SNP Links for Protein (Select 767966791) - SNP

Select item 14901012471.

rs1490101247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:44919907 (GRCh38)
11:44941458 (GRCh37)
Canonical SPDI:: NC_000011.10:44919906:G:T
Gene:: TSPAN18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.44919907G>T, NC_000011.9:g.44941458G>T, NM_130783.5:c.523G>T, NM_130783.4:c.523G>T, XM_005253217.4:c.553G>T, XM_005253217.3:c.553G>T, XM_005253217.2:c.553G>T, XM_005253217.1:c.553G>T, XM_006718372.4:c.553G>T, XM_006718372.3:c.553G>T, XM_006718372.2:c.553G>T, XM_006718372.1:c.553G>T, XM_011520459.4:c.523G>T, XM_011520459.3:c.523G>T, XM_011520459.2:c.523G>T, XM_011520459.1:c.523G>T, XM_047427846.1:c.553G>T, XM_047427849.1:c.553G>T, XM_047427847.1:c.553G>T, XM_047427848.1:c.553G>T, NM_001031730.1:c.523G>T, NP_570139.3:p.Ala175Ser, XP_005253274.1:p.Ala185Ser, XP_006718435.1:p.Ala185Ser, XP_011518761.1:p.Ala175Ser, XP_047283802.1:p.Ala185Ser, XP_047283805.1:p.Ala185Ser, XP_047283803.1:p.Ala185Ser, XP_047283804.1:p.Ala185Ser

Select item 14862971632.

rs1486297163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:44909864 (GRCh38)
11:44931415 (GRCh37)
Canonical SPDI:: NC_000011.10:44909863:G:A
Gene:: TSPAN18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.44909864G>A, NC_000011.9:g.44931415G>A, NM_130783.5:c.223G>A, NM_130783.4:c.223G>A, XM_005253217.4:c.253G>A, XM_005253217.3:c.253G>A, XM_005253217.2:c.253G>A, XM_005253217.1:c.253G>A, XM_006718372.4:c.253G>A, XM_006718372.3:c.253G>A, XM_006718372.2:c.253G>A, XM_006718372.1:c.253G>A, XM_011520459.4:c.223G>A, XM_011520459.3:c.223G>A, XM_011520459.2:c.223G>A, XM_011520459.1:c.223G>A, XM_047427846.1:c.253G>A, XM_047427849.1:c.253G>A, XM_047427847.1:c.253G>A, XM_047427848.1:c.253G>A, NM_001031730.1:c.223G>A, NP_570139.3:p.Gly75Arg, XP_005253274.1:p.Gly85Arg, XP_006718435.1:p.Gly85Arg, XP_011518761.1:p.Gly75Arg, XP_047283802.1:p.Gly85Arg, XP_047283805.1:p.Gly85Arg, XP_047283803.1:p.Gly85Arg, XP_047283804.1:p.Gly85Arg

Select item 14772540593.

rs1477254059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:44926723 (GRCh38)
11:44948274 (GRCh37)
Canonical SPDI:: NC_000011.10:44926722:C:T
Gene:: TSPAN18 (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_000011.10:g.44926723C>T, NC_000011.9:g.44948274C>T, NM_130783.5:c.665C>T, NM_130783.4:c.665C>T, XM_005253217.4:c.695C>T, XM_005253217.3:c.695C>T, XM_005253217.2:c.695C>T, XM_005253217.1:c.695C>T, XM_006718372.4:c.695C>T, XM_006718372.3:c.695C>T, XM_006718372.2:c.695C>T, XM_006718372.1:c.695C>T, XM_011520459.4:c.665C>T, XM_011520459.3:c.665C>T, XM_011520459.2:c.665C>T, XM_011520459.1:c.665C>T, XM_047427846.1:c.695C>T, XM_047427849.1:c.695C>T, XM_047427847.1:c.695C>T, XM_047427848.1:c.695C>T, NM_001031730.1:c.665C>T, NP_570139.3:p.Ala222Val, XP_005253274.1:p.Ala232Val, XP_006718435.1:p.Ala232Val, XP_011518761.1:p.Ala222Val, XP_047283802.1:p.Ala232Val, XP_047283805.1:p.Ala232Val, XP_047283803.1:p.Ala232Val, XP_047283804.1:p.Ala232Val

Select item 14771717814.

