SNP Links for Protein (Select 1034574900) - SNP

Select item 14773782271.

rs1477378227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:128937779 (GRCh38)
11:128807674 (GRCh37)
Canonical SPDI:: NC_000011.10:128937778:C:G
Gene:: TP53AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.128937779C>G, NC_000011.9:g.128807674C>G, NG_030401.1:g.10621G>C, NM_022112.2:c.40G>C, NM_022112.3:c.40G>C, NM_001251964.1:c.40G>C, NM_001251964.2:c.40G>C, NM_001195195.1:c.40G>C, NM_001195195.2:c.40G>C, NM_001195194.1:c.40G>C, XM_017018115.3:c.106G>C, XM_017018115.2:c.106G>C, XM_017018115.1:c.106G>C, XM_017018116.2:c.40G>C, XM_017018116.1:c.40G>C, XM_017018113.2:c.106G>C, XM_017018113.1:c.106G>C, XM_017018114.2:c.106G>C, XM_017018114.1:c.106G>C, XM_017018117.2:c.106G>C, XM_017018117.1:c.106G>C, XM_047427398.1:c.106G>C, NP_071395.2:p.Ala14Pro, NP_001238893.1:p.Ala14Pro, NP_001182124.1:p.Ala14Pro, NP_001182123.1:p.Ala14Pro, XP_016873604.1:p.Ala36Pro, XP_016873605.1:p.Ala14Pro, XP_016873602.1:p.Ala36Pro, XP_016873603.1:p.Ala36Pro, XP_016873606.1:p.Ala36Pro, XP_047283354.1:p.Ala36Pro

Select item 14663498482.

rs1466349848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:128937717 (GRCh38)
11:128807612 (GRCh37)
Canonical SPDI:: NC_000011.10:128937716:C:T
Gene:: TP53AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.128937717C>T, NC_000011.9:g.128807612C>T, NG_030401.1:g.10683G>A, NM_022112.2:c.102G>A, NM_022112.3:c.102G>A, NM_001251964.1:c.102G>A, NM_001251964.2:c.102G>A, NM_001195195.1:c.102G>A, NM_001195195.2:c.102G>A, NM_001195194.1:c.102G>A, XM_017018115.3:c.168G>A, XM_017018115.2:c.168G>A, XM_017018115.1:c.168G>A, XM_017018116.2:c.102G>A, XM_017018116.1:c.102G>A, XM_017018113.2:c.168G>A, XM_017018113.1:c.168G>A, XM_017018114.2:c.168G>A, XM_017018114.1:c.168G>A, XM_017018117.2:c.168G>A, XM_017018117.1:c.168G>A, XM_047427398.1:c.168G>A, NP_071395.2:p.Met34Ile, NP_001238893.1:p.Met34Ile, NP_001182124.1:p.Met34Ile, NP_001182123.1:p.Met34Ile, XP_016873604.1:p.Met56Ile, XP_016873605.1:p.Met34Ile, XP_016873602.1:p.Met56Ile, XP_016873603.1:p.Met56Ile, XP_016873606.1:p.Met56Ile, XP_047283354.1:p.Met56Ile

Select item 14602600923.

rs1460260092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:128942836 (GRCh38)
11:128812731 (GRCh37)
Canonical SPDI:: NC_000011.10:128942835:C:T
Gene:: TP53AIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.128942836C>T, NC_000011.9:g.128812731C>T, NG_030401.1:g.5564G>A, NM_022112.2:c.-119G>A, NM_022112.3:c.-119G>A, NM_001251964.1:c.-119G>A, NM_001251964.2:c.-119G>A, NM_001195195.1:c.-119G>A, NM_001195195.2:c.-119G>A, XM_017018115.3:c.8G>A, XM_017018115.2:c.8G>A, XM_017018115.1:c.8G>A, XM_017018116.2:c.-4722G>A, XM_017018113.2:c.8G>A, XM_017018113.1:c.8G>A, XM_017018114.2:c.8G>A, XM_017018114.1:c.8G>A, XM_017018117.2:c.8G>A, XM_017018117.1:c.8G>A, XM_047427398.1:c.8G>A, XP_016873604.1:p.Arg3Lys, XP_016873602.1:p.Arg3Lys, XP_016873603.1:p.Arg3Lys, XP_016873606.1:p.Arg3Lys, XP_047283354.1:p.Arg3Lys

