SNP Links for Protein (Select 767996213) -

Links from Protein

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Select item 14903754371.

rs1490375437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60255233 (GRCh38)
17:58332594 (GRCh37)
Canonical SPDI:: NC_000017.11:60255232:T:C
Gene:: USP32 (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=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.60255233T>C, NC_000017.10:g.58332594T>C, NM_032582.4:c.1016A>G, NM_032582.3:c.1016A>G, XM_011525379.4:c.143A>G, XM_011525379.3:c.143A>G, XM_011525379.2:c.143A>G, XM_011525379.1:c.143A>G, XM_011525375.2:c.986A>G, XM_011525375.1:c.986A>G, XM_011525373.2:c.1016A>G, XM_011525373.1:c.1016A>G, XM_011525378.2:c.878A>G, XM_011525378.1:c.878A>G, XM_017025233.2:c.878A>G, XM_017025233.1:c.878A>G, XM_011525371.2:c.1064A>G, XM_011525371.1:c.1064A>G, XM_011525372.2:c.1064A>G, XM_011525372.1:c.1064A>G, XM_011525374.2:c.1007A>G, XM_011525374.1:c.1007A>G, XM_011525376.2:c.1007A>G, XM_011525376.1:c.1007A>G, XM_047436943.1:c.986A>G, XM_047436944.1:c.671A>G, XM_047436945.1:c.101A>G, NP_115971.2:p.Tyr339Cys, XP_011523681.1:p.Tyr48Cys, XP_011523677.1:p.Tyr329Cys, XP_011523675.1:p.Tyr339Cys, XP_011523680.1:p.Tyr293Cys, XP_016880722.1:p.Tyr293Cys, XP_011523673.1:p.Tyr355Cys, XP_011523674.1:p.Tyr355Cys, XP_011523676.1:p.Tyr336Cys, XP_011523678.1:p.Tyr336Cys, XP_047292899.1:p.Tyr329Cys, XP_047292900.1:p.Tyr224Cys, XP_047292901.1:p.Tyr34Cys

Select item 14890733092.

rs1489073309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:60271467 (GRCh38)
17:58348828 (GRCh37)
Canonical SPDI:: NC_000017.11:60271466:T:C,NC_000017.11:60271466:T:G
Gene:: USP32 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.60271467T>C, NC_000017.11:g.60271467T>G, NC_000017.10:g.58348828T>C, NC_000017.10:g.58348828T>G, NM_032582.4:c.586A>G, NM_032582.4:c.586A>C, NM_032582.3:c.586A>G, NM_032582.3:c.586A>C, XM_011525379.4:c.-288A>G, XM_011525379.4:c.-288A>C, XM_011525379.3:c.-288A>G, XM_011525379.3:c.-288A>C, XM_011525379.2:c.-288A>G, XM_011525379.2:c.-288A>C, XM_011525379.1:c.-288A>G, XM_011525379.1:c.-288A>C, XM_011525375.2:c.556A>G, XM_011525375.2:c.556A>C, XM_011525375.1:c.556A>G, XM_011525375.1:c.556A>C, XM_011525373.2:c.586A>G, XM_011525373.2:c.586A>C, XM_011525373.1:c.586A>G, XM_011525373.1:c.586A>C, XM_011525378.2:c.448A>G, XM_011525378.2:c.448A>C, XM_011525378.1:c.448A>G, XM_011525378.1:c.448A>C, XM_017025233.2:c.448A>G, XM_017025233.2:c.448A>C, XM_017025233.1:c.448A>G, XM_017025233.1:c.448A>C, XM_011525371.2:c.634A>G, XM_011525371.2:c.634A>C, XM_011525371.1:c.634A>G, XM_011525371.1:c.634A>C, XM_011525372.2:c.634A>G, XM_011525372.2:c.634A>C, XM_011525372.1:c.634A>G, XM_011525372.1:c.634A>C, XM_011525374.2:c.577A>G, XM_011525374.2:c.577A>C, XM_011525374.1:c.577A>G, XM_011525374.1:c.577A>C, XM_011525376.2:c.577A>G, XM_011525376.2:c.577A>C, XM_011525376.1:c.577A>G, XM_011525376.1:c.577A>C, XM_047436943.1:c.556A>G, XM_047436943.1:c.556A>C, XM_047436944.1:c.241A>G, XM_047436944.1:c.241A>C, NP_115971.2:p.Ile196Val, NP_115971.2:p.Ile196Leu, XP_011523677.1:p.Ile186Val, XP_011523677.1:p.Ile186Leu, XP_011523675.1:p.Ile196Val, XP_011523675.1:p.Ile196Leu, XP_011523680.1:p.Ile150Val, XP_011523680.1:p.Ile150Leu, XP_016880722.1:p.Ile150Val, XP_016880722.1:p.Ile150Leu, XP_011523673.1:p.Ile212Val, XP_011523673.1:p.Ile212Leu, XP_011523674.1:p.Ile212Val, XP_011523674.1:p.Ile212Leu, XP_011523676.1:p.Ile193Val, XP_011523676.1:p.Ile193Leu, XP_011523678.1:p.Ile193Val, XP_011523678.1:p.Ile193Leu, XP_047292899.1:p.Ile186Val, XP_047292899.1:p.Ile186Leu, XP_047292900.1:p.Ile81Val, XP_047292900.1:p.Ile81Leu

