SNP Links for Protein (Select 767909415) - SNP

Links from Protein

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Select item 14890197761.

rs1489019776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:164792705 (GRCh38)
1:164761942 (GRCh37)
Canonical SPDI:: NC_000001.11:164792704:A:C
Gene:: PBX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.164792705A>C, NC_000001.10:g.164761942A>C, NG_028246.2:g.238346A>C, NM_002585.4:c.477A>C, NM_002585.3:c.477A>C, NM_001204961.2:c.477A>C, NM_001204961.1:c.477A>C, NM_001204963.2:c.477A>C, NM_001204963.1:c.477A>C, NM_001353131.2:c.477A>C, NM_001353131.1:c.477A>C, NM_001353130.1:c.228A>C, XM_005245229.4:c.477A>C, XM_005245229.3:c.477A>C, XM_005245229.2:c.477A>C, XM_005245229.1:c.477A>C, XM_011509590.3:c.645A>C, XM_011509590.2:c.645A>C, XM_011509590.1:c.645A>C, XM_011509592.3:c.645A>C, XM_011509592.2:c.645A>C, XM_011509592.1:c.645A>C, XM_017001395.3:c.477A>C, XM_017001395.2:c.477A>C, XM_017001395.1:c.477A>C, XM_047421783.1:c.645A>C, XM_047421784.1:c.477A>C, NP_002576.1:p.Gln159His, NP_001191890.1:p.Gln159His, NP_001191892.1:p.Gln159His, NP_001340060.1:p.Gln159His, NP_001340059.1:p.Gln76His, XP_005245286.1:p.Gln159His, XP_011507892.1:p.Gln215His, XP_011507894.1:p.Gln215His, XP_016856884.1:p.Gln159His, XP_047277739.1:p.Gln215His, XP_047277740.1:p.Gln159His

Select item 14888662242.

rs1488866224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:164625962 (GRCh38)
1:164595199 (GRCh37)
Canonical SPDI:: NC_000001.11:164625961:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.164625962C>T, NC_000001.10:g.164595199C>T, NG_028246.2:g.71603C>T, XM_011509590.3:c.299C>T, XM_011509590.2:c.299C>T, XM_011509590.1:c.299C>T, XM_011509592.3:c.299C>T, XM_011509592.2:c.299C>T, XM_011509592.1:c.299C>T, XM_047421783.1:c.299C>T, XM_047421787.1:c.299C>T, XP_011507892.1:p.Ser100Leu, XP_011507894.1:p.Ser100Leu, XP_047277739.1:p.Ser100Leu, XP_047277743.1:p.Ser100Leu

Select item 14880361353.

rs1488036135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:164807602 (GRCh38)
1:164776839 (GRCh37)
Canonical SPDI:: NC_000001.11:164807601:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.164807602C>T, NC_000001.10:g.164776839C>T, NG_028246.2:g.253243C>T, NM_002585.4:c.762C>T, NM_002585.3:c.762C>T, NM_001204961.2:c.762C>T, NM_001204961.1:c.762C>T, NM_001204963.2:c.762C>T, NM_001204963.1:c.762C>T, NM_001353131.2:c.762C>T, NM_001353131.1:c.762C>T, NM_001353130.1:c.513C>T, XM_005245229.4:c.762C>T, XM_005245229.3:c.762C>T, XM_005245229.2:c.762C>T, XM_005245229.1:c.762C>T, XM_011509590.3:c.930C>T, XM_011509590.2:c.930C>T, XM_011509590.1:c.930C>T, XM_011509592.3:c.930C>T, XM_011509592.2:c.930C>T, XM_011509592.1:c.930C>T, XM_017001395.3:c.762C>T, XM_017001395.2:c.762C>T, XM_017001395.1:c.762C>T, XM_047421783.1:c.930C>T, XM_047421784.1:c.762C>T

Select item 14817664384.

