SNP Links for Protein (Select 315221143) - SNP

Links from Protein

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Select item 14905294921.

rs1490529492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:202154258 (GRCh38)
1:202123386 (GRCh37)
Canonical SPDI:: NC_000001.11:202154257:G:T
Gene:: PTPN7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202154258G>T, NC_000001.10:g.202123386G>T, NM_002832.4:c.534C>A, NM_002832.3:c.849C>A, NM_080588.3:c.651C>A, NM_080588.2:c.651C>A, XM_011509820.3:c.516C>A, XM_011509820.2:c.516C>A, XM_011509820.1:c.516C>A, XM_011509819.2:c.849C>A, XM_011509819.1:c.849C>A, XR_921906.2:n.1630C>A, XR_921906.1:n.965C>A, NM_001364877.2:c.531C>A, NM_001364877.1:c.531C>A, NM_001199797.2:c.756C>A, NM_001199797.1:c.756C>A, XM_011509823.2:c.849C>A, XM_011509823.1:c.849C>A, NR_037663.1:n.1577C>A, XR_007062439.1:n.1630C>A, NR_037664.1:n.1446C>A, XM_047426297.1:c.378C>A, XM_047426296.1:c.516C>A, NM_001364878.1:c.534C>A, XR_007062440.1:n.533C>A, NM_080589.1:c.534C>A, XM_047426306.1:c.21C>A, NP_002823.4:p.Asp178Glu, NP_542155.1:p.Asp217Glu, XP_011508122.1:p.Asp172Glu, XP_011508121.1:p.Asp283Glu, NP_001351806.1:p.Asp177Glu, NP_001186726.1:p.Asp252Glu, XP_011508125.1:p.Asp283Glu, XP_047282253.1:p.Asp126Glu, XP_047282252.1:p.Asp172Glu, NP_001351807.1:p.Asp178Glu, XP_047282262.1:p.Asp7Glu

Select item 14845688302.

rs1484568830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:202161517 (GRCh38)
1:202130645 (GRCh37)
Canonical SPDI:: NC_000001.11:202161516:G:T
Gene:: PTPN7 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.202161517G>T, NC_000001.10:g.202130645G>T, NM_002832.3:c.-710C>A, XM_011509820.3:c.-88C>A, XM_011509820.2:c.-88C>A, XM_011509820.1:c.-88C>A, XM_011509819.2:c.-710C>A, XR_921906.2:n.72C>A, NM_001364877.2:c.-183C>A, NM_001364877.1:c.-183C>A, NM_001199797.2:c.44C>A, NM_001199797.1:c.44C>A, XM_011509823.2:c.-710C>A, NR_037663.1:n.72C>A, XR_007062439.1:n.72C>A, NR_037664.1:n.72C>A, XM_047426297.1:c.-173C>A, XM_047426296.1:c.-88C>A, NP_001186726.1:p.Ser15Ter

Select item 14793492623.

rs1479349262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:202154293 (GRCh38)
1:202123421 (GRCh37)
Canonical SPDI:: NC_000001.11:202154292:C:A,NC_000001.11:202154292:C:T
Gene:: PTPN7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202154293C>A, NC_000001.11:g.202154293C>T, NC_000001.10:g.202123421C>A, NC_000001.10:g.202123421C>T, NM_002832.4:c.499G>T, NM_002832.4:c.499G>A, NM_002832.3:c.814G>T, NM_002832.3:c.814G>A, NM_080588.3:c.616G>T, NM_080588.3:c.616G>A, NM_080588.2:c.616G>T, NM_080588.2:c.616G>A, XM_011509820.3:c.481G>T, XM_011509820.3:c.481G>A, XM_011509820.2:c.481G>T, XM_011509820.2:c.481G>A, XM_011509820.1:c.481G>T, XM_011509820.1:c.481G>A, XM_011509819.2:c.814G>T, XM_011509819.2:c.814G>A, XM_011509819.1:c.814G>T, XM_011509819.1:c.814G>A, XR_921906.2:n.1595G>T, XR_921906.2:n.1595G>A, XR_921906.1:n.930G>T, XR_921906.1:n.930G>A, NM_001364877.2:c.496G>T, NM_001364877.2:c.496G>A, NM_001364877.1:c.496G>T, NM_001364877.1:c.496G>A, NM_001199797.2:c.721G>T, NM_001199797.2:c.721G>A, NM_001199797.1:c.721G>T, NM_001199797.1:c.721G>A, XM_011509823.2:c.814G>T, XM_011509823.2:c.814G>A, XM_011509823.1:c.814G>T, XM_011509823.1:c.814G>A, NR_037663.1:n.1542G>T, NR_037663.1:n.1542G>A, XR_007062439.1:n.1595G>T, XR_007062439.1:n.1595G>A, NR_037664.1:n.1411G>T, NR_037664.1:n.1411G>A, XM_047426297.1:c.343G>T, XM_047426297.1:c.343G>A, XM_047426296.1:c.481G>T, XM_047426296.1:c.481G>A, NM_001364878.1:c.499G>T, NM_001364878.1:c.499G>A, XR_007062440.1:n.498G>T, XR_007062440.1:n.498G>A, NM_080589.1:c.499G>T, NM_080589.1:c.499G>A, XM_047426306.1:c.-15G>T, XM_047426306.1:c.-15G>A, NP_002823.4:p.Ala167Ser, NP_002823.4:p.Ala167Thr, NP_542155.1:p.Ala206Ser, NP_542155.1:p.Ala206Thr, XP_011508122.1:p.Ala161Ser, XP_011508122.1:p.Ala161Thr, XP_011508121.1:p.Ala272Ser, XP_011508121.1:p.Ala272Thr, NP_001351806.1:p.Ala166Ser, NP_001351806.1:p.Ala166Thr, NP_001186726.1:p.Ala241Ser, NP_001186726.1:p.Ala241Thr, XP_011508125.1:p.Ala272Ser, XP_011508125.1:p.Ala272Thr, XP_047282253.1:p.Ala115Ser, XP_047282253.1:p.Ala115Thr, XP_047282252.1:p.Ala161Ser, XP_047282252.1:p.Ala161Thr, NP_001351807.1:p.Ala167Ser, NP_001351807.1:p.Ala167Thr

