SNP Links for Protein (Select 1021589300) - SNP

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Links from Protein

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Select item 14903542291.

rs1490354229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:59672814 (GRCh38)
10:61432572 (GRCh37)
Canonical SPDI:: NC_000010.11:59672813:G:A
Gene:: SLC16A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.59672814G>A, NC_000010.10:g.61432572G>A, XM_017015884.3:c.296C>T, XM_017015884.2:c.296C>T, XM_017015884.1:c.296C>T, NM_194298.3:c.296C>T, NM_194298.2:c.296C>T, XM_017015883.2:c.296C>T, XM_017015883.1:c.296C>T, XM_024447878.2:c.296C>T, XM_024447878.1:c.296C>T, NM_001323981.2:c.296C>T, NM_001323981.1:c.296C>T, NM_001323978.2:c.35C>T, NM_001323978.1:c.35C>T, NM_001323980.2:c.35C>T, NM_001323980.1:c.35C>T, NM_001323979.2:c.35C>T, NM_001323979.1:c.35C>T, XM_047424757.1:c.296C>T, XM_047424753.1:c.296C>T, XM_047424756.1:c.296C>T, XM_047424754.1:c.296C>T, XM_047424755.1:c.296C>T, NM_001323977.1:c.35C>T, XP_016871373.1:p.Ala99Val, NP_919274.1:p.Ala99Val, XP_016871372.1:p.Ala99Val, XP_024303646.1:p.Ala99Val, NP_001310910.1:p.Ala99Val, NP_001310907.1:p.Ala12Val, NP_001310909.1:p.Ala12Val, NP_001310908.1:p.Ala12Val, XP_047280713.1:p.Ala99Val, XP_047280709.1:p.Ala99Val, XP_047280712.1:p.Ala99Val, XP_047280710.1:p.Ala99Val, XP_047280711.1:p.Ala99Val, NP_001310906.1:p.Ala12Val

Select item 14868974652.

rs1486897465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:59664276 (GRCh38)
10:61424034 (GRCh37)
Canonical SPDI:: NC_000010.11:59664275:G:A
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.59664276G>A, NC_000010.10:g.61424034G>A, XM_017015884.3:c.387C>T, XM_017015884.2:c.387C>T, XM_017015884.1:c.387C>T, NM_194298.3:c.387C>T, NM_194298.2:c.387C>T, XM_017015883.2:c.387C>T, XM_017015883.1:c.387C>T, XM_024447878.2:c.387C>T, XM_024447878.1:c.387C>T, NM_001323981.2:c.387C>T, NM_001323981.1:c.387C>T, NM_001323978.2:c.126C>T, NM_001323978.1:c.126C>T, NM_001323980.2:c.126C>T, NM_001323980.1:c.126C>T, NM_001323979.2:c.126C>T, NM_001323979.1:c.126C>T, XM_047424757.1:c.387C>T, XM_047424753.1:c.387C>T, XM_047424756.1:c.387C>T, XM_047424754.1:c.387C>T, XM_047424755.1:c.387C>T, NM_001323977.1:c.126C>T

Select item 14863763243.

rs1486376324 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 10:59652800 (GRCh38)
10:61412558 (GRCh37)
Canonical SPDI:: NC_000010.11:59652799:AAA:AA
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.59652802del, NC_000010.10:g.61412560del, XM_017015884.3:c.1502del, XM_017015884.2:c.1502del, XM_017015884.1:c.1502del, NM_194298.3:c.1502del, NM_194298.2:c.1502del, XM_017015883.2:c.1628del, XM_017015883.1:c.1628del, XM_024447878.2:c.1502del, XM_024447878.1:c.1502del, NM_001323981.2:c.1502del, NM_001323981.1:c.1502del, NM_001323978.2:c.1241del, NM_001323978.1:c.1241del, NM_001323980.2:c.1241del, NM_001323980.1:c.1241del, NM_001323979.2:c.1241del, NM_001323979.1:c.1241del, XM_047424757.1:c.1502del, XM_047424753.1:c.1628del, XM_047424756.1:c.1628del, XM_047424754.1:c.1628del, XM_047424755.1:c.1628del, NM_001323977.1:c.1241del, XP_016871373.1:p.Phe501fs, NP_919274.1:p.Phe501fs, XP_016871372.1:p.Phe543fs, XP_024303646.1:p.Phe501fs, NP_001310910.1:p.Phe501fs, NP_001310907.1:p.Phe414fs, NP_001310909.1:p.Phe414fs, NP_001310908.1:p.Phe414fs, XP_047280713.1:p.Phe501fs, XP_047280709.1:p.Phe543fs, XP_047280712.1:p.Phe543fs, XP_047280710.1:p.Phe543fs, XP_047280711.1:p.Phe543fs, NP_001310906.1:p.Phe414fs