rs1477171781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:44919261 (GRCh38)
11:44940812 (GRCh37)
Canonical SPDI:: NC_000011.10:44919260:C:A,NC_000011.10:44919260:C:T
Gene:: TSPAN18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.44919261C>A, NC_000011.10:g.44919261C>T, NC_000011.9:g.44940812C>A, NC_000011.9:g.44940812C>T, NM_130783.5:c.381C>A, NM_130783.5:c.381C>T, NM_130783.4:c.381C>A, NM_130783.4:c.381C>T, XM_005253217.4:c.411C>A, XM_005253217.4:c.411C>T, XM_005253217.3:c.411C>A, XM_005253217.3:c.411C>T, XM_005253217.2:c.411C>A, XM_005253217.2:c.411C>T, XM_005253217.1:c.411C>A, XM_005253217.1:c.411C>T, XM_006718372.4:c.411C>A, XM_006718372.4:c.411C>T, XM_006718372.3:c.411C>A, XM_006718372.3:c.411C>T, XM_006718372.2:c.411C>A, XM_006718372.2:c.411C>T, XM_006718372.1:c.411C>A, XM_006718372.1:c.411C>T, XM_011520459.4:c.381C>A, XM_011520459.4:c.381C>T, XM_011520459.3:c.381C>A, XM_011520459.3:c.381C>T, XM_011520459.2:c.381C>A, XM_011520459.2:c.381C>T, XM_011520459.1:c.381C>A, XM_011520459.1:c.381C>T, XM_047427846.1:c.411C>A, XM_047427846.1:c.411C>T, XM_047427849.1:c.411C>A, XM_047427849.1:c.411C>T, XM_047427847.1:c.411C>A, XM_047427847.1:c.411C>T, XM_047427848.1:c.411C>A, XM_047427848.1:c.411C>T, NM_001031730.1:c.381C>A, NM_001031730.1:c.381C>T

Select item 14710493095.

rs1471049309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:44906430 (GRCh38)
11:44927981 (GRCh37)
Canonical SPDI:: NC_000011.10:44906429:G:A
Gene:: TSPAN18 (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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.44906430G>A, NC_000011.9:g.44927981G>A, NM_130783.5:c.14G>A, NM_130783.4:c.14G>A, XM_005253217.4:c.44G>A, XM_005253217.3:c.44G>A, XM_005253217.2:c.44G>A, XM_005253217.1:c.44G>A, XM_006718372.4:c.44G>A, XM_006718372.3:c.44G>A, XM_006718372.2:c.44G>A, XM_006718372.1:c.44G>A, XM_011520459.4:c.14G>A, XM_011520459.3:c.14G>A, XM_011520459.2:c.14G>A, XM_011520459.1:c.14G>A, XM_047427846.1:c.44G>A, XM_047427849.1:c.44G>A, XM_047427847.1:c.44G>A, XM_047427848.1:c.44G>A, NM_001031730.1:c.14G>A, NP_570139.3:p.Cys5Tyr, XP_005253274.1:p.Cys15Tyr, XP_006718435.1:p.Cys15Tyr, XP_011518761.1:p.Cys5Tyr, XP_047283802.1:p.Cys15Tyr, XP_047283805.1:p.Cys15Tyr, XP_047283803.1:p.Cys15Tyr, XP_047283804.1:p.Cys15Tyr

Select item 14625264766.

rs1462526476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:44909754 (GRCh38)
11:44931305 (GRCh37)
Canonical SPDI:: NC_000011.10:44909753:C:T
Gene:: TSPAN18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.44909754C>T, NC_000011.9:g.44931305C>T, NM_130783.5:c.113C>T, NM_130783.4:c.113C>T, XM_005253217.4:c.143C>T, XM_005253217.3:c.143C>T, XM_005253217.2:c.143C>T, XM_005253217.1:c.143C>T, XM_006718372.4:c.143C>T, XM_006718372.3:c.143C>T, XM_006718372.2:c.143C>T, XM_006718372.1:c.143C>T, XM_011520459.4:c.113C>T, XM_011520459.3:c.113C>T, XM_011520459.2:c.113C>T, XM_011520459.1:c.113C>T, XM_047427846.1:c.143C>T, XM_047427849.1:c.143C>T, XM_047427847.1:c.143C>T, XM_047427848.1:c.143C>T, NM_001031730.1:c.113C>T, NP_570139.3:p.Pro38Leu, XP_005253274.1:p.Pro48Leu, XP_006718435.1:p.Pro48Leu, XP_011518761.1:p.Pro38Leu, XP_047283802.1:p.Pro48Leu, XP_047283805.1:p.Pro48Leu, XP_047283803.1:p.Pro48Leu, XP_047283804.1:p.Pro48Leu