rs1481766438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:164792506 (GRCh38)
1:164761743 (GRCh37)
Canonical SPDI:: NC_000001.11:164792505:G:T
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.164792506G>T, NC_000001.10:g.164761743G>T, NG_028246.2:g.238147G>T, NM_002585.4:c.278G>T, NM_002585.3:c.278G>T, NM_001204961.2:c.278G>T, NM_001204961.1:c.278G>T, NM_001204963.2:c.278G>T, NM_001204963.1:c.278G>T, NM_001353131.2:c.278G>T, NM_001353131.1:c.278G>T, NM_001353130.1:c.29G>T, XM_005245229.4:c.278G>T, XM_005245229.3:c.278G>T, XM_005245229.2:c.278G>T, XM_005245229.1:c.278G>T, XM_011509590.3:c.446G>T, XM_011509590.2:c.446G>T, XM_011509590.1:c.446G>T, XM_011509592.3:c.446G>T, XM_011509592.2:c.446G>T, XM_011509592.1:c.446G>T, XM_017001395.3:c.278G>T, XM_017001395.2:c.278G>T, XM_017001395.1:c.278G>T, XM_047421783.1:c.446G>T, XM_047421784.1:c.278G>T, NP_002576.1:p.Arg93Leu, NP_001191890.1:p.Arg93Leu, NP_001191892.1:p.Arg93Leu, NP_001340060.1:p.Arg93Leu, NP_001340059.1:p.Arg10Leu, XP_005245286.1:p.Arg93Leu, XP_011507892.1:p.Arg149Leu, XP_011507894.1:p.Arg149Leu, XP_016856884.1:p.Arg93Leu, XP_047277739.1:p.Arg149Leu, XP_047277740.1:p.Arg93Leu

Select item 14809512455.

rs1480951245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:164559905 (GRCh38)
1:164529142 (GRCh37)
Canonical SPDI:: NC_000001.11:164559904:A:T
Gene:: PBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.164559905A>T, NC_000001.10:g.164529142A>T, NG_028246.2:g.5546A>T, NM_002585.4:c.83A>T, NM_002585.3:c.83A>T, NM_001204961.2:c.83A>T, NM_001204961.1:c.83A>T, NM_001204963.2:c.83A>T, NM_001204963.1:c.83A>T, NM_001353131.2:c.83A>T, NM_001353131.1:c.83A>T, NM_001353130.1:c.-93A>T, XM_005245229.4:c.83A>T, XM_005245229.3:c.83A>T, XM_005245229.2:c.83A>T, XM_005245229.1:c.83A>T, XM_011509590.3:c.83A>T, XM_011509590.2:c.83A>T, XM_011509590.1:c.83A>T, XM_011509592.3:c.83A>T, XM_011509592.2:c.83A>T, XM_011509592.1:c.83A>T, XM_017001395.3:c.83A>T, XM_017001395.2:c.83A>T, XM_017001395.1:c.83A>T, XM_047421783.1:c.83A>T, XM_047421787.1:c.83A>T, XM_047421784.1:c.83A>T, NP_002576.1:p.Asp28Val, NP_001191890.1:p.Asp28Val, NP_001191892.1:p.Asp28Val, NP_001340060.1:p.Asp28Val, XP_005245286.1:p.Asp28Val, XP_011507892.1:p.Asp28Val, XP_011507894.1:p.Asp28Val, XP_016856884.1:p.Asp28Val, XP_047277739.1:p.Asp28Val, XP_047277743.1:p.Asp28Val, XP_047277740.1:p.Asp28Val

Select item 14801179866.