Select item 14798396204.

rs1479839620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:59654506 (GRCh38)
10:61414264 (GRCh37)
Canonical SPDI:: NC_000010.11:59654505:C:T
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.59654506C>T, NC_000010.10:g.61414264C>T, XM_017015884.3:c.520G>A, XM_017015884.2:c.520G>A, XM_017015884.1:c.520G>A, NM_194298.3:c.520G>A, NM_194298.2:c.520G>A, XM_017015883.2:c.520G>A, XM_017015883.1:c.520G>A, XM_024447878.2:c.520G>A, XM_024447878.1:c.520G>A, NM_001323981.2:c.520G>A, NM_001323981.1:c.520G>A, NM_001323978.2:c.259G>A, NM_001323978.1:c.259G>A, NM_001323980.2:c.259G>A, NM_001323980.1:c.259G>A, NM_001323979.2:c.259G>A, NM_001323979.1:c.259G>A, XM_047424757.1:c.520G>A, XM_047424753.1:c.520G>A, XM_047424756.1:c.520G>A, XM_047424754.1:c.520G>A, XM_047424755.1:c.520G>A, NM_001323977.1:c.259G>A, XP_016871373.1:p.Val174Met, NP_919274.1:p.Val174Met, XP_016871372.1:p.Val174Met, XP_024303646.1:p.Val174Met, NP_001310910.1:p.Val174Met, NP_001310907.1:p.Val87Met, NP_001310909.1:p.Val87Met, NP_001310908.1:p.Val87Met, XP_047280713.1:p.Val174Met, XP_047280709.1:p.Val174Met, XP_047280712.1:p.Val174Met, XP_047280710.1:p.Val174Met, XP_047280711.1:p.Val174Met, NP_001310906.1:p.Val87Met

Select item 14796037785.

rs1479603778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:59654528 (GRCh38)
10:61414286 (GRCh37)
Canonical SPDI:: NC_000010.11:59654527:T:G
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.001027/3 (KOREAN)
HGVS:: NC_000010.11:g.59654528T>G, NC_000010.10:g.61414286T>G, XM_017015884.3:c.498A>C, XM_017015884.2:c.498A>C, XM_017015884.1:c.498A>C, NM_194298.3:c.498A>C, NM_194298.2:c.498A>C, XM_017015883.2:c.498A>C, XM_017015883.1:c.498A>C, XM_024447878.2:c.498A>C, XM_024447878.1:c.498A>C, NM_001323981.2:c.498A>C, NM_001323981.1:c.498A>C, NM_001323978.2:c.237A>C, NM_001323978.1:c.237A>C, NM_001323980.2:c.237A>C, NM_001323980.1:c.237A>C, NM_001323979.2:c.237A>C, NM_001323979.1:c.237A>C, XM_047424757.1:c.498A>C, XM_047424753.1:c.498A>C, XM_047424756.1:c.498A>C, XM_047424754.1:c.498A>C, XM_047424755.1:c.498A>C, NM_001323977.1:c.237A>C

Select item 14748254686.

rs1474825468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:59654312 (GRCh38)
10:61414070 (GRCh37)
Canonical SPDI:: NC_000010.11:59654311:G:A
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.59654312G>A, NC_000010.10:g.61414070G>A, XM_017015884.3:c.714C>T, XM_017015884.2:c.714C>T, XM_017015884.1:c.714C>T, NM_194298.3:c.714C>T, NM_194298.2:c.714C>T, XM_017015883.2:c.714C>T, XM_017015883.1:c.714C>T, XM_024447878.2:c.714C>T, XM_024447878.1:c.714C>T, NM_001323981.2:c.714C>T, NM_001323981.1:c.714C>T, NM_001323978.2:c.453C>T, NM_001323978.1:c.453C>T, NM_001323980.2:c.453C>T, NM_001323980.1:c.453C>T, NM_001323979.2:c.453C>T, NM_001323979.1:c.453C>T, XM_047424757.1:c.714C>T, XM_047424753.1:c.714C>T, XM_047424756.1:c.714C>T, XM_047424754.1:c.714C>T, XM_047424755.1:c.714C>T, NM_001323977.1:c.453C>T