Select item 14553001467.

rs1455300146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:44918013 (GRCh38)
11:44939564 (GRCh37)
Canonical SPDI:: NC_000011.10:44918012:A:G
Gene:: TSPAN18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.44918013A>G, NC_000011.9:g.44939564A>G, NM_130783.5:c.300A>G, NM_130783.4:c.300A>G, XM_005253217.4:c.330A>G, XM_005253217.3:c.330A>G, XM_005253217.2:c.330A>G, XM_005253217.1:c.330A>G, XM_006718372.4:c.330A>G, XM_006718372.3:c.330A>G, XM_006718372.2:c.330A>G, XM_006718372.1:c.330A>G, XM_011520459.4:c.300A>G, XM_011520459.3:c.300A>G, XM_011520459.2:c.300A>G, XM_011520459.1:c.300A>G, XM_047427846.1:c.330A>G, XM_047427849.1:c.330A>G, XM_047427847.1:c.330A>G, XM_047427848.1:c.330A>G, NM_001031730.1:c.300A>G

Select item 14546693358.

rs1454669335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:44909808 (GRCh38)
11:44931359 (GRCh37)
Canonical SPDI:: NC_000011.10:44909807:A:G
Gene:: TSPAN18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.44909808A>G, NC_000011.9:g.44931359A>G, NM_130783.5:c.167A>G, NM_130783.4:c.167A>G, XM_005253217.4:c.197A>G, XM_005253217.3:c.197A>G, XM_005253217.2:c.197A>G, XM_005253217.1:c.197A>G, XM_006718372.4:c.197A>G, XM_006718372.3:c.197A>G, XM_006718372.2:c.197A>G, XM_006718372.1:c.197A>G, XM_011520459.4:c.167A>G, XM_011520459.3:c.167A>G, XM_011520459.2:c.167A>G, XM_011520459.1:c.167A>G, XM_047427846.1:c.197A>G, XM_047427849.1:c.197A>G, XM_047427847.1:c.197A>G, XM_047427848.1:c.197A>G, NM_001031730.1:c.167A>G, NP_570139.3:p.Tyr56Cys, XP_005253274.1:p.Tyr66Cys, XP_006718435.1:p.Tyr66Cys, XP_011518761.1:p.Tyr56Cys, XP_047283802.1:p.Tyr66Cys, XP_047283805.1:p.Tyr66Cys, XP_047283803.1:p.Tyr66Cys, XP_047283804.1:p.Tyr66Cys

Select item 14463312269.

rs1446331226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:44926738 (GRCh38)
11:44948289 (GRCh37)
Canonical SPDI:: NC_000011.10:44926737:T:C
Gene:: TSPAN18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.44926738T>C, NC_000011.9:g.44948289T>C, NM_130783.5:c.680T>C, NM_130783.4:c.680T>C, XM_005253217.4:c.710T>C, XM_005253217.3:c.710T>C, XM_005253217.2:c.710T>C, XM_005253217.1:c.710T>C, XM_006718372.4:c.710T>C, XM_006718372.3:c.710T>C, XM_006718372.2:c.710T>C, XM_006718372.1:c.710T>C, XM_011520459.4:c.680T>C, XM_011520459.3:c.680T>C, XM_011520459.2:c.680T>C, XM_011520459.1:c.680T>C, XM_047427846.1:c.710T>C, XM_047427849.1:c.710T>C, XM_047427847.1:c.710T>C, XM_047427848.1:c.710T>C, NM_001031730.1:c.680T>C, NP_570139.3:p.Ile227Thr, XP_005253274.1:p.Ile237Thr, XP_006718435.1:p.Ile237Thr, XP_011518761.1:p.Ile227Thr, XP_047283802.1:p.Ile237Thr, XP_047283805.1:p.Ile237Thr, XP_047283803.1:p.Ile237Thr, XP_047283804.1:p.Ile237Thr

Select item 143990716710.