rs1480117986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:164559882 (GRCh38)
1:164529119 (GRCh37)
Canonical SPDI:: NC_000001.11:164559881:C:A
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.164559882C>A, NC_000001.10:g.164529119C>A, NG_028246.2:g.5523C>A, NM_002585.4:c.60C>A, NM_002585.3:c.60C>A, NM_001204961.2:c.60C>A, NM_001204961.1:c.60C>A, NM_001204963.2:c.60C>A, NM_001204963.1:c.60C>A, NM_001353131.2:c.60C>A, NM_001353131.1:c.60C>A, NM_001353130.1:c.-116C>A, XM_005245229.4:c.60C>A, XM_005245229.3:c.60C>A, XM_005245229.2:c.60C>A, XM_005245229.1:c.60C>A, XM_011509590.3:c.60C>A, XM_011509590.2:c.60C>A, XM_011509590.1:c.60C>A, XM_011509592.3:c.60C>A, XM_011509592.2:c.60C>A, XM_011509592.1:c.60C>A, XM_017001395.3:c.60C>A, XM_017001395.2:c.60C>A, XM_017001395.1:c.60C>A, XM_047421783.1:c.60C>A, XM_047421787.1:c.60C>A, XM_047421784.1:c.60C>A

Select item 14774356987.

rs1477435698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:164812092 (GRCh38)
1:164781329 (GRCh37)
Canonical SPDI:: NC_000001.11:164812091:A:G
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.164812092A>G, NC_000001.10:g.164781329A>G, NG_028246.2:g.257733A>G, NM_002585.4:c.940A>G, NM_002585.3:c.940A>G, NM_001204961.2:c.940A>G, NM_001204961.1:c.940A>G, NM_001204963.2:c.940A>G, NM_001204963.1:c.940A>G, NM_001353131.2:c.940A>G, NM_001353131.1:c.940A>G, NM_001353130.1:c.691A>G, XM_005245229.4:c.940A>G, XM_005245229.3:c.940A>G, XM_005245229.2:c.940A>G, XM_005245229.1:c.940A>G, XM_011509590.3:c.1108A>G, XM_011509590.2:c.1108A>G, XM_011509590.1:c.1108A>G, XM_011509592.3:c.1108A>G, XM_011509592.2:c.1108A>G, XM_011509592.1:c.1108A>G, XM_017001395.3:c.940A>G, XM_017001395.2:c.940A>G, XM_017001395.1:c.940A>G, XM_047421783.1:c.1108A>G, XM_047421784.1:c.940A>G, NP_002576.1:p.Thr314Ala, NP_001191890.1:p.Thr314Ala, NP_001191892.1:p.Thr314Ala, NP_001340060.1:p.Thr314Ala, NP_001340059.1:p.Thr231Ala, XP_005245286.1:p.Thr314Ala, XP_011507892.1:p.Thr370Ala, XP_011507894.1:p.Thr370Ala, XP_016856884.1:p.Thr314Ala, XP_047277739.1:p.Thr370Ala, XP_047277740.1:p.Thr314Ala

Select item 14713565778.

rs1471356577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:164792678 (GRCh38)
1:164761915 (GRCh37)
Canonical SPDI:: NC_000001.11:164792677:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.164792678C>T, NC_000001.10:g.164761915C>T, NG_028246.2:g.238319C>T, NM_002585.4:c.450C>T, NM_002585.3:c.450C>T, NM_001204961.2:c.450C>T, NM_001204961.1:c.450C>T, NM_001204963.2:c.450C>T, NM_001204963.1:c.450C>T, NM_001353131.2:c.450C>T, NM_001353131.1:c.450C>T, NM_001353130.1:c.201C>T, XM_005245229.4:c.450C>T, XM_005245229.3:c.450C>T, XM_005245229.2:c.450C>T, XM_005245229.1:c.450C>T, XM_011509590.3:c.618C>T, XM_011509590.2:c.618C>T, XM_011509590.1:c.618C>T, XM_011509592.3:c.618C>T, XM_011509592.2:c.618C>T, XM_011509592.1:c.618C>T, XM_017001395.3:c.450C>T, XM_017001395.2:c.450C>T, XM_017001395.1:c.450C>T, XM_047421783.1:c.618C>T, XM_047421784.1:c.450C>T

Select item 14669476519.

