SNP Links for Protein (Select 14149627) - SNP

Links from Protein

Items: 1 to 20 of 647

<< First< Prev

Page of 33

Next >Last >>

Select item 14909477761.

rs1490947776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:62389889 (GRCh38)
12:62783669 (GRCh37)
Canonical SPDI:: NC_000012.12:62389888:A:G
Gene:: USP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.62389889A>G, NC_000012.11:g.62783669A>G, NM_006313.3:c.1658A>G, NM_006313.2:c.1658A>G, NM_001351165.2:c.746A>G, NM_001351165.1:c.746A>G, NM_001351159.2:c.1382A>G, NM_001351159.1:c.1382A>G, NM_001351166.2:c.746A>G, NM_001351166.1:c.746A>G, NR_147082.2:n.1815A>G, NR_147082.1:n.1879A>G, NM_001351163.2:c.746A>G, NM_001351163.1:c.746A>G, NR_147079.2:n.1756A>G, NR_147079.1:n.1820A>G, NR_147078.2:n.1770A>G, NR_147078.1:n.1834A>G, NM_001252078.2:c.1745A>G, NM_001252078.1:c.1745A>G, NM_001351164.2:c.746A>G, NM_001351164.1:c.746A>G, NR_147081.2:n.1669A>G, NR_147081.1:n.1733A>G, NM_001351160.2:c.998A>G, NM_001351160.1:c.998A>G, NR_147080.2:n.1607A>G, NR_147080.1:n.1671A>G, NP_006304.1:p.His553Arg, NP_001338094.1:p.His249Arg, NP_001338088.1:p.His461Arg, NP_001338095.1:p.His249Arg, NP_001338092.1:p.His249Arg, NP_001239007.1:p.His582Arg, NP_001338093.1:p.His249Arg, NP_001338089.1:p.His333Arg

Select item 14904757812.

rs1490475781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:62392304 (GRCh38)
12:62786084 (GRCh37)
Canonical SPDI:: NC_000012.12:62392303:A:G
Gene:: USP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000012.12:g.62392304A>G, NC_000012.11:g.62786084A>G, NM_006313.3:c.2250A>G, NM_006313.2:c.2250A>G, NM_001351165.2:c.1338A>G, NM_001351165.1:c.1338A>G, NM_001351159.2:c.1974A>G, NM_001351159.1:c.1974A>G, NM_001351166.2:c.1338A>G, NM_001351166.1:c.1338A>G, NR_147082.2:n.2423A>G, NR_147082.1:n.2487A>G, NM_001351163.2:c.1338A>G, NM_001351163.1:c.1338A>G, NR_147079.2:n.2364A>G, NR_147079.1:n.2428A>G, NR_147078.2:n.2362A>G, NR_147078.1:n.2426A>G, NM_001252078.2:c.2337A>G, NM_001252078.1:c.2337A>G, NM_001351164.2:c.1338A>G, NM_001351164.1:c.1338A>G, NR_147081.2:n.2277A>G, NR_147081.1:n.2341A>G, NM_001351160.2:c.1590A>G, NM_001351160.1:c.1590A>G, NR_147080.2:n.2195A>G, NR_147080.1:n.2259A>G

Select item 14901544713.

rs1490154471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:62391253 (GRCh38)
12:62785033 (GRCh37)
Canonical SPDI:: NC_000012.12:62391252:G:A
Gene:: USP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.62391253G>A, NC_000012.11:g.62785033G>A, NM_006313.3:c.1970G>A, NM_006313.2:c.1970G>A, NM_001351165.2:c.1058G>A, NM_001351165.1:c.1058G>A, NM_001351159.2:c.1694G>A, NM_001351159.1:c.1694G>A, NM_001351166.2:c.1058G>A, NM_001351166.1:c.1058G>A, NR_147082.2:n.2127G>A, NR_147082.1:n.2191G>A, NM_001351163.2:c.1058G>A, NM_001351163.1:c.1058G>A, NR_147079.2:n.2068G>A, NR_147079.1:n.2132G>A, NR_147078.2:n.2082G>A, NR_147078.1:n.2146G>A, NM_001252078.2:c.2057G>A, NM_001252078.1:c.2057G>A, NM_001351164.2:c.1058G>A, NM_001351164.1:c.1058G>A, NR_147081.2:n.1981G>A, NR_147081.1:n.2045G>A, NM_001351160.2:c.1310G>A, NM_001351160.1:c.1310G>A, NR_147080.2:n.1919G>A, NR_147080.1:n.1983G>A, NP_006304.1:p.Gly657Glu, NP_001338094.1:p.Gly353Glu, NP_001338088.1:p.Gly565Glu, NP_001338095.1:p.Gly353Glu, NP_001338092.1:p.Gly353Glu, NP_001239007.1:p.Gly686Glu, NP_001338093.1:p.Gly353Glu, NP_001338089.1:p.Gly437Glu