Select item 14761817194.

rs1476181719 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:202159315 (GRCh38)
1:202128443 (GRCh37)
Canonical SPDI:: NC_000001.11:202159314:TTTTTT:TTTTT,NC_000001.11:202159314:TTTTTT:TTTTTTT
Gene:: PTPN7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.202159320del, NC_000001.11:g.202159320dup, NC_000001.10:g.202128448del, NC_000001.10:g.202128448dup, NM_002832.4:c.88del, NM_002832.4:c.88dup, NM_002832.3:c.403del, NM_002832.3:c.403dup, NM_080588.3:c.205del, NM_080588.3:c.205dup, NM_080588.2:c.205del, NM_080588.2:c.205dup, XM_011509820.3:c.70del, XM_011509820.3:c.70dup, XM_011509820.2:c.70del, XM_011509820.2:c.70dup, XM_011509820.1:c.70del, XM_011509820.1:c.70dup, XM_011509819.2:c.403del, XM_011509819.2:c.403dup, XM_011509819.1:c.403del, XM_011509819.1:c.403dup, XR_921906.2:n.1184del, XR_921906.2:n.1184dup, XR_921906.1:n.519del, XR_921906.1:n.519dup, NM_001364877.2:c.88del, NM_001364877.2:c.88dup, NM_001364877.1:c.88del, NM_001364877.1:c.88dup, NM_001199797.2:c.310del, NM_001199797.2:c.310dup, NM_001199797.1:c.310del, NM_001199797.1:c.310dup, XM_011509823.2:c.403del, XM_011509823.2:c.403dup, XM_011509823.1:c.403del, XM_011509823.1:c.403dup, NR_037663.1:n.1184del, NR_037663.1:n.1184dup, XR_007062439.1:n.1184del, XR_007062439.1:n.1184dup, NR_037664.1:n.1184del, NR_037664.1:n.1184dup, XM_047426297.1:c.-16del, XM_047426297.1:c.-16dup, XM_047426296.1:c.70del, XM_047426296.1:c.70dup, NM_001364878.1:c.88del, NM_001364878.1:c.88dup, XR_007062440.1:n.140del, XR_007062440.1:n.140dup, NM_080589.1:c.88del, NM_080589.1:c.88dup, XM_047426306.1:c.-242del, XM_047426306.1:c.-242dup, NP_002823.4:p.Thr30fs, NP_002823.4:p.Thr30fs, NP_542155.1:p.Thr69fs, NP_542155.1:p.Thr69fs, XP_011508122.1:p.Thr24fs, XP_011508122.1:p.Thr24fs, XP_011508121.1:p.Thr135fs, XP_011508121.1:p.Thr135fs, NP_001351806.1:p.Thr30fs, NP_001351806.1:p.Thr30fs, NP_001186726.1:p.Thr104fs, NP_001186726.1:p.Thr104fs, XP_011508125.1:p.Thr135fs, XP_011508125.1:p.Thr135fs, XP_047282252.1:p.Thr24fs, XP_047282252.1:p.Thr24fs, NP_001351807.1:p.Thr30fs, NP_001351807.1:p.Thr30fs

Select item 14760942605.