Select item 14575215224.

rs1457521522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:128937684 (GRCh38)
11:128807579 (GRCh37)
Canonical SPDI:: NC_000011.10:128937683:A:C,NC_000011.10:128937683:A:G
Gene:: TP53AIP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.128937684A>C, NC_000011.10:g.128937684A>G, NC_000011.9:g.128807579A>C, NC_000011.9:g.128807579A>G, NG_030401.1:g.10716T>G, NG_030401.1:g.10716T>C, NM_022112.2:c.135T>G, NM_022112.2:c.135T>C, NM_022112.3:c.135T>G, NM_022112.3:c.135T>C, NM_001251964.1:c.135T>G, NM_001251964.1:c.135T>C, NM_001251964.2:c.135T>G, NM_001251964.2:c.135T>C, NM_001195195.1:c.135T>G, NM_001195195.1:c.135T>C, NM_001195195.2:c.135T>G, NM_001195195.2:c.135T>C, NM_001195194.1:c.135T>G, NM_001195194.1:c.135T>C, XM_017018115.3:c.201T>G, XM_017018115.3:c.201T>C, XM_017018115.2:c.201T>G, XM_017018115.2:c.201T>C, XM_017018115.1:c.201T>G, XM_017018115.1:c.201T>C, XM_017018116.2:c.135T>G, XM_017018116.2:c.135T>C, XM_017018116.1:c.135T>G, XM_017018116.1:c.135T>C, XM_017018113.2:c.201T>G, XM_017018113.2:c.201T>C, XM_017018113.1:c.201T>G, XM_017018113.1:c.201T>C, XM_017018114.2:c.201T>G, XM_017018114.2:c.201T>C, XM_017018114.1:c.201T>G, XM_017018114.1:c.201T>C, XM_017018117.2:c.201T>G, XM_017018117.2:c.201T>C, XM_017018117.1:c.201T>G, XM_017018117.1:c.201T>C, XM_047427398.1:c.201T>G, XM_047427398.1:c.201T>C

Select item 14559196635.

rs1455919663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:128937784 (GRCh38)
11:128807679 (GRCh37)
Canonical SPDI:: NC_000011.10:128937783:G:A
Gene:: TP53AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.128937784G>A, NC_000011.9:g.128807679G>A, NG_030401.1:g.10616C>T, NM_022112.2:c.35C>T, NM_022112.3:c.35C>T, NM_001251964.1:c.35C>T, NM_001251964.2:c.35C>T, NM_001195195.1:c.35C>T, NM_001195195.2:c.35C>T, NM_001195194.1:c.35C>T, XM_017018115.3:c.101C>T, XM_017018115.2:c.101C>T, XM_017018115.1:c.101C>T, XM_017018116.2:c.35C>T, XM_017018116.1:c.35C>T, XM_017018113.2:c.101C>T, XM_017018113.1:c.101C>T, XM_017018114.2:c.101C>T, XM_017018114.1:c.101C>T, XM_017018117.2:c.101C>T, XM_017018117.1:c.101C>T, XM_047427398.1:c.101C>T, NP_071395.2:p.Ala12Val, NP_001238893.1:p.Ala12Val, NP_001182124.1:p.Ala12Val, NP_001182123.1:p.Ala12Val, XP_016873604.1:p.Ala34Val, XP_016873605.1:p.Ala12Val, XP_016873602.1:p.Ala34Val, XP_016873603.1:p.Ala34Val, XP_016873606.1:p.Ala34Val, XP_047283354.1:p.Ala34Val

Select item 14544458736.

