SNP Links for Protein (Select 365192532) - SNP

Links from Protein

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Select item 14890489691.

rs1489048969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:8495195 (GRCh38)
17:8398513 (GRCh37)
Canonical SPDI:: NC_000017.11:8495194:T:G
Gene:: MYH10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.8495195T>G, NC_000017.10:g.8398513T>G, NG_042305.2:g.140567A>C, NM_005964.5:c.3905A>C, NM_005964.4:c.3905A>C, NM_005964.3:c.3905A>C, NM_001256012.3:c.3998A>C, NM_001256012.2:c.3998A>C, NM_001256012.1:c.3998A>C, NM_001256095.2:c.3932A>C, NM_001256095.1:c.3932A>C, NM_001375266.1:c.3935A>C, XM_011523875.3:c.4088A>C, XM_011523875.2:c.4088A>C, XM_011523875.1:c.4088A>C, XM_011523878.3:c.4025A>C, XM_011523878.2:c.4025A>C, XM_011523878.1:c.4025A>C, XM_011523879.3:c.4022A>C, XM_011523879.2:c.4022A>C, XM_011523879.1:c.4022A>C, XM_011523880.3:c.3995A>C, XM_011523880.2:c.3995A>C, XM_011523880.1:c.3995A>C, XM_017024678.2:c.3935A>C, XM_017024678.1:c.3935A>C, XM_017024681.2:c.3905A>C, XM_017024681.1:c.3905A>C, XM_047436128.1:c.3935A>C, XM_047436130.1:c.3935A>C, XM_047436129.1:c.3935A>C, NP_005955.3:p.Lys1302Thr, NP_001242941.1:p.Lys1333Thr, NP_001243024.1:p.Lys1311Thr, NP_001362195.1:p.Lys1312Thr, XP_011522177.1:p.Lys1363Thr, XP_011522180.1:p.Lys1342Thr, XP_011522181.1:p.Lys1341Thr, XP_011522182.1:p.Lys1332Thr, XP_016880167.1:p.Lys1312Thr, XP_016880170.1:p.Lys1302Thr, XP_047292084.1:p.Lys1312Thr, XP_047292086.1:p.Lys1312Thr, XP_047292085.1:p.Lys1312Thr

Select item 14881757172.

rs1488175717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8509813 (GRCh38)
17:8413131 (GRCh37)
Canonical SPDI:: NC_000017.11:8509812:T:C
Gene:: MYH10 (Varview), LOC102724262 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8509813T>C, NC_000017.10:g.8413131T>C, NG_042305.2:g.125949A>G, NM_005964.5:c.2996A>G, NM_005964.4:c.2996A>G, NM_005964.3:c.2996A>G, NM_001256012.3:c.3089A>G, NM_001256012.2:c.3089A>G, NM_001256012.1:c.3089A>G, NM_001256095.2:c.3023A>G, NM_001256095.1:c.3023A>G, NM_001375266.1:c.3026A>G, XM_011523875.3:c.3179A>G, XM_011523875.2:c.3179A>G, XM_011523875.1:c.3179A>G, XM_011523878.3:c.3116A>G, XM_011523878.2:c.3116A>G, XM_011523878.1:c.3116A>G, XM_011523879.3:c.3113A>G, XM_011523879.2:c.3113A>G, XM_011523879.1:c.3113A>G, XM_011523880.3:c.3086A>G, XM_011523880.2:c.3086A>G, XM_011523880.1:c.3086A>G, XM_017024678.2:c.3026A>G, XM_017024678.1:c.3026A>G, XM_017024681.2:c.2996A>G, XM_017024681.1:c.2996A>G, XM_047436128.1:c.3026A>G, XM_047436130.1:c.3026A>G, XM_047436129.1:c.3026A>G, NP_005955.3:p.Lys999Arg, NP_001242941.1:p.Lys1030Arg, NP_001243024.1:p.Lys1008Arg, NP_001362195.1:p.Lys1009Arg, XP_011522177.1:p.Lys1060Arg, XP_011522180.1:p.Lys1039Arg, XP_011522181.1:p.Lys1038Arg, XP_011522182.1:p.Lys1029Arg, XP_016880167.1:p.Lys1009Arg, XP_016880170.1:p.Lys999Arg, XP_047292084.1:p.Lys1009Arg, XP_047292086.1:p.Lys1009Arg, XP_047292085.1:p.Lys1009Arg

Select item 14880565413.

rs1488056541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8604868 (GRCh38)
17:8508186 (GRCh37)
Canonical SPDI:: NC_000017.11:8604867:T:C
Gene:: MYH10 (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=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8604868T>C, NC_000017.10:g.8508186T>C, NG_042305.2:g.30894A>G, NM_005964.5:c.460A>G, NM_005964.4:c.460A>G, NM_005964.3:c.460A>G, NM_001256012.3:c.460A>G, NM_001256012.2:c.460A>G, NM_001256012.1:c.460A>G, NM_001256095.2:c.460A>G, NM_001256095.1:c.460A>G, NM_001375266.1:c.460A>G, XM_011523875.3:c.550A>G, XM_011523875.2:c.550A>G, XM_011523875.1:c.550A>G, XM_011523878.3:c.550A>G, XM_011523878.2:c.550A>G, XM_011523878.1:c.550A>G, XM_011523879.3:c.550A>G, XM_011523879.2:c.550A>G, XM_011523879.1:c.550A>G, XM_011523880.3:c.550A>G, XM_011523880.2:c.550A>G, XM_011523880.1:c.550A>G, XM_017024678.2:c.460A>G, XM_017024678.1:c.460A>G, XM_017024681.2:c.460A>G, XM_017024681.1:c.460A>G, XM_047436128.1:c.460A>G, XM_047436130.1:c.460A>G, XM_047436129.1:c.460A>G, NP_005955.3:p.Ile154Val, NP_001242941.1:p.Ile154Val, NP_001243024.1:p.Ile154Val, NP_001362195.1:p.Ile154Val, XP_011522177.1:p.Ile184Val, XP_011522180.1:p.Ile184Val, XP_011522181.1:p.Ile184Val, XP_011522182.1:p.Ile184Val, XP_016880167.1:p.Ile154Val, XP_016880170.1:p.Ile154Val, XP_047292084.1:p.Ile154Val, XP_047292086.1:p.Ile154Val, XP_047292085.1:p.Ile154Val

Select item 14879662744.

rs1487966274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8492347 (GRCh38)
17:8395665 (GRCh37)
Canonical SPDI:: NC_000017.11:8492346:G:T
Gene:: MYH10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8492347G>T, NC_000017.10:g.8395665G>T, NG_042305.2:g.143415C>A, NM_005964.5:c.4528C>A, NM_005964.4:c.4528C>A, NM_005964.3:c.4528C>A, NM_001256012.3:c.4621C>A, NM_001256012.2:c.4621C>A, NM_001256012.1:c.4621C>A, NM_001256095.2:c.4555C>A, NM_001256095.1:c.4555C>A, NM_001375266.1:c.4558C>A, XM_011523875.3:c.4711C>A, XM_011523875.2:c.4711C>A, XM_011523875.1:c.4711C>A, XM_011523878.3:c.4648C>A, XM_011523878.2:c.4648C>A, XM_011523878.1:c.4648C>A, XM_011523879.3:c.4645C>A, XM_011523879.2:c.4645C>A, XM_011523879.1:c.4645C>A, XM_011523880.3:c.4618C>A, XM_011523880.2:c.4618C>A, XM_011523880.1:c.4618C>A, XM_017024678.2:c.4558C>A, XM_017024678.1:c.4558C>A, XM_017024681.2:c.4528C>A, XM_017024681.1:c.4528C>A, XM_047436128.1:c.4558C>A, XM_047436130.1:c.4558C>A, XM_047436129.1:c.4558C>A

Select item 14877922255.

rs1487792225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8623236 (GRCh38)
17:8526554 (GRCh37)
Canonical SPDI:: NC_000017.11:8623235:C:T
Gene:: MYH10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.8623236C>T, NC_000017.10:g.8526554C>T, NG_042305.2:g.12526G>A, NM_005964.5:c.11G>A, NM_005964.4:c.11G>A, NM_005964.3:c.11G>A, NM_001256012.3:c.11G>A, NM_001256012.2:c.11G>A, NM_001256012.1:c.11G>A, NM_001256095.2:c.11G>A, NM_001256095.1:c.11G>A, NM_001375266.1:c.11G>A, XM_011523875.3:c.101G>A, XM_011523875.2:c.101G>A, XM_011523875.1:c.101G>A, XM_011523878.3:c.101G>A, XM_011523878.2:c.101G>A, XM_011523878.1:c.101G>A, XM_011523879.3:c.101G>A, XM_011523879.2:c.101G>A, XM_011523879.1:c.101G>A, XM_011523880.3:c.101G>A, XM_011523880.2:c.101G>A, XM_011523880.1:c.101G>A, XM_017024678.2:c.11G>A, XM_017024678.1:c.11G>A, XM_017024681.2:c.11G>A, XM_017024681.1:c.11G>A, XM_047436128.1:c.11G>A, XM_047436130.1:c.11G>A, XM_047436129.1:c.11G>A, NP_005955.3:p.Arg4Lys, NP_001242941.1:p.Arg4Lys, NP_001243024.1:p.Arg4Lys, NP_001362195.1:p.Arg4Lys, XP_011522177.1:p.Arg34Lys, XP_011522180.1:p.Arg34Lys, XP_011522181.1:p.Arg34Lys, XP_011522182.1:p.Arg34Lys, XP_016880167.1:p.Arg4Lys, XP_016880170.1:p.Arg4Lys, XP_047292084.1:p.Arg4Lys, XP_047292086.1:p.Arg4Lys, XP_047292085.1:p.Arg4Lys

Select item 14871617566.

rs1487161756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8475832 (GRCh38)
17:8379150 (GRCh37)
Canonical SPDI:: NC_000017.11:8475831:T:C
Gene:: MYH10 (Varview)
Functional Consequence:: coding_sequence_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_000017.11:g.8475832T>C, NC_000017.10:g.8379150T>C, NG_042305.2:g.159930A>G, NM_005964.5:c.5903A>G, NM_005964.4:c.5903A>G, NM_005964.3:c.5903A>G, NM_001256012.3:c.5996A>G, NM_001256012.2:c.5996A>G, NM_001256012.1:c.5996A>G, NM_001256095.2:c.5930A>G, NM_001256095.1:c.5930A>G, NM_001375266.1:c.5933A>G, XM_011523875.3:c.6086A>G, XM_011523875.2:c.6086A>G, XM_011523875.1:c.6086A>G, XM_011523878.3:c.6023A>G, XM_011523878.2:c.6023A>G, XM_011523878.1:c.6023A>G, XM_011523879.3:c.6020A>G, XM_011523879.2:c.6020A>G, XM_011523879.1:c.6020A>G, XM_011523880.3:c.5993A>G, XM_011523880.2:c.5993A>G, XM_011523880.1:c.5993A>G, XM_017024678.2:c.5933A>G, XM_017024678.1:c.5933A>G, XM_017024681.2:c.5903A>G, XM_017024681.1:c.5903A>G, XM_047436128.1:c.5933A>G, XM_047436130.1:c.5933A>G, XM_047436129.1:c.5933A>G, NP_005955.3:p.Asn1968Ser, NP_001242941.1:p.Asn1999Ser, NP_001243024.1:p.Asn1977Ser, NP_001362195.1:p.Asn1978Ser, XP_011522177.1:p.Asn2029Ser, XP_011522180.1:p.Asn2008Ser, XP_011522181.1:p.Asn2007Ser, XP_011522182.1:p.Asn1998Ser, XP_016880167.1:p.Asn1978Ser, XP_016880170.1:p.Asn1968Ser, XP_047292084.1:p.Asn1978Ser, XP_047292086.1:p.Asn1978Ser, XP_047292085.1:p.Asn1978Ser

Select item 14868221207.

rs1486822120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8492444 (GRCh38)
17:8395762 (GRCh37)
Canonical SPDI:: NC_000017.11:8492443:C:T
Gene:: MYH10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.000011/3 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.8492444C>T, NC_000017.10:g.8395762C>T, NG_042305.2:g.143318G>A, NM_005964.5:c.4431G>A, NM_005964.4:c.4431G>A, NM_005964.3:c.4431G>A, NM_001256012.3:c.4524G>A, NM_001256012.2:c.4524G>A, NM_001256012.1:c.4524G>A, NM_001256095.2:c.4458G>A, NM_001256095.1:c.4458G>A, NM_001375266.1:c.4461G>A, XM_011523875.3:c.4614G>A, XM_011523875.2:c.4614G>A, XM_011523875.1:c.4614G>A, XM_011523878.3:c.4551G>A, XM_011523878.2:c.4551G>A, XM_011523878.1:c.4551G>A, XM_011523879.3:c.4548G>A, XM_011523879.2:c.4548G>A, XM_011523879.1:c.4548G>A, XM_011523880.3:c.4521G>A, XM_011523880.2:c.4521G>A, XM_011523880.1:c.4521G>A, XM_017024678.2:c.4461G>A, XM_017024678.1:c.4461G>A, XM_017024681.2:c.4431G>A, XM_017024681.1:c.4431G>A, XM_047436128.1:c.4461G>A, XM_047436130.1:c.4461G>A, XM_047436129.1:c.4461G>A

Select item 14867061578.

rs1486706157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:8521255 (GRCh38)
17:8424573 (GRCh37)
Canonical SPDI:: NC_000017.11:8521254:G:C
Gene:: MYH10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8521255G>C, NC_000017.10:g.8424573G>C, NG_042305.2:g.114507C>G, NM_005964.5:c.1895C>G, NM_005964.4:c.1895C>G, NM_005964.3:c.1895C>G, NM_001256012.3:c.1988C>G, NM_001256012.2:c.1988C>G, NM_001256012.1:c.1988C>G, NM_001256095.2:c.1922C>G, NM_001256095.1:c.1922C>G, NM_001375266.1:c.1925C>G, XM_011523875.3:c.2078C>G, XM_011523875.2:c.2078C>G, XM_011523875.1:c.2078C>G, XM_011523878.3:c.2015C>G, XM_011523878.2:c.2015C>G, XM_011523878.1:c.2015C>G, XM_011523879.3:c.2012C>G, XM_011523879.2:c.2012C>G, XM_011523879.1:c.2012C>G, XM_011523880.3:c.1985C>G, XM_011523880.2:c.1985C>G, XM_011523880.1:c.1985C>G, XM_017024678.2:c.1925C>G, XM_017024678.1:c.1925C>G, XM_017024681.2:c.1895C>G, XM_017024681.1:c.1895C>G, XM_047436128.1:c.1925C>G, XM_047436130.1:c.1925C>G, XM_047436129.1:c.1925C>G, NP_005955.3:p.Thr632Ser, NP_001242941.1:p.Thr663Ser, NP_001243024.1:p.Thr641Ser, NP_001362195.1:p.Thr642Ser, XP_011522177.1:p.Thr693Ser, XP_011522180.1:p.Thr672Ser, XP_011522181.1:p.Thr671Ser, XP_011522182.1:p.Thr662Ser, XP_016880167.1:p.Thr642Ser, XP_016880170.1:p.Thr632Ser, XP_047292084.1:p.Thr642Ser, XP_047292086.1:p.Thr642Ser, XP_047292085.1:p.Thr642Ser

Select item 14860768729.

rs1486076872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:8548758 (GRCh38)
17:8452076 (GRCh37)
Canonical SPDI:: NC_000017.11:8548757:A:T
Gene:: MYH10 (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)
HGVS:: NC_000017.11:g.8548758A>T, NC_000017.10:g.8452076A>T, NG_042305.2:g.87004T>A, NM_005964.5:c.919T>A, NM_005964.4:c.919T>A, NM_005964.3:c.919T>A, NM_001256012.3:c.949T>A, NM_001256012.2:c.949T>A, NM_001256012.1:c.949T>A, NM_001256095.2:c.946T>A, NM_001256095.1:c.946T>A, NM_001375266.1:c.949T>A, XM_011523875.3:c.1039T>A, XM_011523875.2:c.1039T>A, XM_011523875.1:c.1039T>A, XM_011523878.3:c.1039T>A, XM_011523878.2:c.1039T>A, XM_011523878.1:c.1039T>A, XM_011523879.3:c.1036T>A, XM_011523879.2:c.1036T>A, XM_011523879.1:c.1036T>A, XM_011523880.3:c.1009T>A, XM_011523880.2:c.1009T>A, XM_011523880.1:c.1009T>A, XM_017024678.2:c.949T>A, XM_017024678.1:c.949T>A, XM_017024681.2:c.919T>A, XM_017024681.1:c.919T>A, XM_047436128.1:c.949T>A, XM_047436130.1:c.949T>A, XM_047436129.1:c.949T>A, NP_005955.3:p.Tyr307Asn, NP_001242941.1:p.Tyr317Asn, NP_001243024.1:p.Tyr316Asn, NP_001362195.1:p.Tyr317Asn, XP_011522177.1:p.Tyr347Asn, XP_011522180.1:p.Tyr347Asn, XP_011522181.1:p.Tyr346Asn, XP_011522182.1:p.Tyr337Asn, XP_016880167.1:p.Tyr317Asn, XP_016880170.1:p.Tyr307Asn, XP_047292084.1:p.Tyr317Asn, XP_047292086.1:p.Tyr317Asn, XP_047292085.1:p.Tyr317Asn

Select item 148557647310.

rs1485576473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8542182 (GRCh38)
17:8445500 (GRCh37)
Canonical SPDI:: NC_000017.11:8542181:C:T
Gene:: MYH10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8542182C>T, NC_000017.10:g.8445500C>T, NG_042305.2:g.93580G>A, NM_005964.5:c.1500G>A, NM_005964.4:c.1500G>A, NM_005964.3:c.1500G>A, NM_001256012.3:c.1530G>A, NM_001256012.2:c.1530G>A, NM_001256012.1:c.1530G>A, NM_001256095.2:c.1527G>A, NM_001256095.1:c.1527G>A, NM_001375266.1:c.1530G>A, XM_011523875.3:c.1620G>A, XM_011523875.2:c.1620G>A, XM_011523875.1:c.1620G>A, XM_011523878.3:c.1620G>A, XM_011523878.2:c.1620G>A, XM_011523878.1:c.1620G>A, XM_011523879.3:c.1617G>A, XM_011523879.2:c.1617G>A, XM_011523879.1:c.1617G>A, XM_011523880.3:c.1590G>A, XM_011523880.2:c.1590G>A, XM_011523880.1:c.1590G>A, XM_017024678.2:c.1530G>A, XM_017024678.1:c.1530G>A, XM_017024681.2:c.1500G>A, XM_017024681.1:c.1500G>A, XM_047436128.1:c.1530G>A, XM_047436130.1:c.1530G>A, XM_047436129.1:c.1530G>A

Select item 148279900411.

rs1482799004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8577325 (GRCh38)
17:8480643 (GRCh37)
Canonical SPDI:: NC_000017.11:8577324:C:A
Gene:: MYH10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8577325C>A, NC_000017.10:g.8480643C>A, NG_042305.2:g.58437G>T, NM_005964.5:c.544G>T, NM_005964.4:c.544G>T, NM_005964.3:c.544G>T, NM_001256012.3:c.544G>T, NM_001256012.2:c.544G>T, NM_001256012.1:c.544G>T, NM_001256095.2:c.544G>T, NM_001256095.1:c.544G>T, NM_001375266.1:c.544G>T, XM_011523875.3:c.634G>T, XM_011523875.2:c.634G>T, XM_011523875.1:c.634G>T, XM_011523878.3:c.634G>T, XM_011523878.2:c.634G>T, XM_011523878.1:c.634G>T, XM_011523879.3:c.634G>T, XM_011523879.2:c.634G>T, XM_011523879.1:c.634G>T, XM_011523880.3:c.634G>T, XM_011523880.2:c.634G>T, XM_011523880.1:c.634G>T, XM_017024678.2:c.544G>T, XM_017024678.1:c.544G>T, XM_017024681.2:c.544G>T, XM_017024681.1:c.544G>T, XM_047436128.1:c.544G>T, XM_047436130.1:c.544G>T, XM_047436129.1:c.544G>T, NP_005955.3:p.Ala182Ser, NP_001242941.1:p.Ala182Ser, NP_001243024.1:p.Ala182Ser, NP_001362195.1:p.Ala182Ser, XP_011522177.1:p.Ala212Ser, XP_011522180.1:p.Ala212Ser, XP_011522181.1:p.Ala212Ser, XP_011522182.1:p.Ala212Ser, XP_016880167.1:p.Ala182Ser, XP_016880170.1:p.Ala182Ser, XP_047292084.1:p.Ala182Ser, XP_047292086.1:p.Ala182Ser, XP_047292085.1:p.Ala182Ser

Select item 148240981512.

rs1482409815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8520945 (GRCh38)
17:8424263 (GRCh37)
Canonical SPDI:: NC_000017.11:8520944:G:A
Gene:: MYH10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8520945G>A, NC_000017.10:g.8424263G>A, NG_042305.2:g.114817C>T, NM_005964.5:c.2113C>T, NM_005964.4:c.2113C>T, NM_005964.3:c.2113C>T, NM_001256012.3:c.2206C>T, NM_001256012.2:c.2206C>T, NM_001256012.1:c.2206C>T, NM_001256095.2:c.2140C>T, NM_001256095.1:c.2140C>T, NM_001375266.1:c.2143C>T, XM_011523875.3:c.2296C>T, XM_011523875.2:c.2296C>T, XM_011523875.1:c.2296C>T, XM_011523878.3:c.2233C>T, XM_011523878.2:c.2233C>T, XM_011523878.1:c.2233C>T, XM_011523879.3:c.2230C>T, XM_011523879.2:c.2230C>T, XM_011523879.1:c.2230C>T, XM_011523880.3:c.2203C>T, XM_011523880.2:c.2203C>T, XM_011523880.1:c.2203C>T, XM_017024678.2:c.2143C>T, XM_017024678.1:c.2143C>T, XM_017024681.2:c.2113C>T, XM_017024681.1:c.2113C>T, XM_047436128.1:c.2143C>T, XM_047436130.1:c.2143C>T, XM_047436129.1:c.2143C>T

Select item 148189231013.

rs1481892310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8480434 (GRCh38)
17:8383752 (GRCh37)
Canonical SPDI:: NC_000017.11:8480433:G:A
Gene:: MYH10 (Varview), LOC107987245 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.8480434G>A, NC_000017.10:g.8383752G>A, NG_042305.2:g.155328C>T, NM_005964.5:c.5263C>T, NM_005964.4:c.5263C>T, NM_005964.3:c.5263C>T, NM_001256012.3:c.5356C>T, NM_001256012.2:c.5356C>T, NM_001256012.1:c.5356C>T, NM_001256095.2:c.5290C>T, NM_001256095.1:c.5290C>T, NM_001375266.1:c.5293C>T, XM_011523875.3:c.5446C>T, XM_011523875.2:c.5446C>T, XM_011523875.1:c.5446C>T, XM_011523878.3:c.5383C>T, XM_011523878.2:c.5383C>T, XM_011523878.1:c.5383C>T, XM_011523879.3:c.5380C>T, XM_011523879.2:c.5380C>T, XM_011523879.1:c.5380C>T, XM_011523880.3:c.5353C>T, XM_011523880.2:c.5353C>T, XM_011523880.1:c.5353C>T, XM_017024678.2:c.5293C>T, XM_017024678.1:c.5293C>T, XM_017024681.2:c.5263C>T, XM_017024681.1:c.5263C>T, XM_047436128.1:c.5293C>T, XM_047436130.1:c.5293C>T, XM_047436129.1:c.5293C>T, NP_005955.3:p.Leu1755Phe, NP_001242941.1:p.Leu1786Phe, NP_001243024.1:p.Leu1764Phe, NP_001362195.1:p.Leu1765Phe, XP_011522177.1:p.Leu1816Phe, XP_011522180.1:p.Leu1795Phe, XP_011522181.1:p.Leu1794Phe, XP_011522182.1:p.Leu1785Phe, XP_016880167.1:p.Leu1765Phe, XP_016880170.1:p.Leu1755Phe, XP_047292084.1:p.Leu1765Phe, XP_047292086.1:p.Leu1765Phe, XP_047292085.1:p.Leu1765Phe

Select item 148144744414.

rs1481447444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8520880 (GRCh38)
17:8424198 (GRCh37)
Canonical SPDI:: NC_000017.11:8520879:C:T
Gene:: MYH10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.8520880C>T, NC_000017.10:g.8424198C>T, NG_042305.2:g.114882G>A, NM_005964.5:c.2178G>A, NM_005964.4:c.2178G>A, NM_005964.3:c.2178G>A, NM_001256012.3:c.2271G>A, NM_001256012.2:c.2271G>A, NM_001256012.1:c.2271G>A, NM_001256095.2:c.2205G>A, NM_001256095.1:c.2205G>A, NM_001375266.1:c.2208G>A, XM_011523875.3:c.2361G>A, XM_011523875.2:c.2361G>A, XM_011523875.1:c.2361G>A, XM_011523878.3:c.2298G>A, XM_011523878.2:c.2298G>A, XM_011523878.1:c.2298G>A, XM_011523879.3:c.2295G>A, XM_011523879.2:c.2295G>A, XM_011523879.1:c.2295G>A, XM_011523880.3:c.2268G>A, XM_011523880.2:c.2268G>A, XM_011523880.1:c.2268G>A, XM_017024678.2:c.2208G>A, XM_017024678.1:c.2208G>A, XM_017024681.2:c.2178G>A, XM_017024681.1:c.2178G>A, XM_047436128.1:c.2208G>A, XM_047436130.1:c.2208G>A, XM_047436129.1:c.2208G>A

Select item 148121568015.

rs1481215680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:8623096 (GRCh38)
17:8526414 (GRCh37)
Canonical SPDI:: NC_000017.11:8623095:T:G
Gene:: MYH10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8623096T>G, NC_000017.10:g.8526414T>G, NG_042305.2:g.12666A>C, NM_005964.5:c.151A>C, NM_005964.4:c.151A>C, NM_005964.3:c.151A>C, NM_001256012.3:c.151A>C, NM_001256012.2:c.151A>C, NM_001256012.1:c.151A>C, NM_001256095.2:c.151A>C, NM_001256095.1:c.151A>C, NM_001375266.1:c.151A>C, XM_011523875.3:c.241A>C, XM_011523875.2:c.241A>C, XM_011523875.1:c.241A>C, XM_011523878.3:c.241A>C, XM_011523878.2:c.241A>C, XM_011523878.1:c.241A>C, XM_011523879.3:c.241A>C, XM_011523879.2:c.241A>C, XM_011523879.1:c.241A>C, XM_011523880.3:c.241A>C, XM_011523880.2:c.241A>C, XM_011523880.1:c.241A>C, XM_017024678.2:c.151A>C, XM_017024678.1:c.151A>C, XM_017024681.2:c.151A>C, XM_017024681.1:c.151A>C, XM_047436128.1:c.151A>C, XM_047436130.1:c.151A>C, XM_047436129.1:c.151A>C, NP_005955.3:p.Lys51Gln, NP_001242941.1:p.Lys51Gln, NP_001243024.1:p.Lys51Gln, NP_001362195.1:p.Lys51Gln, XP_011522177.1:p.Lys81Gln, XP_011522180.1:p.Lys81Gln, XP_011522181.1:p.Lys81Gln, XP_011522182.1:p.Lys81Gln, XP_016880167.1:p.Lys51Gln, XP_016880170.1:p.Lys51Gln, XP_047292084.1:p.Lys51Gln, XP_047292086.1:p.Lys51Gln, XP_047292085.1:p.Lys51Gln