rs1439907167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:44926706 (GRCh38)
11:44948257 (GRCh37)
Canonical SPDI:: NC_000011.10:44926705:G:A
Gene:: TSPAN18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.44926706G>A, NC_000011.9:g.44948257G>A, NM_130783.5:c.648G>A, NM_130783.4:c.648G>A, XM_005253217.4:c.678G>A, XM_005253217.3:c.678G>A, XM_005253217.2:c.678G>A, XM_005253217.1:c.678G>A, XM_006718372.4:c.678G>A, XM_006718372.3:c.678G>A, XM_006718372.2:c.678G>A, XM_006718372.1:c.678G>A, XM_011520459.4:c.648G>A, XM_011520459.3:c.648G>A, XM_011520459.2:c.648G>A, XM_011520459.1:c.648G>A, XM_047427846.1:c.678G>A, XM_047427849.1:c.678G>A, XM_047427847.1:c.678G>A, XM_047427848.1:c.678G>A, NM_001031730.1:c.648G>A

Select item 143805357311.

rs1438053573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:44919836 (GRCh38)
11:44941387 (GRCh37)
Canonical SPDI:: NC_000011.10:44919835:A:G
Gene:: TSPAN18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.44919836A>G, NC_000011.9:g.44941387A>G, NM_130783.5:c.452A>G, NM_130783.4:c.452A>G, XM_005253217.4:c.482A>G, XM_005253217.3:c.482A>G, XM_005253217.2:c.482A>G, XM_005253217.1:c.482A>G, XM_006718372.4:c.482A>G, XM_006718372.3:c.482A>G, XM_006718372.2:c.482A>G, XM_006718372.1:c.482A>G, XM_011520459.4:c.452A>G, XM_011520459.3:c.452A>G, XM_011520459.2:c.452A>G, XM_011520459.1:c.452A>G, XM_047427846.1:c.482A>G, XM_047427849.1:c.482A>G, XM_047427847.1:c.482A>G, XM_047427848.1:c.482A>G, NM_001031730.1:c.452A>G, NP_570139.3:p.Asn151Ser, XP_005253274.1:p.Asn161Ser, XP_006718435.1:p.Asn161Ser, XP_011518761.1:p.Asn151Ser, XP_047283802.1:p.Asn161Ser, XP_047283805.1:p.Asn161Ser, XP_047283803.1:p.Asn161Ser, XP_047283804.1:p.Asn161Ser

Select item 142386638112.

rs1423866381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:44918032 (GRCh38)
11:44939583 (GRCh37)
Canonical SPDI:: NC_000011.10:44918031:A:G
Gene:: TSPAN18 (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_000011.10:g.44918032A>G, NC_000011.9:g.44939583A>G, NM_130783.5:c.319A>G, NM_130783.4:c.319A>G, XM_005253217.4:c.349A>G, XM_005253217.3:c.349A>G, XM_005253217.2:c.349A>G, XM_005253217.1:c.349A>G, XM_006718372.4:c.349A>G, XM_006718372.3:c.349A>G, XM_006718372.2:c.349A>G, XM_006718372.1:c.349A>G, XM_011520459.4:c.319A>G, XM_011520459.3:c.319A>G, XM_011520459.2:c.319A>G, XM_011520459.1:c.319A>G, XM_047427846.1:c.349A>G, XM_047427849.1:c.349A>G, XM_047427847.1:c.349A>G, XM_047427848.1:c.349A>G, NM_001031730.1:c.319A>G, NP_570139.3:p.Ile107Val, XP_005253274.1:p.Ile117Val, XP_006718435.1:p.Ile117Val, XP_011518761.1:p.Ile107Val, XP_047283802.1:p.Ile117Val, XP_047283805.1:p.Ile117Val, XP_047283803.1:p.Ile117Val, XP_047283804.1:p.Ile117Val

Select item 142248997413.

rs1422489974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:44909884 (GRCh38)
11:44931435 (GRCh37)
Canonical SPDI:: NC_000011.10:44909883:G:A
Gene:: TSPAN18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.44909884G>A, NC_000011.9:g.44931435G>A, NM_130783.5:c.243G>A, NM_130783.4:c.243G>A, XM_005253217.4:c.273G>A, XM_005253217.3:c.273G>A, XM_005253217.2:c.273G>A, XM_005253217.1:c.273G>A, XM_006718372.4:c.273G>A, XM_006718372.3:c.273G>A, XM_006718372.2:c.273G>A, XM_006718372.1:c.273G>A, XM_011520459.4:c.243G>A, XM_011520459.3:c.243G>A, XM_011520459.2:c.243G>A, XM_011520459.1:c.243G>A, XM_047427846.1:c.273G>A, XM_047427849.1:c.273G>A, XM_047427847.1:c.273G>A, XM_047427848.1:c.273G>A, NM_001031730.1:c.243G>A

Select item 141806990014.

rs1418069900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:44906446 (GRCh38)
11:44927997 (GRCh37)
Canonical SPDI:: NC_000011.10:44906445:G:A
Gene:: TSPAN18 (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=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.44906446G>A, NC_000011.9:g.44927997G>A, NM_130783.5:c.30G>A, NM_130783.4:c.30G>A, XM_005253217.4:c.60G>A, XM_005253217.3:c.60G>A, XM_005253217.2:c.60G>A, XM_005253217.1:c.60G>A, XM_006718372.4:c.60G>A, XM_006718372.3:c.60G>A, XM_006718372.2:c.60G>A, XM_006718372.1:c.60G>A, XM_011520459.4:c.30G>A, XM_011520459.3:c.30G>A, XM_011520459.2:c.30G>A, XM_011520459.1:c.30G>A, XM_047427846.1:c.60G>A, XM_047427849.1:c.60G>A, XM_047427847.1:c.60G>A, XM_047427848.1:c.60G>A, NM_001031730.1:c.30G>A

Select item 141364816715.

rs1413648167 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:44909884 (GRCh38)
11:44931435 (GRCh37)
Canonical SPDI:: NC_000011.10:44909883:G:
Gene:: TSPAN18 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.44909884del, NC_000011.9:g.44931435del, NM_130783.5:c.243del, NM_130783.4:c.243del, XM_005253217.4:c.273del, XM_005253217.3:c.273del, XM_005253217.2:c.273del, XM_005253217.1:c.273del, XM_006718372.4:c.273del, XM_006718372.3:c.273del, XM_006718372.2:c.273del, XM_006718372.1:c.273del, XM_011520459.4:c.243del, XM_011520459.3:c.243del, XM_011520459.2:c.243del, XM_011520459.1:c.243del, XM_047427846.1:c.273del, XM_047427849.1:c.273del, XM_047427847.1:c.273del, XM_047427848.1:c.273del, NM_001031730.1:c.243del, NP_570139.3:p.Lys81fs, XP_005253274.1:p.Lys91fs, XP_006718435.1:p.Lys91fs, XP_011518761.1:p.Lys81fs, XP_047283802.1:p.Lys91fs, XP_047283805.1:p.Lys91fs, XP_047283803.1:p.Lys91fs, XP_047283804.1:p.Lys91fs

Select item 141222972416.

rs1412229724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:44918033 (GRCh38)
11:44939584 (GRCh37)
Canonical SPDI:: NC_000011.10:44918032:T:A
Gene:: TSPAN18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.44918033T>A, NC_000011.9:g.44939584T>A, NM_130783.5:c.320T>A, NM_130783.4:c.320T>A, XM_005253217.4:c.350T>A, XM_005253217.3:c.350T>A, XM_005253217.2:c.350T>A, XM_005253217.1:c.350T>A, XM_006718372.4:c.350T>A, XM_006718372.3:c.350T>A, XM_006718372.2:c.350T>A, XM_006718372.1:c.350T>A, XM_011520459.4:c.320T>A, XM_011520459.3:c.320T>A, XM_011520459.2:c.320T>A, XM_011520459.1:c.320T>A, XM_047427846.1:c.350T>A, XM_047427849.1:c.350T>A, XM_047427847.1:c.350T>A, XM_047427848.1:c.350T>A, NM_001031730.1:c.320T>A, NP_570139.3:p.Ile107Asn, XP_005253274.1:p.Ile117Asn, XP_006718435.1:p.Ile117Asn, XP_011518761.1:p.Ile107Asn, XP_047283802.1:p.Ile117Asn, XP_047283805.1:p.Ile117Asn, XP_047283803.1:p.Ile117Asn, XP_047283804.1:p.Ile117Asn

Select item 141056501017.

rs1410565010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:44926694 (GRCh38)
11:44948245 (GRCh37)
Canonical SPDI:: NC_000011.10:44926693:C:T
Gene:: TSPAN18 (Varview)
Functional Consequence:: synonymous_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_000011.10:g.44926694C>T, NC_000011.9:g.44948245C>T, NM_130783.5:c.636C>T, NM_130783.4:c.636C>T, XM_005253217.4:c.666C>T, XM_005253217.3:c.666C>T, XM_005253217.2:c.666C>T, XM_005253217.1:c.666C>T, XM_006718372.4:c.666C>T, XM_006718372.3:c.666C>T, XM_006718372.2:c.666C>T, XM_006718372.1:c.666C>T, XM_011520459.4:c.636C>T, XM_011520459.3:c.636C>T, XM_011520459.2:c.636C>T, XM_011520459.1:c.636C>T, XM_047427846.1:c.666C>T, XM_047427849.1:c.666C>T, XM_047427847.1:c.666C>T, XM_047427848.1:c.666C>T, NM_001031730.1:c.636C>T

Select item 140966940218.

rs1409669402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:44919293 (GRCh38)
11:44940844 (GRCh37)
Canonical SPDI:: NC_000011.10:44919292:G:A
Gene:: TSPAN18 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.44919293G>A, NC_000011.9:g.44940844G>A, NM_130783.5:c.413G>A, NM_130783.4:c.413G>A, XM_005253217.4:c.443G>A, XM_005253217.3:c.443G>A, XM_005253217.2:c.443G>A, XM_005253217.1:c.443G>A, XM_006718372.4:c.443G>A, XM_006718372.3:c.443G>A, XM_006718372.2:c.443G>A, XM_006718372.1:c.443G>A, XM_011520459.4:c.413G>A, XM_011520459.3:c.413G>A, XM_011520459.2:c.413G>A, XM_011520459.1:c.413G>A, XM_047427846.1:c.443G>A, XM_047427849.1:c.443G>A, XM_047427847.1:c.443G>A, XM_047427848.1:c.443G>A, NM_001031730.1:c.413G>A, NP_570139.3:p.Trp138Ter, XP_005253274.1:p.Trp148Ter, XP_006718435.1:p.Trp148Ter, XP_011518761.1:p.Trp138Ter, XP_047283802.1:p.Trp148Ter, XP_047283805.1:p.Trp148Ter, XP_047283803.1:p.Trp148Ter, XP_047283804.1:p.Trp148Ter

Select item 139923201419.

rs1399232014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:44919852 (GRCh38)
11:44941403 (GRCh37)
Canonical SPDI:: NC_000011.10:44919851:T:C
Gene:: TSPAN18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.44919852T>C, NC_000011.9:g.44941403T>C, NM_130783.5:c.468T>C, NM_130783.4:c.468T>C, XM_005253217.4:c.498T>C, XM_005253217.3:c.498T>C, XM_005253217.2:c.498T>C, XM_005253217.1:c.498T>C, XM_006718372.4:c.498T>C, XM_006718372.3:c.498T>C, XM_006718372.2:c.498T>C, XM_006718372.1:c.498T>C, XM_011520459.4:c.468T>C, XM_011520459.3:c.468T>C, XM_011520459.2:c.468T>C, XM_011520459.1:c.468T>C, XM_047427846.1:c.498T>C, XM_047427849.1:c.498T>C, XM_047427847.1:c.498T>C, XM_047427848.1:c.498T>C, NM_001031730.1:c.468T>C

Select item 138589327220.

rs1385893272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:44909764 (GRCh38)
11:44931315 (GRCh37)
Canonical SPDI:: NC_000011.10:44909763:C:A
Gene:: TSPAN18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.44909764C>A, NC_000011.9:g.44931315C>A, NM_130783.5:c.123C>A, NM_130783.4:c.123C>A, XM_005253217.4:c.153C>A, XM_005253217.3:c.153C>A, XM_005253217.2:c.153C>A, XM_005253217.1:c.153C>A, XM_006718372.4:c.153C>A, XM_006718372.3:c.153C>A, XM_006718372.2:c.153C>A, XM_006718372.1:c.153C>A, XM_011520459.4:c.123C>A, XM_011520459.3:c.123C>A, XM_011520459.2:c.123C>A, XM_011520459.1:c.123C>A, XM_047427846.1:c.153C>A, XM_047427849.1:c.153C>A, XM_047427847.1:c.153C>A, XM_047427848.1:c.153C>A, NM_001031730.1:c.123C>A, NP_570139.3:p.Phe41Leu, XP_005253274.1:p.Phe51Leu, XP_006718435.1:p.Phe51Leu, XP_011518761.1:p.Phe41Leu, XP_047283802.1:p.Phe51Leu, XP_047283805.1:p.Phe51Leu, XP_047283803.1:p.Phe51Leu, XP_047283804.1:p.Phe51Leu

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 248

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 248

Page of 13

Page of 13

Display Settings:

Supplemental Content

Find related data

Recent activity