Select item 14730240037.

rs1473024003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:59653958 (GRCh38)
10:61413716 (GRCh37)
Canonical SPDI:: NC_000010.11:59653957:A:G
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.59653958A>G, NC_000010.10:g.61413716A>G, XM_017015884.3:c.1068T>C, XM_017015884.2:c.1068T>C, XM_017015884.1:c.1068T>C, NM_194298.3:c.1068T>C, NM_194298.2:c.1068T>C, XM_017015883.2:c.1068T>C, XM_017015883.1:c.1068T>C, XM_024447878.2:c.1068T>C, XM_024447878.1:c.1068T>C, NM_001323981.2:c.1068T>C, NM_001323981.1:c.1068T>C, NM_001323978.2:c.807T>C, NM_001323978.1:c.807T>C, NM_001323980.2:c.807T>C, NM_001323980.1:c.807T>C, NM_001323979.2:c.807T>C, NM_001323979.1:c.807T>C, XM_047424757.1:c.1068T>C, XM_047424753.1:c.1068T>C, XM_047424756.1:c.1068T>C, XM_047424754.1:c.1068T>C, XM_047424755.1:c.1068T>C, NM_001323977.1:c.807T>C

Select item 14700482468.

rs1470048246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:59654483 (GRCh38)
10:61414241 (GRCh37)
Canonical SPDI:: NC_000010.11:59654482:T:C
Gene:: SLC16A9 (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_000010.11:g.59654483T>C, NC_000010.10:g.61414241T>C, XM_017015884.3:c.543A>G, XM_017015884.2:c.543A>G, XM_017015884.1:c.543A>G, NM_194298.3:c.543A>G, NM_194298.2:c.543A>G, XM_017015883.2:c.543A>G, XM_017015883.1:c.543A>G, XM_024447878.2:c.543A>G, XM_024447878.1:c.543A>G, NM_001323981.2:c.543A>G, NM_001323981.1:c.543A>G, NM_001323978.2:c.282A>G, NM_001323978.1:c.282A>G, NM_001323980.2:c.282A>G, NM_001323980.1:c.282A>G, NM_001323979.2:c.282A>G, NM_001323979.1:c.282A>G, XM_047424757.1:c.543A>G, XM_047424753.1:c.543A>G, XM_047424756.1:c.543A>G, XM_047424754.1:c.543A>G, XM_047424755.1:c.543A>G, NM_001323977.1:c.282A>G, XP_016871373.1:p.Ile181Met, NP_919274.1:p.Ile181Met, XP_016871372.1:p.Ile181Met, XP_024303646.1:p.Ile181Met, NP_001310910.1:p.Ile181Met, NP_001310907.1:p.Ile94Met, NP_001310909.1:p.Ile94Met, NP_001310908.1:p.Ile94Met, XP_047280713.1:p.Ile181Met, XP_047280709.1:p.Ile181Met, XP_047280712.1:p.Ile181Met, XP_047280710.1:p.Ile181Met, XP_047280711.1:p.Ile181Met, NP_001310906.1:p.Ile94Met

Select item 14685184329.

rs1468518432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:59672810 (GRCh38)
10:61432568 (GRCh37)
Canonical SPDI:: NC_000010.11:59672809:G:A
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.59672810G>A, NC_000010.10:g.61432568G>A, XM_017015884.3:c.300C>T, XM_017015884.2:c.300C>T, XM_017015884.1:c.300C>T, NM_194298.3:c.300C>T, NM_194298.2:c.300C>T, XM_017015883.2:c.300C>T, XM_017015883.1:c.300C>T, XM_024447878.2:c.300C>T, XM_024447878.1:c.300C>T, NM_001323981.2:c.300C>T, NM_001323981.1:c.300C>T, NM_001323978.2:c.39C>T, NM_001323978.1:c.39C>T, NM_001323980.2:c.39C>T, NM_001323980.1:c.39C>T, NM_001323979.2:c.39C>T, NM_001323979.1:c.39C>T, XM_047424757.1:c.300C>T, XM_047424753.1:c.300C>T, XM_047424756.1:c.300C>T, XM_047424754.1:c.300C>T, XM_047424755.1:c.300C>T, NM_001323977.1:c.39C>T

