SNP Links for Protein (Select 31543204) - SNP

Links from Protein

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Select item 14903908471.

rs1490390847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28405438 (GRCh38)
17:26732456 (GRCh37)
Canonical SPDI:: NC_000017.11:28405437:G:A,NC_000017.11:28405437:G:C
Gene:: SLC46A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28405438G>A, NC_000017.11:g.28405438G>C, NC_000017.10:g.26732456G>A, NC_000017.10:g.26732456G>C, NG_013306.1:g.5773C>T, NG_013306.1:g.5773C>G, NM_080669.6:c.259C>T, NM_080669.6:c.259C>G, NM_080669.5:c.259C>T, NM_080669.5:c.259C>G, NM_080669.4:c.259C>T, NM_080669.4:c.259C>G, NM_001242366.3:c.259C>T, NM_001242366.3:c.259C>G, NM_001242366.2:c.259C>T, NM_001242366.2:c.259C>G, NM_001242366.1:c.259C>T, NM_001242366.1:c.259C>G, NW_003871090.1:g.87299G>A, NW_003871090.1:g.87299G>C, XM_005277786.4:c.259C>T, XM_005277786.4:c.259C>G, XM_005277786.3:c.259C>T, XM_005277786.3:c.259C>G, XM_005277786.2:c.259C>T, XM_005277786.2:c.259C>G, XM_005277786.1:c.259C>T, XM_005277786.1:c.259C>G, XM_017024110.2:c.37C>T, XM_017024110.2:c.37C>G, XM_017024110.1:c.37C>T, XM_017024110.1:c.37C>G, XM_047435279.1:c.37C>T, XM_047435279.1:c.37C>G, XM_047435280.1:c.37C>T, XM_047435280.1:c.37C>G, NP_542400.2:p.Leu87Phe, NP_542400.2:p.Leu87Val, NP_001229295.1:p.Leu87Phe, NP_001229295.1:p.Leu87Val, XP_005277843.1:p.Leu87Phe, XP_005277843.1:p.Leu87Val, XP_016879599.1:p.Leu13Phe, XP_016879599.1:p.Leu13Val, XP_047291235.1:p.Leu13Phe, XP_047291235.1:p.Leu13Val, XP_047291236.1:p.Leu13Phe, XP_047291236.1:p.Leu13Val

Select item 14757158962.

rs1475715896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28406100 (GRCh38)
17:26733118 (GRCh37)
Canonical SPDI:: NC_000017.11:28406099:C:T
Gene:: SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28406100C>T, NC_000017.10:g.26733118C>T, NG_013306.1:g.5111G>A, NM_080669.6:c.15G>A, NM_080669.5:c.15G>A, NM_080669.4:c.15G>A, NM_001242366.3:c.15G>A, NM_001242366.2:c.15G>A, NM_001242366.1:c.15G>A, NW_003871090.1:g.87961C>T, XM_005277786.4:c.15G>A, XM_005277786.3:c.15G>A, XM_005277786.2:c.15G>A, XM_005277786.1:c.15G>A

Select item 14745075163.

rs1474507516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28406033 (GRCh38)
17:26733051 (GRCh37)
Canonical SPDI:: NC_000017.11:28406032:G:C
Gene:: SLC46A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28406033G>C, NC_000017.10:g.26733051G>C, NG_013306.1:g.5178C>G, NM_080669.6:c.82C>G, NM_080669.5:c.82C>G, NM_080669.4:c.82C>G, NM_001242366.3:c.82C>G, NM_001242366.2:c.82C>G, NM_001242366.1:c.82C>G, NW_003871090.1:g.87894G>C, XM_005277786.4:c.82C>G, XM_005277786.3:c.82C>G, XM_005277786.2:c.82C>G, XM_005277786.1:c.82C>G, NP_542400.2:p.Leu28Val, NP_001229295.1:p.Leu28Val, XP_005277843.1:p.Leu28Val

Select item 14709737264.

rs1470973726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28405424 (GRCh38)
17:26732442 (GRCh37)
Canonical SPDI:: NC_000017.11:28405423:C:T
Gene:: SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28405424C>T, NC_000017.10:g.26732442C>T, NG_013306.1:g.5787G>A, NM_080669.6:c.273G>A, NM_080669.5:c.273G>A, NM_080669.4:c.273G>A, NM_001242366.3:c.273G>A, NM_001242366.2:c.273G>A, NM_001242366.1:c.273G>A, NW_003871090.1:g.87285C>T, XM_005277786.4:c.273G>A, XM_005277786.3:c.273G>A, XM_005277786.2:c.273G>A, XM_005277786.1:c.273G>A, XM_017024110.2:c.51G>A, XM_017024110.1:c.51G>A, XM_047435279.1:c.51G>A, XM_047435280.1:c.51G>A

