SNP Links for Protein (Select 33286430) - SNP

Links from Protein

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Select item 14890481971.

rs1489048197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23139511 (GRCh38)
14:23608720 (GRCh37)
Canonical SPDI:: NC_000014.9:23139510:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23139511C>T, NC_000014.8:g.23608720C>T, NM_012244.4:c.825G>A, NM_012244.3:c.825G>A, NM_182728.3:c.216G>A, NM_182728.2:c.216G>A, NM_001267037.2:c.153G>A, NM_001267037.1:c.153G>A, NM_001267036.1:c.510G>A

Select item 14846484512.

rs1484648451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23128188 (GRCh38)
14:23597397 (GRCh37)
Canonical SPDI:: NC_000014.9:23128187:C:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23128188C>G, NC_000014.8:g.23597397C>G, NM_012244.4:c.1272G>C, NM_012244.3:c.1272G>C, NM_182728.3:c.663G>C, NM_182728.2:c.663G>C, NR_049767.2:n.859G>C, NR_049767.1:n.997G>C, NM_001267037.2:c.600G>C, NM_001267037.1:c.600G>C, NM_001267036.1:c.957G>C

Select item 14841093923.

rs1484109392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:23129681 (GRCh38)
14:23598890 (GRCh37)
Canonical SPDI:: NC_000014.9:23129680:C:A,NC_000014.9:23129680:C:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23129681C>A, NC_000014.9:g.23129681C>G, NC_000014.8:g.23598890C>A, NC_000014.8:g.23598890C>G, NM_012244.4:c.1232G>T, NM_012244.4:c.1232G>C, NM_012244.3:c.1232G>T, NM_012244.3:c.1232G>C, NM_182728.3:c.623G>T, NM_182728.3:c.623G>C, NM_182728.2:c.623G>T, NM_182728.2:c.623G>C, NR_049767.2:n.651G>T, NR_049767.2:n.651G>C, NR_049767.1:n.789G>T, NR_049767.1:n.789G>C, NM_001267037.2:c.560G>T, NM_001267037.2:c.560G>C, NM_001267037.1:c.560G>T, NM_001267037.1:c.560G>C, NM_001267036.1:c.917G>T, NM_001267036.1:c.917G>C, NP_036376.2:p.Trp411Leu, NP_036376.2:p.Trp411Ser, NP_877392.1:p.Trp208Leu, NP_877392.1:p.Trp208Ser, NP_001253966.1:p.Trp187Leu, NP_001253966.1:p.Trp187Ser, NP_001253965.1:p.Trp306Leu, NP_001253965.1:p.Trp306Ser

Select item 14818251654.

rs1481825165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23128090 (GRCh38)
14:23597299 (GRCh37)
Canonical SPDI:: NC_000014.9:23128089:A:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23128090A>G, NC_000014.8:g.23597299A>G, NM_012244.4:c.1370T>C, NM_012244.3:c.1370T>C, NM_182728.3:c.761T>C, NM_182728.2:c.761T>C, NR_049767.2:n.957T>C, NR_049767.1:n.1095T>C, NM_001267037.2:c.698T>C, NM_001267037.1:c.698T>C, NM_001267036.1:c.1055T>C, NP_036376.2:p.Leu457Pro, NP_877392.1:p.Leu254Pro, NP_001253966.1:p.Leu233Pro, NP_001253965.1:p.Leu352Pro

Select item 14789196015.

rs1478919601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23128030 (GRCh38)
14:23597239 (GRCh37)
Canonical SPDI:: NC_000014.9:23128029:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23128030C>T, NC_000014.8:g.23597239C>T, NM_012244.4:c.1430G>A, NM_012244.3:c.1430G>A, NM_182728.3:c.821G>A, NM_182728.2:c.821G>A, NR_049767.2:n.1017G>A, NR_049767.1:n.1155G>A, NM_001267037.2:c.758G>A, NM_001267037.1:c.758G>A, NM_001267036.1:c.1115G>A, NP_036376.2:p.Ser477Asn, NP_877392.1:p.Ser274Asn, NP_001253966.1:p.Ser253Asn, NP_001253965.1:p.Ser372Asn