rs1466947651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:164792533 (GRCh38)
1:164761770 (GRCh37)
Canonical SPDI:: NC_000001.11:164792532:A:C
Gene:: PBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.164792533A>C, NC_000001.10:g.164761770A>C, NG_028246.2:g.238174A>C, NM_002585.4:c.305A>C, NM_002585.3:c.305A>C, NM_001204961.2:c.305A>C, NM_001204961.1:c.305A>C, NM_001204963.2:c.305A>C, NM_001204963.1:c.305A>C, NM_001353131.2:c.305A>C, NM_001353131.1:c.305A>C, NM_001353130.1:c.56A>C, XM_005245229.4:c.305A>C, XM_005245229.3:c.305A>C, XM_005245229.2:c.305A>C, XM_005245229.1:c.305A>C, XM_011509590.3:c.473A>C, XM_011509590.2:c.473A>C, XM_011509590.1:c.473A>C, XM_011509592.3:c.473A>C, XM_011509592.2:c.473A>C, XM_011509592.1:c.473A>C, XM_017001395.3:c.305A>C, XM_017001395.2:c.305A>C, XM_017001395.1:c.305A>C, XM_047421783.1:c.473A>C, XM_047421784.1:c.305A>C, NP_002576.1:p.Asp102Ala, NP_001191890.1:p.Asp102Ala, NP_001191892.1:p.Asp102Ala, NP_001340060.1:p.Asp102Ala, NP_001340059.1:p.Asp19Ala, XP_005245286.1:p.Asp102Ala, XP_011507892.1:p.Asp158Ala, XP_011507894.1:p.Asp158Ala, XP_016856884.1:p.Asp102Ala, XP_047277739.1:p.Asp158Ala, XP_047277740.1:p.Asp102Ala

Select item 146619698510.

rs1466196985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:164625978 (GRCh38)
1:164595215 (GRCh37)
Canonical SPDI:: NC_000001.11:164625977:G:A
Gene:: PBX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.164625978G>A, NC_000001.10:g.164595215G>A, NG_028246.2:g.71619G>A, XM_011509590.3:c.315G>A, XM_011509590.2:c.315G>A, XM_011509590.1:c.315G>A, XM_011509592.3:c.315G>A, XM_011509592.2:c.315G>A, XM_011509592.1:c.315G>A, XM_047421783.1:c.315G>A, XM_047421787.1:c.315G>A

Select item 146538261611.

rs1465382616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:164799806 (GRCh38)
1:164769043 (GRCh37)
Canonical SPDI:: NC_000001.11:164799805:C:G
Gene:: PBX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.164799806C>G, NC_000001.10:g.164769043C>G, NG_028246.2:g.245447C>G, NM_002585.4:c.618C>G, NM_002585.3:c.618C>G, NM_001204961.2:c.618C>G, NM_001204961.1:c.618C>G, NM_001204963.2:c.618C>G, NM_001204963.1:c.618C>G, NM_001353131.2:c.618C>G, NM_001353131.1:c.618C>G, NM_001353130.1:c.369C>G, XM_005245229.4:c.618C>G, XM_005245229.3:c.618C>G, XM_005245229.2:c.618C>G, XM_005245229.1:c.618C>G, XM_011509590.3:c.786C>G, XM_011509590.2:c.786C>G, XM_011509590.1:c.786C>G, XM_011509592.3:c.786C>G, XM_011509592.2:c.786C>G, XM_011509592.1:c.786C>G, XM_017001395.3:c.618C>G, XM_017001395.2:c.618C>G, XM_017001395.1:c.618C>G, XM_047421783.1:c.786C>G, XM_047421784.1:c.618C>G

Select item 146167386112.

