SNP Links for Protein (Select 4759114) - SNP

Links from Protein

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Select item 14915556891.

rs1491555689 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:110363813 (GRCh38)
1:110906435 (GRCh37)
Canonical SPDI:: NC_000001.11:110363812:AG:
Gene:: SLC16A4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110363813_110363814del, NC_000001.10:g.110906435_110906436del, XM_005271317.6:c.1416_1417del, XM_005271317.5:c.1416_1417del, XM_005271317.4:c.1416_1417del, XM_005271317.3:c.1416_1417del, XM_005271317.2:c.1416_1417del, XM_005271317.1:c.1416_1417del, XM_006711033.4:c.1086_1087del, XM_006711033.3:c.1086_1087del, XM_006711033.2:c.1086_1087del, XM_006711033.1:c.1086_1087del, NM_004696.3:c.1416_1417del, NM_004696.2:c.1416_1417del, NM_001201547.2:c.1230_1231del, NM_001201547.1:c.1230_1231del, NM_001201546.2:c.1272_1273del, NM_001201546.1:c.1272_1273del, NM_001201548.2:c.1106_1107del, NM_001201548.1:c.1106_1107del, NM_001201549.2:c.912_913del, NM_001201549.1:c.912_913del, NM_001319220.2:c.726_727del, NM_001319220.1:c.726_727del, XM_047433967.1:c.1230_1231del, XM_047433980.1:c.912_913del, XM_047433990.1:c.726_727del, XM_047433986.1:c.768_769del, XP_005271374.1:p.Phe475fs, XP_006711096.1:p.Phe365fs, NP_004687.1:p.Phe475fs, NP_001188476.1:p.Phe413fs, NP_001188475.1:p.Phe427fs, NP_001188477.1:p.Pro369fs, NP_001188478.1:p.Phe307fs, NP_001306149.1:p.Phe245fs, XP_047289923.1:p.Phe413fs, XP_047289936.1:p.Phe307fs, XP_047289946.1:p.Phe245fs, XP_047289942.1:p.Phe259fs

Select item 14912620292.

rs1491262029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:110363813 (GRCh38)
1:110906436 (GRCh37)
Canonical SPDI:: NC_000001.11:110363813:GG:GGG
Gene:: SLC16A4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.110363815dup, NC_000001.10:g.110906437dup, XM_005271317.6:c.1416dup, XM_005271317.5:c.1416dup, XM_005271317.4:c.1416dup, XM_005271317.3:c.1416dup, XM_005271317.2:c.1416dup, XM_005271317.1:c.1416dup, XM_006711033.4:c.1086dup, XM_006711033.3:c.1086dup, XM_006711033.2:c.1086dup, XM_006711033.1:c.1086dup, NM_004696.3:c.1416dup, NM_004696.2:c.1416dup, NM_001201547.2:c.1230dup, NM_001201547.1:c.1230dup, NM_001201546.2:c.1272dup, NM_001201546.1:c.1272dup, NM_001201548.2:c.1106dup, NM_001201548.1:c.1106dup, NM_001201549.2:c.912dup, NM_001201549.1:c.912dup, NM_001319220.2:c.726dup, NM_001319220.1:c.726dup, XM_047433967.1:c.1230dup, XM_047433980.1:c.912dup, XM_047433990.1:c.726dup, XM_047433986.1:c.768dup, XP_005271374.1:p.Phe473fs, XP_006711096.1:p.Phe363fs, NP_004687.1:p.Phe473fs, NP_001188476.1:p.Phe411fs, NP_001188475.1:p.Phe425fs, NP_001188477.1:p.Leu372fs, NP_001188478.1:p.Phe305fs, NP_001306149.1:p.Phe243fs, XP_047289923.1:p.Phe411fs, XP_047289936.1:p.Phe305fs, XP_047289946.1:p.Phe243fs, XP_047289942.1:p.Phe257fs

Select item 14909692733.