rs1476094260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:202155572 (GRCh38)
1:202124700 (GRCh37)
Canonical SPDI:: NC_000001.11:202155571:G:A,NC_000001.11:202155571:G:C
Gene:: PTPN7 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202155572G>A, NC_000001.11:g.202155572G>C, NC_000001.10:g.202124700G>A, NC_000001.10:g.202124700G>C, NM_002832.4:c.429C>T, NM_002832.4:c.429C>G, NM_002832.3:c.744C>T, NM_002832.3:c.744C>G, NM_080588.3:c.546C>T, NM_080588.3:c.546C>G, NM_080588.2:c.546C>T, NM_080588.2:c.546C>G, XM_011509820.3:c.411C>T, XM_011509820.3:c.411C>G, XM_011509820.2:c.411C>T, XM_011509820.2:c.411C>G, XM_011509820.1:c.411C>T, XM_011509820.1:c.411C>G, XM_011509819.2:c.744C>T, XM_011509819.2:c.744C>G, XM_011509819.1:c.744C>T, XM_011509819.1:c.744C>G, XR_921906.2:n.1525C>T, XR_921906.2:n.1525C>G, XR_921906.1:n.860C>T, XR_921906.1:n.860C>G, NM_001364877.2:c.426C>T, NM_001364877.2:c.426C>G, NM_001364877.1:c.426C>T, NM_001364877.1:c.426C>G, NM_001199797.2:c.651C>T, NM_001199797.2:c.651C>G, NM_001199797.1:c.651C>T, NM_001199797.1:c.651C>G, XM_011509823.2:c.744C>T, XM_011509823.2:c.744C>G, XM_011509823.1:c.744C>T, XM_011509823.1:c.744C>G, NR_037663.1:n.1472C>T, NR_037663.1:n.1472C>G, XR_007062439.1:n.1525C>T, XR_007062439.1:n.1525C>G, NR_037664.1:n.1341C>T, NR_037664.1:n.1341C>G, XM_047426297.1:c.273C>T, XM_047426297.1:c.273C>G, XM_047426296.1:c.411C>T, XM_047426296.1:c.411C>G, NM_001364878.1:c.429C>T, NM_001364878.1:c.429C>G, XR_007062440.1:n.428C>T, XR_007062440.1:n.428C>G, NM_080589.1:c.429C>T, NM_080589.1:c.429C>G, XM_047426306.1:c.-85C>T, XM_047426306.1:c.-85C>G, NP_002823.4:p.Ser143Arg, NP_542155.1:p.Ser182Arg, XP_011508122.1:p.Ser137Arg, XP_011508121.1:p.Ser248Arg, NP_001351806.1:p.Ser142Arg, NP_001186726.1:p.Ser217Arg, XP_011508125.1:p.Ser248Arg, XP_047282253.1:p.Ser91Arg, XP_047282252.1:p.Ser137Arg, NP_001351807.1:p.Ser143Arg

Select item 14728727236.

rs1472872723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:202161425 (GRCh38)
1:202130553 (GRCh37)
Canonical SPDI:: NC_000001.11:202161424:C:T
Gene:: PTPN7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.202161425C>T, NC_000001.10:g.202130553C>T, NM_002832.3:c.-618G>A, XM_011509820.3:c.5G>A, XM_011509820.2:c.5G>A, XM_011509820.1:c.5G>A, XM_011509819.2:c.-618G>A, XR_921906.2:n.164G>A, NM_001364877.2:c.-91G>A, NM_001364877.1:c.-91G>A, NM_001199797.2:c.136G>A, NM_001199797.1:c.136G>A, XM_011509823.2:c.-618G>A, NR_037663.1:n.164G>A, XR_007062439.1:n.164G>A, NR_037664.1:n.164G>A, XM_047426297.1:c.-81G>A, XM_047426296.1:c.5G>A, XP_011508122.1:p.Gly2Glu, NP_001186726.1:p.Glu46Lys, XP_047282252.1:p.Gly2Glu

Select item 14708156057.