rs1461673861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:164559926 (GRCh38)
1:164529163 (GRCh37)
Canonical SPDI:: NC_000001.11:164559925:G:A,NC_000001.11:164559925:G:C
Gene:: PBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.164559926G>A, NC_000001.11:g.164559926G>C, NC_000001.10:g.164529163G>A, NC_000001.10:g.164529163G>C, NG_028246.2:g.5567G>A, NG_028246.2:g.5567G>C, NM_002585.4:c.104G>A, NM_002585.4:c.104G>C, NM_002585.3:c.104G>A, NM_002585.3:c.104G>C, NM_001204961.2:c.104G>A, NM_001204961.2:c.104G>C, NM_001204961.1:c.104G>A, NM_001204961.1:c.104G>C, NM_001204963.2:c.104G>A, NM_001204963.2:c.104G>C, NM_001204963.1:c.104G>A, NM_001204963.1:c.104G>C, NM_001353131.2:c.104G>A, NM_001353131.2:c.104G>C, NM_001353131.1:c.104G>A, NM_001353131.1:c.104G>C, NM_001353130.1:c.-72G>A, NM_001353130.1:c.-72G>C, XM_005245229.4:c.104G>A, XM_005245229.4:c.104G>C, XM_005245229.3:c.104G>A, XM_005245229.3:c.104G>C, XM_005245229.2:c.104G>A, XM_005245229.2:c.104G>C, XM_005245229.1:c.104G>A, XM_005245229.1:c.104G>C, XM_011509590.3:c.104G>A, XM_011509590.3:c.104G>C, XM_011509590.2:c.104G>A, XM_011509590.2:c.104G>C, XM_011509590.1:c.104G>A, XM_011509590.1:c.104G>C, XM_011509592.3:c.104G>A, XM_011509592.3:c.104G>C, XM_011509592.2:c.104G>A, XM_011509592.2:c.104G>C, XM_011509592.1:c.104G>A, XM_011509592.1:c.104G>C, XM_017001395.3:c.104G>A, XM_017001395.3:c.104G>C, XM_017001395.2:c.104G>A, XM_017001395.2:c.104G>C, XM_017001395.1:c.104G>A, XM_017001395.1:c.104G>C, XM_047421783.1:c.104G>A, XM_047421783.1:c.104G>C, XM_047421787.1:c.104G>A, XM_047421787.1:c.104G>C, XM_047421784.1:c.104G>A, XM_047421784.1:c.104G>C, NP_002576.1:p.Gly35Glu, NP_002576.1:p.Gly35Ala, NP_001191890.1:p.Gly35Glu, NP_001191890.1:p.Gly35Ala, NP_001191892.1:p.Gly35Glu, NP_001191892.1:p.Gly35Ala, NP_001340060.1:p.Gly35Glu, NP_001340060.1:p.Gly35Ala, XP_005245286.1:p.Gly35Glu, XP_005245286.1:p.Gly35Ala, XP_011507892.1:p.Gly35Glu, XP_011507892.1:p.Gly35Ala, XP_011507894.1:p.Gly35Glu, XP_011507894.1:p.Gly35Ala, XP_016856884.1:p.Gly35Glu, XP_016856884.1:p.Gly35Ala, XP_047277739.1:p.Gly35Glu, XP_047277739.1:p.Gly35Ala, XP_047277743.1:p.Gly35Glu, XP_047277743.1:p.Gly35Ala, XP_047277740.1:p.Gly35Glu, XP_047277740.1:p.Gly35Ala

Select item 145954596613.

rs1459545966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:164626019 (GRCh38)
1:164595256 (GRCh37)
Canonical SPDI:: NC_000001.11:164626018:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.164626019C>T, NC_000001.10:g.164595256C>T, NG_028246.2:g.71660C>T, XM_011509590.3:c.356C>T, XM_011509590.2:c.356C>T, XM_011509590.1:c.356C>T, XM_011509592.3:c.356C>T, XM_011509592.2:c.356C>T, XM_011509592.1:c.356C>T, XM_047421783.1:c.356C>T, XM_047421787.1:c.356C>T, XP_011507892.1:p.Ser119Phe, XP_011507894.1:p.Ser119Phe, XP_047277739.1:p.Ser119Phe, XP_047277743.1:p.Ser119Phe

Select item 145861346914.