rs1490969273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:110379196 (GRCh38)
1:110921818 (GRCh37)
Canonical SPDI:: NC_000001.11:110379195:G:A
Gene:: SLC16A4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110379196G>A, NC_000001.10:g.110921818G>A, XM_005271317.6:c.687C>T, XM_005271317.5:c.687C>T, XM_005271317.4:c.687C>T, XM_005271317.3:c.687C>T, XM_005271317.2:c.687C>T, XM_005271317.1:c.687C>T, XM_006711033.4:c.357C>T, XM_006711033.3:c.357C>T, XM_006711033.2:c.357C>T, XM_006711033.1:c.357C>T, NM_004696.3:c.687C>T, NM_004696.2:c.687C>T, NM_001201547.2:c.501C>T, NM_001201547.1:c.501C>T, NM_001201546.2:c.543C>T, NM_001201546.1:c.543C>T, NM_001201548.2:c.357C>T, NM_001201548.1:c.357C>T, XM_047433967.1:c.501C>T

Select item 14862404824.

rs1486240482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:110379286 (GRCh38)
1:110921908 (GRCh37)
Canonical SPDI:: NC_000001.11:110379285:A:C
Gene:: SLC16A4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110379286A>C, NC_000001.10:g.110921908A>C, XM_005271317.6:c.597T>G, XM_005271317.5:c.597T>G, XM_005271317.4:c.597T>G, XM_005271317.3:c.597T>G, XM_005271317.2:c.597T>G, XM_005271317.1:c.597T>G, XM_006711033.4:c.267T>G, XM_006711033.3:c.267T>G, XM_006711033.2:c.267T>G, XM_006711033.1:c.267T>G, NM_004696.3:c.597T>G, NM_004696.2:c.597T>G, NM_001201547.2:c.411T>G, NM_001201547.1:c.411T>G, NM_001201546.2:c.453T>G, NM_001201546.1:c.453T>G, NM_001201548.2:c.267T>G, NM_001201548.1:c.267T>G, XM_047433967.1:c.411T>G, XP_005271374.1:p.His199Gln, XP_006711096.1:p.His89Gln, NP_004687.1:p.His199Gln, NP_001188476.1:p.His137Gln, NP_001188475.1:p.His151Gln, NP_001188477.1:p.His89Gln, XP_047289923.1:p.His137Gln

Select item 14840192325.

rs1484019232 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:110389284 (GRCh38)
1:110931906 (GRCh37)
Canonical SPDI:: NC_000001.11:110389283:TTTT:TTT
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110389287del, NC_000001.10:g.110931909del, XM_005271317.6:c.40del, XM_005271317.5:c.40del, XM_005271317.4:c.40del, XM_005271317.3:c.40del, XM_005271317.2:c.40del, XM_005271317.1:c.40del, XM_006711033.4:c.-14del, XM_006711033.3:c.-14del, XM_006711033.2:c.-14del, XM_006711033.1:c.-14del, NM_004696.3:c.40del, NM_004696.2:c.40del, NM_001201547.2:c.-14del, NM_001201547.1:c.-14del, NM_001201546.2:c.40del, NM_001201546.1:c.40del, NM_001201548.2:c.-14del, NM_001201548.1:c.-14del, NM_001201549.2:c.40del, NM_001201549.1:c.40del, NM_001319220.2:c.-14del, NM_001319220.1:c.-14del, XM_047433967.1:c.-14del, XM_047433980.1:c.40del, XM_047433990.1:c.-14del, XM_047433986.1:c.40del, XP_005271374.1:p.Thr14fs, NP_004687.1:p.Thr14fs, NP_001188475.1:p.Thr14fs, NP_001188478.1:p.Thr14fs, XP_047289936.1:p.Thr14fs, XP_047289942.1:p.Thr14fs

Select item 14816217436.

rs1481621743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:110381690 (GRCh38)
1:110924312 (GRCh37)
Canonical SPDI:: NC_000001.11:110381689:C:A
Gene:: SLC16A4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.110381690C>A, NC_000001.10:g.110924312C>A, XM_005271317.6:c.326G>T, XM_005271317.5:c.326G>T, XM_005271317.4:c.326G>T, XM_005271317.3:c.326G>T, XM_005271317.2:c.326G>T, XM_005271317.1:c.326G>T, NM_004696.3:c.326G>T, NM_004696.2:c.326G>T, NM_001201547.2:c.140G>T, NM_001201547.1:c.140G>T, NM_001201549.2:c.326G>T, NM_001201549.1:c.326G>T, NM_001319220.2:c.140G>T, NM_001319220.1:c.140G>T, XM_047433967.1:c.140G>T, XM_047433980.1:c.326G>T, XM_047433990.1:c.140G>T, XP_005271374.1:p.Ser109Ile, NP_004687.1:p.Ser109Ile, NP_001188476.1:p.Ser47Ile, NP_001188478.1:p.Ser109Ile, NP_001306149.1:p.Ser47Ile, XP_047289923.1:p.Ser47Ile, XP_047289936.1:p.Ser109Ile, XP_047289946.1:p.Ser47Ile

Select item 14807003047.

rs1480700304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:110377019 (GRCh38)
1:110919641 (GRCh37)
Canonical SPDI:: NC_000001.11:110377018:T:C
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.110377019T>C, NC_000001.10:g.110919641T>C, XM_005271317.6:c.1173A>G, XM_005271317.5:c.1173A>G, XM_005271317.4:c.1173A>G, XM_005271317.3:c.1173A>G, XM_005271317.2:c.1173A>G, XM_005271317.1:c.1173A>G, XM_006711033.4:c.843A>G, XM_006711033.3:c.843A>G, XM_006711033.2:c.843A>G, XM_006711033.1:c.843A>G, NM_004696.3:c.1173A>G, NM_004696.2:c.1173A>G, NM_001201547.2:c.987A>G, NM_001201547.1:c.987A>G, NM_001201546.2:c.1029A>G, NM_001201546.1:c.1029A>G, NM_001201548.2:c.843A>G, NM_001201548.1:c.843A>G, NM_001201549.2:c.669A>G, NM_001201549.1:c.669A>G, NM_001319220.2:c.483A>G, NM_001319220.1:c.483A>G, XM_047433967.1:c.987A>G, XM_047433980.1:c.669A>G, XM_047433990.1:c.483A>G, XM_047433986.1:c.525A>G

Select item 14792961798.

rs1479296179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:110381757 (GRCh38)
1:110924379 (GRCh37)
Canonical SPDI:: NC_000001.11:110381756:T:C
Gene:: SLC16A4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.110381757T>C, NC_000001.10:g.110924379T>C, XM_005271317.6:c.259A>G, XM_005271317.5:c.259A>G, XM_005271317.4:c.259A>G, XM_005271317.3:c.259A>G, XM_005271317.2:c.259A>G, XM_005271317.1:c.259A>G, NM_004696.3:c.259A>G, NM_004696.2:c.259A>G, NM_001201547.2:c.73A>G, NM_001201547.1:c.73A>G, NM_001201549.2:c.259A>G, NM_001201549.1:c.259A>G, NM_001319220.2:c.73A>G, NM_001319220.1:c.73A>G, XM_047433967.1:c.73A>G, XM_047433980.1:c.259A>G, XM_047433990.1:c.73A>G, XP_005271374.1:p.Lys87Glu, NP_004687.1:p.Lys87Glu, NP_001188476.1:p.Lys25Glu, NP_001188478.1:p.Lys87Glu, NP_001306149.1:p.Lys25Glu, XP_047289923.1:p.Lys25Glu, XP_047289936.1:p.Lys87Glu, XP_047289946.1:p.Lys25Glu

Select item 14791513739.

rs1479151373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:110381780 (GRCh38)
1:110924402 (GRCh37)
Canonical SPDI:: NC_000001.11:110381779:A:G
Gene:: SLC16A4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110381780A>G, NC_000001.10:g.110924402A>G, XM_005271317.6:c.236T>C, XM_005271317.5:c.236T>C, XM_005271317.4:c.236T>C, XM_005271317.3:c.236T>C, XM_005271317.2:c.236T>C, XM_005271317.1:c.236T>C, NM_004696.3:c.236T>C, NM_004696.2:c.236T>C, NM_001201547.2:c.50T>C, NM_001201547.1:c.50T>C, NM_001201549.2:c.236T>C, NM_001201549.1:c.236T>C, NM_001319220.2:c.50T>C, NM_001319220.1:c.50T>C, XM_047433967.1:c.50T>C, XM_047433980.1:c.236T>C, XM_047433990.1:c.50T>C, XP_005271374.1:p.Ile79Thr, NP_004687.1:p.Ile79Thr, NP_001188476.1:p.Ile17Thr, NP_001188478.1:p.Ile79Thr, NP_001306149.1:p.Ile17Thr, XP_047289923.1:p.Ile17Thr, XP_047289936.1:p.Ile79Thr, XP_047289946.1:p.Ile17Thr

Select item 147266689310.

rs1472666893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:110378953 (GRCh38)
1:110921575 (GRCh37)
Canonical SPDI:: NC_000001.11:110378952:G:A
Gene:: SLC16A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110378953G>A, NC_000001.10:g.110921575G>A, XM_005271317.6:c.930C>T, XM_005271317.5:c.930C>T, XM_005271317.4:c.930C>T, XM_005271317.3:c.930C>T, XM_005271317.2:c.930C>T, XM_005271317.1:c.930C>T, XM_006711033.4:c.600C>T, XM_006711033.3:c.600C>T, XM_006711033.2:c.600C>T, XM_006711033.1:c.600C>T, NM_004696.3:c.930C>T, NM_004696.2:c.930C>T, NM_001201547.2:c.744C>T, NM_001201547.1:c.744C>T, NM_001201546.2:c.786C>T, NM_001201546.1:c.786C>T, NM_001201548.2:c.600C>T, NM_001201548.1:c.600C>T, XM_047433967.1:c.744C>T

Select item 147199991311.

rs1471999913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:110379032 (GRCh38)
1:110921654 (GRCh37)
Canonical SPDI:: NC_000001.11:110379031:G:A
Gene:: SLC16A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.110379032G>A, NC_000001.10:g.110921654G>A, XM_005271317.6:c.851C>T, XM_005271317.5:c.851C>T, XM_005271317.4:c.851C>T, XM_005271317.3:c.851C>T, XM_005271317.2:c.851C>T, XM_005271317.1:c.851C>T, XM_006711033.4:c.521C>T, XM_006711033.3:c.521C>T, XM_006711033.2:c.521C>T, XM_006711033.1:c.521C>T, NM_004696.3:c.851C>T, NM_004696.2:c.851C>T, NM_001201547.2:c.665C>T, NM_001201547.1:c.665C>T, NM_001201546.2:c.707C>T, NM_001201546.1:c.707C>T, NM_001201548.2:c.521C>T, NM_001201548.1:c.521C>T, XM_047433967.1:c.665C>T, XP_005271374.1:p.Ser284Leu, XP_006711096.1:p.Ser174Leu, NP_004687.1:p.Ser284Leu, NP_001188476.1:p.Ser222Leu, NP_001188475.1:p.Ser236Leu, NP_001188477.1:p.Ser174Leu, XP_047289923.1:p.Ser222Leu

Select item 147187290012.

rs1471872900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:110379029 (GRCh38)
1:110921651 (GRCh37)
Canonical SPDI:: NC_000001.11:110379028:C:T
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.110379029C>T, NC_000001.10:g.110921651C>T, XM_005271317.6:c.854G>A, XM_005271317.5:c.854G>A, XM_005271317.4:c.854G>A, XM_005271317.3:c.854G>A, XM_005271317.2:c.854G>A, XM_005271317.1:c.854G>A, XM_006711033.4:c.524G>A, XM_006711033.3:c.524G>A, XM_006711033.2:c.524G>A, XM_006711033.1:c.524G>A, NM_004696.3:c.854G>A, NM_004696.2:c.854G>A, NM_001201547.2:c.668G>A, NM_001201547.1:c.668G>A, NM_001201546.2:c.710G>A, NM_001201546.1:c.710G>A, NM_001201548.2:c.524G>A, NM_001201548.1:c.524G>A, XM_047433967.1:c.668G>A, XP_005271374.1:p.Trp285Ter, XP_006711096.1:p.Trp175Ter, NP_004687.1:p.Trp285Ter, NP_001188476.1:p.Trp223Ter, NP_001188475.1:p.Trp237Ter, NP_001188477.1:p.Trp175Ter, XP_047289923.1:p.Trp223Ter

Select item 147098705713.

rs1470987057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:110379044 (GRCh38)
1:110921666 (GRCh37)
Canonical SPDI:: NC_000001.11:110379043:T:A,NC_000001.11:110379043:T:C
Gene:: SLC16A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110379044T>A, NC_000001.11:g.110379044T>C, NC_000001.10:g.110921666T>A, NC_000001.10:g.110921666T>C, XM_005271317.6:c.839A>T, XM_005271317.6:c.839A>G, XM_005271317.5:c.839A>T, XM_005271317.5:c.839A>G, XM_005271317.4:c.839A>T, XM_005271317.4:c.839A>G, XM_005271317.3:c.839A>T, XM_005271317.3:c.839A>G, XM_005271317.2:c.839A>T, XM_005271317.2:c.839A>G, XM_005271317.1:c.839A>T, XM_005271317.1:c.839A>G, XM_006711033.4:c.509A>T, XM_006711033.4:c.509A>G, XM_006711033.3:c.509A>T, XM_006711033.3:c.509A>G, XM_006711033.2:c.509A>T, XM_006711033.2:c.509A>G, XM_006711033.1:c.509A>T, XM_006711033.1:c.509A>G, NM_004696.3:c.839A>T, NM_004696.3:c.839A>G, NM_004696.2:c.839A>T, NM_004696.2:c.839A>G, NM_001201547.2:c.653A>T, NM_001201547.2:c.653A>G, NM_001201547.1:c.653A>T, NM_001201547.1:c.653A>G, NM_001201546.2:c.695A>T, NM_001201546.2:c.695A>G, NM_001201546.1:c.695A>T, NM_001201546.1:c.695A>G, NM_001201548.2:c.509A>T, NM_001201548.2:c.509A>G, NM_001201548.1:c.509A>T, NM_001201548.1:c.509A>G, XM_047433967.1:c.653A>T, XM_047433967.1:c.653A>G, XP_005271374.1:p.Asp280Val, XP_005271374.1:p.Asp280Gly, XP_006711096.1:p.Asp170Val, XP_006711096.1:p.Asp170Gly, NP_004687.1:p.Asp280Val, NP_004687.1:p.Asp280Gly, NP_001188476.1:p.Asp218Val, NP_001188476.1:p.Asp218Gly, NP_001188475.1:p.Asp232Val, NP_001188475.1:p.Asp232Gly, NP_001188477.1:p.Asp170Val, NP_001188477.1:p.Asp170Gly, XP_047289923.1:p.Asp218Val, XP_047289923.1:p.Asp218Gly

Select item 147030528114.

rs1470305281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:110377030 (GRCh38)
1:110919652 (GRCh37)
Canonical SPDI:: NC_000001.11:110377029:T:A,NC_000001.11:110377029:T:C
Gene:: SLC16A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.110377030T>A, NC_000001.11:g.110377030T>C, NC_000001.10:g.110919652T>A, NC_000001.10:g.110919652T>C, XM_005271317.6:c.1162A>T, XM_005271317.6:c.1162A>G, XM_005271317.5:c.1162A>T, XM_005271317.5:c.1162A>G, XM_005271317.4:c.1162A>T, XM_005271317.4:c.1162A>G, XM_005271317.3:c.1162A>T, XM_005271317.3:c.1162A>G, XM_005271317.2:c.1162A>T, XM_005271317.2:c.1162A>G, XM_005271317.1:c.1162A>T, XM_005271317.1:c.1162A>G, XM_006711033.4:c.832A>T, XM_006711033.4:c.832A>G, XM_006711033.3:c.832A>T, XM_006711033.3:c.832A>G, XM_006711033.2:c.832A>T, XM_006711033.2:c.832A>G, XM_006711033.1:c.832A>T, XM_006711033.1:c.832A>G, NM_004696.3:c.1162A>T, NM_004696.3:c.1162A>G, NM_004696.2:c.1162A>T, NM_004696.2:c.1162A>G, NM_001201547.2:c.976A>T, NM_001201547.2:c.976A>G, NM_001201547.1:c.976A>T, NM_001201547.1:c.976A>G, NM_001201546.2:c.1018A>T, NM_001201546.2:c.1018A>G, NM_001201546.1:c.1018A>T, NM_001201546.1:c.1018A>G, NM_001201548.2:c.832A>T, NM_001201548.2:c.832A>G, NM_001201548.1:c.832A>T, NM_001201548.1:c.832A>G, NM_001201549.2:c.658A>T, NM_001201549.2:c.658A>G, NM_001201549.1:c.658A>T, NM_001201549.1:c.658A>G, NM_001319220.2:c.472A>T, NM_001319220.2:c.472A>G, NM_001319220.1:c.472A>T, NM_001319220.1:c.472A>G, XM_047433967.1:c.976A>T, XM_047433967.1:c.976A>G, XM_047433980.1:c.658A>T, XM_047433980.1:c.658A>G, XM_047433990.1:c.472A>T, XM_047433990.1:c.472A>G, XM_047433986.1:c.514A>T, XM_047433986.1:c.514A>G, XP_005271374.1:p.Thr388Ser, XP_005271374.1:p.Thr388Ala, XP_006711096.1:p.Thr278Ser, XP_006711096.1:p.Thr278Ala, NP_004687.1:p.Thr388Ser, NP_004687.1:p.Thr388Ala, NP_001188476.1:p.Thr326Ser, NP_001188476.1:p.Thr326Ala, NP_001188475.1:p.Thr340Ser, NP_001188475.1:p.Thr340Ala, NP_001188477.1:p.Thr278Ser, NP_001188477.1:p.Thr278Ala, NP_001188478.1:p.Thr220Ser, NP_001188478.1:p.Thr220Ala, NP_001306149.1:p.Thr158Ser, NP_001306149.1:p.Thr158Ala, XP_047289923.1:p.Thr326Ser, XP_047289923.1:p.Thr326Ala, XP_047289936.1:p.Thr220Ser, XP_047289936.1:p.Thr220Ala, XP_047289946.1:p.Thr158Ser, XP_047289946.1:p.Thr158Ala, XP_047289942.1:p.Thr172Ser, XP_047289942.1:p.Thr172Ala

Select item 146646303815.

rs1466463038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:110379073 (GRCh38)
1:110921695 (GRCh37)
Canonical SPDI:: NC_000001.11:110379072:T:G
Gene:: SLC16A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000001.11:g.110379073T>G, NC_000001.10:g.110921695T>G, XM_005271317.6:c.810A>C, XM_005271317.5:c.810A>C, XM_005271317.4:c.810A>C, XM_005271317.3:c.810A>C, XM_005271317.2:c.810A>C, XM_005271317.1:c.810A>C, XM_006711033.4:c.480A>C, XM_006711033.3:c.480A>C, XM_006711033.2:c.480A>C, XM_006711033.1:c.480A>C, NM_004696.3:c.810A>C, NM_004696.2:c.810A>C, NM_001201547.2:c.624A>C, NM_001201547.1:c.624A>C, NM_001201546.2:c.666A>C, NM_001201546.1:c.666A>C, NM_001201548.2:c.480A>C, NM_001201548.1:c.480A>C, XM_047433967.1:c.624A>C, XP_005271374.1:p.Arg270Ser, XP_006711096.1:p.Arg160Ser, NP_004687.1:p.Arg270Ser, NP_001188476.1:p.Arg208Ser, NP_001188475.1:p.Arg222Ser, NP_001188477.1:p.Arg160Ser, XP_047289923.1:p.Arg208Ser

Select item 146458355516.

rs1464583555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:110379299 (GRCh38)
1:110921921 (GRCh37)
Canonical SPDI:: NC_000001.11:110379298:A:G
Gene:: SLC16A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110379299A>G, NC_000001.10:g.110921921A>G, XM_005271317.6:c.584T>C, XM_005271317.5:c.584T>C, XM_005271317.4:c.584T>C, XM_005271317.3:c.584T>C, XM_005271317.2:c.584T>C, XM_005271317.1:c.584T>C, XM_006711033.4:c.254T>C, XM_006711033.3:c.254T>C, XM_006711033.2:c.254T>C, XM_006711033.1:c.254T>C, NM_004696.3:c.584T>C, NM_004696.2:c.584T>C, NM_001201547.2:c.398T>C, NM_001201547.1:c.398T>C, NM_001201546.2:c.440T>C, NM_001201546.1:c.440T>C, NM_001201548.2:c.254T>C, NM_001201548.1:c.254T>C, XM_047433967.1:c.398T>C, XP_005271374.1:p.Leu195Ser, XP_006711096.1:p.Leu85Ser, NP_004687.1:p.Leu195Ser, NP_001188476.1:p.Leu133Ser, NP_001188475.1:p.Leu147Ser, NP_001188477.1:p.Leu85Ser, XP_047289923.1:p.Leu133Ser

Select item 146163448517.

rs1461634485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:110375475 (GRCh38)
1:110918097 (GRCh37)
Canonical SPDI:: NC_000001.11:110375474:G:A
Gene:: SLC16A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110375475G>A, NC_000001.10:g.110918097G>A, XM_005271317.6:c.1319C>T, XM_005271317.5:c.1319C>T, XM_005271317.4:c.1319C>T, XM_005271317.3:c.1319C>T, XM_005271317.2:c.1319C>T, XM_005271317.1:c.1319C>T, XM_006711033.4:c.989C>T, XM_006711033.3:c.989C>T, XM_006711033.2:c.989C>T, XM_006711033.1:c.989C>T, NM_004696.3:c.1319C>T, NM_004696.2:c.1319C>T, NM_001201547.2:c.1133C>T, NM_001201547.1:c.1133C>T, NM_001201546.2:c.1175C>T, NM_001201546.1:c.1175C>T, NM_001201548.2:c.989C>T, NM_001201548.1:c.989C>T, NM_001201549.2:c.815C>T, NM_001201549.1:c.815C>T, NM_001319220.2:c.629C>T, NM_001319220.1:c.629C>T, XM_047433967.1:c.1133C>T, XM_047433980.1:c.815C>T, XM_047433990.1:c.629C>T, XM_047433986.1:c.671C>T, XP_005271374.1:p.Ser440Phe, XP_006711096.1:p.Ser330Phe, NP_004687.1:p.Ser440Phe, NP_001188476.1:p.Ser378Phe, NP_001188475.1:p.Ser392Phe, NP_001188477.1:p.Ser330Phe, NP_001188478.1:p.Ser272Phe, NP_001306149.1:p.Ser210Phe, XP_047289923.1:p.Ser378Phe, XP_047289936.1:p.Ser272Phe, XP_047289946.1:p.Ser210Phe, XP_047289942.1:p.Ser224Phe

Select item 146059469018.

rs1460594690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:110363773 (GRCh38)
1:110906395 (GRCh37)
Canonical SPDI:: NC_000001.11:110363772:A:T
Gene:: SLC16A4 (Varview)
Functional Consequence:: stop_lost,missense_variant,coding_sequence_variant,terminator_codon_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_000001.11:g.110363773A>T, NC_000001.10:g.110906395A>T, XM_005271317.6:c.1457T>A, XM_005271317.5:c.1457T>A, XM_005271317.4:c.1457T>A, XM_005271317.3:c.1457T>A, XM_005271317.2:c.1457T>A, XM_005271317.1:c.1457T>A, XM_006711033.4:c.1127T>A, XM_006711033.3:c.1127T>A, XM_006711033.2:c.1127T>A, XM_006711033.1:c.1127T>A, NM_004696.3:c.1457T>A, NM_004696.2:c.1457T>A, NM_001201547.2:c.1271T>A, NM_001201547.1:c.1271T>A, NM_001201546.2:c.1313T>A, NM_001201546.1:c.1313T>A, NM_001201548.2:c.1147T>A, NM_001201548.1:c.1147T>A, NM_001201549.2:c.953T>A, NM_001201549.1:c.953T>A, NM_001319220.2:c.767T>A, NM_001319220.1:c.767T>A, XM_047433967.1:c.1271T>A, XM_047433980.1:c.953T>A, XM_047433990.1:c.767T>A, XM_047433986.1:c.809T>A, XP_005271374.1:p.Leu486Gln, XP_006711096.1:p.Leu376Gln, NP_004687.1:p.Leu486Gln, NP_001188476.1:p.Leu424Gln, NP_001188475.1:p.Leu438Gln, NP_001188477.1:p.Ter383Arg, NP_001188478.1:p.Leu318Gln, NP_001306149.1:p.Leu256Gln, XP_047289923.1:p.Leu424Gln, XP_047289936.1:p.Leu318Gln, XP_047289946.1:p.Leu256Gln, XP_047289942.1:p.Leu270Gln

Select item 145894034919.

rs1458940349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:110375483 (GRCh38)
1:110918105 (GRCh37)
Canonical SPDI:: NC_000001.11:110375482:A:G
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.110375483A>G, NC_000001.10:g.110918105A>G, XM_005271317.6:c.1311T>C, XM_005271317.5:c.1311T>C, XM_005271317.4:c.1311T>C, XM_005271317.3:c.1311T>C, XM_005271317.2:c.1311T>C, XM_005271317.1:c.1311T>C, XM_006711033.4:c.981T>C, XM_006711033.3:c.981T>C, XM_006711033.2:c.981T>C, XM_006711033.1:c.981T>C, NM_004696.3:c.1311T>C, NM_004696.2:c.1311T>C, NM_001201547.2:c.1125T>C, NM_001201547.1:c.1125T>C, NM_001201546.2:c.1167T>C, NM_001201546.1:c.1167T>C, NM_001201548.2:c.981T>C, NM_001201548.1:c.981T>C, NM_001201549.2:c.807T>C, NM_001201549.1:c.807T>C, NM_001319220.2:c.621T>C, NM_001319220.1:c.621T>C, XM_047433967.1:c.1125T>C, XM_047433980.1:c.807T>C, XM_047433990.1:c.621T>C, XM_047433986.1:c.663T>C

Select item 145740021120.

rs1457400211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:110381725 (GRCh38)
1:110924347 (GRCh37)
Canonical SPDI:: NC_000001.11:110381724:A:G
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.110381725A>G, NC_000001.10:g.110924347A>G, XM_005271317.6:c.291T>C, XM_005271317.5:c.291T>C, XM_005271317.4:c.291T>C, XM_005271317.3:c.291T>C, XM_005271317.2:c.291T>C, XM_005271317.1:c.291T>C, NM_004696.3:c.291T>C, NM_004696.2:c.291T>C, NM_001201547.2:c.105T>C, NM_001201547.1:c.105T>C, NM_001201549.2:c.291T>C, NM_001201549.1:c.291T>C, NM_001319220.2:c.105T>C, NM_001319220.1:c.105T>C, XM_047433967.1:c.105T>C, XM_047433980.1:c.291T>C, XM_047433990.1:c.105T>C

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