SNP Links for Protein (Select 523567555) - SNP

Links from Protein

Items: 1 to 20 of 105

<< First< Prev

Page of 6

Next >Last >>

Select item 14773162731.

rs1477316273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100633524 (GRCh38)
X:99888521 (GRCh37)
Canonical SPDI:: NC_000023.11:100633523:C:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100633524C>T, NC_000023.10:g.99888521C>T, NG_012534.1:g.8274G>A, NM_003270.4:c.466G>A, NM_003270.3:c.466G>A, NM_001278740.2:c.202G>A, NM_001278740.1:c.202G>A, NM_001278741.1:c.202G>A, NM_001278743.1:c.202G>A, NM_001278742.1:c.202G>A, XM_011531018.2:c.202G>A, XM_011531018.1:c.202G>A, NP_003261.1:p.Val156Ile, NP_001265669.1:p.Val68Ile, NP_001265670.1:p.Val68Ile, NP_001265672.1:p.Val68Ile, NP_001265671.1:p.Val68Ile, XP_011529320.1:p.Val68Ile

Select item 14628926232.

rs1462892623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100635196 (GRCh38)
X:99890193 (GRCh37)
Canonical SPDI:: NC_000023.11:100635195:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.100635196T>C, NC_000023.10:g.99890193T>C, NG_012534.1:g.6602A>G, NM_003270.4:c.333A>G, NM_003270.3:c.333A>G, NM_001278740.2:c.69A>G, NM_001278740.1:c.69A>G, NM_001278741.1:c.69A>G, NM_001278743.1:c.69A>G, NM_001278742.1:c.69A>G, XM_011531018.2:c.69A>G, XM_011531018.1:c.69A>G

Select item 14626778583.

rs1462677858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:100633983 (GRCh38)
X:99888980 (GRCh37)
Canonical SPDI:: NC_000023.11:100633982:T:G
Gene:: TSPAN6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100633983T>G, NC_000023.10:g.99888980T>G, NG_012534.1:g.7815A>C, NM_003270.4:c.398A>C, NM_003270.3:c.398A>C, NM_001278740.2:c.134A>C, NM_001278740.1:c.134A>C, NM_001278741.1:c.134A>C, NM_001278743.1:c.134A>C, NM_001278742.1:c.134A>C, XM_011531018.2:c.134A>C, XM_011531018.1:c.134A>C, NP_003261.1:p.Tyr133Ser, NP_001265669.1:p.Tyr45Ser, NP_001265670.1:p.Tyr45Ser, NP_001265672.1:p.Tyr45Ser, NP_001265671.1:p.Tyr45Ser, XP_011529320.1:p.Tyr45Ser

Select item 14430941544.

rs1443094154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100634004 (GRCh38)
X:99889001 (GRCh37)
Canonical SPDI:: NC_000023.11:100634003:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.100634004T>C, NC_000023.10:g.99889001T>C, NG_012534.1:g.7794A>G, NM_003270.4:c.377A>G, NM_003270.3:c.377A>G, NM_001278740.2:c.113A>G, NM_001278740.1:c.113A>G, NM_001278741.1:c.113A>G, NM_001278743.1:c.113A>G, NM_001278742.1:c.113A>G, XM_011531018.2:c.113A>G, XM_011531018.1:c.113A>G, NP_003261.1:p.Tyr126Cys, NP_001265669.1:p.Tyr38Cys, NP_001265670.1:p.Tyr38Cys, NP_001265672.1:p.Tyr38Cys, NP_001265671.1:p.Tyr38Cys, XP_011529320.1:p.Tyr38Cys

Select item 14369121945.

rs1436912194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100633514 (GRCh38)
X:99888511 (GRCh37)
Canonical SPDI:: NC_000023.11:100633513:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.100633514T>C, NC_000023.10:g.99888511T>C, NG_012534.1:g.8284A>G, NM_003270.4:c.476A>G, NM_003270.3:c.476A>G, NM_001278740.2:c.212A>G, NM_001278740.1:c.212A>G, NM_001278741.1:c.212A>G, NM_001278743.1:c.212A>G, NM_001278742.1:c.212A>G, XM_011531018.2:c.212A>G, XM_011531018.1:c.212A>G, NP_003261.1:p.Tyr159Cys, NP_001265669.1:p.Tyr71Cys, NP_001265670.1:p.Tyr71Cys, NP_001265672.1:p.Tyr71Cys, NP_001265671.1:p.Tyr71Cys, XP_011529320.1:p.Tyr71Cys

