SNP Links for Protein (Select 747165331) - SNP

Links from Protein

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Select item 14902345811.

rs1490234581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:5155515 (GRCh38)
17:5058810 (GRCh37)
Canonical SPDI:: NC_000017.11:5155514:A:T
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5155515A>T, NC_000017.10:g.5058810A>T, NM_004505.4:c.2737A>T, NM_004505.3:c.2737A>T, NM_004505.2:c.2737A>T, XM_011524053.3:c.2737A>T, XM_011524053.2:c.2737A>T, XM_011524053.1:c.2737A>T, XM_011524051.3:c.2737A>T, XM_011524051.2:c.2737A>T, XM_011524051.1:c.2737A>T, XM_011524054.3:c.2737A>T, XM_011524054.2:c.2737A>T, XM_011524054.1:c.2737A>T, XM_011524055.3:c.2737A>T, XM_011524055.2:c.2737A>T, XM_011524055.1:c.2737A>T, XM_011524052.3:c.2737A>T, XM_011524052.2:c.2737A>T, XM_011524052.1:c.2737A>T, XM_011524056.3:c.2737A>T, XM_011524056.2:c.2737A>T, XM_011524056.1:c.2737A>T, XM_011524058.3:c.2737A>T, XM_011524058.2:c.2737A>T, XM_011524058.1:c.2737A>T, XM_011524050.2:c.2737A>T, XM_011524050.1:c.2737A>T, NM_001304284.2:c.2737A>T, NM_001304284.1:c.2737A>T, XM_047437018.1:c.2671A>T, NM_001039674.1:c.2737A>T, NP_004496.2:p.Lys913Ter, XP_011522355.1:p.Lys913Ter, XP_011522353.1:p.Lys913Ter, XP_011522356.1:p.Lys913Ter, XP_011522357.1:p.Lys913Ter, XP_011522354.1:p.Lys913Ter, XP_011522358.1:p.Lys913Ter, XP_011522360.1:p.Lys913Ter, XP_011522352.1:p.Lys913Ter, NP_001291213.1:p.Lys913Ter, XP_047292974.1:p.Lys891Ter

Select item 14897901032.

rs1489790103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5141449 (GRCh38)
17:5044744 (GRCh37)
Canonical SPDI:: NC_000017.11:5141448:C:T
Gene:: USP6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5141449C>T, NC_000017.10:g.5044744C>T, NM_004505.4:c.1523C>T, NM_004505.3:c.1523C>T, NM_004505.2:c.1523C>T, XM_011524053.3:c.1523C>T, XM_011524053.2:c.1523C>T, XM_011524053.1:c.1523C>T, XM_011524051.3:c.1523C>T, XM_011524051.2:c.1523C>T, XM_011524051.1:c.1523C>T, XM_011524054.3:c.1523C>T, XM_011524054.2:c.1523C>T, XM_011524054.1:c.1523C>T, XM_011524055.3:c.1523C>T, XM_011524055.2:c.1523C>T, XM_011524055.1:c.1523C>T, XM_011524052.3:c.1523C>T, XM_011524052.2:c.1523C>T, XM_011524052.1:c.1523C>T, XM_011524056.3:c.1523C>T, XM_011524056.2:c.1523C>T, XM_011524056.1:c.1523C>T, XM_011524058.3:c.1523C>T, XM_011524058.2:c.1523C>T, XM_011524058.1:c.1523C>T, XM_011524059.3:c.1523C>T, XM_011524059.2:c.1523C>T, XM_011524059.1:c.1523C>T, XM_011524050.2:c.1523C>T, XM_011524050.1:c.1523C>T, NM_001304284.2:c.1523C>T, NM_001304284.1:c.1523C>T, XM_047437018.1:c.1457C>T, NM_001039674.1:c.1523C>T, NP_004496.2:p.Pro508Leu, XP_011522355.1:p.Pro508Leu, XP_011522353.1:p.Pro508Leu, XP_011522356.1:p.Pro508Leu, XP_011522357.1:p.Pro508Leu, XP_011522354.1:p.Pro508Leu, XP_011522358.1:p.Pro508Leu, XP_011522360.1:p.Pro508Leu, XP_011522361.1:p.Pro508Leu, XP_011522352.1:p.Pro508Leu, NP_001291213.1:p.Pro508Leu, XP_047292974.1:p.Pro486Leu

Select item 14895018583.