rs1470815605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:202158270 (GRCh38)
1:202127398 (GRCh37)
Canonical SPDI:: NC_000001.11:202158269:C:G,NC_000001.11:202158269:C:T
Gene:: PTPN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202158270C>G, NC_000001.11:g.202158270C>T, NC_000001.10:g.202127398C>G, NC_000001.10:g.202127398C>T, NM_002832.4:c.154G>C, NM_002832.4:c.154G>A, NM_002832.3:c.469G>C, NM_002832.3:c.469G>A, NM_080588.3:c.271G>C, NM_080588.3:c.271G>A, NM_080588.2:c.271G>C, NM_080588.2:c.271G>A, XM_011509820.3:c.136G>C, XM_011509820.3:c.136G>A, XM_011509820.2:c.136G>C, XM_011509820.2:c.136G>A, XM_011509820.1:c.136G>C, XM_011509820.1:c.136G>A, XM_011509819.2:c.469G>C, XM_011509819.2:c.469G>A, XM_011509819.1:c.469G>C, XM_011509819.1:c.469G>A, XR_921906.2:n.1250G>C, XR_921906.2:n.1250G>A, XR_921906.1:n.585G>C, XR_921906.1:n.585G>A, NM_001364877.2:c.154G>C, NM_001364877.2:c.154G>A, NM_001364877.1:c.154G>C, NM_001364877.1:c.154G>A, NM_001199797.2:c.376G>C, NM_001199797.2:c.376G>A, NM_001199797.1:c.376G>C, NM_001199797.1:c.376G>A, XM_011509823.2:c.469G>C, XM_011509823.2:c.469G>A, XM_011509823.1:c.469G>C, XM_011509823.1:c.469G>A, XR_007062439.1:n.1250G>C, XR_007062439.1:n.1250G>A, XM_047426296.1:c.136G>C, XM_047426296.1:c.136G>A, NM_001364878.1:c.154G>C, NM_001364878.1:c.154G>A, NM_080589.1:c.154G>C, NM_080589.1:c.154G>A, NP_002823.4:p.Val52Leu, NP_002823.4:p.Val52Ile, NP_542155.1:p.Val91Leu, NP_542155.1:p.Val91Ile, XP_011508122.1:p.Val46Leu, XP_011508122.1:p.Val46Ile, XP_011508121.1:p.Val157Leu, XP_011508121.1:p.Val157Ile, NP_001351806.1:p.Val52Leu, NP_001351806.1:p.Val52Ile, NP_001186726.1:p.Val126Leu, NP_001186726.1:p.Val126Ile, XP_011508125.1:p.Val157Leu, XP_011508125.1:p.Val157Ile, XP_047282252.1:p.Val46Leu, XP_047282252.1:p.Val46Ile, NP_001351807.1:p.Val52Leu, NP_001351807.1:p.Val52Ile

Select item 14690307808.

rs1469030780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:202158211 (GRCh38)
1:202127339 (GRCh37)
Canonical SPDI:: NC_000001.11:202158210:G:A
Gene:: PTPN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202158211G>A, NC_000001.10:g.202127339G>A, NM_002832.4:c.213C>T, NM_002832.3:c.528C>T, NM_080588.3:c.330C>T, NM_080588.2:c.330C>T, XM_011509820.3:c.195C>T, XM_011509820.2:c.195C>T, XM_011509820.1:c.195C>T, XM_011509819.2:c.528C>T, XM_011509819.1:c.528C>T, XR_921906.2:n.1309C>T, XR_921906.1:n.644C>T, NM_001364877.2:c.213C>T, NM_001364877.1:c.213C>T, NM_001199797.2:c.435C>T, NM_001199797.1:c.435C>T, XM_011509823.2:c.528C>T, XM_011509823.1:c.528C>T, NR_037663.1:n.1256C>T, XR_007062439.1:n.1309C>T, XM_047426297.1:c.57C>T, XM_047426296.1:c.195C>T, NM_001364878.1:c.213C>T, XR_007062440.1:n.212C>T, NM_080589.1:c.213C>T

Select item 14674701529.

rs1467470152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:202161435 (GRCh38)
1:202130563 (GRCh37)
Canonical SPDI:: NC_000001.11:202161434:C:G,NC_000001.11:202161434:C:T
Gene:: PTPN7 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.202161435C>G, NC_000001.11:g.202161435C>T, NC_000001.10:g.202130563C>G, NC_000001.10:g.202130563C>T, NM_002832.3:c.-628G>C, NM_002832.3:c.-628G>A, XM_011509820.3:c.-6G>C, XM_011509820.3:c.-6G>A, XM_011509820.2:c.-6G>C, XM_011509820.2:c.-6G>A, XM_011509820.1:c.-6G>C, XM_011509820.1:c.-6G>A, XM_011509819.2:c.-628G>C, XM_011509819.2:c.-628G>A, XR_921906.2:n.154G>C, XR_921906.2:n.154G>A, NM_001364877.2:c.-101G>C, NM_001364877.2:c.-101G>A, NM_001364877.1:c.-101G>C, NM_001364877.1:c.-101G>A, NM_001199797.2:c.126G>C, NM_001199797.2:c.126G>A, NM_001199797.1:c.126G>C, NM_001199797.1:c.126G>A, XM_011509823.2:c.-628G>C, XM_011509823.2:c.-628G>A, NR_037663.1:n.154G>C, NR_037663.1:n.154G>A, XR_007062439.1:n.154G>C, XR_007062439.1:n.154G>A, NR_037664.1:n.154G>C, NR_037664.1:n.154G>A, XM_047426297.1:c.-91G>C, XM_047426297.1:c.-91G>A, XM_047426296.1:c.-6G>C, XM_047426296.1:c.-6G>A, NP_001186726.1:p.Lys42Asn