Select item 146847408210.

rs1468474082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:59654240 (GRCh38)
10:61413998 (GRCh37)
Canonical SPDI:: NC_000010.11:59654239:T:C
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.59654240T>C, NC_000010.10:g.61413998T>C, XM_017015884.3:c.786A>G, XM_017015884.2:c.786A>G, XM_017015884.1:c.786A>G, NM_194298.3:c.786A>G, NM_194298.2:c.786A>G, XM_017015883.2:c.786A>G, XM_017015883.1:c.786A>G, XM_024447878.2:c.786A>G, XM_024447878.1:c.786A>G, NM_001323981.2:c.786A>G, NM_001323981.1:c.786A>G, NM_001323978.2:c.525A>G, NM_001323978.1:c.525A>G, NM_001323980.2:c.525A>G, NM_001323980.1:c.525A>G, NM_001323979.2:c.525A>G, NM_001323979.1:c.525A>G, XM_047424757.1:c.786A>G, XM_047424753.1:c.786A>G, XM_047424756.1:c.786A>G, XM_047424754.1:c.786A>G, XM_047424755.1:c.786A>G, NM_001323977.1:c.525A>G

Select item 146602766311.

rs1466027663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:59654165 (GRCh38)
10:61413923 (GRCh37)
Canonical SPDI:: NC_000010.11:59654164:C:T
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.59654165C>T, NC_000010.10:g.61413923C>T, XM_017015884.3:c.861G>A, XM_017015884.2:c.861G>A, XM_017015884.1:c.861G>A, NM_194298.3:c.861G>A, NM_194298.2:c.861G>A, XM_017015883.2:c.861G>A, XM_017015883.1:c.861G>A, XM_024447878.2:c.861G>A, XM_024447878.1:c.861G>A, NM_001323981.2:c.861G>A, NM_001323981.1:c.861G>A, NM_001323978.2:c.600G>A, NM_001323978.1:c.600G>A, NM_001323980.2:c.600G>A, NM_001323980.1:c.600G>A, NM_001323979.2:c.600G>A, NM_001323979.1:c.600G>A, XM_047424757.1:c.861G>A, XM_047424753.1:c.861G>A, XM_047424756.1:c.861G>A, XM_047424754.1:c.861G>A, XM_047424755.1:c.861G>A, NM_001323977.1:c.600G>A, XP_016871373.1:p.Trp287Ter, NP_919274.1:p.Trp287Ter, XP_016871372.1:p.Trp287Ter, XP_024303646.1:p.Trp287Ter, NP_001310910.1:p.Trp287Ter, NP_001310907.1:p.Trp200Ter, NP_001310909.1:p.Trp200Ter, NP_001310908.1:p.Trp200Ter, XP_047280713.1:p.Trp287Ter, XP_047280709.1:p.Trp287Ter, XP_047280712.1:p.Trp287Ter, XP_047280710.1:p.Trp287Ter, XP_047280711.1:p.Trp287Ter, NP_001310906.1:p.Trp200Ter

Select item 146593604712.

rs1465936047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:59652777 (GRCh38)
10:61412535 (GRCh37)
Canonical SPDI:: NC_000010.11:59652776:C:T
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.59652777C>T, NC_000010.10:g.61412535C>T, XM_017015884.3:c.1525G>A, XM_017015884.2:c.1525G>A, XM_017015884.1:c.1525G>A, NM_194298.3:c.1525G>A, NM_194298.2:c.1525G>A, XM_017015883.2:c.1651G>A, XM_017015883.1:c.1651G>A, XM_024447878.2:c.1525G>A, XM_024447878.1:c.1525G>A, NM_001323981.2:c.1525G>A, NM_001323981.1:c.1525G>A, NM_001323978.2:c.1264G>A, NM_001323978.1:c.1264G>A, NM_001323980.2:c.1264G>A, NM_001323980.1:c.1264G>A, NM_001323979.2:c.1264G>A, NM_001323979.1:c.1264G>A, XM_047424757.1:c.1525G>A, XM_047424753.1:c.1651G>A, XM_047424756.1:c.1651G>A, XM_047424754.1:c.1651G>A, XM_047424755.1:c.1651G>A, NM_001323977.1:c.1264G>A, XP_016871373.1:p.Val509Ile, NP_919274.1:p.Val509Ile, XP_016871372.1:p.Val551Ile, XP_024303646.1:p.Val509Ile, NP_001310910.1:p.Val509Ile, NP_001310907.1:p.Val422Ile, NP_001310909.1:p.Val422Ile, NP_001310908.1:p.Val422Ile, XP_047280713.1:p.Val509Ile, XP_047280709.1:p.Val551Ile, XP_047280712.1:p.Val551Ile, XP_047280710.1:p.Val551Ile, XP_047280711.1:p.Val551Ile, NP_001310906.1:p.Val422Ile