Select item 14745326306.

rs1474532630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:23138009 (GRCh38)
14:23607218 (GRCh37)
Canonical SPDI:: NC_000014.9:23138008:G:A,NC_000014.9:23138008:G:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23138009G>A, NC_000014.9:g.23138009G>T, NC_000014.8:g.23607218G>A, NC_000014.8:g.23607218G>T, NM_012244.4:c.928C>T, NM_012244.4:c.928C>A, NM_012244.3:c.928C>T, NM_012244.3:c.928C>A, NM_182728.3:c.319C>T, NM_182728.3:c.319C>A, NM_182728.2:c.319C>T, NM_182728.2:c.319C>A, NM_001267037.2:c.256C>T, NM_001267037.2:c.256C>A, NM_001267037.1:c.256C>T, NM_001267037.1:c.256C>A, NM_001267036.1:c.613C>T, NM_001267036.1:c.613C>A, NP_036376.2:p.Leu310Phe, NP_036376.2:p.Leu310Ile, NP_877392.1:p.Leu107Phe, NP_877392.1:p.Leu107Ile, NP_001253966.1:p.Leu86Phe, NP_001253966.1:p.Leu86Ile, NP_001253965.1:p.Leu205Phe, NP_001253965.1:p.Leu205Ile

Select item 14700811637.

rs1470081163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:23140556 (GRCh38)
14:23609765 (GRCh37)
Canonical SPDI:: NC_000014.9:23140555:C:A,NC_000014.9:23140555:C:G,NC_000014.9:23140555:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23140556C>A, NC_000014.9:g.23140556C>G, NC_000014.9:g.23140556C>T, NC_000014.8:g.23609765C>A, NC_000014.8:g.23609765C>G, NC_000014.8:g.23609765C>T, NM_012244.4:c.703G>T, NM_012244.4:c.703G>C, NM_012244.4:c.703G>A, NM_012244.3:c.703G>T, NM_012244.3:c.703G>C, NM_012244.3:c.703G>A, NM_182728.3:c.94G>T, NM_182728.3:c.94G>C, NM_182728.3:c.94G>A, NM_182728.2:c.94G>T, NM_182728.2:c.94G>C, NM_182728.2:c.94G>A, NR_049767.2:n.350G>T, NR_049767.2:n.350G>C, NR_049767.2:n.350G>A, NR_049767.1:n.488G>T, NR_049767.1:n.488G>C, NR_049767.1:n.488G>A, NM_001267036.1:c.388G>T, NM_001267036.1:c.388G>C, NM_001267036.1:c.388G>A, NP_036376.2:p.Ala235Ser, NP_036376.2:p.Ala235Pro, NP_036376.2:p.Ala235Thr, NP_877392.1:p.Ala32Ser, NP_877392.1:p.Ala32Pro, NP_877392.1:p.Ala32Thr, NP_001253965.1:p.Ala130Ser, NP_001253965.1:p.Ala130Pro, NP_001253965.1:p.Ala130Thr

Select item 14684015958.

rs1468401595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:23140620 (GRCh38)
14:23609829 (GRCh37)
Canonical SPDI:: NC_000014.9:23140619:C:G,NC_000014.9:23140619:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.23140620C>G, NC_000014.9:g.23140620C>T, NC_000014.8:g.23609829C>G, NC_000014.8:g.23609829C>T, NM_012244.4:c.639G>C, NM_012244.4:c.639G>A, NM_012244.3:c.639G>C, NM_012244.3:c.639G>A, NM_182728.3:c.30G>C, NM_182728.3:c.30G>A, NM_182728.2:c.30G>C, NM_182728.2:c.30G>A, NR_049767.2:n.286G>C, NR_049767.2:n.286G>A, NR_049767.1:n.424G>C, NR_049767.1:n.424G>A, NM_001267036.1:c.324G>C, NM_001267036.1:c.324G>A, NP_036376.2:p.Glu213Asp, NP_877392.1:p.Glu10Asp, NP_001253965.1:p.Glu108Asp

Select item 14613363799.

rs1461336379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:23131526 (GRCh38)
14:23600735 (GRCh37)
Canonical SPDI:: NC_000014.9:23131525:G:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_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_000014.9:g.23131526G>T, NC_000014.8:g.23600735G>T, NM_012244.4:c.1048C>A, NM_012244.3:c.1048C>A, NM_182728.3:c.439C>A, NM_182728.2:c.439C>A, NR_049767.2:n.467C>A, NR_049767.1:n.605C>A, NM_001267037.2:c.376C>A, NM_001267037.1:c.376C>A, NM_001267036.1:c.733C>A, NP_036376.2:p.Leu350Ile, NP_877392.1:p.Leu147Ile, NP_001253966.1:p.Leu126Ile, NP_001253965.1:p.Leu245Ile

Select item 146071396810.

rs1460713968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23140481 (GRCh38)
14:23609690 (GRCh37)
Canonical SPDI:: NC_000014.9:23140480:C:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23140481C>G, NC_000014.8:g.23609690C>G, NM_012244.4:c.778G>C, NM_012244.3:c.778G>C, NM_182728.3:c.169G>C, NM_182728.2:c.169G>C, NR_049767.2:n.425G>C, NR_049767.1:n.563G>C, NM_001267036.1:c.463G>C, NP_036376.2:p.Asp260His, NP_877392.1:p.Asp57His, NP_001253965.1:p.Asp155His

Select item 145914534411.

rs1459145344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23138019 (GRCh38)
14:23607228 (GRCh37)
Canonical SPDI:: NC_000014.9:23138018:A:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23138019A>G, NC_000014.8:g.23607228A>G, NM_012244.4:c.918T>C, NM_012244.3:c.918T>C, NM_182728.3:c.309T>C, NM_182728.2:c.309T>C, NM_001267037.2:c.246T>C, NM_001267037.1:c.246T>C, NM_001267036.1:c.603T>C

Select item 145796562112.

rs1457965621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:23127280 (GRCh38)
14:23596489 (GRCh37)
Canonical SPDI:: NC_000014.9:23127279:G:C
Gene:: SLC7A8 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23127280G>C, NC_000014.8:g.23596489G>C, NM_012244.4:c.1505C>G, NM_012244.3:c.1505C>G, NM_182728.3:c.896C>G, NM_182728.2:c.896C>G, NR_049767.2:n.1092C>G, NR_049767.1:n.1230C>G, NM_001267037.2:c.833C>G, NM_001267037.1:c.833C>G, NM_001267036.1:c.1190C>G, NP_036376.2:p.Ser502Ter, NP_877392.1:p.Ser299Ter, NP_001253966.1:p.Ser278Ter, NP_001253965.1:p.Ser397Ter

Select item 145728395513.

rs1457283955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:23140573 (GRCh38)
14:23609782 (GRCh37)
Canonical SPDI:: NC_000014.9:23140572:G:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23140573G>T, NC_000014.8:g.23609782G>T, NM_012244.4:c.686C>A, NM_012244.3:c.686C>A, NM_182728.3:c.77C>A, NM_182728.2:c.77C>A, NR_049767.2:n.333C>A, NR_049767.1:n.471C>A, NM_001267036.1:c.371C>A, NP_036376.2:p.Pro229His, NP_877392.1:p.Pro26His, NP_001253965.1:p.Pro124His

Select item 145105782814.

rs1451057828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23127246 (GRCh38)
14:23596455 (GRCh37)
Canonical SPDI:: NC_000014.9:23127245:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.23127246C>T, NC_000014.8:g.23596455C>T, NM_012244.4:c.1539G>A, NM_012244.3:c.1539G>A, NM_182728.3:c.930G>A, NM_182728.2:c.930G>A, NR_049767.2:n.1126G>A, NR_049767.1:n.1264G>A, NM_001267037.2:c.867G>A, NM_001267037.1:c.867G>A, NM_001267036.1:c.1224G>A

Select item 145039913915.

rs1450399139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23131466 (GRCh38)
14:23600675 (GRCh37)
Canonical SPDI:: NC_000014.9:23131465:A:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.23131466A>G, NC_000014.8:g.23600675A>G, NM_012244.4:c.1108T>C, NM_012244.3:c.1108T>C, NM_182728.3:c.499T>C, NM_182728.2:c.499T>C, NR_049767.2:n.527T>C, NR_049767.1:n.665T>C, NM_001267037.2:c.436T>C, NM_001267037.1:c.436T>C, NM_001267036.1:c.793T>C, NP_036376.2:p.Phe370Leu, NP_877392.1:p.Phe167Leu, NP_001253966.1:p.Phe146Leu, NP_001253965.1:p.Phe265Leu

Select item 145034502716.

rs1450345027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:23137923 (GRCh38)
14:23607132 (GRCh37)
Canonical SPDI:: NC_000014.9:23137922:A:C
Gene:: SLC7A8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23137923A>C, NC_000014.8:g.23607132A>C, NG_080060.1:g.424A>C, NM_012244.4:c.1014T>G, NM_012244.3:c.1014T>G, NM_182728.3:c.405T>G, NM_182728.2:c.405T>G, NM_001267037.2:c.342T>G, NM_001267037.1:c.342T>G, NM_001267036.1:c.699T>G

Select item 144444429117.

rs1444444291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23127327 (GRCh38)
14:23596536 (GRCh37)
Canonical SPDI:: NC_000014.9:23127326:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23127327C>T, NC_000014.8:g.23596536C>T, NM_012244.4:c.1458G>A, NM_012244.3:c.1458G>A, NM_182728.3:c.849G>A, NM_182728.2:c.849G>A, NR_049767.2:n.1045G>A, NR_049767.1:n.1183G>A, NM_001267037.2:c.786G>A, NM_001267037.1:c.786G>A, NM_001267036.1:c.1143G>A

Select item 144434659618.

rs1444346596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23139458 (GRCh38)
14:23608667 (GRCh37)
Canonical SPDI:: NC_000014.9:23139457:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23139458G>A, NC_000014.8:g.23608667G>A, NM_012244.4:c.878C>T, NM_012244.3:c.878C>T, NM_182728.3:c.269C>T, NM_182728.2:c.269C>T, NM_001267037.2:c.206C>T, NM_001267037.1:c.206C>T, NM_001267036.1:c.563C>T, NP_036376.2:p.Pro293Leu, NP_877392.1:p.Pro90Leu, NP_001253966.1:p.Pro69Leu, NP_001253965.1:p.Pro188Leu

Select item 144384260619.

rs1443842606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:23140474 (GRCh38)
14:23609683 (GRCh37)
Canonical SPDI:: NC_000014.9:23140473:T:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000014.9:g.23140474T>G, NC_000014.8:g.23609683T>G, NM_012244.4:c.785A>C, NM_012244.3:c.785A>C, NM_182728.3:c.176A>C, NM_182728.2:c.176A>C, NR_049767.2:n.432A>C, NR_049767.1:n.570A>C, NM_001267036.1:c.470A>C, NP_036376.2:p.Tyr262Ser, NP_877392.1:p.Tyr59Ser, NP_001253965.1:p.Tyr157Ser

Select item 144265265420.

rs1442652654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23131493 (GRCh38)
14:23600702 (GRCh37)
Canonical SPDI:: NC_000014.9:23131492:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23131493G>A, NC_000014.8:g.23600702G>A, NM_012244.4:c.1081C>T, NM_012244.3:c.1081C>T, NM_182728.3:c.472C>T, NM_182728.2:c.472C>T, NR_049767.2:n.500C>T, NR_049767.1:n.638C>T, NM_001267037.2:c.409C>T, NM_001267037.1:c.409C>T, NM_001267036.1:c.766C>T, NP_036376.2:p.Arg361Cys, NP_877392.1:p.Arg158Cys, NP_001253966.1:p.Arg137Cys, NP_001253965.1:p.Arg256Cys

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