Select item 148097587716.

rs1480975877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8577302 (GRCh38)
17:8480620 (GRCh37)
Canonical SPDI:: NC_000017.11:8577301:C:T
Gene:: MYH10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.8577302C>T, NC_000017.10:g.8480620C>T, NG_042305.2:g.58460G>A, NM_005964.5:c.567G>A, NM_005964.4:c.567G>A, NM_005964.3:c.567G>A, NM_001256012.3:c.567G>A, NM_001256012.2:c.567G>A, NM_001256012.1:c.567G>A, NM_001256095.2:c.567G>A, NM_001256095.1:c.567G>A, NM_001375266.1:c.567G>A, XM_011523875.3:c.657G>A, XM_011523875.2:c.657G>A, XM_011523875.1:c.657G>A, XM_011523878.3:c.657G>A, XM_011523878.2:c.657G>A, XM_011523878.1:c.657G>A, XM_011523879.3:c.657G>A, XM_011523879.2:c.657G>A, XM_011523879.1:c.657G>A, XM_011523880.3:c.657G>A, XM_011523880.2:c.657G>A, XM_011523880.1:c.657G>A, XM_017024678.2:c.567G>A, XM_017024678.1:c.567G>A, XM_017024681.2:c.567G>A, XM_017024681.1:c.567G>A, XM_047436128.1:c.567G>A, XM_047436130.1:c.567G>A, XM_047436129.1:c.567G>A

Select item 148023686117.

rs1480236861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8518947 (GRCh38)
17:8422265 (GRCh37)
Canonical SPDI:: NC_000017.11:8518946:A:G
Gene:: MYH10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.8518947A>G, NC_000017.10:g.8422265A>G, NG_042305.2:g.116815T>C, NM_005964.5:c.2184T>C, NM_005964.4:c.2184T>C, NM_005964.3:c.2184T>C, NM_001256012.3:c.2277T>C, NM_001256012.2:c.2277T>C, NM_001256012.1:c.2277T>C, NM_001256095.2:c.2211T>C, NM_001256095.1:c.2211T>C, NM_001375266.1:c.2214T>C, XM_011523875.3:c.2367T>C, XM_011523875.2:c.2367T>C, XM_011523875.1:c.2367T>C, XM_011523878.3:c.2304T>C, XM_011523878.2:c.2304T>C, XM_011523878.1:c.2304T>C, XM_011523879.3:c.2301T>C, XM_011523879.2:c.2301T>C, XM_011523879.1:c.2301T>C, XM_011523880.3:c.2274T>C, XM_011523880.2:c.2274T>C, XM_011523880.1:c.2274T>C, XM_017024678.2:c.2214T>C, XM_017024678.1:c.2214T>C, XM_017024681.2:c.2184T>C, XM_017024681.1:c.2184T>C, XM_047436128.1:c.2214T>C, XM_047436130.1:c.2214T>C, XM_047436129.1:c.2214T>C

Select item 148012880618.

rs1480128806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:8500864 (GRCh38)
17:8404182 (GRCh37)
Canonical SPDI:: NC_000017.11:8500863:G:C
Gene:: MYH10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.8500864G>C, NC_000017.10:g.8404182G>C, NG_042305.2:g.134898C>G, NM_005964.5:c.3613C>G, NM_005964.4:c.3613C>G, NM_005964.3:c.3613C>G, NM_001256012.3:c.3706C>G, NM_001256012.2:c.3706C>G, NM_001256012.1:c.3706C>G, NM_001256095.2:c.3640C>G, NM_001256095.1:c.3640C>G, NM_001375266.1:c.3643C>G, XM_011523875.3:c.3796C>G, XM_011523875.2:c.3796C>G, XM_011523875.1:c.3796C>G, XM_011523878.3:c.3733C>G, XM_011523878.2:c.3733C>G, XM_011523878.1:c.3733C>G, XM_011523879.3:c.3730C>G, XM_011523879.2:c.3730C>G, XM_011523879.1:c.3730C>G, XM_011523880.3:c.3703C>G, XM_011523880.2:c.3703C>G, XM_011523880.1:c.3703C>G, XM_017024678.2:c.3643C>G, XM_017024678.1:c.3643C>G, XM_017024681.2:c.3613C>G, XM_017024681.1:c.3613C>G, XM_047436128.1:c.3643C>G, XM_047436130.1:c.3643C>G, XM_047436129.1:c.3643C>G, NP_005955.3:p.Leu1205Val, NP_001242941.1:p.Leu1236Val, NP_001243024.1:p.Leu1214Val, NP_001362195.1:p.Leu1215Val, XP_011522177.1:p.Leu1266Val, XP_011522180.1:p.Leu1245Val, XP_011522181.1:p.Leu1244Val, XP_011522182.1:p.Leu1235Val, XP_016880167.1:p.Leu1215Val, XP_016880170.1:p.Leu1205Val, XP_047292084.1:p.Leu1215Val, XP_047292086.1:p.Leu1215Val, XP_047292085.1:p.Leu1215Val

Select item 147998868919.

rs1479988689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:8484237 (GRCh38)
17:8387555 (GRCh37)
Canonical SPDI:: NC_000017.11:8484236:T:G
Gene:: MYH10 (Varview), LOC107987245 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8484237T>G, NC_000017.10:g.8387555T>G, NG_042305.2:g.151525A>C, NM_005964.5:c.4983A>C, NM_005964.4:c.4983A>C, NM_005964.3:c.4983A>C, NM_001256012.3:c.5076A>C, NM_001256012.2:c.5076A>C, NM_001256012.1:c.5076A>C, NM_001256095.2:c.5010A>C, NM_001256095.1:c.5010A>C, NM_001375266.1:c.5013A>C, XM_011523875.3:c.5166A>C, XM_011523875.2:c.5166A>C, XM_011523875.1:c.5166A>C, XM_011523878.3:c.5103A>C, XM_011523878.2:c.5103A>C, XM_011523878.1:c.5103A>C, XM_011523879.3:c.5100A>C, XM_011523879.2:c.5100A>C, XM_011523879.1:c.5100A>C, XM_011523880.3:c.5073A>C, XM_011523880.2:c.5073A>C, XM_011523880.1:c.5073A>C, XR_001752780.3:n.1447T>G, XR_001752780.2:n.1275T>G, XR_001752780.1:n.1468T>G, XM_017024678.2:c.5013A>C, XM_017024678.1:c.5013A>C, XM_017024681.2:c.4983A>C, XM_017024681.1:c.4983A>C, XM_047436128.1:c.5013A>C, XM_047436130.1:c.5013A>C, XM_047436129.1:c.5013A>C, NP_005955.3:p.Leu1661Phe, NP_001242941.1:p.Leu1692Phe, NP_001243024.1:p.Leu1670Phe, NP_001362195.1:p.Leu1671Phe, XP_011522177.1:p.Leu1722Phe, XP_011522180.1:p.Leu1701Phe, XP_011522181.1:p.Leu1700Phe, XP_011522182.1:p.Leu1691Phe, XP_016880167.1:p.Leu1671Phe, XP_016880170.1:p.Leu1661Phe, XP_047292084.1:p.Leu1671Phe, XP_047292086.1:p.Leu1671Phe, XP_047292085.1:p.Leu1671Phe

Select item 147946675320.

rs1479466753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8475826 (GRCh38)
17:8379144 (GRCh37)
Canonical SPDI:: NC_000017.11:8475825:G:A
Gene:: MYH10 (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_000017.11:g.8475826G>A, NC_000017.10:g.8379144G>A, NG_042305.2:g.159936C>T, NM_005964.5:c.5909C>T, NM_005964.4:c.5909C>T, NM_005964.3:c.5909C>T, NM_001256012.3:c.6002C>T, NM_001256012.2:c.6002C>T, NM_001256012.1:c.6002C>T, NM_001256095.2:c.5936C>T, NM_001256095.1:c.5936C>T, NM_001375266.1:c.5939C>T, XM_011523875.3:c.6092C>T, XM_011523875.2:c.6092C>T, XM_011523875.1:c.6092C>T, XM_011523878.3:c.6029C>T, XM_011523878.2:c.6029C>T, XM_011523878.1:c.6029C>T, XM_011523879.3:c.6026C>T, XM_011523879.2:c.6026C>T, XM_011523879.1:c.6026C>T, XM_011523880.3:c.5999C>T, XM_011523880.2:c.5999C>T, XM_011523880.1:c.5999C>T, XM_017024678.2:c.5939C>T, XM_017024678.1:c.5939C>T, XM_017024681.2:c.5909C>T, XM_017024681.1:c.5909C>T, XM_047436128.1:c.5939C>T, XM_047436130.1:c.5939C>T, XM_047436129.1:c.5939C>T, NP_005955.3:p.Thr1970Met, NP_001242941.1:p.Thr2001Met, NP_001243024.1:p.Thr1979Met, NP_001362195.1:p.Thr1980Met, XP_011522177.1:p.Thr2031Met, XP_011522180.1:p.Thr2010Met, XP_011522181.1:p.Thr2009Met, XP_011522182.1:p.Thr2000Met, XP_016880167.1:p.Thr1980Met, XP_016880170.1:p.Thr1970Met, XP_047292084.1:p.Thr1980Met, XP_047292086.1:p.Thr1980Met, XP_047292085.1:p.Thr1980Met

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