SNP Links for Protein (Select 984655744) - 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 14816217433.

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 14807003044.

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 14792961795.

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 14791513736.

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 14703052817.

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 14616344858.

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 14605946909.

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 145894034910.

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 145740021111.

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

Select item 145173031812.

rs1451730318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:110381106 (GRCh38)
1:110923728 (GRCh37)
Canonical SPDI:: NC_000001.11:110381105:C:T
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.110381106C>T, NC_000001.10:g.110923728C>T, XM_005271317.6:c.402G>A, XM_005271317.5:c.402G>A, XM_005271317.4:c.402G>A, XM_005271317.3:c.402G>A, XM_005271317.2:c.402G>A, XM_005271317.1:c.402G>A, XM_006711033.4:c.72G>A, XM_006711033.3:c.72G>A, XM_006711033.2:c.72G>A, XM_006711033.1:c.72G>A, NM_004696.3:c.402G>A, NM_004696.2:c.402G>A, NM_001201547.2:c.216G>A, NM_001201547.1:c.216G>A, NM_001201546.2:c.258G>A, NM_001201546.1:c.258G>A, NM_001201548.2:c.72G>A, NM_001201548.1:c.72G>A, NM_001201549.2:c.402G>A, NM_001201549.1:c.402G>A, NM_001319220.2:c.216G>A, NM_001319220.1:c.216G>A, XM_047433967.1:c.216G>A, XM_047433980.1:c.402G>A, XM_047433990.1:c.216G>A, XM_047433986.1:c.258G>A

Select item 144985854713.

rs1449858547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:110375461 (GRCh38)
1:110918083 (GRCh37)
Canonical SPDI:: NC_000001.11:110375460:C:A
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.110375461C>A, NC_000001.10:g.110918083C>A, XM_005271317.6:c.1333G>T, XM_005271317.5:c.1333G>T, XM_005271317.4:c.1333G>T, XM_005271317.3:c.1333G>T, XM_005271317.2:c.1333G>T, XM_005271317.1:c.1333G>T, XM_006711033.4:c.1003G>T, XM_006711033.3:c.1003G>T, XM_006711033.2:c.1003G>T, XM_006711033.1:c.1003G>T, NM_004696.3:c.1333G>T, NM_004696.2:c.1333G>T, NM_001201547.2:c.1147G>T, NM_001201547.1:c.1147G>T, NM_001201546.2:c.1189G>T, NM_001201546.1:c.1189G>T, NM_001201548.2:c.1003G>T, NM_001201548.1:c.1003G>T, NM_001201549.2:c.829G>T, NM_001201549.1:c.829G>T, NM_001319220.2:c.643G>T, NM_001319220.1:c.643G>T, XM_047433967.1:c.1147G>T, XM_047433980.1:c.829G>T, XM_047433990.1:c.643G>T, XM_047433986.1:c.685G>T, XP_005271374.1:p.Ala445Ser, XP_006711096.1:p.Ala335Ser, NP_004687.1:p.Ala445Ser, NP_001188476.1:p.Ala383Ser, NP_001188475.1:p.Ala397Ser, NP_001188477.1:p.Ala335Ser, NP_001188478.1:p.Ala277Ser, NP_001306149.1:p.Ala215Ser, XP_047289923.1:p.Ala383Ser, XP_047289936.1:p.Ala277Ser, XP_047289946.1:p.Ala215Ser, XP_047289942.1:p.Ala229Ser

Select item 144219650114.

rs1442196501 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:110381745 (GRCh38)
1:110924367 (GRCh37)
Canonical SPDI:: NC_000001.11:110381744:TG:
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110381745_110381746del, NC_000001.10:g.110924367_110924368del, XM_005271317.6:c.270_271del, XM_005271317.5:c.270_271del, XM_005271317.4:c.270_271del, XM_005271317.3:c.270_271del, XM_005271317.2:c.270_271del, XM_005271317.1:c.270_271del, NM_004696.3:c.270_271del, NM_004696.2:c.270_271del, NM_001201547.2:c.84_85del, NM_001201547.1:c.84_85del, NM_001201549.2:c.270_271del, NM_001201549.1:c.270_271del, NM_001319220.2:c.84_85del, NM_001319220.1:c.84_85del, XM_047433967.1:c.84_85del, XM_047433980.1:c.270_271del, XM_047433990.1:c.84_85del, XP_005271374.1:p.Ile91fs, NP_004687.1:p.Ile91fs, NP_001188476.1:p.Ile29fs, NP_001188478.1:p.Ile91fs, NP_001306149.1:p.Ile29fs, XP_047289923.1:p.Ile29fs, XP_047289936.1:p.Ile91fs, XP_047289946.1:p.Ile29fs

Select item 142920743015.

rs1429207430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:110375471 (GRCh38)
1:110918093 (GRCh37)
Canonical SPDI:: NC_000001.11:110375470:T:C
Gene:: SLC16A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110375471T>C, NC_000001.10:g.110918093T>C, XM_005271317.6:c.1323A>G, XM_005271317.5:c.1323A>G, XM_005271317.4:c.1323A>G, XM_005271317.3:c.1323A>G, XM_005271317.2:c.1323A>G, XM_005271317.1:c.1323A>G, XM_006711033.4:c.993A>G, XM_006711033.3:c.993A>G, XM_006711033.2:c.993A>G, XM_006711033.1:c.993A>G, NM_004696.3:c.1323A>G, NM_004696.2:c.1323A>G, NM_001201547.2:c.1137A>G, NM_001201547.1:c.1137A>G, NM_001201546.2:c.1179A>G, NM_001201546.1:c.1179A>G, NM_001201548.2:c.993A>G, NM_001201548.1:c.993A>G, NM_001201549.2:c.819A>G, NM_001201549.1:c.819A>G, NM_001319220.2:c.633A>G, NM_001319220.1:c.633A>G, XM_047433967.1:c.1137A>G, XM_047433980.1:c.819A>G, XM_047433990.1:c.633A>G, XM_047433986.1:c.675A>G

Select item 142443057516.

rs1424430575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:110363816 (GRCh38)
1:110906438 (GRCh37)
Canonical SPDI:: NC_000001.11:110363815:A:C
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110363816A>C, NC_000001.10:g.110906438A>C, XM_005271317.6:c.1414T>G, XM_005271317.5:c.1414T>G, XM_005271317.4:c.1414T>G, XM_005271317.3:c.1414T>G, XM_005271317.2:c.1414T>G, XM_005271317.1:c.1414T>G, XM_006711033.4:c.1084T>G, XM_006711033.3:c.1084T>G, XM_006711033.2:c.1084T>G, XM_006711033.1:c.1084T>G, NM_004696.3:c.1414T>G, NM_004696.2:c.1414T>G, NM_001201547.2:c.1228T>G, NM_001201547.1:c.1228T>G, NM_001201546.2:c.1270T>G, NM_001201546.1:c.1270T>G, NM_001201548.2:c.1104T>G, NM_001201548.1:c.1104T>G, NM_001201549.2:c.910T>G, NM_001201549.1:c.910T>G, NM_001319220.2:c.724T>G, NM_001319220.1:c.724T>G, XM_047433967.1:c.1228T>G, XM_047433980.1:c.910T>G, XM_047433990.1:c.724T>G, XM_047433986.1:c.766T>G, XP_005271374.1:p.Ser472Ala, XP_006711096.1:p.Ser362Ala, NP_004687.1:p.Ser472Ala, NP_001188476.1:p.Ser410Ala, NP_001188475.1:p.Ser424Ala, NP_001188477.1:p.Phe368Leu, NP_001188478.1:p.Ser304Ala, NP_001306149.1:p.Ser242Ala, XP_047289923.1:p.Ser410Ala, XP_047289936.1:p.Ser304Ala, XP_047289946.1:p.Ser242Ala, XP_047289942.1:p.Ser256Ala

Select item 142291100317.

rs1422911003 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:110381019 (GRCh38)
1:110923641 (GRCh37)
Canonical SPDI:: NC_000001.11:110381018:GGG:GG
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.110381021del, NC_000001.10:g.110923643del, XM_005271317.6:c.489del, XM_005271317.5:c.489del, XM_005271317.4:c.489del, XM_005271317.3:c.489del, XM_005271317.2:c.489del, XM_005271317.1:c.489del, XM_006711033.4:c.159del, XM_006711033.3:c.159del, XM_006711033.2:c.159del, XM_006711033.1:c.159del, NM_004696.3:c.489del, NM_004696.2:c.489del, NM_001201547.2:c.303del, NM_001201547.1:c.303del, NM_001201546.2:c.345del, NM_001201546.1:c.345del, NM_001201548.2:c.159del, NM_001201548.1:c.159del, NM_001201549.2:c.489del, NM_001201549.1:c.489del, NM_001319220.2:c.303del, NM_001319220.1:c.303del, XM_047433967.1:c.303del, XM_047433980.1:c.489del, XM_047433990.1:c.303del, XM_047433986.1:c.345del, XP_005271374.1:p.Phe164fs, XP_006711096.1:p.Phe54fs, NP_004687.1:p.Phe164fs, NP_001188476.1:p.Phe102fs, NP_001188475.1:p.Phe116fs, NP_001188477.1:p.Phe54fs, NP_001188478.1:p.Phe164fs, NP_001306149.1:p.Phe102fs, XP_047289923.1:p.Phe102fs, XP_047289936.1:p.Phe164fs, XP_047289946.1:p.Phe102fs, XP_047289942.1:p.Phe116fs

Select item 142111290218.

rs1421112902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:110381103 (GRCh38)
1:110923726 (GRCh37)
Canonical SPDI:: NC_000001.11:110381103:A:AA
Gene:: SLC16A4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110381104dup, NC_000001.10:g.110923726dup, XM_005271317.6:c.404dup, XM_005271317.5:c.404dup, XM_005271317.4:c.404dup, XM_005271317.3:c.404dup, XM_005271317.2:c.404dup, XM_005271317.1:c.404dup, XM_006711033.4:c.74dup, XM_006711033.3:c.74dup, XM_006711033.2:c.74dup, XM_006711033.1:c.74dup, NM_004696.3:c.404dup, NM_004696.2:c.404dup, NM_001201547.2:c.218dup, NM_001201547.1:c.218dup, NM_001201546.2:c.260dup, NM_001201546.1:c.260dup, NM_001201548.2:c.74dup, NM_001201548.1:c.74dup, NM_001201549.2:c.404dup, NM_001201549.1:c.404dup, NM_001319220.2:c.218dup, NM_001319220.1:c.218dup, XM_047433967.1:c.218dup, XM_047433980.1:c.404dup, XM_047433990.1:c.218dup, XM_047433986.1:c.260dup, XP_005271374.1:p.Thr136fs, XP_006711096.1:p.Thr26fs, NP_004687.1:p.Thr136fs, NP_001188476.1:p.Thr74fs, NP_001188475.1:p.Thr88fs, NP_001188477.1:p.Thr26fs, NP_001188478.1:p.Thr136fs, NP_001306149.1:p.Thr74fs, XP_047289923.1:p.Thr74fs, XP_047289936.1:p.Thr136fs, XP_047289946.1:p.Thr74fs, XP_047289942.1:p.Thr88fs

Select item 141435902819.

rs1414359028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:110381663 (GRCh38)
1:110924285 (GRCh37)
Canonical SPDI:: NC_000001.11:110381662:C:T
Gene:: SLC16A4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.110381663C>T, NC_000001.10:g.110924285C>T, XM_005271317.6:c.353G>A, XM_005271317.5:c.353G>A, XM_005271317.4:c.353G>A, XM_005271317.3:c.353G>A, XM_005271317.2:c.353G>A, XM_005271317.1:c.353G>A, NM_004696.3:c.353G>A, NM_004696.2:c.353G>A, NM_001201547.2:c.167G>A, NM_001201547.1:c.167G>A, NM_001201549.2:c.353G>A, NM_001201549.1:c.353G>A, NM_001319220.2:c.167G>A, NM_001319220.1:c.167G>A, XM_047433967.1:c.167G>A, XM_047433980.1:c.353G>A, XM_047433990.1:c.167G>A, XP_005271374.1:p.Gly118Glu, NP_004687.1:p.Gly118Glu, NP_001188476.1:p.Gly56Glu, NP_001188478.1:p.Gly118Glu, NP_001306149.1:p.Gly56Glu, XP_047289923.1:p.Gly56Glu, XP_047289936.1:p.Gly118Glu, XP_047289946.1:p.Gly56Glu

Select item 141219044620.

rs1412190446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:110363861 (GRCh38)
1:110906483 (GRCh37)
Canonical SPDI:: NC_000001.11:110363860:C: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 (TOPMED)
HGVS:: NC_000001.11:g.110363861C>A, NC_000001.10:g.110906483C>A, XM_005271317.6:c.1369G>T, XM_005271317.5:c.1369G>T, XM_005271317.4:c.1369G>T, XM_005271317.3:c.1369G>T, XM_005271317.2:c.1369G>T, XM_005271317.1:c.1369G>T, XM_006711033.4:c.1039G>T, XM_006711033.3:c.1039G>T, XM_006711033.2:c.1039G>T, XM_006711033.1:c.1039G>T, NM_004696.3:c.1369G>T, NM_004696.2:c.1369G>T, NM_001201547.2:c.1183G>T, NM_001201547.1:c.1183G>T, NM_001201546.2:c.1225G>T, NM_001201546.1:c.1225G>T, NM_001201548.2:c.1059G>T, NM_001201548.1:c.1059G>T, NM_001201549.2:c.865G>T, NM_001201549.1:c.865G>T, NM_001319220.2:c.679G>T, NM_001319220.1:c.679G>T, XM_047433967.1:c.1183G>T, XM_047433980.1:c.865G>T, XM_047433990.1:c.679G>T, XM_047433986.1:c.721G>T, XP_005271374.1:p.Gly457Cys, XP_006711096.1:p.Gly347Cys, NP_004687.1:p.Gly457Cys, NP_001188476.1:p.Gly395Cys, NP_001188475.1:p.Gly409Cys, NP_001188477.1:p.Met353Ile, NP_001188478.1:p.Gly289Cys, NP_001306149.1:p.Gly227Cys, XP_047289923.1:p.Gly395Cys, XP_047289936.1:p.Gly289Cys, XP_047289946.1:p.Gly227Cys, XP_047289942.1:p.Gly241Cys

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