Select item 14869974354.

rs1486997435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:62390936 (GRCh38)
12:62784716 (GRCh37)
Canonical SPDI:: NC_000012.12:62390935:T:C
Gene:: USP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.62390936T>C, NC_000012.11:g.62784716T>C, NM_006313.3:c.1830T>C, NM_006313.2:c.1830T>C, NM_001351165.2:c.918T>C, NM_001351165.1:c.918T>C, NM_001351159.2:c.1554T>C, NM_001351159.1:c.1554T>C, NM_001351166.2:c.918T>C, NM_001351166.1:c.918T>C, NR_147082.2:n.1987T>C, NR_147082.1:n.2051T>C, NM_001351163.2:c.918T>C, NM_001351163.1:c.918T>C, NR_147079.2:n.1928T>C, NR_147079.1:n.1992T>C, NR_147078.2:n.1942T>C, NR_147078.1:n.2006T>C, NM_001252078.2:c.1917T>C, NM_001252078.1:c.1917T>C, NM_001351164.2:c.918T>C, NM_001351164.1:c.918T>C, NR_147081.2:n.1841T>C, NR_147081.1:n.1905T>C, NM_001351160.2:c.1170T>C, NM_001351160.1:c.1170T>C, NR_147080.2:n.1779T>C, NR_147080.1:n.1843T>C

Select item 14851379855.

rs1485137985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:62260501 (GRCh38)
12:62654282 (GRCh37)
Canonical SPDI:: NC_000012.12:62260500:C:G
Gene:: USP15 (Varview), TAFA2 (Varview), MIR6125 (Varview)
Functional Consequence:: 500B_downstream_variant,5_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.62260501C>G, NC_000012.11:g.62654282C>G, NM_006313.3:c.87C>G, NM_006313.2:c.87C>G, NM_001351165.2:c.-2445C>G, NM_001351165.1:c.-2445C>G, NM_001351159.2:c.-1663C>G, NM_001351159.1:c.-1663C>G, NM_001351166.2:c.-1059C>G, NM_001351166.1:c.-1059C>G, NR_147082.2:n.98C>G, NR_147082.1:n.162C>G, NM_001351163.2:c.-972C>G, NM_001351163.1:c.-972C>G, NR_147079.2:n.98C>G, NR_147079.1:n.162C>G, NR_147078.2:n.98C>G, NR_147078.1:n.162C>G, NM_001252078.2:c.87C>G, NM_001252078.1:c.87C>G, NM_001351164.2:c.-911C>G, NM_001351164.1:c.-911C>G, NR_147081.2:n.98C>G, NR_147081.1:n.162C>G, NM_001351160.2:c.-512C>G, NM_001351160.1:c.-512C>G, NR_147080.2:n.98C>G, NR_147080.1:n.162C>G, NM_001252079.2:c.87C>G, NM_001252079.1:c.87C>G, NM_001351161.2:c.87C>G, NM_001351161.1:c.87C>G, NM_001351162.2:c.87C>G, NM_001351162.1:c.87C>G

Select item 14836437236.

rs1483643723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:62389966 (GRCh38)
12:62783746 (GRCh37)
Canonical SPDI:: NC_000012.12:62389965:A:G
Gene:: USP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.62389966A>G, NC_000012.11:g.62783746A>G, NM_006313.3:c.1735A>G, NM_006313.2:c.1735A>G, NM_001351165.2:c.823A>G, NM_001351165.1:c.823A>G, NM_001351159.2:c.1459A>G, NM_001351159.1:c.1459A>G, NM_001351166.2:c.823A>G, NM_001351166.1:c.823A>G, NR_147082.2:n.1892A>G, NR_147082.1:n.1956A>G, NM_001351163.2:c.823A>G, NM_001351163.1:c.823A>G, NR_147079.2:n.1833A>G, NR_147079.1:n.1897A>G, NR_147078.2:n.1847A>G, NR_147078.1:n.1911A>G, NM_001252078.2:c.1822A>G, NM_001252078.1:c.1822A>G, NM_001351164.2:c.823A>G, NM_001351164.1:c.823A>G, NR_147081.2:n.1746A>G, NR_147081.1:n.1810A>G, NM_001351160.2:c.1075A>G, NM_001351160.1:c.1075A>G, NR_147080.2:n.1684A>G, NR_147080.1:n.1748A>G, NP_006304.1:p.Asn579Asp, NP_001338094.1:p.Asn275Asp, NP_001338088.1:p.Asn487Asp, NP_001338095.1:p.Asn275Asp, NP_001338092.1:p.Asn275Asp, NP_001239007.1:p.Asn608Asp, NP_001338093.1:p.Asn275Asp, NP_001338089.1:p.Asn359Asp

Select item 14835934217.

rs1483593421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:62384085 (GRCh38)
12:62777866 (GRCh37)
Canonical SPDI:: NC_000012.12:62384084:C:T
Gene:: USP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.62384085C>T, NC_000012.11:g.62777866C>T, NM_006313.3:c.1169C>T, NM_006313.2:c.1169C>T, NM_001351165.2:c.257C>T, NM_001351165.1:c.257C>T, NM_001351159.2:c.893C>T, NM_001351159.1:c.893C>T, NM_001351166.2:c.257C>T, NM_001351166.1:c.257C>T, NR_147082.2:n.1326C>T, NR_147082.1:n.1390C>T, NM_001351163.2:c.257C>T, NM_001351163.1:c.257C>T, NR_147079.2:n.1267C>T, NR_147079.1:n.1331C>T, NR_147078.2:n.1267C>T, NR_147078.1:n.1331C>T, NM_001252078.2:c.1256C>T, NM_001252078.1:c.1256C>T, NM_001351164.2:c.257C>T, NM_001351164.1:c.257C>T, NR_147081.2:n.1180C>T, NR_147081.1:n.1244C>T, NM_001351160.2:c.509C>T, NM_001351160.1:c.509C>T, NR_147080.2:n.1118C>T, NR_147080.1:n.1182C>T, NP_006304.1:p.Ala390Val, NP_001338094.1:p.Ala86Val, NP_001338088.1:p.Ala298Val, NP_001338095.1:p.Ala86Val, NP_001338092.1:p.Ala86Val, NP_001239007.1:p.Ala419Val, NP_001338093.1:p.Ala86Val, NP_001338089.1:p.Ala170Val

Select item 14833019618.

rs1483301961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:62260439 (GRCh38)
12:62654220 (GRCh37)
Canonical SPDI:: NC_000012.12:62260438:C:A,NC_000012.12:62260438:C:T
Gene:: USP15 (Varview), TAFA2 (Varview), MIR6125 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001119/5 (ALFA)
A=0.000013/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000012.12:g.62260439C>A, NC_000012.12:g.62260439C>T, NC_000012.11:g.62654220C>A, NC_000012.11:g.62654220C>T, NM_006313.3:c.25C>A, NM_006313.3:c.25C>T, NM_006313.2:c.25C>A, NM_006313.2:c.25C>T, NM_001351165.2:c.-2507C>A, NM_001351165.2:c.-2507C>T, NM_001351165.1:c.-2507C>A, NM_001351165.1:c.-2507C>T, NM_001351159.2:c.-1725C>A, NM_001351159.2:c.-1725C>T, NM_001351159.1:c.-1725C>A, NM_001351159.1:c.-1725C>T, NM_001351166.2:c.-1121C>A, NM_001351166.2:c.-1121C>T, NM_001351166.1:c.-1121C>A, NM_001351166.1:c.-1121C>T, NR_147082.2:n.36C>A, NR_147082.2:n.36C>T, NR_147082.1:n.100C>A, NR_147082.1:n.100C>T, NM_001351163.2:c.-1034C>A, NM_001351163.2:c.-1034C>T, NM_001351163.1:c.-1034C>A, NM_001351163.1:c.-1034C>T, NR_147079.2:n.36C>A, NR_147079.2:n.36C>T, NR_147079.1:n.100C>A, NR_147079.1:n.100C>T, NR_147078.2:n.36C>A, NR_147078.2:n.36C>T, NR_147078.1:n.100C>A, NR_147078.1:n.100C>T, NM_001252078.2:c.25C>A, NM_001252078.2:c.25C>T, NM_001252078.1:c.25C>A, NM_001252078.1:c.25C>T, NM_001351164.2:c.-973C>A, NM_001351164.2:c.-973C>T, NM_001351164.1:c.-973C>A, NM_001351164.1:c.-973C>T, NR_147081.2:n.36C>A, NR_147081.2:n.36C>T, NR_147081.1:n.100C>A, NR_147081.1:n.100C>T, NM_001351160.2:c.-574C>A, NM_001351160.2:c.-574C>T, NM_001351160.1:c.-574C>A, NM_001351160.1:c.-574C>T, NR_147080.2:n.36C>A, NR_147080.2:n.36C>T, NR_147080.1:n.100C>A, NR_147080.1:n.100C>T, NM_001252079.2:c.25C>A, NM_001252079.2:c.25C>T, NM_001252079.1:c.25C>A, NM_001252079.1:c.25C>T, NM_001351161.2:c.25C>A, NM_001351161.2:c.25C>T, NM_001351161.1:c.25C>A, NM_001351161.1:c.25C>T, NM_001351162.2:c.25C>A, NM_001351162.2:c.25C>T, NM_001351162.1:c.25C>A, NM_001351162.1:c.25C>T, NR_106740.1:n.81C>A, NR_106740.1:n.81C>T, NP_006304.1:p.Leu9Met, NP_001239007.1:p.Leu9Met, NP_001239008.1:p.Leu9Met, NP_001338090.1:p.Leu9Met, NP_001338091.1:p.Leu9Met

Select item 14828992519.

rs1482899251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:62384277 (GRCh38)
12:62778058 (GRCh37)
Canonical SPDI:: NC_000012.12:62384276:T:C
Gene:: USP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.62384277T>C, NC_000012.11:g.62778058T>C, NM_006313.3:c.1361T>C, NM_006313.2:c.1361T>C, NM_001351165.2:c.449T>C, NM_001351165.1:c.449T>C, NM_001351159.2:c.1085T>C, NM_001351159.1:c.1085T>C, NM_001351166.2:c.449T>C, NM_001351166.1:c.449T>C, NR_147082.2:n.1518T>C, NR_147082.1:n.1582T>C, NM_001351163.2:c.449T>C, NM_001351163.1:c.449T>C, NR_147079.2:n.1459T>C, NR_147079.1:n.1523T>C, NR_147078.2:n.1459T>C, NR_147078.1:n.1523T>C, NM_001252078.2:c.1448T>C, NM_001252078.1:c.1448T>C, NM_001351164.2:c.449T>C, NM_001351164.1:c.449T>C, NR_147081.2:n.1372T>C, NR_147081.1:n.1436T>C, NM_001351160.2:c.701T>C, NM_001351160.1:c.701T>C, NR_147080.2:n.1310T>C, NR_147080.1:n.1374T>C, NP_006304.1:p.Met454Thr, NP_001338094.1:p.Met150Thr, NP_001338088.1:p.Met362Thr, NP_001338095.1:p.Met150Thr, NP_001338092.1:p.Met150Thr, NP_001239007.1:p.Met483Thr, NP_001338093.1:p.Met150Thr, NP_001338089.1:p.Met234Thr

Select item 148195388810.