rs1458613469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:164812071 (GRCh38)
1:164781308 (GRCh37)
Canonical SPDI:: NC_000001.11:164812070:G:A
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.164812071G>A, NC_000001.10:g.164781308G>A, NG_028246.2:g.257712G>A, NM_002585.4:c.919G>A, NM_002585.3:c.919G>A, NM_001204961.2:c.919G>A, NM_001204961.1:c.919G>A, NM_001204963.2:c.919G>A, NM_001204963.1:c.919G>A, NM_001353131.2:c.919G>A, NM_001353131.1:c.919G>A, NM_001353130.1:c.670G>A, XM_005245229.4:c.919G>A, XM_005245229.3:c.919G>A, XM_005245229.2:c.919G>A, XM_005245229.1:c.919G>A, XM_011509590.3:c.1087G>A, XM_011509590.2:c.1087G>A, XM_011509590.1:c.1087G>A, XM_011509592.3:c.1087G>A, XM_011509592.2:c.1087G>A, XM_011509592.1:c.1087G>A, XM_017001395.3:c.919G>A, XM_017001395.2:c.919G>A, XM_017001395.1:c.919G>A, XM_047421783.1:c.1087G>A, XM_047421784.1:c.919G>A, NP_002576.1:p.Ala307Thr, NP_001191890.1:p.Ala307Thr, NP_001191892.1:p.Ala307Thr, NP_001340060.1:p.Ala307Thr, NP_001340059.1:p.Ala224Thr, XP_005245286.1:p.Ala307Thr, XP_011507892.1:p.Ala363Thr, XP_011507894.1:p.Ala363Thr, XP_016856884.1:p.Ala307Thr, XP_047277739.1:p.Ala363Thr, XP_047277740.1:p.Ala307Thr

Select item 145826793415.

rs1458267934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:164792626 (GRCh38)
1:164761863 (GRCh37)
Canonical SPDI:: NC_000001.11:164792625:C:A,NC_000001.11:164792625:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.164792626C>A, NC_000001.11:g.164792626C>T, NC_000001.10:g.164761863C>A, NC_000001.10:g.164761863C>T, NG_028246.2:g.238267C>A, NG_028246.2:g.238267C>T, NM_002585.4:c.398C>A, NM_002585.4:c.398C>T, NM_002585.3:c.398C>A, NM_002585.3:c.398C>T, NM_001204961.2:c.398C>A, NM_001204961.2:c.398C>T, NM_001204961.1:c.398C>A, NM_001204961.1:c.398C>T, NM_001204963.2:c.398C>A, NM_001204963.2:c.398C>T, NM_001204963.1:c.398C>A, NM_001204963.1:c.398C>T, NM_001353131.2:c.398C>A, NM_001353131.2:c.398C>T, NM_001353131.1:c.398C>A, NM_001353131.1:c.398C>T, NM_001353130.1:c.149C>A, NM_001353130.1:c.149C>T, XM_005245229.4:c.398C>A, XM_005245229.4:c.398C>T, XM_005245229.3:c.398C>A, XM_005245229.3:c.398C>T, XM_005245229.2:c.398C>A, XM_005245229.2:c.398C>T, XM_005245229.1:c.398C>A, XM_005245229.1:c.398C>T, XM_011509590.3:c.566C>A, XM_011509590.3:c.566C>T, XM_011509590.2:c.566C>A, XM_011509590.2:c.566C>T, XM_011509590.1:c.566C>A, XM_011509590.1:c.566C>T, XM_011509592.3:c.566C>A, XM_011509592.3:c.566C>T, XM_011509592.2:c.566C>A, XM_011509592.2:c.566C>T, XM_011509592.1:c.566C>A, XM_011509592.1:c.566C>T, XM_017001395.3:c.398C>A, XM_017001395.3:c.398C>T, XM_017001395.2:c.398C>A, XM_017001395.2:c.398C>T, XM_017001395.1:c.398C>A, XM_017001395.1:c.398C>T, XM_047421783.1:c.566C>A, XM_047421783.1:c.566C>T, XM_047421784.1:c.398C>A, XM_047421784.1:c.398C>T, NP_002576.1:p.Ala133Glu, NP_002576.1:p.Ala133Val, NP_001191890.1:p.Ala133Glu, NP_001191890.1:p.Ala133Val, NP_001191892.1:p.Ala133Glu, NP_001191892.1:p.Ala133Val, NP_001340060.1:p.Ala133Glu, NP_001340060.1:p.Ala133Val, NP_001340059.1:p.Ala50Glu, NP_001340059.1:p.Ala50Val, XP_005245286.1:p.Ala133Glu, XP_005245286.1:p.Ala133Val, XP_011507892.1:p.Ala189Glu, XP_011507892.1:p.Ala189Val, XP_011507894.1:p.Ala189Glu, XP_011507894.1:p.Ala189Val, XP_016856884.1:p.Ala133Glu, XP_016856884.1:p.Ala133Val, XP_047277739.1:p.Ala189Glu, XP_047277739.1:p.Ala189Val, XP_047277740.1:p.Ala133Glu, XP_047277740.1:p.Ala133Val