Select item 14884000793.

rs1488400079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:60183415 (GRCh38)
17:58260776 (GRCh37)
Canonical SPDI:: NC_000017.11:60183414:C:T
Gene:: USP32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.60183415C>T, NC_000017.10:g.58260776C>T, NM_032582.4:c.3873G>A, NM_032582.3:c.3873G>A, XM_011525379.4:c.3042G>A, XM_011525379.3:c.3042G>A, XM_011525379.2:c.3042G>A, XM_011525379.1:c.3042G>A, XM_011525375.2:c.3885G>A, XM_011525375.1:c.3885G>A, XM_011525373.2:c.3915G>A, XM_011525373.1:c.3915G>A, XM_011525378.2:c.3777G>A, XM_011525378.1:c.3777G>A, XM_017025233.2:c.3735G>A, XM_017025233.1:c.3735G>A, XM_011525371.2:c.3963G>A, XM_011525371.1:c.3963G>A, XM_011525372.2:c.3921G>A, XM_011525372.1:c.3921G>A, XM_011525374.2:c.3906G>A, XM_011525374.1:c.3906G>A, XM_011525376.2:c.3864G>A, XM_011525376.1:c.3864G>A, XM_047436943.1:c.3843G>A, XM_047436944.1:c.3570G>A, XM_047436945.1:c.2958G>A

Select item 14877759964.

rs1487775996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:60288616 (GRCh38)
17:58365977 (GRCh37)
Canonical SPDI:: NC_000017.11:60288615:A:G
Gene:: USP32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.60288616A>G, NC_000017.10:g.58365977A>G, NM_032582.4:c.478T>C, NM_032582.3:c.478T>C, XM_011525375.2:c.448T>C, XM_011525375.1:c.448T>C, XM_011525373.2:c.478T>C, XM_011525373.1:c.478T>C, XM_011525378.2:c.340T>C, XM_011525378.1:c.340T>C, XM_017025233.2:c.340T>C, XM_017025233.1:c.340T>C, XM_011525371.2:c.526T>C, XM_011525371.1:c.526T>C, XM_011525372.2:c.526T>C, XM_011525372.1:c.526T>C, XM_011525374.2:c.469T>C, XM_011525374.1:c.469T>C, XM_011525376.2:c.469T>C, XM_011525376.1:c.469T>C, XM_047436943.1:c.448T>C, XM_047436944.1:c.133T>C, NP_115971.2:p.Ser160Pro, XP_011523677.1:p.Ser150Pro, XP_011523675.1:p.Ser160Pro, XP_011523680.1:p.Ser114Pro, XP_016880722.1:p.Ser114Pro, XP_011523673.1:p.Ser176Pro, XP_011523674.1:p.Ser176Pro, XP_011523676.1:p.Ser157Pro, XP_011523678.1:p.Ser157Pro, XP_047292899.1:p.Ser150Pro, XP_047292900.1:p.Ser45Pro

Select item 14877568875.

rs1487756887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:60209433 (GRCh38)
17:58286794 (GRCh37)
Canonical SPDI:: NC_000017.11:60209432:A:G
Gene:: USP32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.60209433A>G, NC_000017.10:g.58286794A>G, NM_032582.4:c.2535T>C, NM_032582.3:c.2535T>C, XM_011525379.4:c.1704T>C, XM_011525379.3:c.1704T>C, XM_011525379.2:c.1704T>C, XM_011525379.1:c.1704T>C, XM_011525375.2:c.2547T>C, XM_011525375.1:c.2547T>C, XM_011525373.2:c.2577T>C, XM_011525373.1:c.2577T>C, XM_011525378.2:c.2439T>C, XM_011525378.1:c.2439T>C, XM_017025233.2:c.2397T>C, XM_017025233.1:c.2397T>C, XM_011525371.2:c.2625T>C, XM_011525371.1:c.2625T>C, XM_011525372.2:c.2583T>C, XM_011525372.1:c.2583T>C, XM_011525374.2:c.2568T>C, XM_011525374.1:c.2568T>C, XM_011525376.2:c.2526T>C, XM_011525376.1:c.2526T>C, XM_047436943.1:c.2505T>C, XM_047436944.1:c.2232T>C, XM_047436945.1:c.1620T>C

