SNP Links for Protein (Select 258645169) - SNP

Links from Protein

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Select item 14883935281.

rs1488393528 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTT [Show Flanks]
Chromosome:: 8:17548678 (GRCh38)
8:17406188 (GRCh37)
Canonical SPDI:: NC_000008.11:17548678:T:TTTTTTTT
Gene:: SLC7A2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.17548679_17548680insTTTTTTT, NC_000008.10:g.17406188_17406189insTTTTTTT, NG_030355.1:g.56592_56593insTTTTTTT, NM_003046.5:c.654_655insTTTTTTT, NM_003046.6:c.654_655insTTTTTTT, NM_001008539.3:c.534_535insTTTTTTT, NM_001008539.4:c.534_535insTTTTTTT, NM_001164771.1:c.654_655insTTTTTTT, NM_001164771.2:c.654_655insTTTTTTT, XM_005273612.5:c.534_535insTTTTTTT, XM_005273612.4:c.534_535insTTTTTTT, XM_005273612.3:c.534_535insTTTTTTT, XM_005273612.2:c.534_535insTTTTTTT, XM_005273612.1:c.534_535insTTTTTTT, XM_005273611.5:c.534_535insTTTTTTT, XM_005273611.4:c.534_535insTTTTTTT, XM_005273611.3:c.534_535insTTTTTTT, XM_005273611.2:c.534_535insTTTTTTT, XM_005273611.1:c.534_535insTTTTTTT, XM_017013746.2:c.534_535insTTTTTTT, XM_017013746.1:c.534_535insTTTTTTT, XM_047422113.1:c.534_535insTTTTTTT, NM_001370338.1:c.534_535insTTTTTTT, NM_001370337.1:c.534_535insTTTTTTT, XM_047422115.1:c.534_535insTTTTTTT, XM_047422114.1:c.534_535insTTTTTTT, XM_047422116.1:c.534_535insTTTTTTT, NP_003037.4:p.Leu219fs, NP_001008539.3:p.Leu179fs, NP_001158243.1:p.Leu219fs, XP_005273669.1:p.Leu179fs, XP_005273668.1:p.Leu179fs, XP_016869235.1:p.Leu179fs, XP_047278069.1:p.Leu179fs, NP_001357267.1:p.Leu179fs, NP_001357266.1:p.Leu179fs, XP_047278071.1:p.Leu179fs, XP_047278070.1:p.Leu179fs, XP_047278072.1:p.Leu179fs

Select item 14877418712.

rs1487741871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:17551849 (GRCh38)
8:17409358 (GRCh37)
Canonical SPDI:: NC_000008.11:17551848:C:G,NC_000008.11:17551848:C:T
Gene:: SLC7A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.17551849C>G, NC_000008.11:g.17551849C>T, NC_000008.10:g.17409358C>G, NC_000008.10:g.17409358C>T, NG_030355.1:g.59762C>G, NG_030355.1:g.59762C>T, NM_003046.5:c.1038C>G, NM_003046.5:c.1038C>T, NM_003046.6:c.1038C>G, NM_003046.6:c.1038C>T, NM_001008539.3:c.918C>G, NM_001008539.3:c.918C>T, NM_001008539.4:c.918C>G, NM_001008539.4:c.918C>T, NM_001164771.1:c.1038C>G, NM_001164771.1:c.1038C>T, NM_001164771.2:c.1038C>G, NM_001164771.2:c.1038C>T, XM_005273612.5:c.918C>G, XM_005273612.5:c.918C>T, XM_005273612.4:c.918C>G, XM_005273612.4:c.918C>T, XM_005273612.3:c.918C>G, XM_005273612.3:c.918C>T, XM_005273612.2:c.918C>G, XM_005273612.2:c.918C>T, XM_005273612.1:c.918C>G, XM_005273612.1:c.918C>T, XM_005273611.5:c.918C>G, XM_005273611.5:c.918C>T, XM_005273611.4:c.918C>G, XM_005273611.4:c.918C>T, XM_005273611.3:c.918C>G, XM_005273611.3:c.918C>T, XM_005273611.2:c.918C>G, XM_005273611.2:c.918C>T, XM_005273611.1:c.918C>G, XM_005273611.1:c.918C>T, XM_017013746.2:c.918C>G, XM_017013746.2:c.918C>T, XM_017013746.1:c.918C>G, XM_017013746.1:c.918C>T, XM_047422113.1:c.918C>G, XM_047422113.1:c.918C>T, NM_001370338.1:c.918C>G, NM_001370338.1:c.918C>T, NM_001370337.1:c.918C>G, NM_001370337.1:c.918C>T, XM_047422115.1:c.918C>G, XM_047422115.1:c.918C>T, XM_047422114.1:c.918C>G, XM_047422114.1:c.918C>T, XM_047422116.1:c.918C>G, XM_047422116.1:c.918C>T

Select item 14876670013.