rs1454445873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:128942827 (GRCh38)
11:128812722 (GRCh37)
Canonical SPDI:: NC_000011.10:128942826:G:C
Gene:: TP53AIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.128942827G>C, NC_000011.9:g.128812722G>C, NG_030401.1:g.5573C>G, NM_022112.2:c.-110C>G, NM_022112.3:c.-110C>G, NM_001251964.1:c.-110C>G, NM_001251964.2:c.-110C>G, NM_001195195.1:c.-110C>G, NM_001195195.2:c.-110C>G, XM_017018115.3:c.17C>G, XM_017018115.2:c.17C>G, XM_017018115.1:c.17C>G, XM_017018116.2:c.-4713C>G, XM_017018113.2:c.17C>G, XM_017018113.1:c.17C>G, XM_017018114.2:c.17C>G, XM_017018114.1:c.17C>G, XM_017018117.2:c.17C>G, XM_017018117.1:c.17C>G, XM_047427398.1:c.17C>G, XP_016873604.1:p.Pro6Arg, XP_016873602.1:p.Pro6Arg, XP_016873603.1:p.Pro6Arg, XP_016873606.1:p.Pro6Arg, XP_047283354.1:p.Pro6Arg

Select item 14490705357.

rs1449070535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:128936608 (GRCh38)
11:128806503 (GRCh37)
Canonical SPDI:: NC_000011.10:128936607:C:G,NC_000011.10:128936607:C:T
Gene:: TP53AIP1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.128936608C>G, NC_000011.10:g.128936608C>T, NC_000011.9:g.128806503C>G, NC_000011.9:g.128806503C>T, NG_030401.1:g.11792G>C, NG_030401.1:g.11792G>A, NM_022112.2:c.183G>C, NM_022112.2:c.183G>A, NM_022112.3:c.183G>C, NM_022112.3:c.183G>A, NM_001251964.1:c.*884G>C, NM_001251964.1:c.*884G>A, NM_001251964.2:c.*884G>C, NM_001251964.2:c.*884G>A, NM_001195195.1:c.183G>C, NM_001195195.1:c.183G>A, NM_001195195.2:c.183G>C, NM_001195195.2:c.183G>A, NM_001195194.1:c.183G>C, NM_001195194.1:c.183G>A, XM_017018115.3:c.*26G>C, XM_017018115.3:c.*26G>A, XM_017018115.2:c.*26G>C, XM_017018115.2:c.*26G>A, XM_017018115.1:c.*26G>C, XM_017018115.1:c.*26G>A, XM_017018116.2:c.183G>C, XM_017018116.2:c.183G>A, XM_017018116.1:c.183G>C, XM_017018116.1:c.183G>A, XM_017018113.2:c.249G>C, XM_017018113.2:c.249G>A, XM_017018113.1:c.249G>C, XM_017018113.1:c.249G>A, XM_017018114.2:c.249G>C, XM_017018114.2:c.249G>A, XM_017018114.1:c.249G>C, XM_017018114.1:c.249G>A, XM_017018117.2:c.249G>C, XM_017018117.2:c.249G>A, XM_017018117.1:c.249G>C, XM_017018117.1:c.249G>A, XM_047427398.1:c.*26G>C, XM_047427398.1:c.*26G>A

Select item 14289922278.