Select item 145459119316.

rs1454591193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:164792641 (GRCh38)
1:164761878 (GRCh37)
Canonical SPDI:: NC_000001.11:164792640:G:C
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.164792641G>C, NC_000001.10:g.164761878G>C, NG_028246.2:g.238282G>C, NM_002585.4:c.413G>C, NM_002585.3:c.413G>C, NM_001204961.2:c.413G>C, NM_001204961.1:c.413G>C, NM_001204963.2:c.413G>C, NM_001204963.1:c.413G>C, NM_001353131.2:c.413G>C, NM_001353131.1:c.413G>C, NM_001353130.1:c.164G>C, XM_005245229.4:c.413G>C, XM_005245229.3:c.413G>C, XM_005245229.2:c.413G>C, XM_005245229.1:c.413G>C, XM_011509590.3:c.581G>C, XM_011509590.2:c.581G>C, XM_011509590.1:c.581G>C, XM_011509592.3:c.581G>C, XM_011509592.2:c.581G>C, XM_011509592.1:c.581G>C, XM_017001395.3:c.413G>C, XM_017001395.2:c.413G>C, XM_017001395.1:c.413G>C, XM_047421783.1:c.581G>C, XM_047421784.1:c.413G>C, NP_002576.1:p.Gly138Ala, NP_001191890.1:p.Gly138Ala, NP_001191892.1:p.Gly138Ala, NP_001340060.1:p.Gly138Ala, NP_001340059.1:p.Gly55Ala, XP_005245286.1:p.Gly138Ala, XP_011507892.1:p.Gly194Ala, XP_011507894.1:p.Gly194Ala, XP_016856884.1:p.Gly138Ala, XP_047277739.1:p.Gly194Ala, XP_047277740.1:p.Gly138Ala

Select item 145077724717.

rs1450777247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:164559912 (GRCh38)
1:164529149 (GRCh37)
Canonical SPDI:: NC_000001.11:164559911:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
HGVS:: NC_000001.11:g.164559912C>T, NC_000001.10:g.164529149C>T, NG_028246.2:g.5553C>T, NM_002585.4:c.90C>T, NM_002585.3:c.90C>T, NM_001204961.2:c.90C>T, NM_001204961.1:c.90C>T, NM_001204963.2:c.90C>T, NM_001204963.1:c.90C>T, NM_001353131.2:c.90C>T, NM_001353131.1:c.90C>T, NM_001353130.1:c.-86C>T, XM_005245229.4:c.90C>T, XM_005245229.3:c.90C>T, XM_005245229.2:c.90C>T, XM_005245229.1:c.90C>T, XM_011509590.3:c.90C>T, XM_011509590.2:c.90C>T, XM_011509590.1:c.90C>T, XM_011509592.3:c.90C>T, XM_011509592.2:c.90C>T, XM_011509592.1:c.90C>T, XM_017001395.3:c.90C>T, XM_017001395.2:c.90C>T, XM_017001395.1:c.90C>T, XM_047421783.1:c.90C>T, XM_047421787.1:c.90C>T, XM_047421784.1:c.90C>T