rs1489501858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5170702 (GRCh38)
17:5073997 (GRCh37)
Canonical SPDI:: NC_000017.11:5170701:T:C
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.5170702T>C, NC_000017.10:g.5073997T>C, NM_004505.4:c.3741T>C, NM_004505.3:c.3741T>C, NM_004505.2:c.3741T>C, XM_011524053.3:c.3741T>C, XM_011524053.2:c.3741T>C, XM_011524053.1:c.3741T>C, XM_011524051.3:c.3741T>C, XM_011524051.2:c.3741T>C, XM_011524051.1:c.3741T>C, XM_011524054.3:c.3741T>C, XM_011524054.2:c.3741T>C, XM_011524054.1:c.3741T>C, XM_011524055.3:c.3741T>C, XM_011524055.2:c.3741T>C, XM_011524055.1:c.3741T>C, XM_011524052.3:c.3741T>C, XM_011524052.2:c.3741T>C, XM_011524052.1:c.3741T>C, XM_011524056.3:c.3741T>C, XM_011524056.2:c.3741T>C, XM_011524056.1:c.3741T>C, XM_011524050.2:c.3741T>C, XM_011524050.1:c.3741T>C, NM_001304284.2:c.3741T>C, NM_001304284.1:c.3741T>C, XM_047437018.1:c.3675T>C, NM_001039674.1:c.3741T>C

Select item 14878022274.

rs1487802227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5139484 (GRCh38)
17:5042779 (GRCh37)
Canonical SPDI:: NC_000017.11:5139483:C:T
Gene:: USP6 (Varview)
Functional Consequence:: synonymous_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_000017.11:g.5139484C>T, NC_000017.10:g.5042779C>T, NM_004505.4:c.1308C>T, NM_004505.3:c.1308C>T, NM_004505.2:c.1308C>T, XM_011524053.3:c.1308C>T, XM_011524053.2:c.1308C>T, XM_011524053.1:c.1308C>T, XM_011524051.3:c.1308C>T, XM_011524051.2:c.1308C>T, XM_011524051.1:c.1308C>T, XM_011524054.3:c.1308C>T, XM_011524054.2:c.1308C>T, XM_011524054.1:c.1308C>T, XM_011524055.3:c.1308C>T, XM_011524055.2:c.1308C>T, XM_011524055.1:c.1308C>T, XM_011524052.3:c.1308C>T, XM_011524052.2:c.1308C>T, XM_011524052.1:c.1308C>T, XM_011524056.3:c.1308C>T, XM_011524056.2:c.1308C>T, XM_011524056.1:c.1308C>T, XM_011524058.3:c.1308C>T, XM_011524058.2:c.1308C>T, XM_011524058.1:c.1308C>T, XM_011524059.3:c.1308C>T, XM_011524059.2:c.1308C>T, XM_011524059.1:c.1308C>T, XM_011524050.2:c.1308C>T, XM_011524050.1:c.1308C>T, NM_001304284.2:c.1308C>T, NM_001304284.1:c.1308C>T, XM_047437018.1:c.1242C>T, NM_001039674.1:c.1308C>T

Select item 14875859385.

rs1487585938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5139280 (GRCh38)
17:5042575 (GRCh37)
Canonical SPDI:: NC_000017.11:5139279:A:G
Gene:: USP6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000012/3 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.5139280A>G, NC_000017.10:g.5042575A>G, NM_004505.4:c.1104A>G, NM_004505.3:c.1104A>G, NM_004505.2:c.1104A>G, XM_011524053.3:c.1104A>G, XM_011524053.2:c.1104A>G, XM_011524053.1:c.1104A>G, XM_011524051.3:c.1104A>G, XM_011524051.2:c.1104A>G, XM_011524051.1:c.1104A>G, XM_011524054.3:c.1104A>G, XM_011524054.2:c.1104A>G, XM_011524054.1:c.1104A>G, XM_011524055.3:c.1104A>G, XM_011524055.2:c.1104A>G, XM_011524055.1:c.1104A>G, XM_011524052.3:c.1104A>G, XM_011524052.2:c.1104A>G, XM_011524052.1:c.1104A>G, XM_011524056.3:c.1104A>G, XM_011524056.2:c.1104A>G, XM_011524056.1:c.1104A>G, XM_011524058.3:c.1104A>G, XM_011524058.2:c.1104A>G, XM_011524058.1:c.1104A>G, XM_011524059.3:c.1104A>G, XM_011524059.2:c.1104A>G, XM_011524059.1:c.1104A>G, XM_011524050.2:c.1104A>G, XM_011524050.1:c.1104A>G, NM_001304284.2:c.1104A>G, NM_001304284.1:c.1104A>G, XM_047437018.1:c.1038A>G, NM_001039674.1:c.1104A>G

Select item 14874306696.

rs1487430669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5145449 (GRCh38)
17:5048744 (GRCh37)
Canonical SPDI:: NC_000017.11:5145448:T:C
Gene:: USP6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5145449T>C, NC_000017.10:g.5048744T>C, NM_004505.4:c.2037T>C, NM_004505.3:c.2037T>C, NM_004505.2:c.2037T>C, XM_011524053.3:c.2037T>C, XM_011524053.2:c.2037T>C, XM_011524053.1:c.2037T>C, XM_011524051.3:c.2037T>C, XM_011524051.2:c.2037T>C, XM_011524051.1:c.2037T>C, XM_011524054.3:c.2037T>C, XM_011524054.2:c.2037T>C, XM_011524054.1:c.2037T>C, XM_011524055.3:c.2037T>C, XM_011524055.2:c.2037T>C, XM_011524055.1:c.2037T>C, XM_011524052.3:c.2037T>C, XM_011524052.2:c.2037T>C, XM_011524052.1:c.2037T>C, XM_011524056.3:c.2037T>C, XM_011524056.2:c.2037T>C, XM_011524056.1:c.2037T>C, XM_011524058.3:c.2037T>C, XM_011524058.2:c.2037T>C, XM_011524058.1:c.2037T>C, XM_011524059.3:c.2037T>C, XM_011524059.2:c.2037T>C, XM_011524059.1:c.2037T>C, XM_011524050.2:c.2037T>C, XM_011524050.1:c.2037T>C, NM_001304284.2:c.2037T>C, NM_001304284.1:c.2037T>C, XM_047437018.1:c.1971T>C, NM_001039674.1:c.2037T>C

Select item 14870473807.

rs1487047380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:5170731 (GRCh38)
17:5074026 (GRCh37)
Canonical SPDI:: NC_000017.11:5170730:T:A
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5170731T>A, NC_000017.10:g.5074026T>A, NM_004505.4:c.3770T>A, NM_004505.3:c.3770T>A, NM_004505.2:c.3770T>A, XM_011524053.3:c.3770T>A, XM_011524053.2:c.3770T>A, XM_011524053.1:c.3770T>A, XM_011524051.3:c.3770T>A, XM_011524051.2:c.3770T>A, XM_011524051.1:c.3770T>A, XM_011524054.3:c.3770T>A, XM_011524054.2:c.3770T>A, XM_011524054.1:c.3770T>A, XM_011524055.3:c.3770T>A, XM_011524055.2:c.3770T>A, XM_011524055.1:c.3770T>A, XM_011524052.3:c.3770T>A, XM_011524052.2:c.3770T>A, XM_011524052.1:c.3770T>A, XM_011524056.3:c.3770T>A, XM_011524056.2:c.3770T>A, XM_011524056.1:c.3770T>A, XM_011524050.2:c.3770T>A, XM_011524050.1:c.3770T>A, NM_001304284.2:c.3770T>A, NM_001304284.1:c.3770T>A, XM_047437018.1:c.3704T>A, NM_001039674.1:c.3770T>A, NP_004496.2:p.Val1257Asp, XP_011522355.1:p.Val1257Asp, XP_011522353.1:p.Val1257Asp, XP_011522356.1:p.Val1257Asp, XP_011522357.1:p.Val1257Asp, XP_011522354.1:p.Val1257Asp, XP_011522358.1:p.Val1257Asp, XP_011522352.1:p.Val1257Asp, NP_001291213.1:p.Val1257Asp, XP_047292974.1:p.Val1235Asp

Select item 14870423588.

rs1487042358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5133502 (GRCh38)
17:5036797 (GRCh37)
Canonical SPDI:: NC_000017.11:5133501:C:T
Gene:: USP6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.5133502C>T, NC_000017.10:g.5036797C>T, NM_004505.4:c.336C>T, NM_004505.3:c.336C>T, NM_004505.2:c.336C>T, XM_011524053.3:c.336C>T, XM_011524053.2:c.336C>T, XM_011524053.1:c.336C>T, XM_011524051.3:c.336C>T, XM_011524051.2:c.336C>T, XM_011524051.1:c.336C>T, XM_011524054.3:c.336C>T, XM_011524054.2:c.336C>T, XM_011524054.1:c.336C>T, XM_011524055.3:c.336C>T, XM_011524055.2:c.336C>T, XM_011524055.1:c.336C>T, XM_011524052.3:c.336C>T, XM_011524052.2:c.336C>T, XM_011524052.1:c.336C>T, XM_011524056.3:c.336C>T, XM_011524056.2:c.336C>T, XM_011524056.1:c.336C>T, XM_011524058.3:c.336C>T, XM_011524058.2:c.336C>T, XM_011524058.1:c.336C>T, XM_011524059.3:c.336C>T, XM_011524059.2:c.336C>T, XM_011524059.1:c.336C>T, XM_011524050.2:c.336C>T, XM_011524050.1:c.336C>T, NM_001304284.2:c.336C>T, NM_001304284.1:c.336C>T, XM_047437018.1:c.336C>T, NM_001039674.1:c.336C>T

Select item 14863276779.

rs1486327677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5171640 (GRCh38)
17:5074935 (GRCh37)
Canonical SPDI:: NC_000017.11:5171639:A:G
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5171640A>G, NC_000017.10:g.5074935A>G, NM_004505.4:c.4008A>G, NM_004505.3:c.4008A>G, NM_004505.2:c.4008A>G, XM_011524053.3:c.4008A>G, XM_011524053.2:c.4008A>G, XM_011524053.1:c.4008A>G, XM_011524051.3:c.4008A>G, XM_011524051.2:c.4008A>G, XM_011524051.1:c.4008A>G, XM_011524054.3:c.4008A>G, XM_011524054.2:c.4008A>G, XM_011524054.1:c.4008A>G, XM_011524055.3:c.4008A>G, XM_011524055.2:c.4008A>G, XM_011524055.1:c.4008A>G, XM_011524052.3:c.4008A>G, XM_011524052.2:c.4008A>G, XM_011524052.1:c.4008A>G, XM_011524056.3:c.4008A>G, XM_011524056.2:c.4008A>G, XM_011524056.1:c.4008A>G, XM_011524050.2:c.4008A>G, XM_011524050.1:c.4008A>G, NM_001304284.2:c.4008A>G, NM_001304284.1:c.4008A>G, XM_047437018.1:c.3942A>G, NM_001039674.1:c.4008A>G

Select item 148563092310.

rs1485630923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5138160 (GRCh38)
17:5041455 (GRCh37)
Canonical SPDI:: NC_000017.11:5138159:G:A
Gene:: USP6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.5138160G>A, NC_000017.10:g.5041455G>A, NM_004505.4:c.965G>A, NM_004505.3:c.965G>A, NM_004505.2:c.965G>A, XM_011524053.3:c.965G>A, XM_011524053.2:c.965G>A, XM_011524053.1:c.965G>A, XM_011524051.3:c.965G>A, XM_011524051.2:c.965G>A, XM_011524051.1:c.965G>A, XM_011524054.3:c.965G>A, XM_011524054.2:c.965G>A, XM_011524054.1:c.965G>A, XM_011524055.3:c.965G>A, XM_011524055.2:c.965G>A, XM_011524055.1:c.965G>A, XM_011524052.3:c.965G>A, XM_011524052.2:c.965G>A, XM_011524052.1:c.965G>A, XM_011524056.3:c.965G>A, XM_011524056.2:c.965G>A, XM_011524056.1:c.965G>A, XM_011524058.3:c.965G>A, XM_011524058.2:c.965G>A, XM_011524058.1:c.965G>A, XM_011524059.3:c.965G>A, XM_011524059.2:c.965G>A, XM_011524059.1:c.965G>A, XM_011524050.2:c.965G>A, XM_011524050.1:c.965G>A, NM_001304284.2:c.965G>A, NM_001304284.1:c.965G>A, XM_047437018.1:c.899G>A, NM_001039674.1:c.965G>A, NP_004496.2:p.Arg322His, XP_011522355.1:p.Arg322His, XP_011522353.1:p.Arg322His, XP_011522356.1:p.Arg322His, XP_011522357.1:p.Arg322His, XP_011522354.1:p.Arg322His, XP_011522358.1:p.Arg322His, XP_011522360.1:p.Arg322His, XP_011522361.1:p.Arg322His, XP_011522352.1:p.Arg322His, NP_001291213.1:p.Arg322His, XP_047292974.1:p.Arg300His

Select item 148556871911.

rs1485568719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:5139288 (GRCh38)
17:5042583 (GRCh37)
Canonical SPDI:: NC_000017.11:5139287:C:G
Gene:: USP6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5139288C>G, NC_000017.10:g.5042583C>G, NM_004505.4:c.1112C>G, NM_004505.3:c.1112C>G, NM_004505.2:c.1112C>G, XM_011524053.3:c.1112C>G, XM_011524053.2:c.1112C>G, XM_011524053.1:c.1112C>G, XM_011524051.3:c.1112C>G, XM_011524051.2:c.1112C>G, XM_011524051.1:c.1112C>G, XM_011524054.3:c.1112C>G, XM_011524054.2:c.1112C>G, XM_011524054.1:c.1112C>G, XM_011524055.3:c.1112C>G, XM_011524055.2:c.1112C>G, XM_011524055.1:c.1112C>G, XM_011524052.3:c.1112C>G, XM_011524052.2:c.1112C>G, XM_011524052.1:c.1112C>G, XM_011524056.3:c.1112C>G, XM_011524056.2:c.1112C>G, XM_011524056.1:c.1112C>G, XM_011524058.3:c.1112C>G, XM_011524058.2:c.1112C>G, XM_011524058.1:c.1112C>G, XM_011524059.3:c.1112C>G, XM_011524059.2:c.1112C>G, XM_011524059.1:c.1112C>G, XM_011524050.2:c.1112C>G, XM_011524050.1:c.1112C>G, NM_001304284.2:c.1112C>G, NM_001304284.1:c.1112C>G, XM_047437018.1:c.1046C>G, NM_001039674.1:c.1112C>G, NP_004496.2:p.Pro371Arg, XP_011522355.1:p.Pro371Arg, XP_011522353.1:p.Pro371Arg, XP_011522356.1:p.Pro371Arg, XP_011522357.1:p.Pro371Arg, XP_011522354.1:p.Pro371Arg, XP_011522358.1:p.Pro371Arg, XP_011522360.1:p.Pro371Arg, XP_011522361.1:p.Pro371Arg, XP_011522352.1:p.Pro371Arg, NP_001291213.1:p.Pro371Arg, XP_047292974.1:p.Pro349Arg

Select item 148417397012.

rs1484173970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5130663 (GRCh38)
17:5033958 (GRCh37)
Canonical SPDI:: NC_000017.11:5130662:T:C
Gene:: USP6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.5130663T>C, NC_000017.10:g.5033958T>C, NM_004505.4:c.134T>C, NM_004505.3:c.134T>C, NM_004505.2:c.134T>C, XM_011524053.3:c.134T>C, XM_011524053.2:c.134T>C, XM_011524053.1:c.134T>C, XM_011524051.3:c.134T>C, XM_011524051.2:c.134T>C, XM_011524051.1:c.134T>C, XM_011524054.3:c.134T>C, XM_011524054.2:c.134T>C, XM_011524054.1:c.134T>C, XM_011524055.3:c.134T>C, XM_011524055.2:c.134T>C, XM_011524055.1:c.134T>C, XM_011524052.3:c.134T>C, XM_011524052.2:c.134T>C, XM_011524052.1:c.134T>C, XM_011524056.3:c.134T>C, XM_011524056.2:c.134T>C, XM_011524056.1:c.134T>C, XM_011524058.3:c.134T>C, XM_011524058.2:c.134T>C, XM_011524058.1:c.134T>C, XM_011524059.3:c.134T>C, XM_011524059.2:c.134T>C, XM_011524059.1:c.134T>C, XM_011524050.2:c.134T>C, XM_011524050.1:c.134T>C, NM_001304284.2:c.134T>C, NM_001304284.1:c.134T>C, XM_047437018.1:c.134T>C, NM_001039674.1:c.134T>C, NP_004496.2:p.Ile45Thr, XP_011522355.1:p.Ile45Thr, XP_011522353.1:p.Ile45Thr, XP_011522356.1:p.Ile45Thr, XP_011522357.1:p.Ile45Thr, XP_011522354.1:p.Ile45Thr, XP_011522358.1:p.Ile45Thr, XP_011522360.1:p.Ile45Thr, XP_011522361.1:p.Ile45Thr, XP_011522352.1:p.Ile45Thr, NP_001291213.1:p.Ile45Thr, XP_047292974.1:p.Ile45Thr

Select item 148392270713.

rs1483922707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:5155443 (GRCh38)
17:5058738 (GRCh37)
Canonical SPDI:: NC_000017.11:5155442:C:G
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.5155443C>G, NC_000017.10:g.5058738C>G, NM_004505.4:c.2665C>G, NM_004505.3:c.2665C>G, NM_004505.2:c.2665C>G, XM_011524053.3:c.2665C>G, XM_011524053.2:c.2665C>G, XM_011524053.1:c.2665C>G, XM_011524051.3:c.2665C>G, XM_011524051.2:c.2665C>G, XM_011524051.1:c.2665C>G, XM_011524054.3:c.2665C>G, XM_011524054.2:c.2665C>G, XM_011524054.1:c.2665C>G, XM_011524055.3:c.2665C>G, XM_011524055.2:c.2665C>G, XM_011524055.1:c.2665C>G, XM_011524052.3:c.2665C>G, XM_011524052.2:c.2665C>G, XM_011524052.1:c.2665C>G, XM_011524056.3:c.2665C>G, XM_011524056.2:c.2665C>G, XM_011524056.1:c.2665C>G, XM_011524058.3:c.2665C>G, XM_011524058.2:c.2665C>G, XM_011524058.1:c.2665C>G, XM_011524050.2:c.2665C>G, XM_011524050.1:c.2665C>G, NM_001304284.2:c.2665C>G, NM_001304284.1:c.2665C>G, XM_047437018.1:c.2599C>G, NM_001039674.1:c.2665C>G, NP_004496.2:p.Leu889Val, XP_011522355.1:p.Leu889Val, XP_011522353.1:p.Leu889Val, XP_011522356.1:p.Leu889Val, XP_011522357.1:p.Leu889Val, XP_011522354.1:p.Leu889Val, XP_011522358.1:p.Leu889Val, XP_011522360.1:p.Leu889Val, XP_011522352.1:p.Leu889Val, NP_001291213.1:p.Leu889Val, XP_047292974.1:p.Leu867Val

Select item 148238546414.

rs1482385464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:5139635 (GRCh38)
17:5042930 (GRCh37)
Canonical SPDI:: NC_000017.11:5139634:C:A,NC_000017.11:5139634:C:T
Gene:: USP6 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5139635C>A, NC_000017.11:g.5139635C>T, NC_000017.10:g.5042930C>A, NC_000017.10:g.5042930C>T, NM_004505.4:c.1459C>A, NM_004505.4:c.1459C>T, NM_004505.3:c.1459C>A, NM_004505.3:c.1459C>T, NM_004505.2:c.1459C>A, NM_004505.2:c.1459C>T, XM_011524053.3:c.1459C>A, XM_011524053.3:c.1459C>T, XM_011524053.2:c.1459C>A, XM_011524053.2:c.1459C>T, XM_011524053.1:c.1459C>A, XM_011524053.1:c.1459C>T, XM_011524051.3:c.1459C>A, XM_011524051.3:c.1459C>T, XM_011524051.2:c.1459C>A, XM_011524051.2:c.1459C>T, XM_011524051.1:c.1459C>A, XM_011524051.1:c.1459C>T, XM_011524054.3:c.1459C>A, XM_011524054.3:c.1459C>T, XM_011524054.2:c.1459C>A, XM_011524054.2:c.1459C>T, XM_011524054.1:c.1459C>A, XM_011524054.1:c.1459C>T, XM_011524055.3:c.1459C>A, XM_011524055.3:c.1459C>T, XM_011524055.2:c.1459C>A, XM_011524055.2:c.1459C>T, XM_011524055.1:c.1459C>A, XM_011524055.1:c.1459C>T, XM_011524052.3:c.1459C>A, XM_011524052.3:c.1459C>T, XM_011524052.2:c.1459C>A, XM_011524052.2:c.1459C>T, XM_011524052.1:c.1459C>A, XM_011524052.1:c.1459C>T, XM_011524056.3:c.1459C>A, XM_011524056.3:c.1459C>T, XM_011524056.2:c.1459C>A, XM_011524056.2:c.1459C>T, XM_011524056.1:c.1459C>A, XM_011524056.1:c.1459C>T, XM_011524058.3:c.1459C>A, XM_011524058.3:c.1459C>T, XM_011524058.2:c.1459C>A, XM_011524058.2:c.1459C>T, XM_011524058.1:c.1459C>A, XM_011524058.1:c.1459C>T, XM_011524059.3:c.1459C>A, XM_011524059.3:c.1459C>T, XM_011524059.2:c.1459C>A, XM_011524059.2:c.1459C>T, XM_011524059.1:c.1459C>A, XM_011524059.1:c.1459C>T, XM_011524050.2:c.1459C>A, XM_011524050.2:c.1459C>T, XM_011524050.1:c.1459C>A, XM_011524050.1:c.1459C>T, NM_001304284.2:c.1459C>A, NM_001304284.2:c.1459C>T, NM_001304284.1:c.1459C>A, NM_001304284.1:c.1459C>T, XM_047437018.1:c.1393C>A, XM_047437018.1:c.1393C>T, NM_001039674.1:c.1459C>A, NM_001039674.1:c.1459C>T, NP_004496.2:p.Gln487Lys, NP_004496.2:p.Gln487Ter, XP_011522355.1:p.Gln487Lys, XP_011522355.1:p.Gln487Ter, XP_011522353.1:p.Gln487Lys, XP_011522353.1:p.Gln487Ter, XP_011522356.1:p.Gln487Lys, XP_011522356.1:p.Gln487Ter, XP_011522357.1:p.Gln487Lys, XP_011522357.1:p.Gln487Ter, XP_011522354.1:p.Gln487Lys, XP_011522354.1:p.Gln487Ter, XP_011522358.1:p.Gln487Lys, XP_011522358.1:p.Gln487Ter, XP_011522360.1:p.Gln487Lys, XP_011522360.1:p.Gln487Ter, XP_011522361.1:p.Gln487Lys, XP_011522361.1:p.Gln487Ter, XP_011522352.1:p.Gln487Lys, XP_011522352.1:p.Gln487Ter, NP_001291213.1:p.Gln487Lys, NP_001291213.1:p.Gln487Ter, XP_047292974.1:p.Gln465Lys, XP_047292974.1:p.Gln465Ter

Select item 148148306215.

rs1481483062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5135919 (GRCh38)
17:5039214 (GRCh37)
Canonical SPDI:: NC_000017.11:5135918:T:C
Gene:: USP6 (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_000017.11:g.5135919T>C, NC_000017.10:g.5039214T>C, NM_004505.4:c.655T>C, NM_004505.3:c.655T>C, NM_004505.2:c.655T>C, XM_011524053.3:c.655T>C, XM_011524053.2:c.655T>C, XM_011524053.1:c.655T>C, XM_011524051.3:c.655T>C, XM_011524051.2:c.655T>C, XM_011524051.1:c.655T>C, XM_011524054.3:c.655T>C, XM_011524054.2:c.655T>C, XM_011524054.1:c.655T>C, XM_011524055.3:c.655T>C, XM_011524055.2:c.655T>C, XM_011524055.1:c.655T>C, XM_011524052.3:c.655T>C, XM_011524052.2:c.655T>C, XM_011524052.1:c.655T>C, XM_011524056.3:c.655T>C, XM_011524056.2:c.655T>C, XM_011524056.1:c.655T>C, XM_011524058.3:c.655T>C, XM_011524058.2:c.655T>C, XM_011524058.1:c.655T>C, XM_011524059.3:c.655T>C, XM_011524059.2:c.655T>C, XM_011524059.1:c.655T>C, XM_011524050.2:c.655T>C, XM_011524050.1:c.655T>C, NM_001304284.2:c.655T>C, NM_001304284.1:c.655T>C, XM_047437018.1:c.655T>C, NM_001039674.1:c.655T>C, NP_004496.2:p.Ser219Pro, XP_011522355.1:p.Ser219Pro, XP_011522353.1:p.Ser219Pro, XP_011522356.1:p.Ser219Pro, XP_011522357.1:p.Ser219Pro, XP_011522354.1:p.Ser219Pro, XP_011522358.1:p.Ser219Pro, XP_011522360.1:p.Ser219Pro, XP_011522361.1:p.Ser219Pro, XP_011522352.1:p.Ser219Pro, NP_001291213.1:p.Ser219Pro, XP_047292974.1:p.Ser219Pro

Select item 148078892316.

rs1480788923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:5146040 (GRCh38)
17:5049335 (GRCh37)
Canonical SPDI:: NC_000017.11:5146039:A:T
Gene:: USP6 (Varview)
Functional Consequence:: coding_sequence_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_000017.11:g.5146040A>T, NC_000017.10:g.5049335A>T, NM_004505.4:c.2185A>T, NM_004505.3:c.2185A>T, NM_004505.2:c.2185A>T, XM_011524053.3:c.2185A>T, XM_011524053.2:c.2185A>T, XM_011524053.1:c.2185A>T, XM_011524051.3:c.2185A>T, XM_011524051.2:c.2185A>T, XM_011524051.1:c.2185A>T, XM_011524054.3:c.2185A>T, XM_011524054.2:c.2185A>T, XM_011524054.1:c.2185A>T, XM_011524055.3:c.2185A>T, XM_011524055.2:c.2185A>T, XM_011524055.1:c.2185A>T, XM_011524052.3:c.2185A>T, XM_011524052.2:c.2185A>T, XM_011524052.1:c.2185A>T, XM_011524056.3:c.2185A>T, XM_011524056.2:c.2185A>T, XM_011524056.1:c.2185A>T, XM_011524058.3:c.2185A>T, XM_011524058.2:c.2185A>T, XM_011524058.1:c.2185A>T, XM_011524059.3:c.2185A>T, XM_011524059.2:c.2185A>T, XM_011524059.1:c.2185A>T, XM_011524050.2:c.2185A>T, XM_011524050.1:c.2185A>T, NM_001304284.2:c.2185A>T, NM_001304284.1:c.2185A>T, XM_047437018.1:c.2119A>T, NM_001039674.1:c.2185A>T, NP_004496.2:p.Thr729Ser, XP_011522355.1:p.Thr729Ser, XP_011522353.1:p.Thr729Ser, XP_011522356.1:p.Thr729Ser, XP_011522357.1:p.Thr729Ser, XP_011522354.1:p.Thr729Ser, XP_011522358.1:p.Thr729Ser, XP_011522360.1:p.Thr729Ser, XP_011522361.1:p.Thr729Ser, XP_011522352.1:p.Thr729Ser, NP_001291213.1:p.Thr729Ser, XP_047292974.1:p.Thr707Ser

Select item 148052047017.

rs1480520470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:5161572 (GRCh38)
17:5064867 (GRCh37)
Canonical SPDI:: NC_000017.11:5161571:T:A
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5161572T>A, NC_000017.10:g.5064867T>A, NM_004505.4:c.2873T>A, NM_004505.3:c.2873T>A, NM_004505.2:c.2873T>A, XM_011524053.3:c.2873T>A, XM_011524053.2:c.2873T>A, XM_011524053.1:c.2873T>A, XM_011524051.3:c.2873T>A, XM_011524051.2:c.2873T>A, XM_011524051.1:c.2873T>A, XM_011524054.3:c.2873T>A, XM_011524054.2:c.2873T>A, XM_011524054.1:c.2873T>A, XM_011524055.3:c.2873T>A, XM_011524055.2:c.2873T>A, XM_011524055.1:c.2873T>A, XM_011524052.3:c.2873T>A, XM_011524052.2:c.2873T>A, XM_011524052.1:c.2873T>A, XM_011524056.3:c.2873T>A, XM_011524056.2:c.2873T>A, XM_011524056.1:c.2873T>A, XM_011524058.3:c.2873T>A, XM_011524058.2:c.2873T>A, XM_011524058.1:c.2873T>A, XM_011524050.2:c.2873T>A, XM_011524050.1:c.2873T>A, NM_001304284.2:c.2873T>A, NM_001304284.1:c.2873T>A, XM_047437018.1:c.2807T>A, NM_001039674.1:c.2873T>A, NP_004496.2:p.Val958Glu, XP_011522355.1:p.Val958Glu, XP_011522353.1:p.Val958Glu, XP_011522356.1:p.Val958Glu, XP_011522357.1:p.Val958Glu, XP_011522354.1:p.Val958Glu, XP_011522358.1:p.Val958Glu, XP_011522360.1:p.Val958Glu, XP_011522352.1:p.Val958Glu, NP_001291213.1:p.Val958Glu, XP_047292974.1:p.Val936Glu

Select item 148020436918.

rs1480204369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5146029 (GRCh38)
17:5049324 (GRCh37)
Canonical SPDI:: NC_000017.11:5146028:A:G
Gene:: USP6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5146029A>G, NC_000017.10:g.5049324A>G, NM_004505.4:c.2174A>G, NM_004505.3:c.2174A>G, NM_004505.2:c.2174A>G, XM_011524053.3:c.2174A>G, XM_011524053.2:c.2174A>G, XM_011524053.1:c.2174A>G, XM_011524051.3:c.2174A>G, XM_011524051.2:c.2174A>G, XM_011524051.1:c.2174A>G, XM_011524054.3:c.2174A>G, XM_011524054.2:c.2174A>G, XM_011524054.1:c.2174A>G, XM_011524055.3:c.2174A>G, XM_011524055.2:c.2174A>G, XM_011524055.1:c.2174A>G, XM_011524052.3:c.2174A>G, XM_011524052.2:c.2174A>G, XM_011524052.1:c.2174A>G, XM_011524056.3:c.2174A>G, XM_011524056.2:c.2174A>G, XM_011524056.1:c.2174A>G, XM_011524058.3:c.2174A>G, XM_011524058.2:c.2174A>G, XM_011524058.1:c.2174A>G, XM_011524059.3:c.2174A>G, XM_011524059.2:c.2174A>G, XM_011524059.1:c.2174A>G, XM_011524050.2:c.2174A>G, XM_011524050.1:c.2174A>G, NM_001304284.2:c.2174A>G, NM_001304284.1:c.2174A>G, XM_047437018.1:c.2108A>G, NM_001039674.1:c.2174A>G, NP_004496.2:p.Lys725Arg, XP_011522355.1:p.Lys725Arg, XP_011522353.1:p.Lys725Arg, XP_011522356.1:p.Lys725Arg, XP_011522357.1:p.Lys725Arg, XP_011522354.1:p.Lys725Arg, XP_011522358.1:p.Lys725Arg, XP_011522360.1:p.Lys725Arg, XP_011522361.1:p.Lys725Arg, XP_011522352.1:p.Lys725Arg, NP_001291213.1:p.Lys725Arg, XP_047292974.1:p.Lys703Arg

Select item 147923440619.

rs1479234406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5168778 (GRCh38)
17:5072073 (GRCh37)
Canonical SPDI:: NC_000017.11:5168777:T:C
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_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_000017.11:g.5168778T>C, NC_000017.10:g.5072073T>C, NM_004505.4:c.3240T>C, NM_004505.3:c.3240T>C, NM_004505.2:c.3240T>C, XM_011524053.3:c.3240T>C, XM_011524053.2:c.3240T>C, XM_011524053.1:c.3240T>C, XM_011524051.3:c.3240T>C, XM_011524051.2:c.3240T>C, XM_011524051.1:c.3240T>C, XM_011524054.3:c.3240T>C, XM_011524054.2:c.3240T>C, XM_011524054.1:c.3240T>C, XM_011524055.3:c.3240T>C, XM_011524055.2:c.3240T>C, XM_011524055.1:c.3240T>C, XM_011524052.3:c.3240T>C, XM_011524052.2:c.3240T>C, XM_011524052.1:c.3240T>C, XM_011524056.3:c.3240T>C, XM_011524056.2:c.3240T>C, XM_011524056.1:c.3240T>C, XM_011524050.2:c.3240T>C, XM_011524050.1:c.3240T>C, NM_001304284.2:c.3240T>C, NM_001304284.1:c.3240T>C, XM_047437018.1:c.3174T>C, NM_001039674.1:c.3240T>C

Select item 147862180620.

rs1478621806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5155469 (GRCh38)
17:5058764 (GRCh37)
Canonical SPDI:: NC_000017.11:5155468:C:T
Gene:: USP6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/2 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.5155469C>T, NC_000017.10:g.5058764C>T, NM_004505.4:c.2691C>T, NM_004505.3:c.2691C>T, NM_004505.2:c.2691C>T, XM_011524053.3:c.2691C>T, XM_011524053.2:c.2691C>T, XM_011524053.1:c.2691C>T, XM_011524051.3:c.2691C>T, XM_011524051.2:c.2691C>T, XM_011524051.1:c.2691C>T, XM_011524054.3:c.2691C>T, XM_011524054.2:c.2691C>T, XM_011524054.1:c.2691C>T, XM_011524055.3:c.2691C>T, XM_011524055.2:c.2691C>T, XM_011524055.1:c.2691C>T, XM_011524052.3:c.2691C>T, XM_011524052.2:c.2691C>T, XM_011524052.1:c.2691C>T, XM_011524056.3:c.2691C>T, XM_011524056.2:c.2691C>T, XM_011524056.1:c.2691C>T, XM_011524058.3:c.2691C>T, XM_011524058.2:c.2691C>T, XM_011524058.1:c.2691C>T, XM_011524050.2:c.2691C>T, XM_011524050.1:c.2691C>T, NM_001304284.2:c.2691C>T, NM_001304284.1:c.2691C>T, XM_047437018.1:c.2625C>T, NM_001039674.1:c.2691C>T

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