Select item 146453602010.

rs1464536020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:202155580 (GRCh38)
1:202124708 (GRCh37)
Canonical SPDI:: NC_000001.11:202155579:C:T
Gene:: PTPN7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.202155580C>T, NC_000001.10:g.202124708C>T, NM_002832.4:c.421G>A, NM_002832.3:c.736G>A, NM_080588.3:c.538G>A, NM_080588.2:c.538G>A, XM_011509820.3:c.403G>A, XM_011509820.2:c.403G>A, XM_011509820.1:c.403G>A, XM_011509819.2:c.736G>A, XM_011509819.1:c.736G>A, XR_921906.2:n.1517G>A, XR_921906.1:n.852G>A, NM_001364877.2:c.418G>A, NM_001364877.1:c.418G>A, NM_001199797.2:c.643G>A, NM_001199797.1:c.643G>A, XM_011509823.2:c.736G>A, XM_011509823.1:c.736G>A, NR_037663.1:n.1464G>A, XR_007062439.1:n.1517G>A, NR_037664.1:n.1333G>A, XM_047426297.1:c.265G>A, XM_047426296.1:c.403G>A, NM_001364878.1:c.421G>A, XR_007062440.1:n.420G>A, NM_080589.1:c.421G>A, XM_047426306.1:c.-93G>A, NP_002823.4:p.Ala141Thr, NP_542155.1:p.Ala180Thr, XP_011508122.1:p.Ala135Thr, XP_011508121.1:p.Ala246Thr, NP_001351806.1:p.Ala140Thr, NP_001186726.1:p.Ala215Thr, XP_011508125.1:p.Ala246Thr, XP_047282253.1:p.Ala89Thr, XP_047282252.1:p.Ala135Thr, NP_001351807.1:p.Ala141Thr

Select item 146292003611.

rs1462920036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:202158229 (GRCh38)
1:202127357 (GRCh37)
Canonical SPDI:: NC_000001.11:202158228:G:A
Gene:: PTPN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.202158229G>A, NC_000001.10:g.202127357G>A, NM_002832.4:c.195C>T, NM_002832.3:c.510C>T, NM_080588.3:c.312C>T, NM_080588.2:c.312C>T, XM_011509820.3:c.177C>T, XM_011509820.2:c.177C>T, XM_011509820.1:c.177C>T, XM_011509819.2:c.510C>T, XM_011509819.1:c.510C>T, XR_921906.2:n.1291C>T, XR_921906.1:n.626C>T, NM_001364877.2:c.195C>T, NM_001364877.1:c.195C>T, NM_001199797.2:c.417C>T, NM_001199797.1:c.417C>T, XM_011509823.2:c.510C>T, XM_011509823.1:c.510C>T, NR_037663.1:n.1238C>T, XR_007062439.1:n.1291C>T, XM_047426297.1:c.39C>T, XM_047426296.1:c.177C>T, NM_001364878.1:c.195C>T, XR_007062440.1:n.194C>T, NM_080589.1:c.195C>T

Select item 146290786812.

rs1462907868 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:202153809 (GRCh38)
1:202122938 (GRCh37)
Canonical SPDI:: NC_000001.11:202153809:TCT:TCTCT
Gene:: PTPN7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: TC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202153811_202153812dup, NC_000001.10:g.202122939_202122940dup, NM_002832.4:c.631_632dup, NM_002832.3:c.946_947dup, NM_080588.3:c.748_749dup, NM_080588.2:c.748_749dup, XM_011509820.3:c.613_614dup, XM_011509820.2:c.613_614dup, XM_011509820.1:c.613_614dup, XM_011509819.2:c.946_947dup, XM_011509819.1:c.946_947dup, XR_921906.2:n.1727_1728dup, XR_921906.1:n.1062_1063dup, NM_001364877.2:c.628_629dup, NM_001364877.1:c.628_629dup, NM_001199797.2:c.853_854dup, NM_001199797.1:c.853_854dup, XM_011509823.2:c.*25_*26dup, XM_011509823.1:c.*25_*26dup, NR_037663.1:n.1674_1675dup, XR_007062439.1:n.1727_1728dup, NR_037664.1:n.1543_1544dup, XM_047426297.1:c.475_476dup, XM_047426296.1:c.613_614dup, NM_001364878.1:c.631_632dup, XR_007062440.1:n.630_631dup, NM_080589.1:c.631_632dup, XM_047426306.1:c.118_119dup, NP_002823.4:p.Glu212fs, NP_542155.1:p.Glu251fs, XP_011508122.1:p.Glu206fs, XP_011508121.1:p.Glu317fs, NP_001351806.1:p.Glu211fs, NP_001186726.1:p.Glu286fs, XP_047282253.1:p.Glu160fs, XP_047282252.1:p.Glu206fs, NP_001351807.1:p.Glu212fs, XP_047282262.1:p.Glu41fs

Select item 145902042113.

rs1459020421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:202158154 (GRCh38)
1:202127282 (GRCh37)
Canonical SPDI:: NC_000001.11:202158153:C:T
Gene:: PTPN7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.202158154C>T, NC_000001.10:g.202127282C>T, NM_002832.4:c.270G>A, NM_002832.3:c.585G>A, NM_080588.3:c.387G>A, NM_080588.2:c.387G>A, XM_011509820.3:c.252G>A, XM_011509820.2:c.252G>A, XM_011509820.1:c.252G>A, XM_011509819.2:c.585G>A, XM_011509819.1:c.585G>A, XR_921906.2:n.1366G>A, XR_921906.1:n.701G>A, NM_001364877.2:c.270G>A, NM_001364877.1:c.270G>A, NM_001199797.2:c.492G>A, NM_001199797.1:c.492G>A, XM_011509823.2:c.585G>A, XM_011509823.1:c.585G>A, NR_037663.1:n.1313G>A, XR_007062439.1:n.1366G>A, XM_047426297.1:c.114G>A, XM_047426296.1:c.252G>A, NM_001364878.1:c.270G>A, XR_007062440.1:n.269G>A, NM_080589.1:c.270G>A

Select item 145296520414.

rs1452965204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:202154305 (GRCh38)
1:202123433 (GRCh37)
Canonical SPDI:: NC_000001.11:202154304:T:G
Gene:: PTPN7 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202154305T>G, NC_000001.10:g.202123433T>G, NM_002832.4:c.487A>C, NM_002832.3:c.802A>C, NM_080588.3:c.604A>C, NM_080588.2:c.604A>C, XM_011509820.3:c.469A>C, XM_011509820.2:c.469A>C, XM_011509820.1:c.469A>C, XM_011509819.2:c.802A>C, XM_011509819.1:c.802A>C, XR_921906.2:n.1583A>C, XR_921906.1:n.918A>C, NM_001364877.2:c.484A>C, NM_001364877.1:c.484A>C, NM_001199797.2:c.709A>C, NM_001199797.1:c.709A>C, XM_011509823.2:c.802A>C, XM_011509823.1:c.802A>C, NR_037663.1:n.1530A>C, XR_007062439.1:n.1583A>C, NR_037664.1:n.1399A>C, XM_047426297.1:c.331A>C, XM_047426296.1:c.469A>C, NM_001364878.1:c.487A>C, XR_007062440.1:n.486A>C, NM_080589.1:c.487A>C, XM_047426306.1:c.-27A>C, NP_002823.4:p.Lys163Gln, NP_542155.1:p.Lys202Gln, XP_011508122.1:p.Lys157Gln, XP_011508121.1:p.Lys268Gln, NP_001351806.1:p.Lys162Gln, NP_001186726.1:p.Lys237Gln, XP_011508125.1:p.Lys268Gln, XP_047282253.1:p.Lys111Gln, XP_047282252.1:p.Lys157Gln, NP_001351807.1:p.Lys163Gln

Select item 145258541715.

rs1452585417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:202152581 (GRCh38)
1:202121709 (GRCh37)
Canonical SPDI:: NC_000001.11:202152580:T:G
Gene:: PTPN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_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.202152581T>G, NC_000001.10:g.202121709T>G, NM_002832.4:c.836A>C, NM_002832.3:c.1151A>C, NM_080588.3:c.953A>C, NM_080588.2:c.953A>C, XM_011509820.3:c.818A>C, XM_011509820.2:c.818A>C, XM_011509820.1:c.818A>C, XM_011509819.2:c.1151A>C, XM_011509819.1:c.1151A>C, XR_921906.2:n.1932A>C, XR_921906.1:n.1267A>C, NM_001364877.2:c.833A>C, NM_001364877.1:c.833A>C, NM_001199797.2:c.1058A>C, NM_001199797.1:c.1058A>C, NR_037663.1:n.1879A>C, XR_007062439.1:n.1932A>C, NR_037664.1:n.1748A>C, XM_047426297.1:c.680A>C, XM_047426296.1:c.818A>C, NM_001364878.1:c.836A>C, XR_007062440.1:n.835A>C, NM_080589.1:c.836A>C, XM_047426306.1:c.323A>C, NP_002823.4:p.Glu279Ala, NP_542155.1:p.Glu318Ala, XP_011508122.1:p.Glu273Ala, XP_011508121.1:p.Glu384Ala, NP_001351806.1:p.Glu278Ala, NP_001186726.1:p.Glu353Ala, XP_047282253.1:p.Glu227Ala, XP_047282252.1:p.Glu273Ala, NP_001351807.1:p.Glu279Ala, XP_047282262.1:p.Glu108Ala

Select item 144744584316.

rs1447445843 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:202161462 (GRCh38)
1:202130590 (GRCh37)
Canonical SPDI:: NC_000001.11:202161461:GGG:GG
Gene:: PTPN7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202161464del, NC_000001.10:g.202130592del, NM_002832.3:c.-655del, XM_011509820.3:c.-33del, XM_011509820.2:c.-33del, XM_011509820.1:c.-33del, XM_011509819.2:c.-655del, XR_921906.2:n.127del, NM_001364877.2:c.-128del, NM_001364877.1:c.-128del, NM_001199797.2:c.99del, NM_001199797.1:c.99del, XM_011509823.2:c.-655del, NR_037663.1:n.127del, XR_007062439.1:n.127del, NR_037664.1:n.127del, XM_047426297.1:c.-118del, XM_047426296.1:c.-33del, NP_001186726.1:p.Arg34fs

Select item 144658044717.

rs1446580447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:202154230 (GRCh38)
1:202123358 (GRCh37)
Canonical SPDI:: NC_000001.11:202154229:C:G,NC_000001.11:202154229:C:T
Gene:: PTPN7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.202154230C>G, NC_000001.11:g.202154230C>T, NC_000001.10:g.202123358C>G, NC_000001.10:g.202123358C>T, NM_002832.4:c.562G>C, NM_002832.4:c.562G>A, NM_002832.3:c.877G>C, NM_002832.3:c.877G>A, NM_080588.3:c.679G>C, NM_080588.3:c.679G>A, NM_080588.2:c.679G>C, NM_080588.2:c.679G>A, XM_011509820.3:c.544G>C, XM_011509820.3:c.544G>A, XM_011509820.2:c.544G>C, XM_011509820.2:c.544G>A, XM_011509820.1:c.544G>C, XM_011509820.1:c.544G>A, XM_011509819.2:c.877G>C, XM_011509819.2:c.877G>A, XM_011509819.1:c.877G>C, XM_011509819.1:c.877G>A, XR_921906.2:n.1658G>C, XR_921906.2:n.1658G>A, XR_921906.1:n.993G>C, XR_921906.1:n.993G>A, NM_001364877.2:c.559G>C, NM_001364877.2:c.559G>A, NM_001364877.1:c.559G>C, NM_001364877.1:c.559G>A, NM_001199797.2:c.784G>C, NM_001199797.2:c.784G>A, NM_001199797.1:c.784G>C, NM_001199797.1:c.784G>A, XM_011509823.2:c.877G>C, XM_011509823.2:c.877G>A, XM_011509823.1:c.877G>C, XM_011509823.1:c.877G>A, NR_037663.1:n.1605G>C, NR_037663.1:n.1605G>A, XR_007062439.1:n.1658G>C, XR_007062439.1:n.1658G>A, NR_037664.1:n.1474G>C, NR_037664.1:n.1474G>A, XM_047426297.1:c.406G>C, XM_047426297.1:c.406G>A, XM_047426296.1:c.544G>C, XM_047426296.1:c.544G>A, NM_001364878.1:c.562G>C, NM_001364878.1:c.562G>A, XR_007062440.1:n.561G>C, XR_007062440.1:n.561G>A, NM_080589.1:c.562G>C, NM_080589.1:c.562G>A, XM_047426306.1:c.49G>C, XM_047426306.1:c.49G>A, NP_002823.4:p.Val188Leu, NP_002823.4:p.Val188Met, NP_542155.1:p.Val227Leu, NP_542155.1:p.Val227Met, XP_011508122.1:p.Val182Leu, XP_011508122.1:p.Val182Met, XP_011508121.1:p.Val293Leu, XP_011508121.1:p.Val293Met, NP_001351806.1:p.Val187Leu, NP_001351806.1:p.Val187Met, NP_001186726.1:p.Val262Leu, NP_001186726.1:p.Val262Met, XP_011508125.1:p.Val293Leu, XP_011508125.1:p.Val293Met, XP_047282253.1:p.Val136Leu, XP_047282253.1:p.Val136Met, XP_047282252.1:p.Val182Leu, XP_047282252.1:p.Val182Met, NP_001351807.1:p.Val188Leu, NP_001351807.1:p.Val188Met, XP_047282262.1:p.Val17Leu, XP_047282262.1:p.Val17Met

Select item 144484514618.