rs1428992227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:128937722 (GRCh38)
11:128807617 (GRCh37)
Canonical SPDI:: NC_000011.10:128937721:C:A,NC_000011.10:128937721:C:T
Gene:: TP53AIP1 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.128937722C>A, NC_000011.10:g.128937722C>T, NC_000011.9:g.128807617C>A, NC_000011.9:g.128807617C>T, NG_030401.1:g.10678G>T, NG_030401.1:g.10678G>A, NM_022112.2:c.97G>T, NM_022112.2:c.97G>A, NM_022112.3:c.97G>T, NM_022112.3:c.97G>A, NM_001251964.1:c.97G>T, NM_001251964.1:c.97G>A, NM_001251964.2:c.97G>T, NM_001251964.2:c.97G>A, NM_001195195.1:c.97G>T, NM_001195195.1:c.97G>A, NM_001195195.2:c.97G>T, NM_001195195.2:c.97G>A, NM_001195194.1:c.97G>T, NM_001195194.1:c.97G>A, XM_017018115.3:c.163G>T, XM_017018115.3:c.163G>A, XM_017018115.2:c.163G>T, XM_017018115.2:c.163G>A, XM_017018115.1:c.163G>T, XM_017018115.1:c.163G>A, XM_017018116.2:c.97G>T, XM_017018116.2:c.97G>A, XM_017018116.1:c.97G>T, XM_017018116.1:c.97G>A, XM_017018113.2:c.163G>T, XM_017018113.2:c.163G>A, XM_017018113.1:c.163G>T, XM_017018113.1:c.163G>A, XM_017018114.2:c.163G>T, XM_017018114.2:c.163G>A, XM_017018114.1:c.163G>T, XM_017018114.1:c.163G>A, XM_017018117.2:c.163G>T, XM_017018117.2:c.163G>A, XM_017018117.1:c.163G>T, XM_017018117.1:c.163G>A, XM_047427398.1:c.163G>T, XM_047427398.1:c.163G>A, NP_071395.2:p.Val33Leu, NP_071395.2:p.Val33Met, NP_001238893.1:p.Val33Leu, NP_001238893.1:p.Val33Met, NP_001182124.1:p.Val33Leu, NP_001182124.1:p.Val33Met, NP_001182123.1:p.Val33Leu, NP_001182123.1:p.Val33Met, XP_016873604.1:p.Val55Leu, XP_016873604.1:p.Val55Met, XP_016873605.1:p.Val33Leu, XP_016873605.1:p.Val33Met, XP_016873602.1:p.Val55Leu, XP_016873602.1:p.Val55Met, XP_016873603.1:p.Val55Leu, XP_016873603.1:p.Val55Met, XP_016873606.1:p.Val55Leu, XP_016873606.1:p.Val55Met, XP_047283354.1:p.Val55Leu, XP_047283354.1:p.Val55Met

Select item 14211513119.

rs1421151311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:128937772 (GRCh38)
11:128807667 (GRCh37)
Canonical SPDI:: NC_000011.10:128937771:C:A
Gene:: TP53AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.128937772C>A, NC_000011.9:g.128807667C>A, NG_030401.1:g.10628G>T, NM_022112.2:c.47G>T, NM_022112.3:c.47G>T, NM_001251964.1:c.47G>T, NM_001251964.2:c.47G>T, NM_001195195.1:c.47G>T, NM_001195195.2:c.47G>T, NM_001195194.1:c.47G>T, XM_017018115.3:c.113G>T, XM_017018115.2:c.113G>T, XM_017018115.1:c.113G>T, XM_017018116.2:c.47G>T, XM_017018116.1:c.47G>T, XM_017018113.2:c.113G>T, XM_017018113.1:c.113G>T, XM_017018114.2:c.113G>T, XM_017018114.1:c.113G>T, XM_017018117.2:c.113G>T, XM_017018117.1:c.113G>T, XM_047427398.1:c.113G>T, NP_071395.2:p.Cys16Phe, NP_001238893.1:p.Cys16Phe, NP_001182124.1:p.Cys16Phe, NP_001182123.1:p.Cys16Phe, XP_016873604.1:p.Cys38Phe, XP_016873605.1:p.Cys16Phe, XP_016873602.1:p.Cys38Phe, XP_016873603.1:p.Cys38Phe, XP_016873606.1:p.Cys38Phe, XP_047283354.1:p.Cys38Phe

Select item 140919714210.

rs1409197142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:128937825 (GRCh38)
11:128807720 (GRCh37)
Canonical SPDI:: NC_000011.10:128937824:G:A
Gene:: TP53AIP1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_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_000011.10:g.128937825G>A, NC_000011.9:g.128807720G>A, NG_030401.1:g.10575C>T, NM_022112.2:c.-7C>T, NM_022112.3:c.-7C>T, NM_001251964.1:c.-7C>T, NM_001251964.2:c.-7C>T, NM_001195195.1:c.-7C>T, NM_001195195.2:c.-7C>T, NM_001195194.1:c.-7C>T, XM_017018115.3:c.60C>T, XM_017018115.2:c.60C>T, XM_017018115.1:c.60C>T, XM_017018116.2:c.-7C>T, XM_017018116.1:c.-7C>T, XM_017018113.2:c.60C>T, XM_017018113.1:c.60C>T, XM_017018114.2:c.60C>T, XM_017018114.1:c.60C>T, XM_017018117.2:c.60C>T, XM_017018117.1:c.60C>T, XM_047427398.1:c.60C>T