Select item 14358153896.

rs1435815389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:100635214 (GRCh38)
X:99890211 (GRCh37)
Canonical SPDI:: NC_000023.11:100635213:C:G
Gene:: TSPAN6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.100635214C>G, NC_000023.10:g.99890211C>G, NG_012534.1:g.6584G>C, NM_003270.4:c.315G>C, NM_003270.3:c.315G>C, NM_001278740.2:c.51G>C, NM_001278740.1:c.51G>C, NM_001278741.1:c.51G>C, NM_001278743.1:c.51G>C, NM_001278742.1:c.51G>C, XM_011531018.2:c.51G>C, XM_011531018.1:c.51G>C

Select item 14306936307.

rs1430693630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:100630849 (GRCh38)
X:99885846 (GRCh37)
Canonical SPDI:: NC_000023.11:100630848:G:A
Gene:: TSPAN6 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000017/3 (GnomAD_exomes)
A=0.000038/10 (TOPMED)
A=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.100630849G>A, NC_000023.10:g.99885846G>A, NG_012534.1:g.10949C>T, NM_003270.4:c.687C>T, NM_003270.3:c.687C>T, NM_001278740.2:c.423C>T, NM_001278740.1:c.423C>T, NM_001278741.1:c.423C>T, NM_001278743.1:c.339C>T, XM_011531018.2:c.423C>T, XM_011531018.1:c.423C>T

Select item 14251446058.

rs1425144605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100635231 (GRCh38)
X:99890228 (GRCh37)
Canonical SPDI:: NC_000023.11:100635230:C:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.100635231C>T, NC_000023.10:g.99890228C>T, NG_012534.1:g.6567G>A, NM_003270.4:c.298G>A, NM_003270.3:c.298G>A, NM_001278740.2:c.34G>A, NM_001278740.1:c.34G>A, NM_001278741.1:c.34G>A, NM_001278743.1:c.34G>A, NM_001278742.1:c.34G>A, XM_011531018.2:c.34G>A, XM_011531018.1:c.34G>A, NP_003261.1:p.Val100Ile, NP_001265669.1:p.Val12Ile, NP_001265670.1:p.Val12Ile, NP_001265672.1:p.Val12Ile, NP_001265671.1:p.Val12Ile, XP_011529320.1:p.Val12Ile

Select item 14183570039.

rs1418357003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100632548 (GRCh38)
X:99887545 (GRCh37)
Canonical SPDI:: NC_000023.11:100632547:C:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.100632548C>T, NC_000023.10:g.99887545C>T, NG_012534.1:g.9250G>A, NM_003270.4:c.606G>A, NM_003270.3:c.606G>A, NM_001278740.2:c.342G>A, NM_001278740.1:c.342G>A, NM_001278741.1:c.342G>A, NM_001278742.1:c.342G>A, XM_011531018.2:c.342G>A, XM_011531018.1:c.342G>A, NP_003261.1:p.Met202Ile, NP_001265669.1:p.Met114Ile, NP_001265670.1:p.Met114Ile, NP_001265671.1:p.Met114Ile, XP_011529320.1:p.Met114Ile

Select item 141678785610.

rs1416787856 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTG>- [Show Flanks]
Chromosome:: X:100633421 (GRCh38)
X:99888418 (GRCh37)
Canonical SPDI:: NC_000023.11:100633418:TGTCTG:TG
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100633421_100633424del, NC_000023.10:g.99888418_99888421del, NG_012534.1:g.8376_8379del, NM_003270.4:c.568_571del, NM_003270.3:c.568_571del, NM_001278740.2:c.304_307del, NM_001278740.1:c.304_307del, NM_001278741.1:c.304_307del, NM_001278743.1:c.304_307del, NM_001278742.1:c.304_307del, XM_011531018.2:c.304_307del, XM_011531018.1:c.304_307del, NP_003261.1:p.Asp190fs, NP_001265669.1:p.Asp102fs, NP_001265670.1:p.Asp102fs, NP_001265672.1:p.Asp102fs, NP_001265671.1:p.Asp102fs, XP_011529320.1:p.Asp102fs

Select item 141447051811.

rs1414470518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:100633444 (GRCh38)
X:99888441 (GRCh37)
Canonical SPDI:: NC_000023.11:100633443:A:G
Gene:: TSPAN6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.100633444A>G, NC_000023.10:g.99888441A>G, NG_012534.1:g.8354T>C, NM_003270.4:c.546T>C, NM_003270.3:c.546T>C, NM_001278740.2:c.282T>C, NM_001278740.1:c.282T>C, NM_001278741.1:c.282T>C, NM_001278743.1:c.282T>C, NM_001278742.1:c.282T>C, XM_011531018.2:c.282T>C, XM_011531018.1:c.282T>C

Select item 138954518612.

rs1389545186 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:100635235 (GRCh38)
X:99890232 (GRCh37)
Canonical SPDI:: NC_000023.11:100635231:GAGAG:GAG
Gene:: TSPAN6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100635233AG[1], NC_000023.10:g.99890230AG[1], NG_012534.1:g.6563TC[1], NM_003270.4:c.296_297del, NM_003270.3:c.296_297del, NM_001278740.2:c.32_33del, NM_001278740.1:c.32_33del, NM_001278741.1:c.32_33del, NM_001278743.1:c.32_33del, NM_001278742.1:c.32_33del, XM_011531018.2:c.32_33del, XM_011531018.1:c.32_33del, NP_003261.1:p.Leu99fs, NP_001265669.1:p.Leu11fs, NP_001265670.1:p.Leu11fs, NP_001265672.1:p.Leu11fs, NP_001265671.1:p.Leu11fs, XP_011529320.1:p.Leu11fs

Select item 137638888513.

rs1376388885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:100633531 (GRCh38)
X:99888528 (GRCh37)
Canonical SPDI:: NC_000023.11:100633530:A:G
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100633531A>G, NC_000023.10:g.99888528A>G, NG_012534.1:g.8267T>C, NM_003270.4:c.459T>C, NM_003270.3:c.459T>C, NM_001278740.2:c.195T>C, NM_001278740.1:c.195T>C, NM_001278741.1:c.195T>C, NM_001278743.1:c.195T>C, NM_001278742.1:c.195T>C, XM_011531018.2:c.195T>C, XM_011531018.1:c.195T>C

Select item 137271459214.

rs1372714592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100630827 (GRCh38)
X:99885824 (GRCh37)
Canonical SPDI:: NC_000023.11:100630826:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.100630827T>C, NC_000023.10:g.99885824T>C, NG_012534.1:g.10971A>G, NM_003270.4:c.709A>G, NM_003270.3:c.709A>G, NM_001278740.2:c.445A>G, NM_001278740.1:c.445A>G, NM_001278741.1:c.445A>G, NM_001278743.1:c.361A>G, XM_011531018.2:c.445A>G, XM_011531018.1:c.445A>G, NP_003261.1:p.Ile237Val, NP_001265669.1:p.Ile149Val, NP_001265670.1:p.Ile149Val, NP_001265672.1:p.Ile121Val, XP_011529320.1:p.Ile149Val

Select item 137159981515.

rs1371599815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100633997 (GRCh38)
X:99888994 (GRCh37)
Canonical SPDI:: NC_000023.11:100633996:C:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.100633997C>T, NC_000023.10:g.99888994C>T, NG_012534.1:g.7801G>A, NM_003270.4:c.384G>A, NM_003270.3:c.384G>A, NM_001278740.2:c.120G>A, NM_001278740.1:c.120G>A, NM_001278741.1:c.120G>A, NM_001278743.1:c.120G>A, NM_001278742.1:c.120G>A, XM_011531018.2:c.120G>A, XM_011531018.1:c.120G>A

Select item 133833465316.

rs1338334653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100633935 (GRCh38)
X:99888932 (GRCh37)
Canonical SPDI:: NC_000023.11:100633934:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100633935T>C, NC_000023.10:g.99888932T>C, NG_012534.1:g.7863A>G, NM_003270.4:c.446A>G, NM_003270.3:c.446A>G, NM_001278740.2:c.182A>G, NM_001278740.1:c.182A>G, NM_001278741.1:c.182A>G, NM_001278743.1:c.182A>G, NM_001278742.1:c.182A>G, XM_011531018.2:c.182A>G, XM_011531018.1:c.182A>G, NP_003261.1:p.Asn149Ser, NP_001265669.1:p.Asn61Ser, NP_001265670.1:p.Asn61Ser, NP_001265672.1:p.Asn61Ser, NP_001265671.1:p.Asn61Ser, XP_011529320.1:p.Asn61Ser

Select item 133282264917.

rs1332822649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100633416 (GRCh38)
X:99888413 (GRCh37)
Canonical SPDI:: NC_000023.11:100633415:C:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.100633416C>T, NC_000023.10:g.99888413C>T, NG_012534.1:g.8382G>A, NM_003270.4:c.574G>A, NM_003270.3:c.574G>A, NM_001278740.2:c.310G>A, NM_001278740.1:c.310G>A, NM_001278741.1:c.310G>A, NM_001278743.1:c.310G>A, NM_001278742.1:c.310G>A, XM_011531018.2:c.310G>A, XM_011531018.1:c.310G>A, NP_003261.1:p.Val192Ile, NP_001265669.1:p.Val104Ile, NP_001265670.1:p.Val104Ile, NP_001265672.1:p.Val104Ile, NP_001265671.1:p.Val104Ile, XP_011529320.1:p.Val104Ile

Select item 132845882818.

rs1328458828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:100630846 (GRCh38)
X:99885843 (GRCh37)
Canonical SPDI:: NC_000023.11:100630845:G:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100630846G>C, NC_000023.10:g.99885843G>C, NG_012534.1:g.10952C>G, NM_003270.4:c.690C>G, NM_003270.3:c.690C>G, NM_001278740.2:c.426C>G, NM_001278740.1:c.426C>G, NM_001278741.1:c.426C>G, NM_001278743.1:c.342C>G, XM_011531018.2:c.426C>G, XM_011531018.1:c.426C>G

Select item 130478251519.

rs1304782515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:100633534 (GRCh38)
X:99888531 (GRCh37)
Canonical SPDI:: NC_000023.11:100633533:A:G
Gene:: TSPAN6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.000135/3 (TOMMO)
HGVS:: NC_000023.11:g.100633534A>G, NC_000023.10:g.99888531A>G, NG_012534.1:g.8264T>C, NM_003270.4:c.456T>C, NM_003270.3:c.456T>C, NM_001278740.2:c.192T>C, NM_001278740.1:c.192T>C, NM_001278741.1:c.192T>C, NM_001278743.1:c.192T>C, NM_001278742.1:c.192T>C, XM_011531018.2:c.192T>C, XM_011531018.1:c.192T>C

Select item 129684492620.

rs1296844926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100633442 (GRCh38)
X:99888439 (GRCh37)
Canonical SPDI:: NC_000023.11:100633441:C:T
Gene:: TSPAN6 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100633442C>T, NC_000023.10:g.99888439C>T, NG_012534.1:g.8356G>A, NM_003270.4:c.548G>A, NM_003270.3:c.548G>A, NM_001278740.2:c.284G>A, NM_001278740.1:c.284G>A, NM_001278741.1:c.284G>A, NM_001278743.1:c.284G>A, NM_001278742.1:c.284G>A, XM_011531018.2:c.284G>A, XM_011531018.1:c.284G>A, NP_003261.1:p.Cys183Tyr, NP_001265669.1:p.Cys95Tyr, NP_001265670.1:p.Cys95Tyr, NP_001265672.1:p.Cys95Tyr, NP_001265671.1:p.Cys95Tyr, XP_011529320.1:p.Cys95Tyr

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 105

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity