SNP Links for Protein (Select 51173746) - SNP

Links from Protein

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Select item 14815862731.

rs1481586273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:125229187 (GRCh38)
6:125550333 (GRCh37)
Canonical SPDI:: NC_000006.12:125229186:C:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.125229187C>T, NC_000006.11:g.125550333C>T, NG_029911.1:g.80455C>T, NM_003287.4:c.205C>T, NM_003287.3:c.205C>T, NM_003287.2:c.205C>T, NM_001003395.3:c.118C>T, NM_001003395.2:c.118C>T, NM_001003395.1:c.118C>T, NM_001292026.3:c.118C>T, NM_001292026.2:c.118C>T, NM_001292026.1:c.118C>T, NM_001300994.3:c.205C>T, NM_001300994.2:c.205C>T, NM_001300994.1:c.205C>T, NM_001003396.3:c.205C>T, NM_001003396.2:c.205C>T, NM_001003396.1:c.205C>T, NM_001003397.3:c.205C>T, NM_001003397.2:c.205C>T, NM_001003397.1:c.205C>T, NM_001318903.2:c.205C>T, NM_001318903.1:c.205C>T, NM_001318907.2:c.118C>T, NM_001318907.1:c.118C>T, XM_017011239.2:c.118C>T, XM_017011239.1:c.118C>T, XM_047419286.1:c.118C>T, XM_047419287.1:c.118C>T, XM_047419288.1:c.205C>T, NP_003278.1:p.Gln69Ter, NP_001003395.1:p.Gln40Ter, NP_001278955.1:p.Gln40Ter, NP_001287923.1:p.Gln69Ter, NP_001003396.1:p.Gln69Ter, NP_001003397.1:p.Gln69Ter, NP_001305832.1:p.Gln69Ter, NP_001305836.1:p.Gln40Ter, XP_016866728.1:p.Gln40Ter, XP_047275242.1:p.Gln40Ter, XP_047275243.1:p.Gln40Ter, XP_047275244.1:p.Gln69Ter

Select item 14738766142.

rs1473876614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:125253719 (GRCh38)
6:125574865 (GRCh37)
Canonical SPDI:: NC_000006.12:125253718:A:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.125253719A>T, NC_000006.11:g.125574865A>T, NG_029911.1:g.104987A>T, NM_003287.4:c.389A>T, NM_003287.3:c.389A>T, NM_003287.2:c.389A>T, NM_001003395.3:c.302A>T, NM_001003395.2:c.302A>T, NM_001003395.1:c.302A>T, NM_001003396.3:c.389A>T, NM_001003396.2:c.389A>T, NM_001003396.1:c.389A>T, NM_001318903.2:c.404A>T, NM_001318903.1:c.404A>T, XM_017011239.2:c.302A>T, XM_017011239.1:c.302A>T, XM_047419286.1:c.302A>T, NP_003278.1:p.Tyr130Phe, NP_001003395.1:p.Tyr101Phe, NP_001003396.1:p.Tyr130Phe, NP_001305832.1:p.Tyr135Phe, XP_016866728.1:p.Tyr101Phe, XP_047275242.1:p.Tyr101Phe

Select item 14578168253.

rs1457816825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:125220167 (GRCh38)
6:125541313 (GRCh37)
Canonical SPDI:: NC_000006.12:125220166:G:A
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000006.12:g.125220167G>A, NC_000006.11:g.125541313G>A, NG_029911.1:g.71435G>A, NM_003287.4:c.109G>A, NM_003287.3:c.109G>A, NM_003287.2:c.109G>A, NM_001003395.3:c.22G>A, NM_001003395.2:c.22G>A, NM_001003395.1:c.22G>A, NM_001292026.3:c.22G>A, NM_001292026.2:c.22G>A, NM_001292026.1:c.22G>A, NM_001300994.3:c.109G>A, NM_001300994.2:c.109G>A, NM_001300994.1:c.109G>A, NM_001003396.3:c.109G>A, NM_001003396.2:c.109G>A, NM_001003396.1:c.109G>A, NM_001003397.3:c.109G>A, NM_001003397.2:c.109G>A, NM_001003397.1:c.109G>A, NM_001318903.2:c.109G>A, NM_001318903.1:c.109G>A, NM_001318907.2:c.22G>A, NM_001318907.1:c.22G>A, XM_017011239.2:c.22G>A, XM_017011239.1:c.22G>A, XM_047419286.1:c.22G>A, XM_047419287.1:c.22G>A, XM_047419288.1:c.109G>A, NP_003278.1:p.Glu37Lys, NP_001003395.1:p.Glu8Lys, NP_001278955.1:p.Glu8Lys, NP_001287923.1:p.Glu37Lys, NP_001003396.1:p.Glu37Lys, NP_001003397.1:p.Glu37Lys, NP_001305832.1:p.Glu37Lys, NP_001305836.1:p.Glu8Lys, XP_016866728.1:p.Glu8Lys, XP_047275242.1:p.Glu8Lys, XP_047275243.1:p.Glu8Lys, XP_047275244.1:p.Glu37Lys

Select item 14577691294.

rs1457769129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:125253729 (GRCh38)
6:125574875 (GRCh37)
Canonical SPDI:: NC_000006.12:125253728:C:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000006.12:g.125253729C>T, NC_000006.11:g.125574875C>T, NG_029911.1:g.104997C>T, NM_003287.4:c.399C>T, NM_003287.3:c.399C>T, NM_003287.2:c.399C>T, NM_001003395.3:c.312C>T, NM_001003395.2:c.312C>T, NM_001003395.1:c.312C>T, NM_001003396.3:c.399C>T, NM_001003396.2:c.399C>T, NM_001003396.1:c.399C>T, NM_001318903.2:c.414C>T, NM_001318903.1:c.414C>T, XM_017011239.2:c.312C>T, XM_017011239.1:c.312C>T, XM_047419286.1:c.312C>T

Select item 14458490815.

rs1445849081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:125220148 (GRCh38)
6:125541294 (GRCh37)
Canonical SPDI:: NC_000006.12:125220147:G:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,initiator_codon_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.125220148G>T, NC_000006.11:g.125541294G>T, NG_029911.1:g.71416G>T, NM_003287.4:c.90G>T, NM_003287.3:c.90G>T, NM_003287.2:c.90G>T, NM_001003395.3:c.3G>T, NM_001003395.2:c.3G>T, NM_001003395.1:c.3G>T, NM_001292026.3:c.3G>T, NM_001292026.2:c.3G>T, NM_001292026.1:c.3G>T, NM_001300994.3:c.90G>T, NM_001300994.2:c.90G>T, NM_001300994.1:c.90G>T, NM_001003396.3:c.90G>T, NM_001003396.2:c.90G>T, NM_001003396.1:c.90G>T, NM_001003397.3:c.90G>T, NM_001003397.2:c.90G>T, NM_001003397.1:c.90G>T, NM_001318903.2:c.90G>T, NM_001318903.1:c.90G>T, NM_001318907.2:c.3G>T, NM_001318907.1:c.3G>T, XM_017011239.2:c.3G>T, XM_017011239.1:c.3G>T, XM_047419286.1:c.3G>T, XM_047419287.1:c.3G>T, XM_047419288.1:c.90G>T, NP_003278.1:p.Met30Ile, NP_001003395.1:p.Met1Ile, NP_001278955.1:p.Met1Ile, NP_001287923.1:p.Met30Ile, NP_001003396.1:p.Met30Ile, NP_001003397.1:p.Met30Ile, NP_001305832.1:p.Met30Ile, NP_001305836.1:p.Met1Ile, XP_016866728.1:p.Met1Ile, XP_047275242.1:p.Met1Ile, XP_047275243.1:p.Met1Ile, XP_047275244.1:p.Met30Ile

Select item 14369992026.

rs1436999202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:125229209 (GRCh38)
6:125550355 (GRCh37)
Canonical SPDI:: NC_000006.12:125229208:T:A,NC_000006.12:125229208:T:C
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.125229209T>A, NC_000006.12:g.125229209T>C, NC_000006.11:g.125550355T>A, NC_000006.11:g.125550355T>C, NG_029911.1:g.80477T>A, NG_029911.1:g.80477T>C, NM_003287.4:c.227T>A, NM_003287.4:c.227T>C, NM_003287.3:c.227T>A, NM_003287.3:c.227T>C, NM_003287.2:c.227T>A, NM_003287.2:c.227T>C, NM_001003395.3:c.140T>A, NM_001003395.3:c.140T>C, NM_001003395.2:c.140T>A, NM_001003395.2:c.140T>C, NM_001003395.1:c.140T>A, NM_001003395.1:c.140T>C, NM_001292026.3:c.140T>A, NM_001292026.3:c.140T>C, NM_001292026.2:c.140T>A, NM_001292026.2:c.140T>C, NM_001292026.1:c.140T>A, NM_001292026.1:c.140T>C, NM_001300994.3:c.227T>A, NM_001300994.3:c.227T>C, NM_001300994.2:c.227T>A, NM_001300994.2:c.227T>C, NM_001300994.1:c.227T>A, NM_001300994.1:c.227T>C, NM_001003396.3:c.227T>A, NM_001003396.3:c.227T>C, NM_001003396.2:c.227T>A, NM_001003396.2:c.227T>C, NM_001003396.1:c.227T>A, NM_001003396.1:c.227T>C, NM_001003397.3:c.227T>A, NM_001003397.3:c.227T>C, NM_001003397.2:c.227T>A, NM_001003397.2:c.227T>C, NM_001003397.1:c.227T>A, NM_001003397.1:c.227T>C, NM_001318903.2:c.227T>A, NM_001318903.2:c.227T>C, NM_001318903.1:c.227T>A, NM_001318903.1:c.227T>C, NM_001318907.2:c.140T>A, NM_001318907.2:c.140T>C, NM_001318907.1:c.140T>A, NM_001318907.1:c.140T>C, XM_017011239.2:c.140T>A, XM_017011239.2:c.140T>C, XM_017011239.1:c.140T>A, XM_017011239.1:c.140T>C, XM_047419286.1:c.140T>A, XM_047419286.1:c.140T>C, XM_047419287.1:c.140T>A, XM_047419287.1:c.140T>C, XM_047419288.1:c.227T>A, XM_047419288.1:c.227T>C, NP_003278.1:p.Met76Lys, NP_003278.1:p.Met76Thr, NP_001003395.1:p.Met47Lys, NP_001003395.1:p.Met47Thr, NP_001278955.1:p.Met47Lys, NP_001278955.1:p.Met47Thr, NP_001287923.1:p.Met76Lys, NP_001287923.1:p.Met76Thr, NP_001003396.1:p.Met76Lys, NP_001003396.1:p.Met76Thr, NP_001003397.1:p.Met76Lys, NP_001003397.1:p.Met76Thr, NP_001305832.1:p.Met76Lys, NP_001305832.1:p.Met76Thr, NP_001305836.1:p.Met47Lys, NP_001305836.1:p.Met47Thr, XP_016866728.1:p.Met47Lys, XP_016866728.1:p.Met47Thr, XP_047275242.1:p.Met47Lys, XP_047275242.1:p.Met47Thr, XP_047275243.1:p.Met47Lys, XP_047275243.1:p.Met47Thr, XP_047275244.1:p.Met76Lys, XP_047275244.1:p.Met76Thr

Select item 14316535357.

rs1431653535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:125229197 (GRCh38)
6:125550343 (GRCh37)
Canonical SPDI:: NC_000006.12:125229196:G:A
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.125229197G>A, NC_000006.11:g.125550343G>A, NG_029911.1:g.80465G>A, NM_003287.4:c.215G>A, NM_003287.3:c.215G>A, NM_003287.2:c.215G>A, NM_001003395.3:c.128G>A, NM_001003395.2:c.128G>A, NM_001003395.1:c.128G>A, NM_001292026.3:c.128G>A, NM_001292026.2:c.128G>A, NM_001292026.1:c.128G>A, NM_001300994.3:c.215G>A, NM_001300994.2:c.215G>A, NM_001300994.1:c.215G>A, NM_001003396.3:c.215G>A, NM_001003396.2:c.215G>A, NM_001003396.1:c.215G>A, NM_001003397.3:c.215G>A, NM_001003397.2:c.215G>A, NM_001003397.1:c.215G>A, NM_001318903.2:c.215G>A, NM_001318903.1:c.215G>A, NM_001318907.2:c.128G>A, NM_001318907.1:c.128G>A, XM_017011239.2:c.128G>A, XM_017011239.1:c.128G>A, XM_047419286.1:c.128G>A, XM_047419287.1:c.128G>A, XM_047419288.1:c.215G>A, NP_003278.1:p.Gly72Asp, NP_001003395.1:p.Gly43Asp, NP_001278955.1:p.Gly43Asp, NP_001287923.1:p.Gly72Asp, NP_001003396.1:p.Gly72Asp, NP_001003397.1:p.Gly72Asp, NP_001305832.1:p.Gly72Asp, NP_001305836.1:p.Gly43Asp, XP_016866728.1:p.Gly43Asp, XP_047275242.1:p.Gly43Asp, XP_047275243.1:p.Gly43Asp, XP_047275244.1:p.Gly72Asp

Select item 14272824758.

rs1427282475 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCGCCATTCCAT>- [Show Flanks]
Chromosome:: 6:125253726 (GRCh38)
6:125574872 (GRCh37)
Canonical SPDI:: NC_000006.12:125253720:TCCATTCGCCATTCCAT:TCCAT
Gene:: TPD52L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.125253726_125253737del, NC_000006.11:g.125574872_125574883del, NG_029911.1:g.104994_105005del, NM_003287.4:c.396_407del, NM_003287.3:c.396_407del, NM_003287.2:c.396_407del, NM_001003395.3:c.309_320del, NM_001003395.2:c.309_320del, NM_001003395.1:c.309_320del, NM_001003396.3:c.396_407del, NM_001003396.2:c.396_407del, NM_001003396.1:c.396_407del, NM_001318903.2:c.411_422del, NM_001318903.1:c.411_422del, XM_017011239.2:c.309_320del, XM_017011239.1:c.309_320del, XM_047419286.1:c.309_320del, NP_003278.1:p.Arg133_Ile136del, NP_001003395.1:p.Arg104_Ile107del, NP_001003396.1:p.Arg133_Ile136del, NP_001305832.1:p.Arg138_Ile141del, XP_016866728.1:p.Arg104_Ile107del, XP_047275242.1:p.Arg104_Ile107del

Select item 14068084689.

rs1406808468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:125248341 (GRCh38)
6:125569487 (GRCh37)
Canonical SPDI:: NC_000006.12:125248340:G:A,NC_000006.12:125248340:G:C
Gene:: TPD52L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.125248341G>A, NC_000006.12:g.125248341G>C, NC_000006.11:g.125569487G>A, NC_000006.11:g.125569487G>C, NG_029911.1:g.99609G>A, NG_029911.1:g.99609G>C, NM_003287.4:c.344G>A, NM_003287.4:c.344G>C, NM_003287.3:c.344G>A, NM_003287.3:c.344G>C, NM_003287.2:c.344G>A, NM_003287.2:c.344G>C, NM_001003395.3:c.257G>A, NM_001003395.3:c.257G>C, NM_001003395.2:c.257G>A, NM_001003395.2:c.257G>C, NM_001003395.1:c.257G>A, NM_001003395.1:c.257G>C, NM_001292026.3:c.257G>A, NM_001292026.3:c.257G>C, NM_001292026.2:c.257G>A, NM_001292026.2:c.257G>C, NM_001292026.1:c.257G>A, NM_001292026.1:c.257G>C, NM_001300994.3:c.344G>A, NM_001300994.3:c.344G>C, NM_001300994.2:c.344G>A, NM_001300994.2:c.344G>C, NM_001300994.1:c.344G>A, NM_001300994.1:c.344G>C, NM_001003396.3:c.344G>A, NM_001003396.3:c.344G>C, NM_001003396.2:c.344G>A, NM_001003396.2:c.344G>C, NM_001003396.1:c.344G>A, NM_001003396.1:c.344G>C, NM_001003397.3:c.344G>A, NM_001003397.3:c.344G>C, NM_001003397.2:c.344G>A, NM_001003397.2:c.344G>C, NM_001003397.1:c.344G>A, NM_001003397.1:c.344G>C, NM_001318903.2:c.344G>A, NM_001318903.2:c.344G>C, NM_001318903.1:c.344G>A, NM_001318903.1:c.344G>C, NM_001318907.2:c.257G>A, NM_001318907.2:c.257G>C, NM_001318907.1:c.257G>A, NM_001318907.1:c.257G>C, XM_017011239.2:c.257G>A, XM_017011239.2:c.257G>C, XM_017011239.1:c.257G>A, XM_017011239.1:c.257G>C, XM_047419286.1:c.257G>A, XM_047419286.1:c.257G>C, XM_047419287.1:c.257G>A, XM_047419287.1:c.257G>C, XM_047419288.1:c.344G>A, XM_047419288.1:c.344G>C, NP_003278.1:p.Ser115Asn, NP_003278.1:p.Ser115Thr, NP_001003395.1:p.Ser86Asn, NP_001003395.1:p.Ser86Thr, NP_001278955.1:p.Ser86Asn, NP_001278955.1:p.Ser86Thr, NP_001287923.1:p.Ser115Asn, NP_001287923.1:p.Ser115Thr, NP_001003396.1:p.Ser115Asn, NP_001003396.1:p.Ser115Thr, NP_001003397.1:p.Ser115Asn, NP_001003397.1:p.Ser115Thr, NP_001305832.1:p.Ser115Asn, NP_001305832.1:p.Ser115Thr, NP_001305836.1:p.Ser86Asn, NP_001305836.1:p.Ser86Thr, XP_016866728.1:p.Ser86Asn, XP_016866728.1:p.Ser86Thr, XP_047275242.1:p.Ser86Asn, XP_047275242.1:p.Ser86Thr, XP_047275243.1:p.Ser86Asn, XP_047275243.1:p.Ser86Thr, XP_047275244.1:p.Ser115Asn, XP_047275244.1:p.Ser115Thr

Select item 140388108210.

rs1403881082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:125229130 (GRCh38)
6:125550276 (GRCh37)
Canonical SPDI:: NC_000006.12:125229129:A:G
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.125229130A>G, NC_000006.11:g.125550276A>G, NG_029911.1:g.80398A>G, NM_003287.4:c.148A>G, NM_003287.3:c.148A>G, NM_003287.2:c.148A>G, NM_001003395.3:c.61A>G, NM_001003395.2:c.61A>G, NM_001003395.1:c.61A>G, NM_001292026.3:c.61A>G, NM_001292026.2:c.61A>G, NM_001292026.1:c.61A>G, NM_001300994.3:c.148A>G, NM_001300994.2:c.148A>G, NM_001300994.1:c.148A>G, NM_001003396.3:c.148A>G, NM_001003396.2:c.148A>G, NM_001003396.1:c.148A>G, NM_001003397.3:c.148A>G, NM_001003397.2:c.148A>G, NM_001003397.1:c.148A>G, NM_001318903.2:c.148A>G, NM_001318903.1:c.148A>G, NM_001318907.2:c.61A>G, NM_001318907.1:c.61A>G, XM_017011239.2:c.61A>G, XM_017011239.1:c.61A>G, XM_047419286.1:c.61A>G, XM_047419287.1:c.61A>G, XM_047419288.1:c.148A>G, NP_003278.1:p.Ile50Val, NP_001003395.1:p.Ile21Val, NP_001278955.1:p.Ile21Val, NP_001287923.1:p.Ile50Val, NP_001003396.1:p.Ile50Val, NP_001003397.1:p.Ile50Val, NP_001305832.1:p.Ile50Val, NP_001305836.1:p.Ile21Val, XP_016866728.1:p.Ile21Val, XP_047275242.1:p.Ile21Val, XP_047275243.1:p.Ile21Val, XP_047275244.1:p.Ile50Val

Select item 140340999211.

rs1403409992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:125248358 (GRCh38)
6:125569504 (GRCh37)
Canonical SPDI:: NC_000006.12:125248357:A:G
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.125248358A>G, NC_000006.11:g.125569504A>G, NG_029911.1:g.99626A>G, NM_003287.4:c.361A>G, NM_003287.3:c.361A>G, NM_003287.2:c.361A>G, NM_001003395.3:c.274A>G, NM_001003395.2:c.274A>G, NM_001003395.1:c.274A>G, NM_001292026.3:c.274A>G, NM_001292026.2:c.274A>G, NM_001292026.1:c.274A>G, NM_001300994.3:c.361A>G, NM_001300994.2:c.361A>G, NM_001300994.1:c.361A>G, NM_001003396.3:c.361A>G, NM_001003396.2:c.361A>G, NM_001003396.1:c.361A>G, NM_001003397.3:c.361A>G, NM_001003397.2:c.361A>G, NM_001003397.1:c.361A>G, NM_001318903.2:c.361A>G, NM_001318903.1:c.361A>G, NM_001318907.2:c.274A>G, NM_001318907.1:c.274A>G, XM_017011239.2:c.274A>G, XM_017011239.1:c.274A>G, XM_047419286.1:c.274A>G, XM_047419287.1:c.274A>G, XM_047419288.1:c.361A>G, NP_003278.1:p.Ile121Val, NP_001003395.1:p.Ile92Val, NP_001278955.1:p.Ile92Val, NP_001287923.1:p.Ile121Val, NP_001003396.1:p.Ile121Val, NP_001003397.1:p.Ile121Val, NP_001305832.1:p.Ile121Val, NP_001305836.1:p.Ile92Val, XP_016866728.1:p.Ile92Val, XP_047275242.1:p.Ile92Val, XP_047275243.1:p.Ile92Val, XP_047275244.1:p.Ile121Val

Select item 139115753912.

rs1391157539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:125253735 (GRCh38)
6:125574881 (GRCh37)
Canonical SPDI:: NC_000006.12:125253734:C:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.125253735C>T, NC_000006.11:g.125574881C>T, NG_029911.1:g.105003C>T, NM_003287.4:c.405C>T, NM_003287.3:c.405C>T, NM_003287.2:c.405C>T, NM_001003395.3:c.318C>T, NM_001003395.2:c.318C>T, NM_001003395.1:c.318C>T, NM_001003396.3:c.405C>T, NM_001003396.2:c.405C>T, NM_001003396.1:c.405C>T, NM_001318903.2:c.420C>T, NM_001318903.1:c.420C>T, XM_017011239.2:c.318C>T, XM_017011239.1:c.318C>T, XM_047419286.1:c.318C>T

Select item 138617599513.

rs1386175995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:125220095 (GRCh38)
6:125541241 (GRCh37)
Canonical SPDI:: NC_000006.12:125220094:C:G
Gene:: TPD52L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.125220095C>G, NC_000006.11:g.125541241C>G, NG_029911.1:g.71363C>G, NM_003287.4:c.37C>G, NM_003287.3:c.37C>G, NM_003287.2:c.37C>G, NM_001003395.3:c.-51C>G, NM_001003395.2:c.-51C>G, NM_001003395.1:c.-51C>G, NM_001292026.3:c.-51C>G, NM_001292026.2:c.-51C>G, NM_001292026.1:c.-51C>G, NM_001300994.3:c.37C>G, NM_001300994.2:c.37C>G, NM_001300994.1:c.37C>G, NM_001003396.3:c.37C>G, NM_001003396.2:c.37C>G, NM_001003396.1:c.37C>G, NM_001003397.3:c.37C>G, NM_001003397.2:c.37C>G, NM_001003397.1:c.37C>G, NM_001318903.2:c.37C>G, NM_001318903.1:c.37C>G, NM_001318907.2:c.-51C>G, NM_001318907.1:c.-51C>G, XM_017011239.2:c.-51C>G, XM_017011239.1:c.-51C>G, XM_047419286.1:c.-51C>G, XM_047419287.1:c.-51C>G, XM_047419288.1:c.37C>G, NP_003278.1:p.Pro13Ala, NP_001287923.1:p.Pro13Ala, NP_001003396.1:p.Pro13Ala, NP_001003397.1:p.Pro13Ala, NP_001305832.1:p.Pro13Ala, XP_047275244.1:p.Pro13Ala

Select item 137118827514.

rs1371188275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:125229200 (GRCh38)
6:125550346 (GRCh37)
Canonical SPDI:: NC_000006.12:125229199:T:C
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.125229200T>C, NC_000006.11:g.125550346T>C, NG_029911.1:g.80468T>C, NM_003287.4:c.218T>C, NM_003287.3:c.218T>C, NM_003287.2:c.218T>C, NM_001003395.3:c.131T>C, NM_001003395.2:c.131T>C, NM_001003395.1:c.131T>C, NM_001292026.3:c.131T>C, NM_001292026.2:c.131T>C, NM_001292026.1:c.131T>C, NM_001300994.3:c.218T>C, NM_001300994.2:c.218T>C, NM_001300994.1:c.218T>C, NM_001003396.3:c.218T>C, NM_001003396.2:c.218T>C, NM_001003396.1:c.218T>C, NM_001003397.3:c.218T>C, NM_001003397.2:c.218T>C, NM_001003397.1:c.218T>C, NM_001318903.2:c.218T>C, NM_001318903.1:c.218T>C, NM_001318907.2:c.131T>C, NM_001318907.1:c.131T>C, XM_017011239.2:c.131T>C, XM_017011239.1:c.131T>C, XM_047419286.1:c.131T>C, XM_047419287.1:c.131T>C, XM_047419288.1:c.218T>C, NP_003278.1:p.Met73Thr, NP_001003395.1:p.Met44Thr, NP_001278955.1:p.Met44Thr, NP_001287923.1:p.Met73Thr, NP_001003396.1:p.Met73Thr, NP_001003397.1:p.Met73Thr, NP_001305832.1:p.Met73Thr, NP_001305836.1:p.Met44Thr, XP_016866728.1:p.Met44Thr, XP_047275242.1:p.Met44Thr, XP_047275243.1:p.Met44Thr, XP_047275244.1:p.Met73Thr

Select item 136961515715.

rs1369615157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:125220151 (GRCh38)
6:125541297 (GRCh37)
Canonical SPDI:: NC_000006.12:125220150:C:G,NC_000006.12:125220150:C:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.125220151C>G, NC_000006.12:g.125220151C>T, NC_000006.11:g.125541297C>G, NC_000006.11:g.125541297C>T, NG_029911.1:g.71419C>G, NG_029911.1:g.71419C>T, NM_003287.4:c.93C>G, NM_003287.4:c.93C>T, NM_003287.3:c.93C>G, NM_003287.3:c.93C>T, NM_003287.2:c.93C>G, NM_003287.2:c.93C>T, NM_001003395.3:c.6C>G, NM_001003395.3:c.6C>T, NM_001003395.2:c.6C>G, NM_001003395.2:c.6C>T, NM_001003395.1:c.6C>G, NM_001003395.1:c.6C>T, NM_001292026.3:c.6C>G, NM_001292026.3:c.6C>T, NM_001292026.2:c.6C>G, NM_001292026.2:c.6C>T, NM_001292026.1:c.6C>G, NM_001292026.1:c.6C>T, NM_001300994.3:c.93C>G, NM_001300994.3:c.93C>T, NM_001300994.2:c.93C>G, NM_001300994.2:c.93C>T, NM_001300994.1:c.93C>G, NM_001300994.1:c.93C>T, NM_001003396.3:c.93C>G, NM_001003396.3:c.93C>T, NM_001003396.2:c.93C>G, NM_001003396.2:c.93C>T, NM_001003396.1:c.93C>G, NM_001003396.1:c.93C>T, NM_001003397.3:c.93C>G, NM_001003397.3:c.93C>T, NM_001003397.2:c.93C>G, NM_001003397.2:c.93C>T, NM_001003397.1:c.93C>G, NM_001003397.1:c.93C>T, NM_001318903.2:c.93C>G, NM_001318903.2:c.93C>T, NM_001318903.1:c.93C>G, NM_001318903.1:c.93C>T, NM_001318907.2:c.6C>G, NM_001318907.2:c.6C>T, NM_001318907.1:c.6C>G, NM_001318907.1:c.6C>T, XM_017011239.2:c.6C>G, XM_017011239.2:c.6C>T, XM_017011239.1:c.6C>G, XM_017011239.1:c.6C>T, XM_047419286.1:c.6C>G, XM_047419286.1:c.6C>T, XM_047419287.1:c.6C>G, XM_047419287.1:c.6C>T, XM_047419288.1:c.93C>G, XM_047419288.1:c.93C>T

Select item 136201790616.