rs1487667001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:17538919 (GRCh38)
8:17396428 (GRCh37)
Canonical SPDI:: NC_000008.11:17538918:T:A,NC_000008.11:17538918:T:C
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.17538919T>A, NC_000008.11:g.17538919T>C, NC_000008.10:g.17396428T>A, NC_000008.10:g.17396428T>C, NG_030355.1:g.46832T>A, NG_030355.1:g.46832T>C, NM_003046.5:c.95T>A, NM_003046.5:c.95T>C, NM_003046.6:c.95T>A, NM_003046.6:c.95T>C, NM_001164771.1:c.95T>A, NM_001164771.1:c.95T>C, NM_001164771.2:c.95T>A, NM_001164771.2:c.95T>C, NP_003037.4:p.Leu32His, NP_003037.4:p.Leu32Pro, NP_001158243.1:p.Leu32His, NP_001158243.1:p.Leu32Pro

Select item 14871049404.

rs1487104940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:17565089 (GRCh38)
8:17422598 (GRCh37)
Canonical SPDI:: NC_000008.11:17565088:T:A
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_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_000008.11:g.17565089T>A, NC_000008.10:g.17422598T>A, NG_030355.1:g.73002T>A, NM_003046.5:c.2037T>A, NM_003046.6:c.2037T>A, NM_001008539.3:c.1920T>A, NM_001008539.4:c.1920T>A, NM_001164771.1:c.2040T>A, NM_001164771.2:c.2040T>A, XM_005273612.5:c.1920T>A, XM_005273612.4:c.1920T>A, XM_005273612.3:c.1920T>A, XM_005273612.2:c.1920T>A, XM_005273612.1:c.1920T>A, XM_005273611.5:c.1920T>A, XM_005273611.4:c.1920T>A, XM_005273611.3:c.1920T>A, XM_005273611.2:c.1920T>A, XM_005273611.1:c.1920T>A, XM_017013746.2:c.1920T>A, XM_017013746.1:c.1920T>A, XM_047422113.1:c.1920T>A, NM_001370338.1:c.1920T>A, NM_001370337.1:c.1917T>A, XM_047422115.1:c.1917T>A, XM_047422114.1:c.1920T>A, XM_047422116.1:c.1917T>A, NP_003037.4:p.His679Gln, NP_001008539.3:p.His640Gln, NP_001158243.1:p.His680Gln, XP_005273669.1:p.His640Gln, XP_005273668.1:p.His640Gln, XP_016869235.1:p.His640Gln, XP_047278069.1:p.His640Gln, NP_001357267.1:p.His640Gln, NP_001357266.1:p.His639Gln, XP_047278071.1:p.His639Gln, XP_047278070.1:p.His640Gln, XP_047278072.1:p.His639Gln

Select item 14870701615.

rs1487070161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:17538922 (GRCh38)
8:17396431 (GRCh37)
Canonical SPDI:: NC_000008.11:17538921:T:G
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.17538922T>G, NC_000008.10:g.17396431T>G, NG_030355.1:g.46835T>G, NM_003046.5:c.98T>G, NM_003046.6:c.98T>G, NM_001164771.1:c.98T>G, NM_001164771.2:c.98T>G, NP_003037.4:p.Leu33Arg, NP_001158243.1:p.Leu33Arg

Select item 14844502836.

rs1484450283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:17548762 (GRCh38)
8:17406271 (GRCh37)
Canonical SPDI:: NC_000008.11:17548761:T:C
Gene:: SLC7A2 (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_000008.11:g.17548762T>C, NC_000008.10:g.17406271T>C, NG_030355.1:g.56675T>C, NM_003046.5:c.737T>C, NM_003046.6:c.737T>C, NM_001008539.3:c.617T>C, NM_001008539.4:c.617T>C, NM_001164771.1:c.737T>C, NM_001164771.2:c.737T>C, XM_005273612.5:c.617T>C, XM_005273612.4:c.617T>C, XM_005273612.3:c.617T>C, XM_005273612.2:c.617T>C, XM_005273612.1:c.617T>C, XM_005273611.5:c.617T>C, XM_005273611.4:c.617T>C, XM_005273611.3:c.617T>C, XM_005273611.2:c.617T>C, XM_005273611.1:c.617T>C, XM_017013746.2:c.617T>C, XM_017013746.1:c.617T>C, XM_047422113.1:c.617T>C, NM_001370338.1:c.617T>C, NM_001370337.1:c.617T>C, XM_047422115.1:c.617T>C, XM_047422114.1:c.617T>C, XM_047422116.1:c.617T>C, NP_003037.4:p.Met246Thr, NP_001008539.3:p.Met206Thr, NP_001158243.1:p.Met246Thr, XP_005273669.1:p.Met206Thr, XP_005273668.1:p.Met206Thr, XP_016869235.1:p.Met206Thr, XP_047278069.1:p.Met206Thr, NP_001357267.1:p.Met206Thr, NP_001357266.1:p.Met206Thr, XP_047278071.1:p.Met206Thr, XP_047278070.1:p.Met206Thr, XP_047278072.1:p.Met206Thr

Select item 14840713107.

rs1484071310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:17551834 (GRCh38)
8:17409343 (GRCh37)
Canonical SPDI:: NC_000008.11:17551833:G:A,NC_000008.11:17551833:G:T
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.17551834G>A, NC_000008.11:g.17551834G>T, NC_000008.10:g.17409343G>A, NC_000008.10:g.17409343G>T, NG_030355.1:g.59747G>A, NG_030355.1:g.59747G>T, NM_003046.5:c.1023G>A, NM_003046.5:c.1023G>T, NM_003046.6:c.1023G>A, NM_003046.6:c.1023G>T, NM_001008539.3:c.903G>A, NM_001008539.3:c.903G>T, NM_001008539.4:c.903G>A, NM_001008539.4:c.903G>T, NM_001164771.1:c.1023G>A, NM_001164771.1:c.1023G>T, NM_001164771.2:c.1023G>A, NM_001164771.2:c.1023G>T, XM_005273612.5:c.903G>A, XM_005273612.5:c.903G>T, XM_005273612.4:c.903G>A, XM_005273612.4:c.903G>T, XM_005273612.3:c.903G>A, XM_005273612.3:c.903G>T, XM_005273612.2:c.903G>A, XM_005273612.2:c.903G>T, XM_005273612.1:c.903G>A, XM_005273612.1:c.903G>T, XM_005273611.5:c.903G>A, XM_005273611.5:c.903G>T, XM_005273611.4:c.903G>A, XM_005273611.4:c.903G>T, XM_005273611.3:c.903G>A, XM_005273611.3:c.903G>T, XM_005273611.2:c.903G>A, XM_005273611.2:c.903G>T, XM_005273611.1:c.903G>A, XM_005273611.1:c.903G>T, XM_017013746.2:c.903G>A, XM_017013746.2:c.903G>T, XM_017013746.1:c.903G>A, XM_017013746.1:c.903G>T, XM_047422113.1:c.903G>A, XM_047422113.1:c.903G>T, NM_001370338.1:c.903G>A, NM_001370338.1:c.903G>T, NM_001370337.1:c.903G>A, NM_001370337.1:c.903G>T, XM_047422115.1:c.903G>A, XM_047422115.1:c.903G>T, XM_047422114.1:c.903G>A, XM_047422114.1:c.903G>T, XM_047422116.1:c.903G>A, XM_047422116.1:c.903G>T, NP_003037.4:p.Met341Ile, NP_003037.4:p.Met341Ile, NP_001008539.3:p.Met301Ile, NP_001008539.3:p.Met301Ile, NP_001158243.1:p.Met341Ile, NP_001158243.1:p.Met341Ile, XP_005273669.1:p.Met301Ile, XP_005273669.1:p.Met301Ile, XP_005273668.1:p.Met301Ile, XP_005273668.1:p.Met301Ile, XP_016869235.1:p.Met301Ile, XP_016869235.1:p.Met301Ile, XP_047278069.1:p.Met301Ile, XP_047278069.1:p.Met301Ile, NP_001357267.1:p.Met301Ile, NP_001357267.1:p.Met301Ile, NP_001357266.1:p.Met301Ile, NP_001357266.1:p.Met301Ile, XP_047278071.1:p.Met301Ile, XP_047278071.1:p.Met301Ile, XP_047278070.1:p.Met301Ile, XP_047278070.1:p.Met301Ile, XP_047278072.1:p.Met301Ile, XP_047278072.1:p.Met301Ile

Select item 14830387458.

rs1483038745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:17558344 (GRCh38)
8:17415853 (GRCh37)
Canonical SPDI:: NC_000008.11:17558343:C:A,NC_000008.11:17558343:C:T
Gene:: SLC7A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.17558344C>A, NC_000008.11:g.17558344C>T, NC_000008.10:g.17415853C>A, NC_000008.10:g.17415853C>T, NG_030355.1:g.66257C>A, NG_030355.1:g.66257C>T, NM_003046.5:c.1362C>A, NM_003046.5:c.1362C>T, NM_003046.6:c.1362C>A, NM_003046.6:c.1362C>T, NM_001008539.3:c.1245C>A, NM_001008539.3:c.1245C>T, NM_001008539.4:c.1245C>A, NM_001008539.4:c.1245C>T, NM_001164771.1:c.1365C>A, NM_001164771.1:c.1365C>T, NM_001164771.2:c.1365C>A, NM_001164771.2:c.1365C>T, XM_005273612.5:c.1245C>A, XM_005273612.5:c.1245C>T, XM_005273612.4:c.1245C>A, XM_005273612.4:c.1245C>T, XM_005273612.3:c.1245C>A, XM_005273612.3:c.1245C>T, XM_005273612.2:c.1245C>A, XM_005273612.2:c.1245C>T, XM_005273612.1:c.1245C>A, XM_005273612.1:c.1245C>T, XM_005273611.5:c.1245C>A, XM_005273611.5:c.1245C>T, XM_005273611.4:c.1245C>A, XM_005273611.4:c.1245C>T, XM_005273611.3:c.1245C>A, XM_005273611.3:c.1245C>T, XM_005273611.2:c.1245C>A, XM_005273611.2:c.1245C>T, XM_005273611.1:c.1245C>A, XM_005273611.1:c.1245C>T, XM_017013746.2:c.1245C>A, XM_017013746.2:c.1245C>T, XM_017013746.1:c.1245C>A, XM_017013746.1:c.1245C>T, XM_047422113.1:c.1245C>A, XM_047422113.1:c.1245C>T, NM_001370338.1:c.1245C>A, NM_001370338.1:c.1245C>T, NM_001370337.1:c.1242C>A, NM_001370337.1:c.1242C>T, XM_047422115.1:c.1242C>A, XM_047422115.1:c.1242C>T, XM_047422114.1:c.1245C>A, XM_047422114.1:c.1245C>T, XM_047422116.1:c.1242C>A, XM_047422116.1:c.1242C>T

Select item 14815939429.

rs1481593942 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:17563617 (GRCh38)
8:17421127 (GRCh37)
Canonical SPDI:: NC_000008.11:17563617:TTTTT:TTTTTT
Gene:: SLC7A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.17563622dup, NC_000008.10:g.17421131dup, NG_030355.1:g.71535dup, NM_003046.5:c.1808dup, NM_003046.6:c.1808dup, NM_001008539.3:c.1691dup, NM_001008539.4:c.1691dup, NM_001164771.1:c.1811dup, NM_001164771.2:c.1811dup, XM_005273612.5:c.1691dup, XM_005273612.4:c.1691dup, XM_005273612.3:c.1691dup, XM_005273612.2:c.1691dup, XM_005273612.1:c.1691dup, XM_005273611.5:c.1691dup, XM_005273611.4:c.1691dup, XM_005273611.3:c.1691dup, XM_005273611.2:c.1691dup, XM_005273611.1:c.1691dup, XM_017013746.2:c.1691dup, XM_017013746.1:c.1691dup, XM_047422113.1:c.1691dup, NM_001370338.1:c.1691dup, NM_001370337.1:c.1688dup, XM_047422115.1:c.1688dup, XM_047422114.1:c.1691dup, XM_047422116.1:c.1688dup, NP_003037.4:p.Leu603fs, NP_001008539.3:p.Leu564fs, NP_001158243.1:p.Leu604fs, XP_005273669.1:p.Leu564fs, XP_005273668.1:p.Leu564fs, XP_016869235.1:p.Leu564fs, XP_047278069.1:p.Leu564fs, NP_001357267.1:p.Leu564fs, NP_001357266.1:p.Leu563fs, XP_047278071.1:p.Leu563fs, XP_047278070.1:p.Leu564fs, XP_047278072.1:p.Leu563fs

Select item 147975143310.

rs1479751433 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:17550331 (GRCh38)
8:17407841 (GRCh37)
Canonical SPDI:: NC_000008.11:17550331:T:TT
Gene:: SLC7A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.17550332dup, NC_000008.10:g.17407841dup, NG_030355.1:g.58245dup, NM_003046.5:c.850dup, NM_003046.6:c.850dup, NM_001008539.3:c.730dup, NM_001008539.4:c.730dup, NM_001164771.1:c.850dup, NM_001164771.2:c.850dup, XM_005273612.5:c.730dup, XM_005273612.4:c.730dup, XM_005273612.3:c.730dup, XM_005273612.2:c.730dup, XM_005273612.1:c.730dup, XM_005273611.5:c.730dup, XM_005273611.4:c.730dup, XM_005273611.3:c.730dup, XM_005273611.2:c.730dup, XM_005273611.1:c.730dup, XM_017013746.2:c.730dup, XM_017013746.1:c.730dup, XM_047422113.1:c.730dup, NM_001370338.1:c.730dup, NM_001370337.1:c.730dup, XM_047422115.1:c.730dup, XM_047422114.1:c.730dup, XM_047422116.1:c.730dup, NP_003037.4:p.Tyr284fs, NP_001008539.3:p.Tyr244fs, NP_001158243.1:p.Tyr284fs, XP_005273669.1:p.Tyr244fs, XP_005273668.1:p.Tyr244fs, XP_016869235.1:p.Tyr244fs, XP_047278069.1:p.Tyr244fs, NP_001357267.1:p.Tyr244fs, NP_001357266.1:p.Tyr244fs, XP_047278071.1:p.Tyr244fs, XP_047278070.1:p.Tyr244fs, XP_047278072.1:p.Tyr244fs

Select item 147907521411.

rs1479075214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:17551870 (GRCh38)
8:17409379 (GRCh37)
Canonical SPDI:: NC_000008.11:17551869:G:A,NC_000008.11:17551869:G:C
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.17551870G>A, NC_000008.11:g.17551870G>C, NC_000008.10:g.17409379G>A, NC_000008.10:g.17409379G>C, NG_030355.1:g.59783G>A, NG_030355.1:g.59783G>C, NM_003046.5:c.1059G>A, NM_003046.5:c.1059G>C, NM_003046.6:c.1059G>A, NM_003046.6:c.1059G>C, NM_001008539.3:c.939G>A, NM_001008539.3:c.939G>C, NM_001008539.4:c.939G>A, NM_001008539.4:c.939G>C, NM_001164771.1:c.1059G>A, NM_001164771.1:c.1059G>C, NM_001164771.2:c.1059G>A, NM_001164771.2:c.1059G>C, XM_005273612.5:c.939G>A, XM_005273612.5:c.939G>C, XM_005273612.4:c.939G>A, XM_005273612.4:c.939G>C, XM_005273612.3:c.939G>A, XM_005273612.3:c.939G>C, XM_005273612.2:c.939G>A, XM_005273612.2:c.939G>C, XM_005273612.1:c.939G>A, XM_005273612.1:c.939G>C, XM_005273611.5:c.939G>A, XM_005273611.5:c.939G>C, XM_005273611.4:c.939G>A, XM_005273611.4:c.939G>C, XM_005273611.3:c.939G>A, XM_005273611.3:c.939G>C, XM_005273611.2:c.939G>A, XM_005273611.2:c.939G>C, XM_005273611.1:c.939G>A, XM_005273611.1:c.939G>C, XM_017013746.2:c.939G>A, XM_017013746.2:c.939G>C, XM_017013746.1:c.939G>A, XM_017013746.1:c.939G>C, XM_047422113.1:c.939G>A, XM_047422113.1:c.939G>C, NM_001370338.1:c.939G>A, NM_001370338.1:c.939G>C, NM_001370337.1:c.939G>A, NM_001370337.1:c.939G>C, XM_047422115.1:c.939G>A, XM_047422115.1:c.939G>C, XM_047422114.1:c.939G>A, XM_047422114.1:c.939G>C, XM_047422116.1:c.939G>A, XM_047422116.1:c.939G>C, NP_003037.4:p.Met353Ile, NP_003037.4:p.Met353Ile, NP_001008539.3:p.Met313Ile, NP_001008539.3:p.Met313Ile, NP_001158243.1:p.Met353Ile, NP_001158243.1:p.Met353Ile, XP_005273669.1:p.Met313Ile, XP_005273669.1:p.Met313Ile, XP_005273668.1:p.Met313Ile, XP_005273668.1:p.Met313Ile, XP_016869235.1:p.Met313Ile, XP_016869235.1:p.Met313Ile, XP_047278069.1:p.Met313Ile, XP_047278069.1:p.Met313Ile, NP_001357267.1:p.Met313Ile, NP_001357267.1:p.Met313Ile, NP_001357266.1:p.Met313Ile, NP_001357266.1:p.Met313Ile, XP_047278071.1:p.Met313Ile, XP_047278071.1:p.Met313Ile, XP_047278070.1:p.Met313Ile, XP_047278070.1:p.Met313Ile, XP_047278072.1:p.Met313Ile, XP_047278072.1:p.Met313Ile

Select item 147687766512.

rs1476877665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:17544592 (GRCh38)
8:17402101 (GRCh37)
Canonical SPDI:: NC_000008.11:17544591:T:C
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.17544592T>C, NC_000008.10:g.17402101T>C, NG_030355.1:g.52505T>C, NM_003046.5:c.638T>C, NM_003046.6:c.638T>C, NM_001008539.3:c.518T>C, NM_001008539.4:c.518T>C, NM_001164771.1:c.638T>C, NM_001164771.2:c.638T>C, XM_005273612.5:c.518T>C, XM_005273612.4:c.518T>C, XM_005273612.3:c.518T>C, XM_005273612.2:c.518T>C, XM_005273612.1:c.518T>C, XM_005273611.5:c.518T>C, XM_005273611.4:c.518T>C, XM_005273611.3:c.518T>C, XM_005273611.2:c.518T>C, XM_005273611.1:c.518T>C, XM_017013746.2:c.518T>C, XM_017013746.1:c.518T>C, XM_047422113.1:c.518T>C, NM_001370338.1:c.518T>C, NM_001370337.1:c.518T>C, XM_047422115.1:c.518T>C, XM_047422114.1:c.518T>C, XM_047422116.1:c.518T>C, NP_003037.4:p.Ile213Thr, NP_001008539.3:p.Ile173Thr, NP_001158243.1:p.Ile213Thr, XP_005273669.1:p.Ile173Thr, XP_005273668.1:p.Ile173Thr, XP_016869235.1:p.Ile173Thr, XP_047278069.1:p.Ile173Thr, NP_001357267.1:p.Ile173Thr, NP_001357266.1:p.Ile173Thr, XP_047278071.1:p.Ile173Thr, XP_047278070.1:p.Ile173Thr, XP_047278072.1:p.Ile173Thr

Select item 147593680513.

rs1475936805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:17561968 (GRCh38)
8:17419477 (GRCh37)
Canonical SPDI:: NC_000008.11:17561967:T:C
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.17561968T>C, NC_000008.10:g.17419477T>C, NG_030355.1:g.69881T>C, NM_003046.5:c.1646T>C, NM_003046.6:c.1646T>C, NM_001008539.3:c.1529T>C, NM_001008539.4:c.1529T>C, NM_001164771.1:c.1649T>C, NM_001164771.2:c.1649T>C, XM_005273612.5:c.1529T>C, XM_005273612.4:c.1529T>C, XM_005273612.3:c.1529T>C, XM_005273612.2:c.1529T>C, XM_005273612.1:c.1529T>C, XM_005273611.5:c.1529T>C, XM_005273611.4:c.1529T>C, XM_005273611.3:c.1529T>C, XM_005273611.2:c.1529T>C, XM_005273611.1:c.1529T>C, XM_017013746.2:c.1529T>C, XM_017013746.1:c.1529T>C, XM_047422113.1:c.1529T>C, NM_001370338.1:c.1529T>C, NM_001370337.1:c.1526T>C, XM_047422115.1:c.1526T>C, XM_047422114.1:c.1529T>C, XM_047422116.1:c.1526T>C, NP_003037.4:p.Val549Ala, NP_001008539.3:p.Val510Ala, NP_001158243.1:p.Val550Ala, XP_005273669.1:p.Val510Ala, XP_005273668.1:p.Val510Ala, XP_016869235.1:p.Val510Ala, XP_047278069.1:p.Val510Ala, NP_001357267.1:p.Val510Ala, NP_001357266.1:p.Val509Ala, XP_047278071.1:p.Val509Ala, XP_047278070.1:p.Val510Ala, XP_047278072.1:p.Val509Ala

Select item 147486174214.

rs1474861742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:17544593 (GRCh38)
8:17402102 (GRCh37)
Canonical SPDI:: NC_000008.11:17544592:A:C,NC_000008.11:17544592:A:G
Gene:: SLC7A2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_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_000008.11:g.17544593A>C, NC_000008.11:g.17544593A>G, NC_000008.10:g.17402102A>C, NC_000008.10:g.17402102A>G, NG_030355.1:g.52506A>C, NG_030355.1:g.52506A>G, NM_003046.5:c.639A>C, NM_003046.5:c.639A>G, NM_003046.6:c.639A>C, NM_003046.6:c.639A>G, NM_001008539.3:c.519A>C, NM_001008539.3:c.519A>G, NM_001008539.4:c.519A>C, NM_001008539.4:c.519A>G, NM_001164771.1:c.639A>C, NM_001164771.1:c.639A>G, NM_001164771.2:c.639A>C, NM_001164771.2:c.639A>G, XM_005273612.5:c.519A>C, XM_005273612.5:c.519A>G, XM_005273612.4:c.519A>C, XM_005273612.4:c.519A>G, XM_005273612.3:c.519A>C, XM_005273612.3:c.519A>G, XM_005273612.2:c.519A>C, XM_005273612.2:c.519A>G, XM_005273612.1:c.519A>C, XM_005273612.1:c.519A>G, XM_005273611.5:c.519A>C, XM_005273611.5:c.519A>G, XM_005273611.4:c.519A>C, XM_005273611.4:c.519A>G, XM_005273611.3:c.519A>C, XM_005273611.3:c.519A>G, XM_005273611.2:c.519A>C, XM_005273611.2:c.519A>G, XM_005273611.1:c.519A>C, XM_005273611.1:c.519A>G, XM_017013746.2:c.519A>C, XM_017013746.2:c.519A>G, XM_017013746.1:c.519A>C, XM_017013746.1:c.519A>G, XM_047422113.1:c.519A>C, XM_047422113.1:c.519A>G, NM_001370338.1:c.519A>C, NM_001370338.1:c.519A>G, NM_001370337.1:c.519A>C, NM_001370337.1:c.519A>G, XM_047422115.1:c.519A>C, XM_047422115.1:c.519A>G, XM_047422114.1:c.519A>C, XM_047422114.1:c.519A>G, XM_047422116.1:c.519A>C, XM_047422116.1:c.519A>G, NP_003037.4:p.Ile213Met, NP_001008539.3:p.Ile173Met, NP_001158243.1:p.Ile213Met, XP_005273669.1:p.Ile173Met, XP_005273668.1:p.Ile173Met, XP_016869235.1:p.Ile173Met, XP_047278069.1:p.Ile173Met, NP_001357267.1:p.Ile173Met, NP_001357266.1:p.Ile173Met, XP_047278071.1:p.Ile173Met, XP_047278070.1:p.Ile173Met, XP_047278072.1:p.Ile173Met

Select item 147150943715.

rs1471509437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:17550422 (GRCh38)
8:17407931 (GRCh37)
Canonical SPDI:: NC_000008.11:17550421:A:G
Gene:: SLC7A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.17550422A>G, NC_000008.10:g.17407931A>G, NG_030355.1:g.58335A>G, NM_003046.5:c.940A>G, NM_003046.6:c.940A>G, NM_001008539.3:c.820A>G, NM_001008539.4:c.820A>G, NM_001164771.1:c.940A>G, NM_001164771.2:c.940A>G, XM_005273612.5:c.820A>G, XM_005273612.4:c.820A>G, XM_005273612.3:c.820A>G, XM_005273612.2:c.820A>G, XM_005273612.1:c.820A>G, XM_005273611.5:c.820A>G, XM_005273611.4:c.820A>G, XM_005273611.3:c.820A>G, XM_005273611.2:c.820A>G, XM_005273611.1:c.820A>G, XM_017013746.2:c.820A>G, XM_017013746.1:c.820A>G, XM_047422113.1:c.820A>G, NM_001370338.1:c.820A>G, NM_001370337.1:c.820A>G, XM_047422115.1:c.820A>G, XM_047422114.1:c.820A>G, XM_047422116.1:c.820A>G, NP_003037.4:p.Ile314Val, NP_001008539.3:p.Ile274Val, NP_001158243.1:p.Ile314Val, XP_005273669.1:p.Ile274Val, XP_005273668.1:p.Ile274Val, XP_016869235.1:p.Ile274Val, XP_047278069.1:p.Ile274Val, NP_001357267.1:p.Ile274Val, NP_001357266.1:p.Ile274Val, XP_047278071.1:p.Ile274Val, XP_047278070.1:p.Ile274Val, XP_047278072.1:p.Ile274Val

Select item 147092155816.

rs1470921558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:17543409 (GRCh38)
8:17400918 (GRCh37)
Canonical SPDI:: NC_000008.11:17543408:A:T
Gene:: SLC7A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.17543409A>T, NC_000008.10:g.17400918A>T, NG_030355.1:g.51322A>T, NM_003046.5:c.190A>T, NM_003046.6:c.190A>T, NM_001008539.3:c.70A>T, NM_001008539.4:c.70A>T, NM_001164771.1:c.190A>T, NM_001164771.2:c.190A>T, XM_005273612.5:c.70A>T, XM_005273612.4:c.70A>T, XM_005273612.3:c.70A>T, XM_005273612.2:c.70A>T, XM_005273612.1:c.70A>T, XM_005273611.5:c.70A>T, XM_005273611.4:c.70A>T, XM_005273611.3:c.70A>T, XM_005273611.2:c.70A>T, XM_005273611.1:c.70A>T, XM_017013746.2:c.70A>T, XM_017013746.1:c.70A>T, XM_047422113.1:c.70A>T, NM_001370338.1:c.70A>T, NM_001370337.1:c.70A>T, XM_047422115.1:c.70A>T, XM_047422114.1:c.70A>T, XM_047422116.1:c.70A>T, NP_003037.4:p.Ser64Cys, NP_001008539.3:p.Ser24Cys, NP_001158243.1:p.Ser64Cys, XP_005273669.1:p.Ser24Cys, XP_005273668.1:p.Ser24Cys, XP_016869235.1:p.Ser24Cys, XP_047278069.1:p.Ser24Cys, NP_001357267.1:p.Ser24Cys, NP_001357266.1:p.Ser24Cys, XP_047278071.1:p.Ser24Cys, XP_047278070.1:p.Ser24Cys, XP_047278072.1:p.Ser24Cys

Select item 147006166817.

rs1470061668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:17543712 (GRCh38)
8:17401221 (GRCh37)
Canonical SPDI:: NC_000008.11:17543711:A:G
Gene:: SLC7A2 (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_000008.11:g.17543712A>G, NC_000008.10:g.17401221A>G, NG_030355.1:g.51625A>G, NM_003046.5:c.493A>G, NM_003046.6:c.493A>G, NM_001008539.3:c.373A>G, NM_001008539.4:c.373A>G, NM_001164771.1:c.493A>G, NM_001164771.2:c.493A>G, XM_005273612.5:c.373A>G, XM_005273612.4:c.373A>G, XM_005273612.3:c.373A>G, XM_005273612.2:c.373A>G, XM_005273612.1:c.373A>G, XM_005273611.5:c.373A>G, XM_005273611.4:c.373A>G, XM_005273611.3:c.373A>G, XM_005273611.2:c.373A>G, XM_005273611.1:c.373A>G, XM_017013746.2:c.373A>G, XM_017013746.1:c.373A>G, XM_047422113.1:c.373A>G, NM_001370338.1:c.373A>G, NM_001370337.1:c.373A>G, XM_047422115.1:c.373A>G, XM_047422114.1:c.373A>G, XM_047422116.1:c.373A>G, NP_003037.4:p.Ile165Val, NP_001008539.3:p.Ile125Val, NP_001158243.1:p.Ile165Val, XP_005273669.1:p.Ile125Val, XP_005273668.1:p.Ile125Val, XP_016869235.1:p.Ile125Val, XP_047278069.1:p.Ile125Val, NP_001357267.1:p.Ile125Val, NP_001357266.1:p.Ile125Val, XP_047278071.1:p.Ile125Val, XP_047278070.1:p.Ile125Val, XP_047278072.1:p.Ile125Val

Select item 146900468518.

rs1469004685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:17564975 (GRCh38)
8:17422484 (GRCh37)
Canonical SPDI:: NC_000008.11:17564974:C:T
Gene:: SLC7A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.17564975C>T, NC_000008.10:g.17422484C>T, NG_030355.1:g.72888C>T, NM_003046.5:c.1923C>T, NM_003046.6:c.1923C>T, NM_001008539.3:c.1806C>T, NM_001008539.4:c.1806C>T, NM_001164771.1:c.1926C>T, NM_001164771.2:c.1926C>T, XM_005273612.5:c.1806C>T, XM_005273612.4:c.1806C>T, XM_005273612.3:c.1806C>T, XM_005273612.2:c.1806C>T, XM_005273612.1:c.1806C>T, XM_005273611.5:c.1806C>T, XM_005273611.4:c.1806C>T, XM_005273611.3:c.1806C>T, XM_005273611.2:c.1806C>T, XM_005273611.1:c.1806C>T, XM_017013746.2:c.1806C>T, XM_017013746.1:c.1806C>T, XM_047422113.1:c.1806C>T, NM_001370338.1:c.1806C>T, NM_001370337.1:c.1803C>T, XM_047422115.1:c.1803C>T, XM_047422114.1:c.1806C>T, XM_047422116.1:c.1803C>T

Select item 146871376919.

rs1468713769 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCA>- [Show Flanks]
Chromosome:: 8:17543680 (GRCh38)
8:17401189 (GRCh37)
Canonical SPDI:: NC_000008.11:17543676:TCATCA:TCA
Gene:: SLC7A2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.17543677TCA[1], NC_000008.10:g.17401186TCA[1], NG_030355.1:g.51590TCA[1], NM_003046.5:c.458TCA[1], NM_003046.6:c.458TCA[1], NM_001008539.3:c.338TCA[1], NM_001008539.4:c.338TCA[1], NM_001164771.1:c.458TCA[1], NM_001164771.2:c.458TCA[1], XM_005273612.5:c.338TCA[1], XM_005273612.4:c.338TCA[1], XM_005273612.3:c.338TCA[1], XM_005273612.2:c.338TCA[1], XM_005273612.1:c.338TCA[1], XM_005273611.5:c.338TCA[1], XM_005273611.4:c.338TCA[1], XM_005273611.3:c.338TCA[1], XM_005273611.2:c.338TCA[1], XM_005273611.1:c.338TCA[1], XM_017013746.2:c.338TCA[1], XM_017013746.1:c.338TCA[1], XM_047422113.1:c.338TCA[1], NM_001370338.1:c.338TCA[1], NM_001370337.1:c.338TCA[1], XM_047422115.1:c.338TCA[1], XM_047422114.1:c.338TCA[1], XM_047422116.1:c.338TCA[1], NP_003037.4:p.Ile154del, NP_001008539.3:p.Ile114del, NP_001158243.1:p.Ile154del, XP_005273669.1:p.Ile114del, XP_005273668.1:p.Ile114del, XP_016869235.1:p.Ile114del, XP_047278069.1:p.Ile114del, NP_001357267.1:p.Ile114del, NP_001357266.1:p.Ile114del, XP_047278071.1:p.Ile114del, XP_047278070.1:p.Ile114del, XP_047278072.1:p.Ile114del

Select item 146607746120.

rs1466077461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:17544603 (GRCh38)
8:17402112 (GRCh37)
Canonical SPDI:: NC_000008.11:17544602:G:A
Gene:: SLC7A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.17544603G>A, NC_000008.10:g.17402112G>A, NG_030355.1:g.52516G>A, NM_003046.5:c.649G>A, NM_003046.6:c.649G>A, NM_001008539.3:c.529G>A, NM_001008539.4:c.529G>A, NM_001164771.1:c.649G>A, NM_001164771.2:c.649G>A, XM_005273612.5:c.529G>A, XM_005273612.4:c.529G>A, XM_005273612.3:c.529G>A, XM_005273612.2:c.529G>A, XM_005273612.1:c.529G>A, XM_005273611.5:c.529G>A, XM_005273611.4:c.529G>A, XM_005273611.3:c.529G>A, XM_005273611.2:c.529G>A, XM_005273611.1:c.529G>A, XM_017013746.2:c.529G>A, XM_017013746.1:c.529G>A, XM_047422113.1:c.529G>A, NM_001370338.1:c.529G>A, NM_001370337.1:c.529G>A, XM_047422115.1:c.529G>A, XM_047422114.1:c.529G>A, XM_047422116.1:c.529G>A, NP_003037.4:p.Ala217Thr, NP_001008539.3:p.Ala177Thr, NP_001158243.1:p.Ala217Thr, XP_005273669.1:p.Ala177Thr, XP_005273668.1:p.Ala177Thr, XP_016869235.1:p.Ala177Thr, XP_047278069.1:p.Ala177Thr, NP_001357267.1:p.Ala177Thr, NP_001357266.1:p.Ala177Thr, XP_047278071.1:p.Ala177Thr, XP_047278070.1:p.Ala177Thr, XP_047278072.1:p.Ala177Thr

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