Select item 146569339613.

rs1465693396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:59654342 (GRCh38)
10:61414100 (GRCh37)
Canonical SPDI:: NC_000010.11:59654341:A:G
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.59654342A>G, NC_000010.10:g.61414100A>G, XM_017015884.3:c.684T>C, XM_017015884.2:c.684T>C, XM_017015884.1:c.684T>C, NM_194298.3:c.684T>C, NM_194298.2:c.684T>C, XM_017015883.2:c.684T>C, XM_017015883.1:c.684T>C, XM_024447878.2:c.684T>C, XM_024447878.1:c.684T>C, NM_001323981.2:c.684T>C, NM_001323981.1:c.684T>C, NM_001323978.2:c.423T>C, NM_001323978.1:c.423T>C, NM_001323980.2:c.423T>C, NM_001323980.1:c.423T>C, NM_001323979.2:c.423T>C, NM_001323979.1:c.423T>C, XM_047424757.1:c.684T>C, XM_047424753.1:c.684T>C, XM_047424756.1:c.684T>C, XM_047424754.1:c.684T>C, XM_047424755.1:c.684T>C, NM_001323977.1:c.423T>C

Select item 146080983814.

rs1460809838 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:59654552 (GRCh38)
10:61414311 (GRCh37)
Canonical SPDI:: NC_000010.11:59654552:T:TT
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.59654553dup, NC_000010.10:g.61414311dup, XM_017015884.3:c.473dup, XM_017015884.2:c.473dup, XM_017015884.1:c.473dup, NM_194298.3:c.473dup, NM_194298.2:c.473dup, XM_017015883.2:c.473dup, XM_017015883.1:c.473dup, XM_024447878.2:c.473dup, XM_024447878.1:c.473dup, NM_001323981.2:c.473dup, NM_001323981.1:c.473dup, NM_001323978.2:c.212dup, NM_001323978.1:c.212dup, NM_001323980.2:c.212dup, NM_001323980.1:c.212dup, NM_001323979.2:c.212dup, NM_001323979.1:c.212dup, XM_047424757.1:c.473dup, XM_047424753.1:c.473dup, XM_047424756.1:c.473dup, XM_047424754.1:c.473dup, XM_047424755.1:c.473dup, NM_001323977.1:c.212dup, XP_016871373.1:p.Arg159fs, NP_919274.1:p.Arg159fs, XP_016871372.1:p.Arg159fs, XP_024303646.1:p.Arg159fs, NP_001310910.1:p.Arg159fs, NP_001310907.1:p.Arg72fs, NP_001310909.1:p.Arg72fs, NP_001310908.1:p.Arg72fs, XP_047280713.1:p.Arg159fs, XP_047280709.1:p.Arg159fs, XP_047280712.1:p.Arg159fs, XP_047280710.1:p.Arg159fs, XP_047280711.1:p.Arg159fs, NP_001310906.1:p.Arg72fs

Select item 145989926415.