Select item 14854143506.

rs1485414350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:60181509 (GRCh38)
17:58258870 (GRCh37)
Canonical SPDI:: NC_000017.11:60181508:G:C
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60181509G>C, NC_000017.10:g.58258870G>C, NM_032582.4:c.4363C>G, NM_032582.3:c.4363C>G, XM_011525379.4:c.3532C>G, XM_011525379.3:c.3532C>G, XM_011525379.2:c.3532C>G, XM_011525379.1:c.3532C>G, XM_011525375.2:c.4375C>G, XM_011525375.1:c.4375C>G, XM_011525373.2:c.4405C>G, XM_011525373.1:c.4405C>G, XM_011525378.2:c.4267C>G, XM_011525378.1:c.4267C>G, XM_017025233.2:c.4225C>G, XM_017025233.1:c.4225C>G, XM_011525371.2:c.4453C>G, XM_011525371.1:c.4453C>G, XM_011525372.2:c.4411C>G, XM_011525372.1:c.4411C>G, XM_011525374.2:c.4396C>G, XM_011525374.1:c.4396C>G, XM_011525376.2:c.4354C>G, XM_011525376.1:c.4354C>G, XM_047436943.1:c.4333C>G, XM_047436944.1:c.4060C>G, XM_047436945.1:c.3448C>G, NP_115971.2:p.Gln1455Glu, XP_011523681.1:p.Gln1178Glu, XP_011523677.1:p.Gln1459Glu, XP_011523675.1:p.Gln1469Glu, XP_011523680.1:p.Gln1423Glu, XP_016880722.1:p.Gln1409Glu, XP_011523673.1:p.Gln1485Glu, XP_011523674.1:p.Gln1471Glu, XP_011523676.1:p.Gln1466Glu, XP_011523678.1:p.Gln1452Glu, XP_047292899.1:p.Gln1445Glu, XP_047292900.1:p.Gln1354Glu, XP_047292901.1:p.Gln1150Glu

Select item 14844387297.

rs1484438729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60345548 (GRCh38)
17:58422909 (GRCh37)
Canonical SPDI:: NC_000017.11:60345547:T:C
Gene:: USP32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60345548T>C, NC_000017.10:g.58422909T>C, NM_032582.4:c.119A>G, NM_032582.3:c.119A>G, XM_011525375.2:c.89A>G, XM_011525375.1:c.89A>G, XM_011525373.2:c.119A>G, XM_011525373.1:c.119A>G, XM_011525371.2:c.167A>G, XM_011525371.1:c.167A>G, XM_011525372.2:c.167A>G, XM_011525372.1:c.167A>G, XM_011525374.2:c.110A>G, XM_011525374.1:c.110A>G, XM_011525376.2:c.110A>G, XM_011525376.1:c.110A>G, XM_047436943.1:c.89A>G, NP_115971.2:p.Tyr40Cys, XP_011523677.1:p.Tyr30Cys, XP_011523675.1:p.Tyr40Cys, XP_011523673.1:p.Tyr56Cys, XP_011523674.1:p.Tyr56Cys, XP_011523676.1:p.Tyr37Cys, XP_011523678.1:p.Tyr37Cys, XP_047292899.1:p.Tyr30Cys

Select item 14828997038.

rs1482899703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60181745 (GRCh38)
17:58259106 (GRCh37)
Canonical SPDI:: NC_000017.11:60181744:G:A
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.60181745G>A, NC_000017.10:g.58259106G>A, NM_032582.4:c.4127C>T, NM_032582.3:c.4127C>T, XM_011525379.4:c.3296C>T, XM_011525379.3:c.3296C>T, XM_011525379.2:c.3296C>T, XM_011525379.1:c.3296C>T, XM_011525375.2:c.4139C>T, XM_011525375.1:c.4139C>T, XM_011525373.2:c.4169C>T, XM_011525373.1:c.4169C>T, XM_011525378.2:c.4031C>T, XM_011525378.1:c.4031C>T, XM_017025233.2:c.3989C>T, XM_017025233.1:c.3989C>T, XM_011525371.2:c.4217C>T, XM_011525371.1:c.4217C>T, XM_011525372.2:c.4175C>T, XM_011525372.1:c.4175C>T, XM_011525374.2:c.4160C>T, XM_011525374.1:c.4160C>T, XM_011525376.2:c.4118C>T, XM_011525376.1:c.4118C>T, XM_047436943.1:c.4097C>T, XM_047436944.1:c.3824C>T, XM_047436945.1:c.3212C>T, NP_115971.2:p.Ser1376Phe, XP_011523681.1:p.Ser1099Phe, XP_011523677.1:p.Ser1380Phe, XP_011523675.1:p.Ser1390Phe, XP_011523680.1:p.Ser1344Phe, XP_016880722.1:p.Ser1330Phe, XP_011523673.1:p.Ser1406Phe, XP_011523674.1:p.Ser1392Phe, XP_011523676.1:p.Ser1387Phe, XP_011523678.1:p.Ser1373Phe, XP_047292899.1:p.Ser1366Phe, XP_047292900.1:p.Ser1275Phe, XP_047292901.1:p.Ser1071Phe