Select item 14707023535.

rs1470702353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28404836 (GRCh38)
17:26731854 (GRCh37)
Canonical SPDI:: NC_000017.11:28404835:G:A
Gene:: SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28404836G>A, NC_000017.10:g.26731854G>A, NG_013306.1:g.6375C>T, NM_080669.6:c.861C>T, NM_080669.5:c.861C>T, NM_080669.4:c.861C>T, NM_001242366.3:c.861C>T, NM_001242366.2:c.861C>T, NM_001242366.1:c.861C>T, NW_003871090.1:g.86697G>A, XM_005277786.4:c.861C>T, XM_005277786.3:c.861C>T, XM_005277786.2:c.861C>T, XM_005277786.1:c.861C>T, XM_017024110.2:c.639C>T, XM_017024110.1:c.639C>T, XM_047435279.1:c.639C>T, XM_047435280.1:c.639C>T

Select item 14695023696.

rs1469502369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28406020 (GRCh38)
17:26733038 (GRCh37)
Canonical SPDI:: NC_000017.11:28406019:G:A
Gene:: SLC46A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28406020G>A, NC_000017.10:g.26733038G>A, NG_013306.1:g.5191C>T, NM_080669.6:c.95C>T, NM_080669.5:c.95C>T, NM_080669.4:c.95C>T, NM_001242366.3:c.95C>T, NM_001242366.2:c.95C>T, NM_001242366.1:c.95C>T, NW_003871090.1:g.87881G>A, XM_005277786.4:c.95C>T, XM_005277786.3:c.95C>T, XM_005277786.2:c.95C>T, XM_005277786.1:c.95C>T, NP_542400.2:p.Ala32Val, NP_001229295.1:p.Ala32Val, XP_005277843.1:p.Ala32Val

Select item 14628242437.

rs1462824243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28400711 (GRCh38)
17:26727728 (GRCh37)
Canonical SPDI:: NC_000017.11:28400710:G:A
Gene:: SARM1 (Varview), SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.28400711G>A, NW_003871090.1:g.82572G>A, NG_013306.1:g.10501C>T, NM_080669.6:c.1221C>T, NM_080669.5:c.1221C>T, NM_080669.4:c.1221C>T, NM_001242366.3:c.1137C>T, NM_001242366.2:c.1137C>T, NM_001242366.1:c.1137C>T, NC_000017.10:g.26727728G>A, NM_015077.4:c.*4425G>A, NM_015077.3:c.*4425G>A, XM_017024110.2:c.999C>T, XM_017024110.1:c.999C>T, XM_047435279.1:c.915C>T

Select item 14605987938.

rs1460598793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28406058 (GRCh38)
17:26733076 (GRCh37)
Canonical SPDI:: NC_000017.11:28406057:C:A
Gene:: SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28406058C>A, NC_000017.10:g.26733076C>A, NG_013306.1:g.5153G>T, NM_080669.6:c.57G>T, NM_080669.5:c.57G>T, NM_080669.4:c.57G>T, NM_001242366.3:c.57G>T, NM_001242366.2:c.57G>T, NM_001242366.1:c.57G>T, NW_003871090.1:g.87919C>A, XM_005277786.4:c.57G>T, XM_005277786.3:c.57G>T, XM_005277786.2:c.57G>T, XM_005277786.1:c.57G>T

Select item 14521066099.

rs1452106609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28406090 (GRCh38)
17:26733108 (GRCh37)
Canonical SPDI:: NC_000017.11:28406089:C:T
Gene:: SLC46A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28406090C>T, NC_000017.10:g.26733108C>T, NG_013306.1:g.5121G>A, NM_080669.6:c.25G>A, NM_080669.5:c.25G>A, NM_080669.4:c.25G>A, NM_001242366.3:c.25G>A, NM_001242366.2:c.25G>A, NM_001242366.1:c.25G>A, NW_003871090.1:g.87951C>T, XM_005277786.4:c.25G>A, XM_005277786.3:c.25G>A, XM_005277786.2:c.25G>A, XM_005277786.1:c.25G>A, NP_542400.2:p.Glu9Lys, NP_001229295.1:p.Glu9Lys, XP_005277843.1:p.Glu9Lys

Select item 144701198310.

rs1447011983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28404651 (GRCh38)
17:26731669 (GRCh37)
Canonical SPDI:: NC_000017.11:28404650:A:G
Gene:: SLC46A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.28404651A>G, NC_000017.10:g.26731669A>G, NG_013306.1:g.6560T>C, NM_080669.6:c.1046T>C, NM_080669.5:c.1046T>C, NM_080669.4:c.1046T>C, NM_001242366.3:c.1046T>C, NM_001242366.2:c.1046T>C, NM_001242366.1:c.1046T>C, NW_003871090.1:g.86512A>G, XM_005277786.4:c.1046T>C, XM_005277786.3:c.1046T>C, XM_005277786.2:c.1046T>C, XM_005277786.1:c.1046T>C, XM_017024110.2:c.824T>C, XM_017024110.1:c.824T>C, XM_047435279.1:c.824T>C, XM_047435280.1:c.824T>C, NP_542400.2:p.Phe349Ser, NP_001229295.1:p.Phe349Ser, XP_005277843.1:p.Phe349Ser, XP_016879599.1:p.Phe275Ser, XP_047291235.1:p.Phe275Ser, XP_047291236.1:p.Phe275Ser

Select item 143203332111.

rs1432033321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28405054 (GRCh38)
17:26732072 (GRCh37)
Canonical SPDI:: NC_000017.11:28405053:C:T
Gene:: SLC46A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28405054C>T, NC_000017.10:g.26732072C>T, NG_013306.1:g.6157G>A, NM_080669.6:c.643G>A, NM_080669.5:c.643G>A, NM_080669.4:c.643G>A, NM_001242366.3:c.643G>A, NM_001242366.2:c.643G>A, NM_001242366.1:c.643G>A, NW_003871090.1:g.86915C>T, XM_005277786.4:c.643G>A, XM_005277786.3:c.643G>A, XM_005277786.2:c.643G>A, XM_005277786.1:c.643G>A, XM_017024110.2:c.421G>A, XM_017024110.1:c.421G>A, XM_047435279.1:c.421G>A, XM_047435280.1:c.421G>A, NP_542400.2:p.Ala215Thr, NP_001229295.1:p.Ala215Thr, XP_005277843.1:p.Ala215Thr, XP_016879599.1:p.Ala141Thr, XP_047291235.1:p.Ala141Thr, XP_047291236.1:p.Ala141Thr

Select item 142295374212.

rs1422953742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28405087 (GRCh38)
17:26732105 (GRCh37)
Canonical SPDI:: NC_000017.11:28405086:G:A
Gene:: SLC46A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.28405087G>A, NC_000017.10:g.26732105G>A, NG_013306.1:g.6124C>T, NM_080669.6:c.610C>T, NM_080669.5:c.610C>T, NM_080669.4:c.610C>T, NM_001242366.3:c.610C>T, NM_001242366.2:c.610C>T, NM_001242366.1:c.610C>T, NW_003871090.1:g.86948G>A, XM_005277786.4:c.610C>T, XM_005277786.3:c.610C>T, XM_005277786.2:c.610C>T, XM_005277786.1:c.610C>T, XM_017024110.2:c.388C>T, XM_017024110.1:c.388C>T, XM_047435279.1:c.388C>T, XM_047435280.1:c.388C>T, NP_542400.2:p.Arg204Trp, NP_001229295.1:p.Arg204Trp, XP_005277843.1:p.Arg204Trp, XP_016879599.1:p.Arg130Trp, XP_047291235.1:p.Arg130Trp, XP_047291236.1:p.Arg130Trp

Select item 141760873413.

rs1417608734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28405387 (GRCh38)
17:26732405 (GRCh37)
Canonical SPDI:: NC_000017.11:28405386:G:A
Gene:: SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.28405387G>A, NC_000017.10:g.26732405G>A, NG_013306.1:g.5824C>T, NM_080669.6:c.310C>T, NM_080669.5:c.310C>T, NM_080669.4:c.310C>T, NM_001242366.3:c.310C>T, NM_001242366.2:c.310C>T, NM_001242366.1:c.310C>T, NW_003871090.1:g.87248G>A, XM_005277786.4:c.310C>T, XM_005277786.3:c.310C>T, XM_005277786.2:c.310C>T, XM_005277786.1:c.310C>T, XM_017024110.2:c.88C>T, XM_017024110.1:c.88C>T, XM_047435279.1:c.88C>T, XM_047435280.1:c.88C>T

Select item 141352029414.

rs1413520294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28399667 (GRCh38)
17:26726683 (GRCh37)
Canonical SPDI:: NC_000017.11:28399666:G:A
Gene:: SARM1 (Varview), SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28399667G>A, NW_003871090.1:g.81528G>A, NG_013306.1:g.11545C>T, NM_080669.6:c.1369C>T, NM_080669.5:c.1369C>T, NM_080669.4:c.1369C>T, NM_001242366.3:c.1285C>T, NM_001242366.2:c.1285C>T, NM_001242366.1:c.1285C>T, NC_000017.10:g.26726683G>A, NM_015077.4:c.*3381G>A, NM_015077.3:c.*3381G>A, XM_005277786.4:c.1128C>T, XM_005277786.3:c.1128C>T, XM_005277786.2:c.1128C>T, XM_005277786.1:c.1128C>T, XM_017024110.2:c.1147C>T, XM_017024110.1:c.1147C>T, XM_047435279.1:c.1063C>T, XM_047435280.1:c.906C>T, NP_542400.2:p.Gln457Ter, NP_001229295.1:p.Gln429Ter, XP_016879599.1:p.Gln383Ter, XP_047291235.1:p.Gln355Ter

Select item 141176625015.

rs1411766250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28405219 (GRCh38)
17:26732237 (GRCh37)
Canonical SPDI:: NC_000017.11:28405218:G:A
Gene:: SLC46A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28405219G>A, NC_000017.10:g.26732237G>A, NG_013306.1:g.5992C>T, NM_080669.6:c.478C>T, NM_080669.5:c.478C>T, NM_080669.4:c.478C>T, NM_001242366.3:c.478C>T, NM_001242366.2:c.478C>T, NM_001242366.1:c.478C>T, NW_003871090.1:g.87080G>A, XM_005277786.4:c.478C>T, XM_005277786.3:c.478C>T, XM_005277786.2:c.478C>T, XM_005277786.1:c.478C>T, XM_017024110.2:c.256C>T, XM_017024110.1:c.256C>T, XM_047435279.1:c.256C>T, XM_047435280.1:c.256C>T, NP_542400.2:p.Leu160Phe, NP_001229295.1:p.Leu160Phe, XP_005277843.1:p.Leu160Phe, XP_016879599.1:p.Leu86Phe, XP_047291235.1:p.Leu86Phe, XP_047291236.1:p.Leu86Phe

Select item 140825837616.

rs1408258376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28406094 (GRCh38)
17:26733112 (GRCh37)
Canonical SPDI:: NC_000017.11:28406093:G:A,NC_000017.11:28406093:G:C
Gene:: SLC46A1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.28406094G>A, NC_000017.11:g.28406094G>C, NC_000017.10:g.26733112G>A, NC_000017.10:g.26733112G>C, NG_013306.1:g.5117C>T, NG_013306.1:g.5117C>G, NM_080669.6:c.21C>T, NM_080669.6:c.21C>G, NM_080669.5:c.21C>T, NM_080669.5:c.21C>G, NM_080669.4:c.21C>T, NM_080669.4:c.21C>G, NM_001242366.3:c.21C>T, NM_001242366.3:c.21C>G, NM_001242366.2:c.21C>T, NM_001242366.2:c.21C>G, NM_001242366.1:c.21C>T, NM_001242366.1:c.21C>G, NW_003871090.1:g.87955G>A, NW_003871090.1:g.87955G>C, XM_005277786.4:c.21C>T, XM_005277786.4:c.21C>G, XM_005277786.3:c.21C>T, XM_005277786.3:c.21C>G, XM_005277786.2:c.21C>T, XM_005277786.2:c.21C>G, XM_005277786.1:c.21C>T, XM_005277786.1:c.21C>G

Select item 140736262417.

rs1407362624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28405066 (GRCh38)
17:26732084 (GRCh37)
Canonical SPDI:: NC_000017.11:28405065:G:C
Gene:: SLC46A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28405066G>C, NC_000017.10:g.26732084G>C, NG_013306.1:g.6145C>G, NM_080669.6:c.631C>G, NM_080669.5:c.631C>G, NM_080669.4:c.631C>G, NM_001242366.3:c.631C>G, NM_001242366.2:c.631C>G, NM_001242366.1:c.631C>G, NW_003871090.1:g.86927G>C, XM_005277786.4:c.631C>G, XM_005277786.3:c.631C>G, XM_005277786.2:c.631C>G, XM_005277786.1:c.631C>G, XM_017024110.2:c.409C>G, XM_017024110.1:c.409C>G, XM_047435279.1:c.409C>G, XM_047435280.1:c.409C>G, NP_542400.2:p.Pro211Ala, NP_001229295.1:p.Pro211Ala, XP_005277843.1:p.Pro211Ala, XP_016879599.1:p.Pro137Ala, XP_047291235.1:p.Pro137Ala, XP_047291236.1:p.Pro137Ala

Select item 140710952618.

rs1407109526 has merged into rs397515574 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:28406092 (GRCh38)
17:26733110 (GRCh37)
Canonical SPDI:: NC_000017.11:28406091:GGGGGG:GGGGG,NC_000017.11:28406091:GGGGGG:GGGGGGG
Gene:: SLC46A1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28406097del, NC_000017.11:g.28406097dup, NC_000017.10:g.26733115del, NC_000017.10:g.26733115dup, NG_013306.1:g.5119del, NG_013306.1:g.5119dup, NM_080669.6:c.23del, NM_080669.6:c.23dup, NM_080669.5:c.23del, NM_080669.5:c.23dup, NM_080669.4:c.23del, NM_080669.4:c.23dup, NM_001242366.3:c.23del, NM_001242366.3:c.23dup, NM_001242366.2:c.23del, NM_001242366.2:c.23dup, NM_001242366.1:c.23del, NM_001242366.1:c.23dup, NW_003871090.1:g.87958del, NW_003871090.1:g.87958dup, XM_005277786.4:c.23del, XM_005277786.4:c.23dup, XM_005277786.3:c.23del, XM_005277786.3:c.23dup, XM_005277786.2:c.23del, XM_005277786.2:c.23dup, XM_005277786.1:c.23del, XM_005277786.1:c.23dup, NP_542400.2:p.Pro8fs, NP_542400.2:p.Glu9fs, NP_001229295.1:p.Pro8fs, NP_001229295.1:p.Glu9fs, XP_005277843.1:p.Pro8fs, XP_005277843.1:p.Glu9fs

Select item 140182748219.

rs1401827482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28404955 (GRCh38)
17:26731973 (GRCh37)
Canonical SPDI:: NC_000017.11:28404954:G:A
Gene:: SLC46A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28404955G>A, NC_000017.10:g.26731973G>A, NG_013306.1:g.6256C>T, NM_080669.6:c.742C>T, NM_080669.5:c.742C>T, NM_080669.4:c.742C>T, NM_001242366.3:c.742C>T, NM_001242366.2:c.742C>T, NM_001242366.1:c.742C>T, NW_003871090.1:g.86816G>A, XM_005277786.4:c.742C>T, XM_005277786.3:c.742C>T, XM_005277786.2:c.742C>T, XM_005277786.1:c.742C>T, XM_017024110.2:c.520C>T, XM_017024110.1:c.520C>T, XM_047435279.1:c.520C>T, XM_047435280.1:c.520C>T, NP_542400.2:p.His248Tyr, NP_001229295.1:p.His248Tyr, XP_005277843.1:p.His248Tyr, XP_016879599.1:p.His174Tyr, XP_047291235.1:p.His174Tyr, XP_047291236.1:p.His174Tyr

Select item 139579587720.

rs1395795877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28405060 (GRCh38)
17:26732078 (GRCh37)
Canonical SPDI:: NC_000017.11:28405059:A:C
Gene:: SLC46A1 (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.28405060A>C, NC_000017.10:g.26732078A>C, NG_013306.1:g.6151T>G, NM_080669.6:c.637T>G, NM_080669.5:c.637T>G, NM_080669.4:c.637T>G, NM_001242366.3:c.637T>G, NM_001242366.2:c.637T>G, NM_001242366.1:c.637T>G, NW_003871090.1:g.86921A>C, XM_005277786.4:c.637T>G, XM_005277786.3:c.637T>G, XM_005277786.2:c.637T>G, XM_005277786.1:c.637T>G, XM_017024110.2:c.415T>G, XM_017024110.1:c.415T>G, XM_047435279.1:c.415T>G, XM_047435280.1:c.415T>G, NP_542400.2:p.Trp213Gly, NP_001229295.1:p.Trp213Gly, XP_005277843.1:p.Trp213Gly, XP_016879599.1:p.Trp139Gly, XP_047291235.1:p.Trp139Gly, XP_047291236.1:p.Trp139Gly

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