Select item 140628073111.

rs1406280731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:128936599 (GRCh38)
11:128806494 (GRCh37)
Canonical SPDI:: NC_000011.10:128936598:T:C
Gene:: TP53AIP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.128936599T>C, NC_000011.9:g.128806494T>C, NG_030401.1:g.11801A>G, NM_022112.2:c.192A>G, NM_022112.3:c.192A>G, NM_001251964.1:c.*893A>G, NM_001251964.2:c.*893A>G, NM_001195195.1:c.192A>G, NM_001195195.2:c.192A>G, NM_001195194.1:c.192A>G, XM_017018115.3:c.*35A>G, XM_017018115.2:c.*35A>G, XM_017018115.1:c.*35A>G, XM_017018116.2:c.192A>G, XM_017018116.1:c.192A>G, XM_017018113.2:c.258A>G, XM_017018113.1:c.258A>G, XM_017018114.2:c.258A>G, XM_017018114.1:c.258A>G, XM_017018117.2:c.258A>G, XM_017018117.1:c.258A>G, XM_047427398.1:c.*35A>G

Select item 140210287612.

rs1402102876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:128937783 (GRCh38)
11:128807678 (GRCh37)
Canonical SPDI:: NC_000011.10:128937782:A:G
Gene:: TP53AIP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.128937783A>G, NC_000011.9:g.128807678A>G, NG_030401.1:g.10617T>C, NM_022112.2:c.36T>C, NM_022112.3:c.36T>C, NM_001251964.1:c.36T>C, NM_001251964.2:c.36T>C, NM_001195195.1:c.36T>C, NM_001195195.2:c.36T>C, NM_001195194.1:c.36T>C, XM_017018115.3:c.102T>C, XM_017018115.2:c.102T>C, XM_017018115.1:c.102T>C, XM_017018116.2:c.36T>C, XM_017018116.1:c.36T>C, XM_017018113.2:c.102T>C, XM_017018113.1:c.102T>C, XM_017018114.2:c.102T>C, XM_017018114.1:c.102T>C, XM_017018117.2:c.102T>C, XM_017018117.1:c.102T>C, XM_047427398.1:c.102T>C

Select item 140180993513.

rs1401809935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:128935039 (GRCh38)
11:128804934 (GRCh37)
Canonical SPDI:: NC_000011.10:128935038:A:G
Gene:: TP53AIP1 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.128935039A>G, NC_000011.9:g.128804934A>G, NG_030401.1:g.13361T>C, NM_001195195.1:c.259T>C, NM_001195195.2:c.259T>C, XM_017018117.2:c.325T>C, XM_017018117.1:c.325T>C, NP_001182124.1:p.Ter87Gln, XP_016873606.1:p.Ter109Gln

Select item 138453595014.

rs1384535950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:128936602 (GRCh38)
11:128806497 (GRCh37)
Canonical SPDI:: NC_000011.10:128936601:C:T
Gene:: TP53AIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.128936602C>T, NC_000011.9:g.128806497C>T, NG_030401.1:g.11798G>A, NM_022112.2:c.189G>A, NM_022112.3:c.189G>A, NM_001251964.1:c.*890G>A, NM_001251964.2:c.*890G>A, NM_001195195.1:c.189G>A, NM_001195195.2:c.189G>A, NM_001195194.1:c.189G>A, XM_017018115.3:c.*32G>A, XM_017018115.2:c.*32G>A, XM_017018115.1:c.*32G>A, XM_017018116.2:c.189G>A, XM_017018116.1:c.189G>A, XM_017018113.2:c.255G>A, XM_017018113.1:c.255G>A, XM_017018114.2:c.255G>A, XM_017018114.1:c.255G>A, XM_017018117.2:c.255G>A, XM_017018117.1:c.255G>A, XM_047427398.1:c.*32G>A

Select item 136120921815.

rs1361209218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:128936591 (GRCh38)
11:128806486 (GRCh37)
Canonical SPDI:: NC_000011.10:128936590:G:A
Gene:: TP53AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
HGVS:: NC_000011.10:g.128936591G>A, NC_000011.9:g.128806486G>A, NG_030401.1:g.11809C>T, NM_022112.2:c.200C>T, NM_022112.3:c.200C>T, NM_001251964.1:c.*901C>T, NM_001251964.2:c.*901C>T, NM_001195195.1:c.200C>T, NM_001195195.2:c.200C>T, NM_001195194.1:c.200C>T, XM_017018115.3:c.*43C>T, XM_017018115.2:c.*43C>T, XM_017018115.1:c.*43C>T, XM_017018116.2:c.200C>T, XM_017018116.1:c.200C>T, XM_017018113.2:c.266C>T, XM_017018113.1:c.266C>T, XM_017018114.2:c.266C>T, XM_017018114.1:c.266C>T, XM_017018117.2:c.266C>T, XM_017018117.1:c.266C>T, XM_047427398.1:c.*43C>T, NP_071395.2:p.Ala67Val, NP_001182124.1:p.Ala67Val, NP_001182123.1:p.Ala67Val, XP_016873605.1:p.Ala67Val, XP_016873602.1:p.Ala89Val, XP_016873603.1:p.Ala89Val, XP_016873606.1:p.Ala89Val

Select item 135596020716.

rs1355960207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:128942839 (GRCh38)
11:128812734 (GRCh37)
Canonical SPDI:: NC_000011.10:128942838:C:T
Gene:: TP53AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_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_000011.10:g.128942839C>T, NC_000011.9:g.128812734C>T, NG_030401.1:g.5561G>A, NM_022112.2:c.-122G>A, NM_022112.3:c.-122G>A, NM_001251964.1:c.-122G>A, NM_001251964.2:c.-122G>A, NM_001195195.1:c.-122G>A, NM_001195195.2:c.-122G>A, XM_017018115.3:c.5G>A, XM_017018115.2:c.5G>A, XM_017018115.1:c.5G>A, XM_017018116.2:c.-4725G>A, XM_017018113.2:c.5G>A, XM_017018113.1:c.5G>A, XM_017018114.2:c.5G>A, XM_017018114.1:c.5G>A, XM_017018117.2:c.5G>A, XM_017018117.1:c.5G>A, XM_047427398.1:c.5G>A, XP_016873604.1:p.Cys2Tyr, XP_016873602.1:p.Cys2Tyr, XP_016873603.1:p.Cys2Tyr, XP_016873606.1:p.Cys2Tyr, XP_047283354.1:p.Cys2Tyr

Select item 134021667817.

rs1340216678 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGAGG>- [Show Flanks]
Chromosome:: 11:128937823 (GRCh38)
11:128807718 (GRCh37)
Canonical SPDI:: NC_000011.10:128937821:GGGGAGG:G
Gene:: TP53AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.128937823_128937828del, NC_000011.9:g.128807718_128807723del, NG_030401.1:g.10573_10578del, NM_022112.2:c.-9_-4del, NM_022112.3:c.-9_-4del, NM_001251964.1:c.-9_-4del, NM_001251964.2:c.-9_-4del, NM_001195195.1:c.-9_-4del, NM_001195195.2:c.-9_-4del, NM_001195194.1:c.-9_-4del, XM_017018115.3:c.58_63del, XM_017018115.2:c.58_63del, XM_017018115.1:c.58_63del, XM_017018116.2:c.-9_-4del, XM_017018116.1:c.-9_-4del, XM_017018113.2:c.58_63del, XM_017018113.1:c.58_63del, XM_017018114.2:c.58_63del, XM_017018114.1:c.58_63del, XM_017018117.2:c.58_63del, XM_017018117.1:c.58_63del, XM_047427398.1:c.58_63del, XP_016873604.1:p.Leu20_Pro21del, XP_016873602.1:p.Leu20_Pro21del, XP_016873603.1:p.Leu20_Pro21del, XP_016873606.1:p.Leu20_Pro21del, XP_047283354.1:p.Leu20_Pro21del

Select item 132148057218.

rs1321480572 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 11:128942835 (GRCh38)
11:128812730 (GRCh37)
Canonical SPDI:: NC_000011.10:128942829:CTCCTCCT:CTCCT
Gene:: TP53AIP1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCT=0./0 (ALFA)
-=0.000071/10 (GnomAD)
-=0.000072/19 (TOPMED)
HGVS:: NC_000011.10:g.128942832CCT[1], NC_000011.9:g.128812727CCT[1], NG_030401.1:g.5565GAG[1], NM_022112.2:c.-118GAG[1], NM_022112.3:c.-118GAG[1], NM_001251964.1:c.-118GAG[1], NM_001251964.2:c.-118GAG[1], NM_001195195.1:c.-118GAG[1], NM_001195195.2:c.-118GAG[1], XM_017018115.3:c.9GAG[1], XM_017018115.2:c.9GAG[1], XM_017018115.1:c.9GAG[1], XM_017018116.2:c.-4721GAG[1], XM_017018113.2:c.9GAG[1], XM_017018113.1:c.9GAG[1], XM_017018114.2:c.9GAG[1], XM_017018114.1:c.9GAG[1], XM_017018117.2:c.9GAG[1], XM_017018117.1:c.9GAG[1], XM_047427398.1:c.9GAG[1], XP_016873604.1:p.Arg5del, XP_016873602.1:p.Arg5del, XP_016873603.1:p.Arg5del, XP_016873606.1:p.Arg5del, XP_047283354.1:p.Arg5del

Select item 130603139519.

rs1306031395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:128942810 (GRCh38)
11:128812705 (GRCh37)
Canonical SPDI:: NC_000011.10:128942809:G:A
Gene:: TP53AIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.128942810G>A, NC_000011.9:g.128812705G>A, NG_030401.1:g.5590C>T, NM_022112.2:c.-93C>T, NM_022112.3:c.-93C>T, NM_001251964.1:c.-93C>T, NM_001251964.2:c.-93C>T, NM_001195195.1:c.-93C>T, NM_001195195.2:c.-93C>T, XM_017018115.3:c.34C>T, XM_017018115.2:c.34C>T, XM_017018115.1:c.34C>T, XM_017018116.2:c.-4696C>T, XM_017018116.1:c.-4696C>T, XM_017018113.2:c.34C>T, XM_017018113.1:c.34C>T, XM_017018114.2:c.34C>T, XM_017018114.1:c.34C>T, XM_017018117.2:c.34C>T, XM_017018117.1:c.34C>T, XM_047427398.1:c.34C>T, XP_016873604.1:p.Arg12Ter, XP_016873602.1:p.Arg12Ter, XP_016873603.1:p.Arg12Ter, XP_016873606.1:p.Arg12Ter, XP_047283354.1:p.Arg12Ter

Select item 129986203120.

rs1299862031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:128937795 (GRCh38)
11:128807690 (GRCh37)
Canonical SPDI:: NC_000011.10:128937794:G:A
Gene:: TP53AIP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.128937795G>A, NC_000011.9:g.128807690G>A, NG_030401.1:g.10605C>T, NM_022112.2:c.24C>T, NM_022112.3:c.24C>T, NM_001251964.1:c.24C>T, NM_001251964.2:c.24C>T, NM_001195195.1:c.24C>T, NM_001195195.2:c.24C>T, NM_001195194.1:c.24C>T, XM_017018115.3:c.90C>T, XM_017018115.2:c.90C>T, XM_017018115.1:c.90C>T, XM_017018116.2:c.24C>T, XM_017018116.1:c.24C>T, XM_017018113.2:c.90C>T, XM_017018113.1:c.90C>T, XM_017018114.2:c.90C>T, XM_017018114.1:c.90C>T, XM_017018117.2:c.90C>T, XM_017018117.1:c.90C>T, XM_047427398.1:c.90C>T

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Result Filters

Validation Status

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Items: 1 to 20 of 96

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