rs1362017906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:125248305 (GRCh38)
6:125569451 (GRCh37)
Canonical SPDI:: NC_000006.12:125248304:T:C
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.125248305T>C, NC_000006.11:g.125569451T>C, NG_029911.1:g.99573T>C, NM_003287.4:c.308T>C, NM_003287.3:c.308T>C, NM_003287.2:c.308T>C, NM_001003395.3:c.221T>C, NM_001003395.2:c.221T>C, NM_001003395.1:c.221T>C, NM_001292026.3:c.221T>C, NM_001292026.2:c.221T>C, NM_001292026.1:c.221T>C, NM_001300994.3:c.308T>C, NM_001300994.2:c.308T>C, NM_001300994.1:c.308T>C, NM_001003396.3:c.308T>C, NM_001003396.2:c.308T>C, NM_001003396.1:c.308T>C, NM_001003397.3:c.308T>C, NM_001003397.2:c.308T>C, NM_001003397.1:c.308T>C, NM_001318903.2:c.308T>C, NM_001318903.1:c.308T>C, NM_001318907.2:c.221T>C, NM_001318907.1:c.221T>C, XM_017011239.2:c.221T>C, XM_017011239.1:c.221T>C, XM_047419286.1:c.221T>C, XM_047419287.1:c.221T>C, XM_047419288.1:c.308T>C, NP_003278.1:p.Leu103Pro, NP_001003395.1:p.Leu74Pro, NP_001278955.1:p.Leu74Pro, NP_001287923.1:p.Leu103Pro, NP_001003396.1:p.Leu103Pro, NP_001003397.1:p.Leu103Pro, NP_001305832.1:p.Leu103Pro, NP_001305836.1:p.Leu74Pro, XP_016866728.1:p.Leu74Pro, XP_047275242.1:p.Leu74Pro, XP_047275243.1:p.Leu74Pro, XP_047275244.1:p.Leu103Pro

Select item 135990309917.

rs1359903099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:125253751 (GRCh38)
6:125574897 (GRCh37)
Canonical SPDI:: NC_000006.12:125253750:A:G,NC_000006.12:125253750:A:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.125253751A>G, NC_000006.12:g.125253751A>T, NC_000006.11:g.125574897A>G, NC_000006.11:g.125574897A>T, NG_029911.1:g.105019A>G, NG_029911.1:g.105019A>T, NM_003287.4:c.421A>G, NM_003287.4:c.421A>T, NM_003287.3:c.421A>G, NM_003287.3:c.421A>T, NM_003287.2:c.421A>G, NM_003287.2:c.421A>T, NM_001003395.3:c.334A>G, NM_001003395.3:c.334A>T, NM_001003395.2:c.334A>G, NM_001003395.2:c.334A>T, NM_001003395.1:c.334A>G, NM_001003395.1:c.334A>T, NM_001003396.3:c.421A>G, NM_001003396.3:c.421A>T, NM_001003396.2:c.421A>G, NM_001003396.2:c.421A>T, NM_001003396.1:c.421A>G, NM_001003396.1:c.421A>T, NM_001318903.2:c.436A>G, NM_001318903.2:c.436A>T, NM_001318903.1:c.436A>G, NM_001318903.1:c.436A>T, XM_017011239.2:c.334A>G, XM_017011239.2:c.334A>T, XM_017011239.1:c.334A>G, XM_017011239.1:c.334A>T, XM_047419286.1:c.334A>G, XM_047419286.1:c.334A>T, NP_003278.1:p.Met141Val, NP_003278.1:p.Met141Leu, NP_001003395.1:p.Met112Val, NP_001003395.1:p.Met112Leu, NP_001003396.1:p.Met141Val, NP_001003396.1:p.Met141Leu, NP_001305832.1:p.Met146Val, NP_001305832.1:p.Met146Leu, XP_016866728.1:p.Met112Val, XP_016866728.1:p.Met112Leu, XP_047275242.1:p.Met112Val, XP_047275242.1:p.Met112Leu

Select item 135335823618.

rs1353358236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:125229252 (GRCh38)
6:125550398 (GRCh37)
Canonical SPDI:: NC_000006.12:125229251:G:A
Gene:: TPD52L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.125229252G>A, NC_000006.11:g.125550398G>A, NG_029911.1:g.80520G>A, NM_003287.4:c.270G>A, NM_003287.3:c.270G>A, NM_003287.2:c.270G>A, NM_001003395.3:c.183G>A, NM_001003395.2:c.183G>A, NM_001003395.1:c.183G>A, NM_001292026.3:c.183G>A, NM_001292026.2:c.183G>A, NM_001292026.1:c.183G>A, NM_001300994.3:c.270G>A, NM_001300994.2:c.270G>A, NM_001300994.1:c.270G>A, NM_001003396.3:c.270G>A, NM_001003396.2:c.270G>A, NM_001003396.1:c.270G>A, NM_001003397.3:c.270G>A, NM_001003397.2:c.270G>A, NM_001003397.1:c.270G>A, NM_001318903.2:c.270G>A, NM_001318903.1:c.270G>A, NM_001318907.2:c.183G>A, NM_001318907.1:c.183G>A, XM_017011239.2:c.183G>A, XM_017011239.1:c.183G>A, XM_047419286.1:c.183G>A, XM_047419287.1:c.183G>A, XM_047419288.1:c.270G>A, NP_003278.1:p.Met90Ile, NP_001003395.1:p.Met61Ile, NP_001278955.1:p.Met61Ile, NP_001287923.1:p.Met90Ile, NP_001003396.1:p.Met90Ile, NP_001003397.1:p.Met90Ile, NP_001305832.1:p.Met90Ile, NP_001305836.1:p.Met61Ile, XP_016866728.1:p.Met61Ile, XP_047275242.1:p.Met61Ile, XP_047275243.1:p.Met61Ile, XP_047275244.1:p.Met90Ile

Select item 134079840119.

rs1340798401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:125229235 (GRCh38)
6:125550381 (GRCh37)
Canonical SPDI:: NC_000006.12:125229234:A:C
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.125229235A>C, NC_000006.11:g.125550381A>C, NG_029911.1:g.80503A>C, NM_003287.4:c.253A>C, NM_003287.3:c.253A>C, NM_003287.2:c.253A>C, NM_001003395.3:c.166A>C, NM_001003395.2:c.166A>C, NM_001003395.1:c.166A>C, NM_001292026.3:c.166A>C, NM_001292026.2:c.166A>C, NM_001292026.1:c.166A>C, NM_001300994.3:c.253A>C, NM_001300994.2:c.253A>C, NM_001300994.1:c.253A>C, NM_001003396.3:c.253A>C, NM_001003396.2:c.253A>C, NM_001003396.1:c.253A>C, NM_001003397.3:c.253A>C, NM_001003397.2:c.253A>C, NM_001003397.1:c.253A>C, NM_001318903.2:c.253A>C, NM_001318903.1:c.253A>C, NM_001318907.2:c.166A>C, NM_001318907.1:c.166A>C, XM_017011239.2:c.166A>C, XM_017011239.1:c.166A>C, XM_047419286.1:c.166A>C, XM_047419287.1:c.166A>C, XM_047419288.1:c.253A>C, NP_003278.1:p.Lys85Gln, NP_001003395.1:p.Lys56Gln, NP_001278955.1:p.Lys56Gln, NP_001287923.1:p.Lys85Gln, NP_001003396.1:p.Lys85Gln, NP_001003397.1:p.Lys85Gln, NP_001305832.1:p.Lys85Gln, NP_001305836.1:p.Lys56Gln, XP_016866728.1:p.Lys56Gln, XP_047275242.1:p.Lys56Gln, XP_047275243.1:p.Lys56Gln, XP_047275244.1:p.Lys85Gln

Select item 132628682120.

rs1326286821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:125229260 (GRCh38)
6:125550406 (GRCh37)
Canonical SPDI:: NC_000006.12:125229259:C:A
Gene:: TPD52L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.125229260C>A, NC_000006.11:g.125550406C>A, NG_029911.1:g.80528C>A, NM_003287.4:c.278C>A, NM_003287.3:c.278C>A, NM_003287.2:c.278C>A, NM_001003395.3:c.191C>A, NM_001003395.2:c.191C>A, NM_001003395.1:c.191C>A, NM_001292026.3:c.191C>A, NM_001292026.2:c.191C>A, NM_001292026.1:c.191C>A, NM_001300994.3:c.278C>A, NM_001300994.2:c.278C>A, NM_001300994.1:c.278C>A, NM_001003396.3:c.278C>A, NM_001003396.2:c.278C>A, NM_001003396.1:c.278C>A, NM_001003397.3:c.278C>A, NM_001003397.2:c.278C>A, NM_001003397.1:c.278C>A, NM_001318903.2:c.278C>A, NM_001318903.1:c.278C>A, NM_001318907.2:c.191C>A, NM_001318907.1:c.191C>A, XM_017011239.2:c.191C>A, XM_017011239.1:c.191C>A, XM_047419286.1:c.191C>A, XM_047419287.1:c.191C>A, XM_047419288.1:c.278C>A, NP_003278.1:p.Thr93Asn, NP_001003395.1:p.Thr64Asn, NP_001278955.1:p.Thr64Asn, NP_001287923.1:p.Thr93Asn, NP_001003396.1:p.Thr93Asn, NP_001003397.1:p.Thr93Asn, NP_001305832.1:p.Thr93Asn, NP_001305836.1:p.Thr64Asn, XP_016866728.1:p.Thr64Asn, XP_047275242.1:p.Thr64Asn, XP_047275243.1:p.Thr64Asn, XP_047275244.1:p.Thr93Asn

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