Select item 14824852119.

rs1482485211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:60190563 (GRCh38)
17:58267924 (GRCh37)
Canonical SPDI:: NC_000017.11:60190562:C:A,NC_000017.11:60190562:C:T
Gene:: USP32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.60190563C>A, NC_000017.11:g.60190563C>T, NC_000017.10:g.58267924C>A, NC_000017.10:g.58267924C>T, NM_032582.4:c.3642G>T, NM_032582.4:c.3642G>A, NM_032582.3:c.3642G>T, NM_032582.3:c.3642G>A, XM_011525379.4:c.2811G>T, XM_011525379.4:c.2811G>A, XM_011525379.3:c.2811G>T, XM_011525379.3:c.2811G>A, XM_011525379.2:c.2811G>T, XM_011525379.2:c.2811G>A, XM_011525379.1:c.2811G>T, XM_011525379.1:c.2811G>A, XM_011525375.2:c.3654G>T, XM_011525375.2:c.3654G>A, XM_011525375.1:c.3654G>T, XM_011525375.1:c.3654G>A, XM_011525373.2:c.3684G>T, XM_011525373.2:c.3684G>A, XM_011525373.1:c.3684G>T, XM_011525373.1:c.3684G>A, XM_011525378.2:c.3546G>T, XM_011525378.2:c.3546G>A, XM_011525378.1:c.3546G>T, XM_011525378.1:c.3546G>A, XM_017025233.2:c.3504G>T, XM_017025233.2:c.3504G>A, XM_017025233.1:c.3504G>T, XM_017025233.1:c.3504G>A, XM_011525371.2:c.3732G>T, XM_011525371.2:c.3732G>A, XM_011525371.1:c.3732G>T, XM_011525371.1:c.3732G>A, XM_011525372.2:c.3690G>T, XM_011525372.2:c.3690G>A, XM_011525372.1:c.3690G>T, XM_011525372.1:c.3690G>A, XM_011525374.2:c.3675G>T, XM_011525374.2:c.3675G>A, XM_011525374.1:c.3675G>T, XM_011525374.1:c.3675G>A, XM_011525376.2:c.3633G>T, XM_011525376.2:c.3633G>A, XM_011525376.1:c.3633G>T, XM_011525376.1:c.3633G>A, XM_047436943.1:c.3612G>T, XM_047436943.1:c.3612G>A, XM_047436944.1:c.3339G>T, XM_047436944.1:c.3339G>A, XM_047436945.1:c.2727G>T, XM_047436945.1:c.2727G>A, NP_115971.2:p.Arg1214Ser, XP_011523681.1:p.Arg937Ser, XP_011523677.1:p.Arg1218Ser, XP_011523675.1:p.Arg1228Ser, XP_011523680.1:p.Arg1182Ser, XP_016880722.1:p.Arg1168Ser, XP_011523673.1:p.Arg1244Ser, XP_011523674.1:p.Arg1230Ser, XP_011523676.1:p.Arg1225Ser, XP_011523678.1:p.Arg1211Ser, XP_047292899.1:p.Arg1204Ser, XP_047292900.1:p.Arg1113Ser, XP_047292901.1:p.Arg909Ser

Select item 148187349610.

rs1481873496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:60205589 (GRCh38)
17:58282950 (GRCh37)
Canonical SPDI:: NC_000017.11:60205588:A:G
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60205589A>G, NC_000017.10:g.58282950A>G, NM_032582.4:c.3107T>C, NM_032582.3:c.3107T>C, XM_011525379.4:c.2276T>C, XM_011525379.3:c.2276T>C, XM_011525379.2:c.2276T>C, XM_011525379.1:c.2276T>C, XM_011525375.2:c.3119T>C, XM_011525375.1:c.3119T>C, XM_011525373.2:c.3149T>C, XM_011525373.1:c.3149T>C, XM_011525378.2:c.3011T>C, XM_011525378.1:c.3011T>C, XM_017025233.2:c.2969T>C, XM_017025233.1:c.2969T>C, XM_011525371.2:c.3197T>C, XM_011525371.1:c.3197T>C, XM_011525372.2:c.3155T>C, XM_011525372.1:c.3155T>C, XM_011525374.2:c.3140T>C, XM_011525374.1:c.3140T>C, XM_011525376.2:c.3098T>C, XM_011525376.1:c.3098T>C, XM_047436943.1:c.3077T>C, XM_047436944.1:c.2804T>C, XM_047436945.1:c.2192T>C, NP_115971.2:p.Ile1036Thr, XP_011523681.1:p.Ile759Thr, XP_011523677.1:p.Ile1040Thr, XP_011523675.1:p.Ile1050Thr, XP_011523680.1:p.Ile1004Thr, XP_016880722.1:p.Ile990Thr, XP_011523673.1:p.Ile1066Thr, XP_011523674.1:p.Ile1052Thr, XP_011523676.1:p.Ile1047Thr, XP_011523678.1:p.Ile1033Thr, XP_047292899.1:p.Ile1026Thr, XP_047292900.1:p.Ile935Thr, XP_047292901.1:p.Ile731Thr

Select item 148022339611.

rs1480223396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60214771 (GRCh38)
17:58292132 (GRCh37)
Canonical SPDI:: NC_000017.11:60214770:T:C
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.60214771T>C, NC_000017.10:g.58292132T>C, NM_032582.4:c.1871A>G, NM_032582.3:c.1871A>G, XM_011525379.4:c.1040A>G, XM_011525379.3:c.1040A>G, XM_011525379.2:c.1040A>G, XM_011525379.1:c.1040A>G, XM_011525375.2:c.1883A>G, XM_011525375.1:c.1883A>G, XM_011525373.2:c.1913A>G, XM_011525373.1:c.1913A>G, XM_011525378.2:c.1775A>G, XM_011525378.1:c.1775A>G, XM_017025233.2:c.1733A>G, XM_017025233.1:c.1733A>G, XM_011525371.2:c.1961A>G, XM_011525371.1:c.1961A>G, XM_011525372.2:c.1919A>G, XM_011525372.1:c.1919A>G, XM_011525374.2:c.1904A>G, XM_011525374.1:c.1904A>G, XM_011525376.2:c.1862A>G, XM_011525376.1:c.1862A>G, XM_047436943.1:c.1841A>G, XM_047436944.1:c.1568A>G, XM_047436945.1:c.956A>G, NP_115971.2:p.Asn624Ser, XP_011523681.1:p.Asn347Ser, XP_011523677.1:p.Asn628Ser, XP_011523675.1:p.Asn638Ser, XP_011523680.1:p.Asn592Ser, XP_016880722.1:p.Asn578Ser, XP_011523673.1:p.Asn654Ser, XP_011523674.1:p.Asn640Ser, XP_011523676.1:p.Asn635Ser, XP_011523678.1:p.Asn621Ser, XP_047292899.1:p.Asn614Ser, XP_047292900.1:p.Asn523Ser, XP_047292901.1:p.Asn319Ser

Select item 147993333512.

rs1479933335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60211417 (GRCh38)
17:58288778 (GRCh37)
Canonical SPDI:: NC_000017.11:60211416:T:C
Gene:: USP32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60211417T>C, NC_000017.10:g.58288778T>C, NM_032582.4:c.2277A>G, NM_032582.3:c.2277A>G, XM_011525379.4:c.1446A>G, XM_011525379.3:c.1446A>G, XM_011525379.2:c.1446A>G, XM_011525379.1:c.1446A>G, XM_011525375.2:c.2289A>G, XM_011525375.1:c.2289A>G, XM_011525373.2:c.2319A>G, XM_011525373.1:c.2319A>G, XM_011525378.2:c.2181A>G, XM_011525378.1:c.2181A>G, XM_017025233.2:c.2139A>G, XM_017025233.1:c.2139A>G, XM_011525371.2:c.2367A>G, XM_011525371.1:c.2367A>G, XM_011525372.2:c.2325A>G, XM_011525372.1:c.2325A>G, XM_011525374.2:c.2310A>G, XM_011525374.1:c.2310A>G, XM_011525376.2:c.2268A>G, XM_011525376.1:c.2268A>G, XM_047436943.1:c.2247A>G, XM_047436944.1:c.1974A>G, XM_047436945.1:c.1362A>G

Select item 147950695513.