Select item 143827960918.

rs1438279609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:164626091 (GRCh38)
1:164595328 (GRCh37)
Canonical SPDI:: NC_000001.11:164626090:G:A
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.164626091G>A, NC_000001.10:g.164595328G>A, NG_028246.2:g.71732G>A, XM_011509590.3:c.428G>A, XM_011509590.2:c.428G>A, XM_011509590.1:c.428G>A, XM_011509592.3:c.428G>A, XM_011509592.2:c.428G>A, XM_011509592.1:c.428G>A, XM_047421783.1:c.428G>A, XM_047421787.1:c.428G>A, XP_011507892.1:p.Gly143Asp, XP_011507894.1:p.Gly143Asp, XP_047277739.1:p.Gly143Asp, XP_047277743.1:p.Gly143Asp

Select item 143666426619.

rs1436664266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:164559886 (GRCh38)
1:164529123 (GRCh37)
Canonical SPDI:: NC_000001.11:164559885:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.164559886C>T, NC_000001.10:g.164529123C>T, NG_028246.2:g.5527C>T, NM_002585.4:c.64C>T, NM_002585.3:c.64C>T, NM_001204961.2:c.64C>T, NM_001204961.1:c.64C>T, NM_001204963.2:c.64C>T, NM_001204963.1:c.64C>T, NM_001353131.2:c.64C>T, NM_001353131.1:c.64C>T, NM_001353130.1:c.-112C>T, XM_005245229.4:c.64C>T, XM_005245229.3:c.64C>T, XM_005245229.2:c.64C>T, XM_005245229.1:c.64C>T, XM_011509590.3:c.64C>T, XM_011509590.2:c.64C>T, XM_011509590.1:c.64C>T, XM_011509592.3:c.64C>T, XM_011509592.2:c.64C>T, XM_011509592.1:c.64C>T, XM_017001395.3:c.64C>T, XM_017001395.2:c.64C>T, XM_017001395.1:c.64C>T, XM_047421783.1:c.64C>T, XM_047421787.1:c.64C>T, XM_047421784.1:c.64C>T

Select item 143546962020.

rs1435469620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:164559853 (GRCh38)
1:164529090 (GRCh37)
Canonical SPDI:: NC_000001.11:164559852:C:T
Gene:: PBX1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000001.11:g.164559853C>T, NC_000001.10:g.164529090C>T, NG_028246.2:g.5494C>T, NM_002585.4:c.31C>T, NM_002585.3:c.31C>T, NM_001204961.2:c.31C>T, NM_001204961.1:c.31C>T, NM_001204963.2:c.31C>T, NM_001204963.1:c.31C>T, NM_001353131.2:c.31C>T, NM_001353131.1:c.31C>T, NM_001353130.1:c.-145C>T, XM_005245229.4:c.31C>T, XM_005245229.3:c.31C>T, XM_005245229.2:c.31C>T, XM_005245229.1:c.31C>T, XM_011509590.3:c.31C>T, XM_011509590.2:c.31C>T, XM_011509590.1:c.31C>T, XM_011509592.3:c.31C>T, XM_011509592.2:c.31C>T, XM_011509592.1:c.31C>T, XM_017001395.3:c.31C>T, XM_017001395.2:c.31C>T, XM_017001395.1:c.31C>T, XM_047421783.1:c.31C>T, XM_047421787.1:c.31C>T, XM_047421784.1:c.31C>T, NP_002576.1:p.His11Tyr, NP_001191890.1:p.His11Tyr, NP_001191892.1:p.His11Tyr, NP_001340060.1:p.His11Tyr, XP_005245286.1:p.His11Tyr, XP_011507892.1:p.His11Tyr, XP_011507894.1:p.His11Tyr, XP_016856884.1:p.His11Tyr, XP_047277739.1:p.His11Tyr, XP_047277743.1:p.His11Tyr, XP_047277740.1:p.His11Tyr

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