SNP Links for Protein (Select 17986283) - SNP

Links from Protein

Items: 1 to 20 of 226

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Select item 14892138621.

rs1489213862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49185295 (GRCh38)
12:49579078 (GRCh37)
Canonical SPDI:: NC_000012.12:49185294:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49185295G>A, NC_000012.11:g.49579078G>A, NG_008966.1:g.8784C>T, NM_006009.4:c.1071C>T, NM_006009.3:c.1071C>T, NM_001270399.2:c.1071C>T, NM_001270399.1:c.1071C>T, NM_001270400.2:c.966C>T, NM_001270400.1:c.966C>T

Select item 14888232902.

rs1488823290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49185922 (GRCh38)
12:49579705 (GRCh37)
Canonical SPDI:: NC_000012.12:49185921:C:T
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49185922C>T, NC_000012.11:g.49579705C>T, NG_008966.1:g.8157G>A, NM_006009.4:c.444G>A, NM_006009.3:c.444G>A, NM_001270399.2:c.444G>A, NM_001270399.1:c.444G>A, NM_001270400.2:c.339G>A, NM_001270400.1:c.339G>A

Select item 14881255323.

rs1488125532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49185849 (GRCh38)
12:49579632 (GRCh37)
Canonical SPDI:: NC_000012.12:49185848:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49185849G>A, NC_000012.11:g.49579632G>A, NG_008966.1:g.8230C>T, NM_006009.4:c.517C>T, NM_006009.3:c.517C>T, NM_001270399.2:c.517C>T, NM_001270399.1:c.517C>T, NM_001270400.2:c.412C>T, NM_001270400.1:c.412C>T, NP_006000.2:p.Pro173Ser, NP_001257328.1:p.Pro173Ser, NP_001257329.1:p.Pro138Ser

Select item 14786532364.

rs1478653236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:49185553 (GRCh38)
12:49579336 (GRCh37)
Canonical SPDI:: NC_000012.12:49185552:T:A
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.49185553T>A, NC_000012.11:g.49579336T>A, NG_008966.1:g.8526A>T, NM_006009.4:c.813A>T, NM_006009.3:c.813A>T, NM_001270399.2:c.813A>T, NM_001270399.1:c.813A>T, NM_001270400.2:c.708A>T, NM_001270400.1:c.708A>T

Select item 14657264425.

rs1465726442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49186418 (GRCh38)
12:49580201 (GRCh37)
Canonical SPDI:: NC_000012.12:49186417:A:G
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49186418A>G, NC_000012.11:g.49580201A>G, NG_008966.1:g.7661T>C, NM_006009.4:c.267T>C, NM_006009.3:c.267T>C, NM_001270399.2:c.267T>C, NM_001270399.1:c.267T>C, NM_001270400.2:c.162T>C, NM_001270400.1:c.162T>C

Select item 14650037926.

rs1465003792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49185424 (GRCh38)
12:49579207 (GRCh37)
Canonical SPDI:: NC_000012.12:49185423:A:G
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.49185424A>G, NC_000012.11:g.49579207A>G, NG_008966.1:g.8655T>C, NM_006009.4:c.942T>C, NM_006009.3:c.942T>C, NM_001270399.2:c.942T>C, NM_001270399.1:c.942T>C, NM_001270400.2:c.837T>C, NM_001270400.1:c.837T>C

Select item 14589949087.

rs1458994908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49186343 (GRCh38)
12:49580126 (GRCh37)
Canonical SPDI:: NC_000012.12:49186342:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49186343G>A, NC_000012.11:g.49580126G>A, NG_008966.1:g.7736C>T, NM_006009.4:c.342C>T, NM_006009.3:c.342C>T, NM_001270399.2:c.342C>T, NM_001270399.1:c.342C>T, NM_001270400.2:c.237C>T, NM_001270400.1:c.237C>T

Select item 14542290798.

rs1454229079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49186717 (GRCh38)
12:49580500 (GRCh37)
Canonical SPDI:: NC_000012.12:49186716:C:T
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49186717C>T, NC_000012.11:g.49580500C>T, NG_008966.1:g.7362G>A, NM_006009.4:c.120G>A, NM_006009.3:c.120G>A, NM_001270399.2:c.120G>A, NM_001270399.1:c.120G>A, NM_001270400.2:c.15G>A, NM_001270400.1:c.15G>A

Select item 14405119339.

rs1440511933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49186759 (GRCh38)
12:49580542 (GRCh37)
Canonical SPDI:: NC_000012.12:49186758:C:T
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.49186759C>T, NC_000012.11:g.49580542C>T, NG_008966.1:g.7320G>A, NM_006009.4:c.78G>A, NM_006009.3:c.78G>A, NM_001270399.2:c.78G>A, NM_001270399.1:c.78G>A, NM_001270400.2:c.-28G>A, NM_001270400.1:c.-28G>A

Select item 143875346410.

rs1438753464 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:49186642 (GRCh38)
12:49580425 (GRCh37)
Canonical SPDI:: NC_000012.12:49186641:T:A
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49186642T>A, NC_000012.11:g.49580425T>A, NG_008966.1:g.7437A>T, NM_006009.4:c.195A>T, NM_006009.3:c.195A>T, NM_001270399.2:c.195A>T, NM_001270399.1:c.195A>T, NM_001270400.2:c.90A>T, NM_001270400.1:c.90A>T

Select item 143313691311.

rs1433136913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49185593 (GRCh38)
12:49579376 (GRCh37)
Canonical SPDI:: NC_000012.12:49185592:T:C
Gene:: TUBA1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.49185593T>C, NC_000012.11:g.49579376T>C, NG_008966.1:g.8486A>G, NM_006009.4:c.773A>G, NM_006009.3:c.773A>G, NM_001270399.2:c.773A>G, NM_001270399.1:c.773A>G, NM_001270400.2:c.668A>G, NM_001270400.1:c.668A>G, NP_006000.2:p.Asn258Ser, NP_001257328.1:p.Asn258Ser, NP_001257329.1:p.Asn223Ser

Select item 142288567112.

rs1422885671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:49186403 (GRCh38)
12:49580186 (GRCh37)
Canonical SPDI:: NC_000012.12:49186402:T:G
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49186403T>G, NC_000012.11:g.49580186T>G, NG_008966.1:g.7676A>C, NM_006009.4:c.282A>C, NM_006009.3:c.282A>C, NM_001270399.2:c.282A>C, NM_001270399.1:c.282A>C, NM_001270400.2:c.177A>C, NM_001270400.1:c.177A>C

Select item 142127202913.

rs1421272029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49185919 (GRCh38)
12:49579702 (GRCh37)
Canonical SPDI:: NC_000012.12:49185918:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49185919G>A, NC_000012.11:g.49579702G>A, NG_008966.1:g.8160C>T, NM_006009.4:c.447C>T, NM_006009.3:c.447C>T, NM_001270399.2:c.447C>T, NM_001270399.1:c.447C>T, NM_001270400.2:c.342C>T, NM_001270400.1:c.342C>T

Select item 141352396214.

rs1413523962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49185379 (GRCh38)
12:49579162 (GRCh37)
Canonical SPDI:: NC_000012.12:49185378:A:G
Gene:: TUBA1A (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=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49185379A>G, NC_000012.11:g.49579162A>G, NG_008966.1:g.8700T>C, NM_006009.4:c.987T>C, NM_006009.3:c.987T>C, NM_001270399.2:c.987T>C, NM_001270399.1:c.987T>C, NM_001270400.2:c.882T>C, NM_001270400.1:c.882T>C

Select item 140366058115.

rs1403660581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49185217 (GRCh38)
12:49579000 (GRCh37)
Canonical SPDI:: NC_000012.12:49185216:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49185217G>A, NC_000012.11:g.49579000G>A, NG_008966.1:g.8862C>T, NM_006009.4:c.1149C>T, NM_006009.3:c.1149C>T, NM_001270399.2:c.1149C>T, NM_001270399.1:c.1149C>T, NM_001270400.2:c.1044C>T, NM_001270400.1:c.1044C>T

Select item 140086480116.

rs1400864801 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:49185228 (GRCh38)
12:49579012 (GRCh37)
Canonical SPDI:: NC_000012.12:49185228:G:GG
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000012.12:g.49185229dup, NC_000012.11:g.49579012dup, NG_008966.1:g.8850dup, NM_006009.4:c.1137dup, NM_006009.3:c.1137dup, NM_001270399.2:c.1137dup, NM_001270399.1:c.1137dup, NM_001270400.2:c.1032dup, NM_001270400.1:c.1032dup, NP_006000.2:p.Asn380fs, NP_001257328.1:p.Asn380fs, NP_001257329.1:p.Asn345fs

Select item 140028446117.

rs1400284461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49186434 (GRCh38)
12:49580217 (GRCh37)
Canonical SPDI:: NC_000012.12:49186433:C:T
Gene:: TUBA1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000012.12:g.49186434C>T, NC_000012.11:g.49580217C>T, NG_008966.1:g.7645G>A, NM_006009.4:c.251G>A, NM_006009.3:c.251G>A, NM_001270399.2:c.251G>A, NM_001270399.1:c.251G>A, NM_001270400.2:c.146G>A, NM_001270400.1:c.146G>A, NP_006000.2:p.Arg84His, NP_001257328.1:p.Arg84His, NP_001257329.1:p.Arg49His

Select item 139758182318.

rs1397581823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49185785 (GRCh38)
12:49579568 (GRCh37)
Canonical SPDI:: NC_000012.12:49185784:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000012.12:g.49185785G>A, NC_000012.11:g.49579568G>A, NG_008966.1:g.8294C>T, NM_006009.4:c.581C>T, NM_006009.3:c.581C>T, NM_001270399.2:c.581C>T, NM_001270399.1:c.581C>T, NM_001270400.2:c.476C>T, NM_001270400.1:c.476C>T, NP_006000.2:p.Thr194Ile, NP_001257328.1:p.Thr194Ile, NP_001257329.1:p.Thr159Ile

Select item 138476904919.

rs1384769049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49185283 (GRCh38)
12:49579066 (GRCh37)
Canonical SPDI:: NC_000012.12:49185282:A:G
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49185283A>G, NC_000012.11:g.49579066A>G, NG_008966.1:g.8796T>C, NM_006009.4:c.1083T>C, NM_006009.3:c.1083T>C, NM_001270399.2:c.1083T>C, NM_001270399.1:c.1083T>C, NM_001270400.2:c.978T>C, NM_001270400.1:c.978T>C

Select item 136810743820.

rs1368107438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:49185403 (GRCh38)
12:49579186 (GRCh37)
Canonical SPDI:: NC_000012.12:49185402:A:C
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49185403A>C, NC_000012.11:g.49579186A>C, NG_008966.1:g.8676T>G, NM_006009.4:c.963T>G, NM_006009.3:c.963T>G, NM_001270399.2:c.963T>G, NM_001270399.1:c.963T>G, NM_001270400.2:c.858T>G, NM_001270400.1:c.858T>G

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