rs1481953888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:62381545 (GRCh38)
12:62775326 (GRCh37)
Canonical SPDI:: NC_000012.12:62381544:A:T
Gene:: USP15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.62381545A>T, NC_000012.11:g.62775326A>T, NM_006313.3:c.884A>T, NM_006313.2:c.884A>T, NM_001351165.2:c.-29A>T, NM_001351165.1:c.-29A>T, NM_001351159.2:c.608A>T, NM_001351159.1:c.608A>T, NM_001351166.2:c.-29A>T, NM_001351166.1:c.-29A>T, NR_147082.2:n.1041A>T, NR_147082.1:n.1105A>T, NM_001351163.2:c.-29A>T, NM_001351163.1:c.-29A>T, NR_147079.2:n.982A>T, NR_147079.1:n.1046A>T, NR_147078.2:n.982A>T, NR_147078.1:n.1046A>T, NM_001252078.2:c.971A>T, NM_001252078.1:c.971A>T, NM_001351164.2:c.-29A>T, NM_001351164.1:c.-29A>T, NR_147081.2:n.895A>T, NR_147081.1:n.959A>T, NM_001351160.2:c.224A>T, NM_001351160.1:c.224A>T, NR_147080.2:n.833A>T, NR_147080.1:n.897A>T, NP_006304.1:p.Glu295Val, NP_001338088.1:p.Glu203Val, NP_001239007.1:p.Glu324Val, NP_001338089.1:p.Glu75Val

Select item 148176828511.

rs1481768285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:62383969 (GRCh38)
12:62777750 (GRCh37)
Canonical SPDI:: NC_000012.12:62383968:T:G
Gene:: USP15 (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=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.62383969T>G, NC_000012.11:g.62777750T>G, NM_006313.3:c.1132T>G, NM_006313.2:c.1132T>G, NM_001351165.2:c.220T>G, NM_001351165.1:c.220T>G, NM_001351159.2:c.856T>G, NM_001351159.1:c.856T>G, NM_001351166.2:c.220T>G, NM_001351166.1:c.220T>G, NR_147082.2:n.1289T>G, NR_147082.1:n.1353T>G, NM_001351163.2:c.220T>G, NM_001351163.1:c.220T>G, NR_147079.2:n.1230T>G, NR_147079.1:n.1294T>G, NR_147078.2:n.1230T>G, NR_147078.1:n.1294T>G, NM_001252078.2:c.1219T>G, NM_001252078.1:c.1219T>G, NM_001351164.2:c.220T>G, NM_001351164.1:c.220T>G, NR_147081.2:n.1143T>G, NR_147081.1:n.1207T>G, NM_001351160.2:c.472T>G, NM_001351160.1:c.472T>G, NR_147080.2:n.1081T>G, NR_147080.1:n.1145T>G, NP_006304.1:p.Leu378Val, NP_001338094.1:p.Leu74Val, NP_001338088.1:p.Leu286Val, NP_001338095.1:p.Leu74Val, NP_001338092.1:p.Leu74Val, NP_001239007.1:p.Leu407Val, NP_001338093.1:p.Leu74Val, NP_001338089.1:p.Leu158Val

Select item 148096422312.

rs1480964223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:62389958 (GRCh38)
12:62783738 (GRCh37)
Canonical SPDI:: NC_000012.12:62389957:A:G
Gene:: USP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.62389958A>G, NC_000012.11:g.62783738A>G, NM_006313.3:c.1727A>G, NM_006313.2:c.1727A>G, NM_001351165.2:c.815A>G, NM_001351165.1:c.815A>G, NM_001351159.2:c.1451A>G, NM_001351159.1:c.1451A>G, NM_001351166.2:c.815A>G, NM_001351166.1:c.815A>G, NR_147082.2:n.1884A>G, NR_147082.1:n.1948A>G, NM_001351163.2:c.815A>G, NM_001351163.1:c.815A>G, NR_147079.2:n.1825A>G, NR_147079.1:n.1889A>G, NR_147078.2:n.1839A>G, NR_147078.1:n.1903A>G, NM_001252078.2:c.1814A>G, NM_001252078.1:c.1814A>G, NM_001351164.2:c.815A>G, NM_001351164.1:c.815A>G, NR_147081.2:n.1738A>G, NR_147081.1:n.1802A>G, NM_001351160.2:c.1067A>G, NM_001351160.1:c.1067A>G, NR_147080.2:n.1676A>G, NR_147080.1:n.1740A>G, NP_006304.1:p.Lys576Arg, NP_001338094.1:p.Lys272Arg, NP_001338088.1:p.Lys484Arg, NP_001338095.1:p.Lys272Arg, NP_001338092.1:p.Lys272Arg, NP_001239007.1:p.Lys605Arg, NP_001338093.1:p.Lys272Arg, NP_001338089.1:p.Lys356Arg