rs1444845146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:202158224 (GRCh38)
1:202127352 (GRCh37)
Canonical SPDI:: NC_000001.11:202158223:G:A
Gene:: PTPN7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.202158224G>A, NC_000001.10:g.202127352G>A, NM_002832.4:c.200C>T, NM_002832.3:c.515C>T, NM_080588.3:c.317C>T, NM_080588.2:c.317C>T, XM_011509820.3:c.182C>T, XM_011509820.2:c.182C>T, XM_011509820.1:c.182C>T, XM_011509819.2:c.515C>T, XM_011509819.1:c.515C>T, XR_921906.2:n.1296C>T, XR_921906.1:n.631C>T, NM_001364877.2:c.200C>T, NM_001364877.1:c.200C>T, NM_001199797.2:c.422C>T, NM_001199797.1:c.422C>T, XM_011509823.2:c.515C>T, XM_011509823.1:c.515C>T, NR_037663.1:n.1243C>T, XR_007062439.1:n.1296C>T, XM_047426297.1:c.44C>T, XM_047426296.1:c.182C>T, NM_001364878.1:c.200C>T, XR_007062440.1:n.199C>T, NM_080589.1:c.200C>T, NP_002823.4:p.Pro67Leu, NP_542155.1:p.Pro106Leu, XP_011508122.1:p.Pro61Leu, XP_011508121.1:p.Pro172Leu, NP_001351806.1:p.Pro67Leu, NP_001186726.1:p.Pro141Leu, XP_011508125.1:p.Pro172Leu, XP_047282253.1:p.Pro15Leu, XP_047282252.1:p.Pro61Leu, NP_001351807.1:p.Pro67Leu

Select item 144246256719.

rs1442462567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:202161507 (GRCh38)
1:202130635 (GRCh37)
Canonical SPDI:: NC_000001.11:202161506:G:A,NC_000001.11:202161506:G:C
Gene:: PTPN7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202161507G>A, NC_000001.11:g.202161507G>C, NC_000001.10:g.202130635G>A, NC_000001.10:g.202130635G>C, NM_002832.3:c.-700C>T, NM_002832.3:c.-700C>G, XM_011509820.3:c.-78C>T, XM_011509820.3:c.-78C>G, XM_011509820.2:c.-78C>T, XM_011509820.2:c.-78C>G, XM_011509820.1:c.-78C>T, XM_011509820.1:c.-78C>G, XM_011509819.2:c.-700C>T, XM_011509819.2:c.-700C>G, XR_921906.2:n.82C>T, XR_921906.2:n.82C>G, NM_001364877.2:c.-173C>T, NM_001364877.2:c.-173C>G, NM_001364877.1:c.-173C>T, NM_001364877.1:c.-173C>G, NM_001199797.2:c.54C>T, NM_001199797.2:c.54C>G, NM_001199797.1:c.54C>T, NM_001199797.1:c.54C>G, XM_011509823.2:c.-700C>T, XM_011509823.2:c.-700C>G, NR_037663.1:n.82C>T, NR_037663.1:n.82C>G, XR_007062439.1:n.82C>T, XR_007062439.1:n.82C>G, NR_037664.1:n.82C>T, NR_037664.1:n.82C>G, XM_047426297.1:c.-163C>T, XM_047426297.1:c.-163C>G, XM_047426296.1:c.-78C>T, XM_047426296.1:c.-78C>G

Select item 144166253020.

rs1441662530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:202153756 (GRCh38)
1:202122884 (GRCh37)
Canonical SPDI:: NC_000001.11:202153755:G:T
Gene:: PTPN7 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.202153756G>T, NC_000001.10:g.202122884G>T, NM_002832.4:c.686C>A, NM_002832.3:c.1001C>A, NM_080588.3:c.803C>A, NM_080588.2:c.803C>A, XM_011509820.3:c.668C>A, XM_011509820.2:c.668C>A, XM_011509820.1:c.668C>A, XM_011509819.2:c.1001C>A, XM_011509819.1:c.1001C>A, XR_921906.2:n.1782C>A, XR_921906.1:n.1117C>A, NM_001364877.2:c.683C>A, NM_001364877.1:c.683C>A, NM_001199797.2:c.908C>A, NM_001199797.1:c.908C>A, NR_037663.1:n.1729C>A, XR_007062439.1:n.1782C>A, NR_037664.1:n.1598C>A, XM_047426297.1:c.530C>A, XM_047426296.1:c.668C>A, NM_001364878.1:c.686C>A, XR_007062440.1:n.685C>A, NM_080589.1:c.686C>A, XM_047426306.1:c.173C>A, NP_002823.4:p.Pro229Gln, NP_542155.1:p.Pro268Gln, XP_011508122.1:p.Pro223Gln, XP_011508121.1:p.Pro334Gln, NP_001351806.1:p.Pro228Gln, NP_001186726.1:p.Pro303Gln, XP_047282253.1:p.Pro177Gln, XP_047282252.1:p.Pro223Gln, NP_001351807.1:p.Pro229Gln, XP_047282262.1:p.Pro58Gln

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