rs1459899264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:59653922 (GRCh38)
10:61413680 (GRCh37)
Canonical SPDI:: NC_000010.11:59653921:C:A
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.59653922C>A, NC_000010.10:g.61413680C>A, XM_017015884.3:c.1104G>T, XM_017015884.2:c.1104G>T, XM_017015884.1:c.1104G>T, NM_194298.3:c.1104G>T, NM_194298.2:c.1104G>T, XM_017015883.2:c.1104G>T, XM_017015883.1:c.1104G>T, XM_024447878.2:c.1104G>T, XM_024447878.1:c.1104G>T, NM_001323981.2:c.1104G>T, NM_001323981.1:c.1104G>T, NM_001323978.2:c.843G>T, NM_001323978.1:c.843G>T, NM_001323980.2:c.843G>T, NM_001323980.1:c.843G>T, NM_001323979.2:c.843G>T, NM_001323979.1:c.843G>T, XM_047424757.1:c.1104G>T, XM_047424753.1:c.1104G>T, XM_047424756.1:c.1104G>T, XM_047424754.1:c.1104G>T, XM_047424755.1:c.1104G>T, NM_001323977.1:c.843G>T, XP_016871373.1:p.Trp368Cys, NP_919274.1:p.Trp368Cys, XP_016871372.1:p.Trp368Cys, XP_024303646.1:p.Trp368Cys, NP_001310910.1:p.Trp368Cys, NP_001310907.1:p.Trp281Cys, NP_001310909.1:p.Trp281Cys, NP_001310908.1:p.Trp281Cys, XP_047280713.1:p.Trp368Cys, XP_047280709.1:p.Trp368Cys, XP_047280712.1:p.Trp368Cys, XP_047280710.1:p.Trp368Cys, XP_047280711.1:p.Trp368Cys, NP_001310906.1:p.Trp281Cys

Select item 145923530616.

rs1459235306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:59654234 (GRCh38)
10:61413992 (GRCh37)
Canonical SPDI:: NC_000010.11:59654233:C:T
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.59654234C>T, NC_000010.10:g.61413992C>T, XM_017015884.3:c.792G>A, XM_017015884.2:c.792G>A, XM_017015884.1:c.792G>A, NM_194298.3:c.792G>A, NM_194298.2:c.792G>A, XM_017015883.2:c.792G>A, XM_017015883.1:c.792G>A, XM_024447878.2:c.792G>A, XM_024447878.1:c.792G>A, NM_001323981.2:c.792G>A, NM_001323981.1:c.792G>A, NM_001323978.2:c.531G>A, NM_001323978.1:c.531G>A, NM_001323980.2:c.531G>A, NM_001323980.1:c.531G>A, NM_001323979.2:c.531G>A, NM_001323979.1:c.531G>A, XM_047424757.1:c.792G>A, XM_047424753.1:c.792G>A, XM_047424756.1:c.792G>A, XM_047424754.1:c.792G>A, XM_047424755.1:c.792G>A, NM_001323977.1:c.531G>A

Select item 145697314217.

rs1456973142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:59653952 (GRCh38)
10:61413710 (GRCh37)
Canonical SPDI:: NC_000010.11:59653951:C:T
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.59653952C>T, NC_000010.10:g.61413710C>T, XM_017015884.3:c.1074G>A, XM_017015884.2:c.1074G>A, XM_017015884.1:c.1074G>A, NM_194298.3:c.1074G>A, NM_194298.2:c.1074G>A, XM_017015883.2:c.1074G>A, XM_017015883.1:c.1074G>A, XM_024447878.2:c.1074G>A, XM_024447878.1:c.1074G>A, NM_001323981.2:c.1074G>A, NM_001323981.1:c.1074G>A, NM_001323978.2:c.813G>A, NM_001323978.1:c.813G>A, NM_001323980.2:c.813G>A, NM_001323980.1:c.813G>A, NM_001323979.2:c.813G>A, NM_001323979.1:c.813G>A, XM_047424757.1:c.1074G>A, XM_047424753.1:c.1074G>A, XM_047424756.1:c.1074G>A, XM_047424754.1:c.1074G>A, XM_047424755.1:c.1074G>A, NM_001323977.1:c.813G>A

Select item 144842969718.

rs1448429697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:59653994 (GRCh38)
10:61413752 (GRCh37)
Canonical SPDI:: NC_000010.11:59653993:T:C
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.59653994T>C, NC_000010.10:g.61413752T>C, XM_017015884.3:c.1032A>G, XM_017015884.2:c.1032A>G, XM_017015884.1:c.1032A>G, NM_194298.3:c.1032A>G, NM_194298.2:c.1032A>G, XM_017015883.2:c.1032A>G, XM_017015883.1:c.1032A>G, XM_024447878.2:c.1032A>G, XM_024447878.1:c.1032A>G, NM_001323981.2:c.1032A>G, NM_001323981.1:c.1032A>G, NM_001323978.2:c.771A>G, NM_001323978.1:c.771A>G, NM_001323980.2:c.771A>G, NM_001323980.1:c.771A>G, NM_001323979.2:c.771A>G, NM_001323979.1:c.771A>G, XM_047424757.1:c.1032A>G, XM_047424753.1:c.1032A>G, XM_047424756.1:c.1032A>G, XM_047424754.1:c.1032A>G, XM_047424755.1:c.1032A>G, NM_001323977.1:c.771A>G

Select item 144689724819.

rs1446897248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:59654137 (GRCh38)
10:61413895 (GRCh37)
Canonical SPDI:: NC_000010.11:59654136:T:G
Gene:: SLC16A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.59654137T>G, NC_000010.10:g.61413895T>G, XM_017015884.3:c.889A>C, XM_017015884.2:c.889A>C, XM_017015884.1:c.889A>C, NM_194298.3:c.889A>C, NM_194298.2:c.889A>C, XM_017015883.2:c.889A>C, XM_017015883.1:c.889A>C, XM_024447878.2:c.889A>C, XM_024447878.1:c.889A>C, NM_001323981.2:c.889A>C, NM_001323981.1:c.889A>C, NM_001323978.2:c.628A>C, NM_001323978.1:c.628A>C, NM_001323980.2:c.628A>C, NM_001323980.1:c.628A>C, NM_001323979.2:c.628A>C, NM_001323979.1:c.628A>C, XM_047424757.1:c.889A>C, XM_047424753.1:c.889A>C, XM_047424756.1:c.889A>C, XM_047424754.1:c.889A>C, XM_047424755.1:c.889A>C, NM_001323977.1:c.628A>C, XP_016871373.1:p.Thr297Pro, NP_919274.1:p.Thr297Pro, XP_016871372.1:p.Thr297Pro, XP_024303646.1:p.Thr297Pro, NP_001310910.1:p.Thr297Pro, NP_001310907.1:p.Thr210Pro, NP_001310909.1:p.Thr210Pro, NP_001310908.1:p.Thr210Pro, XP_047280713.1:p.Thr297Pro, XP_047280709.1:p.Thr297Pro, XP_047280712.1:p.Thr297Pro, XP_047280710.1:p.Thr297Pro, XP_047280711.1:p.Thr297Pro, NP_001310906.1:p.Thr210Pro

Select item 144495458820.

rs1444954588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:59654154 (GRCh38)
10:61413912 (GRCh37)
Canonical SPDI:: NC_000010.11:59654153:T:C
Gene:: SLC16A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.59654154T>C, NC_000010.10:g.61413912T>C, XM_017015884.3:c.872A>G, XM_017015884.2:c.872A>G, XM_017015884.1:c.872A>G, NM_194298.3:c.872A>G, NM_194298.2:c.872A>G, XM_017015883.2:c.872A>G, XM_017015883.1:c.872A>G, XM_024447878.2:c.872A>G, XM_024447878.1:c.872A>G, NM_001323981.2:c.872A>G, NM_001323981.1:c.872A>G, NM_001323978.2:c.611A>G, NM_001323978.1:c.611A>G, NM_001323980.2:c.611A>G, NM_001323980.1:c.611A>G, NM_001323979.2:c.611A>G, NM_001323979.1:c.611A>G, XM_047424757.1:c.872A>G, XM_047424753.1:c.872A>G, XM_047424756.1:c.872A>G, XM_047424754.1:c.872A>G, XM_047424755.1:c.872A>G, NM_001323977.1:c.611A>G, XP_016871373.1:p.Lys291Arg, NP_919274.1:p.Lys291Arg, XP_016871372.1:p.Lys291Arg, XP_024303646.1:p.Lys291Arg, NP_001310910.1:p.Lys291Arg, NP_001310907.1:p.Lys204Arg, NP_001310909.1:p.Lys204Arg, NP_001310908.1:p.Lys204Arg, XP_047280713.1:p.Lys291Arg, XP_047280709.1:p.Lys291Arg, XP_047280712.1:p.Lys291Arg, XP_047280710.1:p.Lys291Arg, XP_047280711.1:p.Lys291Arg, NP_001310906.1:p.Lys204Arg

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