Select item 148056267313.

rs1480562673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:62384262 (GRCh38)
12:62778043 (GRCh37)
Canonical SPDI:: NC_000012.12:62384261:T:C
Gene:: USP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.62384262T>C, NC_000012.11:g.62778043T>C, NM_006313.3:c.1346T>C, NM_006313.2:c.1346T>C, NM_001351165.2:c.434T>C, NM_001351165.1:c.434T>C, NM_001351159.2:c.1070T>C, NM_001351159.1:c.1070T>C, NM_001351166.2:c.434T>C, NM_001351166.1:c.434T>C, NR_147082.2:n.1503T>C, NR_147082.1:n.1567T>C, NM_001351163.2:c.434T>C, NM_001351163.1:c.434T>C, NR_147079.2:n.1444T>C, NR_147079.1:n.1508T>C, NR_147078.2:n.1444T>C, NR_147078.1:n.1508T>C, NM_001252078.2:c.1433T>C, NM_001252078.1:c.1433T>C, NM_001351164.2:c.434T>C, NM_001351164.1:c.434T>C, NR_147081.2:n.1357T>C, NR_147081.1:n.1421T>C, NM_001351160.2:c.686T>C, NM_001351160.1:c.686T>C, NR_147080.2:n.1295T>C, NR_147080.1:n.1359T>C, NP_006304.1:p.Val449Ala, NP_001338094.1:p.Val145Ala, NP_001338088.1:p.Val357Ala, NP_001338095.1:p.Val145Ala, NP_001338092.1:p.Val145Ala, NP_001239007.1:p.Val478Ala, NP_001338093.1:p.Val145Ala, NP_001338089.1:p.Val229Ala

Select item 147996653714.

rs1479966537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:62321574 (GRCh38)
12:62715355 (GRCh37)
Canonical SPDI:: NC_000012.12:62321573:A:G
Gene:: USP15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.62321574A>G, NC_000012.11:g.62715355A>G, NM_006313.3:c.586A>G, NM_006313.2:c.586A>G, NM_001351165.2:c.-560A>G, NM_001351165.1:c.-560A>G, NM_001351159.2:c.223A>G, NM_001351159.1:c.223A>G, NM_001351166.2:c.-560A>G, NM_001351166.1:c.-560A>G, NR_147082.2:n.597A>G, NR_147082.1:n.661A>G, NM_001351163.2:c.-473A>G, NM_001351163.1:c.-473A>G, NR_147079.2:n.597A>G, NR_147079.1:n.661A>G, NR_147078.2:n.597A>G, NR_147078.1:n.661A>G, NM_001252078.2:c.586A>G, NM_001252078.1:c.586A>G, NM_001351164.2:c.-412A>G, NM_001351164.1:c.-412A>G, NR_147081.2:n.597A>G, NR_147081.1:n.661A>G, NM_001351160.2:c.-13A>G, NM_001351160.1:c.-13A>G, NR_147080.2:n.597A>G, NR_147080.1:n.661A>G, NM_001252079.2:c.586A>G, NM_001252079.1:c.586A>G, NP_006304.1:p.Ser196Gly, NP_001338088.1:p.Ser75Gly, NP_001239007.1:p.Ser196Gly, NP_001239008.1:p.Ser196Gly

Select item 147634317715.

rs1476343177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:62302854 (GRCh38)
12:62696635 (GRCh37)
Canonical SPDI:: NC_000012.12:62302853:T:C
Gene:: USP15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.62302854T>C, NC_000012.11:g.62696635T>C, NM_006313.3:c.282T>C, NM_006313.2:c.282T>C, NM_001351165.2:c.-2250T>C, NM_001351165.1:c.-2250T>C, NM_001351159.2:c.-1468T>C, NM_001351159.1:c.-1468T>C, NM_001351166.2:c.-864T>C, NM_001351166.1:c.-864T>C, NR_147082.2:n.293T>C, NR_147082.1:n.357T>C, NM_001351163.2:c.-777T>C, NM_001351163.1:c.-777T>C, NR_147079.2:n.293T>C, NR_147079.1:n.357T>C, NR_147078.2:n.293T>C, NR_147078.1:n.357T>C, NM_001252078.2:c.282T>C, NM_001252078.1:c.282T>C, NM_001351164.2:c.-716T>C, NM_001351164.1:c.-716T>C, NR_147081.2:n.293T>C, NR_147081.1:n.357T>C, NM_001351160.2:c.-317T>C, NM_001351160.1:c.-317T>C, NR_147080.2:n.293T>C, NR_147080.1:n.357T>C, NM_001252079.2:c.282T>C, NM_001252079.1:c.282T>C, NM_001351161.2:c.282T>C, NM_001351161.1:c.282T>C