rs1479506955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60223459 (GRCh38)
17:58300820 (GRCh37)
Canonical SPDI:: NC_000017.11:60223458:T:C
Gene:: USP32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60223459T>C, NC_000017.10:g.58300820T>C, NM_032582.4:c.1560A>G, NM_032582.3:c.1560A>G, XM_011525379.4:c.687A>G, XM_011525379.3:c.687A>G, XM_011525379.2:c.687A>G, XM_011525379.1:c.687A>G, XM_011525375.2:c.1530A>G, XM_011525375.1:c.1530A>G, XM_011525373.2:c.1560A>G, XM_011525373.1:c.1560A>G, XM_011525378.2:c.1422A>G, XM_011525378.1:c.1422A>G, XM_017025233.2:c.1422A>G, XM_017025233.1:c.1422A>G, XM_011525371.2:c.1608A>G, XM_011525371.1:c.1608A>G, XM_011525372.2:c.1608A>G, XM_011525372.1:c.1608A>G, XM_011525374.2:c.1551A>G, XM_011525374.1:c.1551A>G, XM_011525376.2:c.1551A>G, XM_011525376.1:c.1551A>G, XM_047436943.1:c.1530A>G, XM_047436944.1:c.1215A>G, XM_047436945.1:c.645A>G

Select item 147947573114.

rs1479475731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:60236161 (GRCh38)
17:58313522 (GRCh37)
Canonical SPDI:: NC_000017.11:60236160:G:C
Gene:: USP32 (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=0.000029/4 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.60236161G>C, NC_000017.10:g.58313522G>C, NM_032582.4:c.1216C>G, NM_032582.3:c.1216C>G, XM_011525379.4:c.343C>G, XM_011525379.3:c.343C>G, XM_011525379.2:c.343C>G, XM_011525379.1:c.343C>G, XM_011525375.2:c.1186C>G, XM_011525375.1:c.1186C>G, XM_011525373.2:c.1216C>G, XM_011525373.1:c.1216C>G, XM_011525378.2:c.1078C>G, XM_011525378.1:c.1078C>G, XM_017025233.2:c.1078C>G, XM_017025233.1:c.1078C>G, XM_011525371.2:c.1264C>G, XM_011525371.1:c.1264C>G, XM_011525372.2:c.1264C>G, XM_011525372.1:c.1264C>G, XM_011525374.2:c.1207C>G, XM_011525374.1:c.1207C>G, XM_011525376.2:c.1207C>G, XM_011525376.1:c.1207C>G, XM_047436943.1:c.1186C>G, XM_047436944.1:c.871C>G, XM_047436945.1:c.301C>G, NP_115971.2:p.Gln406Glu, XP_011523681.1:p.Gln115Glu, XP_011523677.1:p.Gln396Glu, XP_011523675.1:p.Gln406Glu, XP_011523680.1:p.Gln360Glu, XP_016880722.1:p.Gln360Glu, XP_011523673.1:p.Gln422Glu, XP_011523674.1:p.Gln422Glu, XP_011523676.1:p.Gln403Glu, XP_011523678.1:p.Gln403Glu, XP_047292899.1:p.Gln396Glu, XP_047292900.1:p.Gln291Glu, XP_047292901.1:p.Gln101Glu

Select item 147782304715.

rs1477823047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:60208206 (GRCh38)
17:58285567 (GRCh37)
Canonical SPDI:: NC_000017.11:60208205:A:C
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.60208206A>C, NC_000017.10:g.58285567A>C, NM_032582.4:c.2778T>G, NM_032582.3:c.2778T>G, XM_011525379.4:c.1947T>G, XM_011525379.3:c.1947T>G, XM_011525379.2:c.1947T>G, XM_011525379.1:c.1947T>G, XM_011525375.2:c.2790T>G, XM_011525375.1:c.2790T>G, XM_011525373.2:c.2820T>G, XM_011525373.1:c.2820T>G, XM_011525378.2:c.2682T>G, XM_011525378.1:c.2682T>G, XM_017025233.2:c.2640T>G, XM_017025233.1:c.2640T>G, XM_011525371.2:c.2868T>G, XM_011525371.1:c.2868T>G, XM_011525372.2:c.2826T>G, XM_011525372.1:c.2826T>G, XM_011525374.2:c.2811T>G, XM_011525374.1:c.2811T>G, XM_011525376.2:c.2769T>G, XM_011525376.1:c.2769T>G, XM_047436943.1:c.2748T>G, XM_047436944.1:c.2475T>G, XM_047436945.1:c.1863T>G, NP_115971.2:p.Ile926Met, XP_011523681.1:p.Ile649Met, XP_011523677.1:p.Ile930Met, XP_011523675.1:p.Ile940Met, XP_011523680.1:p.Ile894Met, XP_016880722.1:p.Ile880Met, XP_011523673.1:p.Ile956Met, XP_011523674.1:p.Ile942Met, XP_011523676.1:p.Ile937Met, XP_011523678.1:p.Ile923Met, XP_047292899.1:p.Ile916Met, XP_047292900.1:p.Ile825Met, XP_047292901.1:p.Ile621Met

Select item 147717688816.

rs1477176888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:60271351 (GRCh38)
17:58348712 (GRCh37)
Canonical SPDI:: NC_000017.11:60271350:T:G
Gene:: USP32 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.60271351T>G, NC_000017.10:g.58348712T>G, NM_032582.4:c.702A>C, NM_032582.3:c.702A>C, XM_011525379.4:c.-172A>C, XM_011525379.3:c.-172A>C, XM_011525379.2:c.-172A>C, XM_011525379.1:c.-172A>C, XM_011525375.2:c.672A>C, XM_011525375.1:c.672A>C, XM_011525373.2:c.702A>C, XM_011525373.1:c.702A>C, XM_011525378.2:c.564A>C, XM_011525378.1:c.564A>C, XM_017025233.2:c.564A>C, XM_017025233.1:c.564A>C, XM_011525371.2:c.750A>C, XM_011525371.1:c.750A>C, XM_011525372.2:c.750A>C, XM_011525372.1:c.750A>C, XM_011525374.2:c.693A>C, XM_011525374.1:c.693A>C, XM_011525376.2:c.693A>C, XM_011525376.1:c.693A>C, XM_047436943.1:c.672A>C, XM_047436944.1:c.357A>C, NP_115971.2:p.Glu234Asp, XP_011523677.1:p.Glu224Asp, XP_011523675.1:p.Glu234Asp, XP_011523680.1:p.Glu188Asp, XP_016880722.1:p.Glu188Asp, XP_011523673.1:p.Glu250Asp, XP_011523674.1:p.Glu250Asp, XP_011523676.1:p.Glu231Asp, XP_011523678.1:p.Glu231Asp, XP_047292899.1:p.Glu224Asp, XP_047292900.1:p.Glu119Asp

Select item 147507137217.

rs1475071372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:60181715 (GRCh38)
17:58259076 (GRCh37)
Canonical SPDI:: NC_000017.11:60181714:C:G
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60181715C>G, NC_000017.10:g.58259076C>G, NM_032582.4:c.4157G>C, NM_032582.3:c.4157G>C, XM_011525379.4:c.3326G>C, XM_011525379.3:c.3326G>C, XM_011525379.2:c.3326G>C, XM_011525379.1:c.3326G>C, XM_011525375.2:c.4169G>C, XM_011525375.1:c.4169G>C, XM_011525373.2:c.4199G>C, XM_011525373.1:c.4199G>C, XM_011525378.2:c.4061G>C, XM_011525378.1:c.4061G>C, XM_017025233.2:c.4019G>C, XM_017025233.1:c.4019G>C, XM_011525371.2:c.4247G>C, XM_011525371.1:c.4247G>C, XM_011525372.2:c.4205G>C, XM_011525372.1:c.4205G>C, XM_011525374.2:c.4190G>C, XM_011525374.1:c.4190G>C, XM_011525376.2:c.4148G>C, XM_011525376.1:c.4148G>C, XM_047436943.1:c.4127G>C, XM_047436944.1:c.3854G>C, XM_047436945.1:c.3242G>C, NP_115971.2:p.Ser1386Thr, XP_011523681.1:p.Ser1109Thr, XP_011523677.1:p.Ser1390Thr, XP_011523675.1:p.Ser1400Thr, XP_011523680.1:p.Ser1354Thr, XP_016880722.1:p.Ser1340Thr, XP_011523673.1:p.Ser1416Thr, XP_011523674.1:p.Ser1402Thr, XP_011523676.1:p.Ser1397Thr, XP_011523678.1:p.Ser1383Thr, XP_047292899.1:p.Ser1376Thr, XP_047292900.1:p.Ser1285Thr, XP_047292901.1:p.Ser1081Thr

Select item 147307268018.

rs1473072680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60208751 (GRCh38)
17:58286112 (GRCh37)
Canonical SPDI:: NC_000017.11:60208750:T:C
Gene:: USP32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.60208751T>C, NC_000017.10:g.58286112T>C, NM_032582.4:c.2676A>G, NM_032582.3:c.2676A>G, XM_011525379.4:c.1845A>G, XM_011525379.3:c.1845A>G, XM_011525379.2:c.1845A>G, XM_011525379.1:c.1845A>G, XM_011525375.2:c.2688A>G, XM_011525375.1:c.2688A>G, XM_011525373.2:c.2718A>G, XM_011525373.1:c.2718A>G, XM_011525378.2:c.2580A>G, XM_011525378.1:c.2580A>G, XM_017025233.2:c.2538A>G, XM_017025233.1:c.2538A>G, XM_011525371.2:c.2766A>G, XM_011525371.1:c.2766A>G, XM_011525372.2:c.2724A>G, XM_011525372.1:c.2724A>G, XM_011525374.2:c.2709A>G, XM_011525374.1:c.2709A>G, XM_011525376.2:c.2667A>G, XM_011525376.1:c.2667A>G, XM_047436943.1:c.2646A>G, XM_047436944.1:c.2373A>G, XM_047436945.1:c.1761A>G

Select item 147191473319.

rs1471914733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60181361 (GRCh38)
17:58258722 (GRCh37)
Canonical SPDI:: NC_000017.11:60181360:G:A
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.60181361G>A, NC_000017.10:g.58258722G>A, NM_032582.4:c.4511C>T, NM_032582.3:c.4511C>T, XM_011525379.4:c.3680C>T, XM_011525379.3:c.3680C>T, XM_011525379.2:c.3680C>T, XM_011525379.1:c.3680C>T, XM_011525375.2:c.4523C>T, XM_011525375.1:c.4523C>T, XM_011525373.2:c.4553C>T, XM_011525373.1:c.4553C>T, XM_011525378.2:c.4415C>T, XM_011525378.1:c.4415C>T, XM_017025233.2:c.4373C>T, XM_017025233.1:c.4373C>T, XM_011525371.2:c.4601C>T, XM_011525371.1:c.4601C>T, XM_011525372.2:c.4559C>T, XM_011525372.1:c.4559C>T, XM_011525374.2:c.4544C>T, XM_011525374.1:c.4544C>T, XM_011525376.2:c.4502C>T, XM_011525376.1:c.4502C>T, XM_047436943.1:c.4481C>T, XM_047436944.1:c.4208C>T, XM_047436945.1:c.3596C>T, NP_115971.2:p.Thr1504Ile, XP_011523681.1:p.Thr1227Ile, XP_011523677.1:p.Thr1508Ile, XP_011523675.1:p.Thr1518Ile, XP_011523680.1:p.Thr1472Ile, XP_016880722.1:p.Thr1458Ile, XP_011523673.1:p.Thr1534Ile, XP_011523674.1:p.Thr1520Ile, XP_011523676.1:p.Thr1515Ile, XP_011523678.1:p.Thr1501Ile, XP_047292899.1:p.Thr1494Ile, XP_047292900.1:p.Thr1403Ile, XP_047292901.1:p.Thr1199Ile

Select item 147143699220.

rs1471436992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:60208117 (GRCh38)
17:58285478 (GRCh37)
Canonical SPDI:: NC_000017.11:60208116:A:G
Gene:: USP32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60208117A>G, NC_000017.10:g.58285478A>G, NM_032582.4:c.2867T>C, NM_032582.3:c.2867T>C, XM_011525379.4:c.2036T>C, XM_011525379.3:c.2036T>C, XM_011525379.2:c.2036T>C, XM_011525379.1:c.2036T>C, XM_011525375.2:c.2879T>C, XM_011525375.1:c.2879T>C, XM_011525373.2:c.2909T>C, XM_011525373.1:c.2909T>C, XM_011525378.2:c.2771T>C, XM_011525378.1:c.2771T>C, XM_017025233.2:c.2729T>C, XM_017025233.1:c.2729T>C, XM_011525371.2:c.2957T>C, XM_011525371.1:c.2957T>C, XM_011525372.2:c.2915T>C, XM_011525372.1:c.2915T>C, XM_011525374.2:c.2900T>C, XM_011525374.1:c.2900T>C, XM_011525376.2:c.2858T>C, XM_011525376.1:c.2858T>C, XM_047436943.1:c.2837T>C, XM_047436944.1:c.2564T>C, XM_047436945.1:c.1952T>C, NP_115971.2:p.Leu956Pro, XP_011523681.1:p.Leu679Pro, XP_011523677.1:p.Leu960Pro, XP_011523675.1:p.Leu970Pro, XP_011523680.1:p.Leu924Pro, XP_016880722.1:p.Leu910Pro, XP_011523673.1:p.Leu986Pro, XP_011523674.1:p.Leu972Pro, XP_011523676.1:p.Leu967Pro, XP_011523678.1:p.Leu953Pro, XP_047292899.1:p.Leu946Pro, XP_047292900.1:p.Leu855Pro, XP_047292901.1:p.Leu651Pro

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