM_015449.2:c.316C>T, NM_015449.2:c.316C>A, NM_138740.4:c.262C>T, NM_138740.4:c.262C>A, NM_138740.3:c.262C>T, NM_138740.3:c.262C>A, NM_138740.2:c.262C>T, NM_138740.2:c.262C>A, NM_001098616.3:c.418C>T, NM_001098616.3:c.418C>A, NM_001098616.2:c.418C>T, NM_001098616.2:c.418C>A, NM_001098616.1:c.418C>T, NM_001098616.1:c.418C>A, NM_001297720.2:c.364C>T, NM_001297720.2:c.364C>A, NM_001297720.1:c.364C>T, NM_001297720.1:c.364C>A, NM_001297723.2:c.418C>T, NM_001297723.2:c.418C>A, NM_001297723.1:c.418C>T, NM_001297723.1:c.418C>A, NM_001297718.2:c.313C>T, NM_001297718.2:c.313C>A, NM_001297718.1:c.313C>T, NM_001297718.1:c.313C>A, NM_001297717.2:c.364C>T, NM_001297717.2:c.364C>A, NM_001297717.1:c.364C>T, NM_001297717.1:c.364C>A, NM_001297721.2:c.316C>T, NM_001297721.2:c.316C>A, NM_001297721.1:c.316C>T, NM_001297721.1:c.316C>A, XM_047417239.1:c.109C>T, XM_047417239.1:c.109C>A, NP_056264.1:p.Arg106Ter, NP_620077.1:p.Arg88Ter, NP_001092086.1:p.Arg140Ter, NP_001284649.1:p.Arg122Ter, NP_001284652.1:p.Arg140Ter, NP_001284647.1:p.Arg105Ter, NP_001284646.1:p.Arg122Ter, NP_001284650.1:p.Arg106Ter, XP_047273195.1:p.Arg37Ter

Select item 144083659810.

rs1440836598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:154214559 (GRCh38)
1:154187035 (GRCh37)
Canonical SPDI:: NC_000001.11:154214558:T:A
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154214559T>A, NC_000001.10:g.154187035T>A, NM_015449.4:c.82A>T, NM_015449.3:c.82A>T, NM_015449.2:c.82A>T, NM_138740.4:c.82A>T, NM_138740.3:c.82A>T, NM_138740.2:c.82A>T, NM_001098616.3:c.184A>T, NM_001098616.2:c.184A>T, NM_001098616.1:c.184A>T, NM_001297720.2:c.184A>T, NM_001297720.1:c.184A>T, NM_001297723.2:c.184A>T, NM_001297723.1:c.184A>T, NM_001297718.2:c.79A>T, NM_001297718.1:c.79A>T, NM_001297717.2:c.184A>T, NM_001297717.1:c.184A>T, NM_001297721.2:c.82A>T, NM_001297721.1:c.82A>T, NP_056264.1:p.Ile28Phe, NP_620077.1:p.Ile28Phe, NP_001092086.1:p.Ile62Phe, NP_001284649.1:p.Ile62Phe, NP_001284652.1:p.Ile62Phe, NP_001284647.1:p.Ile27Phe, NP_001284646.1:p.Ile62Phe, NP_001284650.1:p.Ile28Phe

Select item 143281629511.

rs1432816295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154212529 (GRCh38)
1:154185005 (GRCh37)
Canonical SPDI:: NC_000001.11:154212528:A:G
Gene:: C1orf43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154212529A>G, NC_000001.10:g.154185005A>G, NM_015449.4:c.334T>C, NM_015449.3:c.334T>C, NM_015449.2:c.334T>C, NM_138740.4:c.280T>C, NM_138740.3:c.280T>C, NM_138740.2:c.280T>C, NM_001098616.3:c.436T>C, NM_001098616.2:c.436T>C, NM_001098616.1:c.436T>C, NM_001297720.2:c.382T>C, NM_001297720.1:c.382T>C, NM_001297723.2:c.436T>C, NM_001297723.1:c.436T>C, NM_001297718.2:c.331T>C, NM_001297718.1:c.331T>C, NM_001297717.2:c.382T>C, NM_001297717.1:c.382T>C, NM_001297721.2:c.334T>C, NM_001297721.1:c.334T>C, XM_047417239.1:c.127T>C, NP_056264.1:p.Phe112Leu, NP_620077.1:p.Phe94Leu, NP_001092086.1:p.Phe146Leu, NP_001284649.1:p.Phe128Leu, NP_001284652.1:p.Phe146Leu, NP_001284647.1:p.Phe111Leu, NP_001284646.1:p.Phe128Leu, NP_001284650.1:p.Phe112Leu, XP_047273195.1:p.Phe43Leu

Select item 141881961512.

rs1418819615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154214482 (GRCh38)
1:154186958 (GRCh37)
Canonical SPDI:: NC_000001.11:154214481:T:C
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154214482T>C, NC_000001.10:g.154186958T>C, NM_015449.4:c.159A>G, NM_015449.3:c.159A>G, NM_015449.2:c.159A>G, NM_138740.4:c.159A>G, NM_138740.3:c.159A>G, NM_138740.2:c.159A>G, NM_001098616.3:c.261A>G, NM_001098616.2:c.261A>G, NM_001098616.1:c.261A>G, NM_001297720.2:c.261A>G, NM_001297720.1:c.261A>G, NM_001297723.2:c.261A>G, NM_001297723.1:c.261A>G, NM_001297718.2:c.156A>G, NM_001297718.1:c.156A>G, NM_001297717.2:c.261A>G, NM_001297717.1:c.261A>G, NM_001297721.2:c.159A>G, NM_001297721.1:c.159A>G

Select item 141683361213.

rs1416833612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:154214512 (GRCh38)
1:154186988 (GRCh37)
Canonical SPDI:: NC_000001.11:154214511:C:A,NC_000001.11:154214511:C:G
Gene:: C1orf43 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.154214512C>A, NC_000001.11:g.154214512C>G, NC_000001.10:g.154186988C>A, NC_000001.10:g.154186988C>G, NM_015449.4:c.129G>T, NM_015449.4:c.129G>C, NM_015449.3:c.129G>T, NM_015449.3:c.129G>C, NM_015449.2:c.129G>T, NM_015449.2:c.129G>C, NM_138740.4:c.129G>T, NM_138740.4:c.129G>C, NM_138740.3:c.129G>T, NM_138740.3:c.129G>C, NM_138740.2:c.129G>T, NM_138740.2:c.129G>C, NM_001098616.3:c.231G>T, NM_001098616.3:c.231G>C, NM_001098616.2:c.231G>T, NM_001098616.2:c.231G>C, NM_001098616.1:c.231G>T, NM_001098616.1:c.231G>C, NM_001297720.2:c.231G>T, NM_001297720.2:c.231G>C, NM_001297720.1:c.231G>T, NM_001297720.1:c.231G>C, NM_001297723.2:c.231G>T, NM_001297723.2:c.231G>C, NM_001297723.1:c.231G>T, NM_001297723.1:c.231G>C, NM_001297718.2:c.126G>T, NM_001297718.2:c.126G>C, NM_001297718.1:c.126G>T, NM_001297718.1:c.126G>C, NM_001297717.2:c.231G>T, NM_001297717.2:c.231G>C, NM_001297717.1:c.231G>T, NM_001297717.1:c.231G>C, NM_001297721.2:c.129G>T, NM_001297721.2:c.129G>C, NM_001297721.1:c.129G>T, NM_001297721.1:c.129G>C, NP_056264.1:p.Gln43His, NP_056264.1:p.Gln43His, NP_620077.1:p.Gln43His, NP_620077.1:p.Gln43His, NP_001092086.1:p.Gln77His, NP_001092086.1:p.Gln77His, NP_001284649.1:p.Gln77His, NP_001284649.1:p.Gln77His, NP_001284652.1:p.Gln77His, NP_001284652.1:p.Gln77His, NP_001284647.1:p.Gln42His, NP_001284647.1:p.Gln42His, NP_001284646.1:p.Gln77His, NP_001284646.1:p.Gln77His, NP_001284650.1:p.Gln43His, NP_001284650.1:p.Gln43His

Select item 141232532314.

rs1412325323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154212584 (GRCh38)
1:154185060 (GRCh37)
Canonical SPDI:: NC_000001.11:154212583:T:C
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154212584T>C, NC_000001.10:g.154185060T>C, NM_015449.4:c.279A>G, NM_015449.3:c.279A>G, NM_015449.2:c.279A>G, NM_138740.4:c.225A>G, NM_138740.3:c.225A>G, NM_138740.2:c.225A>G, NM_001098616.3:c.381A>G, NM_001098616.2:c.381A>G, NM_001098616.1:c.381A>G, NM_001297720.2:c.327A>G, NM_001297720.1:c.327A>G, NM_001297723.2:c.381A>G, NM_001297723.1:c.381A>G, NM_001297718.2:c.276A>G, NM_001297718.1:c.276A>G, NM_001297717.2:c.327A>G, NM_001297717.1:c.327A>G, NM_001297721.2:c.279A>G, NM_001297721.1:c.279A>G, XM_047417239.1:c.72A>G

Select item 140882968115.

rs1408829681 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:154212460 (GRCh38)
1:154184936 (GRCh37)
Canonical SPDI:: NC_000001.11:154212459:CT:
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000001.11:g.154212460_154212461del, NC_000001.10:g.154184936_154184937del, NM_015449.4:c.402_403del, NM_015449.3:c.402_403del, NM_015449.2:c.402_403del, NM_138740.4:c.348_349del, NM_138740.3:c.348_349del, NM_138740.2:c.348_349del, NM_001098616.3:c.504_505del, NM_001098616.2:c.504_505del, NM_001098616.1:c.504_505del, NM_001297720.2:c.450_451del, NM_001297720.1:c.450_451del, NM_001297723.2:c.504_505del, NM_001297723.1:c.504_505del, NM_001297718.2:c.399_400del, NM_001297718.1:c.399_400del, NM_001297717.2:c.450_451del, NM_001297717.1:c.450_451del, NM_001297721.2:c.402_403del, NM_001297721.1:c.402_403del, XM_047417239.1:c.195_196del, NP_056264.1:p.Val136fs, NP_620077.1:p.Val118fs, NP_001092086.1:p.Val170fs, NP_001284649.1:p.Val152fs, NP_001284652.1:p.Val170fs, NP_001284647.1:p.Val135fs, NP_001284646.1:p.Gly152fs, NP_001284650.1:p.Val136fs, XP_047273195.1:p.Val67fs

Select item 140586405716.

rs1405864057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154219876 (GRCh38)
1:154192352 (GRCh37)
Canonical SPDI:: NC_000001.11:154219875:C:T
Gene:: UBAP2L (Varview), C1orf43 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154219876C>T, NC_000001.10:g.154192352C>T, NM_001098616.3:c.128G>A, NM_001098616.2:c.128G>A, NM_001098616.1:c.128G>A, NM_001297720.2:c.128G>A, NM_001297720.1:c.128G>A, NM_001297723.2:c.128G>A, NM_001297723.1:c.128G>A, NM_001297718.2:c.23G>A, NM_001297718.1:c.23G>A, NM_001297717.2:c.128G>A, NM_001297717.1:c.128G>A, NP_001092086.1:p.Arg43Gln, NP_001284649.1:p.Arg43Gln, NP_001284652.1:p.Arg43Gln, NP_001284647.1:p.Arg8Gln, NP_001284646.1:p.Arg43Gln

Select item 138940142417.

rs1389401424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:154214523 (GRCh38)
1:154186999 (GRCh37)
Canonical SPDI:: NC_000001.11:154214522:A:C
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154214523A>C, NC_000001.10:g.154186999A>C, NM_015449.4:c.118T>G, NM_015449.3:c.118T>G, NM_015449.2:c.118T>G, NM_138740.4:c.118T>G, NM_138740.3:c.118T>G, NM_138740.2:c.118T>G, NM_001098616.3:c.220T>G, NM_001098616.2:c.220T>G, NM_001098616.1:c.220T>G, NM_001297720.2:c.220T>G, NM_001297720.1:c.220T>G, NM_001297723.2:c.220T>G, NM_001297723.1:c.220T>G, NM_001297718.2:c.115T>G, NM_001297718.1:c.115T>G, NM_001297717.2:c.220T>G, NM_001297717.1:c.220T>G, NM_001297721.2:c.118T>G, NM_001297721.1:c.118T>G, NP_056264.1:p.Tyr40Asp, NP_620077.1:p.Tyr40Asp, NP_001092086.1:p.Tyr74Asp, NP_001284649.1:p.Tyr74Asp, NP_001284652.1:p.Tyr74Asp, NP_001284647.1:p.Tyr39Asp, NP_001284646.1:p.Tyr74Asp, NP_001284650.1:p.Tyr40Asp

Select item 137093776518.

rs1370937765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:154220368 (GRCh38)
1:154192844 (GRCh37)
Canonical SPDI:: NC_000001.11:154220367:C:A,NC_000001.11:154220367:C:G
Gene:: UBAP2L (Varview), C1orf43 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154220368C>A, NC_000001.11:g.154220368C>G, NC_000001.10:g.154192844C>A, NC_000001.10:g.154192844C>G, NM_015449.4:c.40G>T, NM_015449.4:c.40G>C, NM_015449.3:c.40G>T, NM_015449.3:c.40G>C, NM_015449.2:c.40G>T, NM_015449.2:c.40G>C, NM_138740.4:c.40G>T, NM_138740.4:c.40G>C, NM_138740.3:c.40G>T, NM_138740.3:c.40G>C, NM_138740.2:c.40G>T, NM_138740.2:c.40G>C, NM_001098616.3:c.40G>T, NM_001098616.3:c.40G>C, NM_001098616.2:c.40G>T, NM_001098616.2:c.40G>C, NM_001098616.1:c.40G>T, NM_001098616.1:c.40G>C, NM_001297720.2:c.40G>T, NM_001297720.2:c.40G>C, NM_001297720.1:c.40G>T, NM_001297720.1:c.40G>C, NM_001297723.2:c.40G>T, NM_001297723.2:c.40G>C, NM_001297723.1:c.40G>T, NM_001297723.1:c.40G>C, NM_001297717.2:c.40G>T, NM_001297717.2:c.40G>C, NM_001297717.1:c.40G>T, NM_001297717.1:c.40G>C, NM_001297721.2:c.40G>T, NM_001297721.2:c.40G>C, NM_001297721.1:c.40G>T, NM_001297721.1:c.40G>C, XM_047417239.1:c.-50G>T, XM_047417239.1:c.-50G>C, NP_056264.1:p.Val14Leu, NP_056264.1:p.Val14Leu, NP_620077.1:p.Val14Leu, NP_620077.1:p.Val14Leu, NP_001092086.1:p.Val14Leu, NP_001092086.1:p.Val14Leu, NP_001284649.1:p.Val14Leu, NP_001284649.1:p.Val14Leu, NP_001284652.1:p.Val14Leu, NP_001284652.1:p.Val14Leu, NP_001284646.1:p.Val14Leu, NP_001284646.1:p.Val14Leu, NP_001284650.1:p.Val14Leu, NP_001284650.1:p.Val14Leu

Select item 136616970219.

rs1366169702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154212464 (GRCh38)
1:154184940 (GRCh37)
Canonical SPDI:: NC_000001.11:154212463:C:T
Gene:: C1orf43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.154212464C>T, NC_000001.10:g.154184940C>T, NM_015449.4:c.399G>A, NM_015449.3:c.399G>A, NM_015449.2:c.399G>A, NM_138740.4:c.345G>A, NM_138740.3:c.345G>A, NM_138740.2:c.345G>A, NM_001098616.3:c.501G>A, NM_001098616.2:c.501G>A, NM_001098616.1:c.501G>A, NM_001297720.2:c.447G>A, NM_001297720.1:c.447G>A, NM_001297723.2:c.501G>A, NM_001297723.1:c.501G>A, NM_001297718.2:c.396G>A, NM_001297718.1:c.396G>A, NM_001297717.2:c.447G>A, NM_001297717.1:c.447G>A, NM_001297721.2:c.399G>A, NM_001297721.1:c.399G>A, XM_047417239.1:c.192G>A

Select item 136600348520.

rs1366003485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:154214496 (GRCh38)
1:154186972 (GRCh37)
Canonical SPDI:: NC_000001.11:154214495:C:A
Gene:: C1orf43 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154214496C>A, NC_000001.10:g.154186972C>A, NM_015449.4:c.145G>T, NM_015449.3:c.145G>T, NM_015449.2:c.145G>T, NM_138740.4:c.145G>T, NM_138740.3:c.145G>T, NM_138740.2:c.145G>T, NM_001098616.3:c.247G>T, NM_001098616.2:c.247G>T, NM_001098616.1:c.247G>T, NM_001297720.2:c.247G>T, NM_001297720.1:c.247G>T, NM_001297723.2:c.247G>T, NM_001297723.1:c.247G>T, NM_001297718.2:c.142G>T, NM_001297718.1:c.142G>T, NM_001297717.2:c.247G>T, NM_001297717.1:c.247G>T, NM_001297721.2:c.145G>T, NM_001297721.1:c.145G>T, NP_056264.1:p.Asp49Tyr, NP_620077.1:p.Asp49Tyr, NP_001092086.1:p.Asp83Tyr, NP_001284649.1:p.Asp83Tyr, NP_001284652.1:p.Asp83Tyr, NP_001284647.1:p.Asp48Tyr, NP_001284646.1:p.Asp83Tyr, NP_001284650.1:p.Asp49Tyr

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Result Filters

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Items: 1 to 20 of 155

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