Select item 147492507716.

rs1474925077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:62321504 (GRCh38)
12:62715285 (GRCh37)
Canonical SPDI:: NC_000012.12:62321503:A:G
Gene:: USP15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.62321504A>G, NC_000012.11:g.62715285A>G, NM_006313.3:c.516A>G, NM_006313.2:c.516A>G, NM_001351165.2:c.-630A>G, NM_001351165.1:c.-630A>G, NM_001351159.2:c.153A>G, NM_001351159.1:c.153A>G, NM_001351166.2:c.-630A>G, NM_001351166.1:c.-630A>G, NR_147082.2:n.527A>G, NR_147082.1:n.591A>G, NM_001351163.2:c.-543A>G, NM_001351163.1:c.-543A>G, NR_147079.2:n.527A>G, NR_147079.1:n.591A>G, NR_147078.2:n.527A>G, NR_147078.1:n.591A>G, NM_001252078.2:c.516A>G, NM_001252078.1:c.516A>G, NM_001351164.2:c.-482A>G, NM_001351164.1:c.-482A>G, NR_147081.2:n.527A>G, NR_147081.1:n.591A>G, NM_001351160.2:c.-83A>G, NM_001351160.1:c.-83A>G, NR_147080.2:n.527A>G, NR_147080.1:n.591A>G, NM_001252079.2:c.516A>G, NM_001252079.1:c.516A>G

Select item 147462296517.

rs1474622965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:62389698 (GRCh38)
12:62783478 (GRCh37)
Canonical SPDI:: NC_000012.12:62389697:G:A
Gene:: USP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.62389698G>A, NC_000012.11:g.62783478G>A, NM_006313.3:c.1564G>A, NM_006313.2:c.1564G>A, NM_001351165.2:c.652G>A, NM_001351165.1:c.652G>A, NM_001351159.2:c.1288G>A, NM_001351159.1:c.1288G>A, NM_001351166.2:c.652G>A, NM_001351166.1:c.652G>A, NR_147082.2:n.1721G>A, NR_147082.1:n.1785G>A, NM_001351163.2:c.652G>A, NM_001351163.1:c.652G>A, NR_147079.2:n.1662G>A, NR_147079.1:n.1726G>A, NR_147078.2:n.1662G>A, NR_147078.1:n.1726G>A, NM_001252078.2:c.1651G>A, NM_001252078.1:c.1651G>A, NM_001351164.2:c.652G>A, NM_001351164.1:c.652G>A, NR_147081.2:n.1575G>A, NR_147081.1:n.1639G>A, NM_001351160.2:c.904G>A, NM_001351160.1:c.904G>A, NR_147080.2:n.1513G>A, NR_147080.1:n.1577G>A, NP_006304.1:p.Val522Met, NP_001338094.1:p.Val218Met, NP_001338088.1:p.Val430Met, NP_001338095.1:p.Val218Met, NP_001338092.1:p.Val218Met, NP_001239007.1:p.Val551Met, NP_001338093.1:p.Val218Met, NP_001338089.1:p.Val302Met

Select item 147444821118.

rs1474448211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:62314811 (GRCh38)
12:62708592 (GRCh37)
Canonical SPDI:: NC_000012.12:62314810:G:A
Gene:: USP15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.62314811G>A, NC_000012.11:g.62708592G>A, NM_006313.3:c.370G>A, NM_006313.2:c.370G>A, NM_001351165.2:c.-776G>A, NM_001351165.1:c.-776G>A, NM_001351159.2:c.7G>A, NM_001351159.1:c.7G>A, NM_001351166.2:c.-776G>A, NM_001351166.1:c.-776G>A, NR_147082.2:n.381G>A, NR_147082.1:n.445G>A, NM_001351163.2:c.-689G>A, NM_001351163.1:c.-689G>A, NR_147079.2:n.381G>A, NR_147079.1:n.445G>A, NR_147078.2:n.381G>A, NR_147078.1:n.445G>A, NM_001252078.2:c.370G>A, NM_001252078.1:c.370G>A, NM_001351164.2:c.-628G>A, NM_001351164.1:c.-628G>A, NR_147081.2:n.381G>A, NR_147081.1:n.445G>A, NM_001351160.2:c.-229G>A, NM_001351160.1:c.-229G>A, NR_147080.2:n.381G>A, NR_147080.1:n.445G>A, NM_001252079.2:c.370G>A, NM_001252079.1:c.370G>A, NP_006304.1:p.Val124Ile, NP_001338088.1:p.Val3Ile, NP_001239007.1:p.Val124Ile, NP_001239008.1:p.Val124Ile

Select item 147439536919.

rs1474395369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:62260447 (GRCh38)
12:62654228 (GRCh37)
Canonical SPDI:: NC_000012.12:62260446:C:T
Gene:: USP15 (Varview), TAFA2 (Varview), MIR6125 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.62260447C>T, NC_000012.11:g.62654228C>T, NM_006313.3:c.33C>T, NM_006313.2:c.33C>T, NM_001351165.2:c.-2499C>T, NM_001351165.1:c.-2499C>T, NM_001351159.2:c.-1717C>T, NM_001351159.1:c.-1717C>T, NM_001351166.2:c.-1113C>T, NM_001351166.1:c.-1113C>T, NR_147082.2:n.44C>T, NR_147082.1:n.108C>T, NM_001351163.2:c.-1026C>T, NM_001351163.1:c.-1026C>T, NR_147079.2:n.44C>T, NR_147079.1:n.108C>T, NR_147078.2:n.44C>T, NR_147078.1:n.108C>T, NM_001252078.2:c.33C>T, NM_001252078.1:c.33C>T, NM_001351164.2:c.-965C>T, NM_001351164.1:c.-965C>T, NR_147081.2:n.44C>T, NR_147081.1:n.108C>T, NM_001351160.2:c.-566C>T, NM_001351160.1:c.-566C>T, NR_147080.2:n.44C>T, NR_147080.1:n.108C>T, NM_001252079.2:c.33C>T, NM_001252079.1:c.33C>T, NM_001351161.2:c.33C>T, NM_001351161.1:c.33C>T, NM_001351162.2:c.33C>T, NM_001351162.1:c.33C>T, NR_106740.1:n.89C>T

Select item 147377563820.

rs1473775638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:62381559 (GRCh38)
12:62775340 (GRCh37)
Canonical SPDI:: NC_000012.12:62381558:G:A
Gene:: USP15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.62381559G>A, NC_000012.11:g.62775340G>A, NM_006313.3:c.898G>A, NM_006313.2:c.898G>A, NM_001351165.2:c.-15G>A, NM_001351165.1:c.-15G>A, NM_001351159.2:c.622G>A, NM_001351159.1:c.622G>A, NM_001351166.2:c.-15G>A, NM_001351166.1:c.-15G>A, NR_147082.2:n.1055G>A, NR_147082.1:n.1119G>A, NM_001351163.2:c.-15G>A, NM_001351163.1:c.-15G>A, NR_147079.2:n.996G>A, NR_147079.1:n.1060G>A, NR_147078.2:n.996G>A, NR_147078.1:n.1060G>A, NM_001252078.2:c.985G>A, NM_001252078.1:c.985G>A, NM_001351164.2:c.-15G>A, NM_001351164.1:c.-15G>A, NR_147081.2:n.909G>A, NR_147081.1:n.973G>A, NM_001351160.2:c.238G>A, NM_001351160.1:c.238G>A, NR_147080.2:n.847G>A, NR_147080.1:n.911G>A, NP_006304.1:p.Asp300Asn, NP_001338088.1:p.Asp208Asn, NP_001239007.1:p.Asp329Asn, NP_001338089.1:p.Asp80Asn

<< First< Prev

Page of 33

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 647

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity