SNP Links for Protein (Select 9507215) - SNP

Links from Protein

Items: 1 to 20 of 461

<< First< Prev

Page of 24

Next >Last >>

Select item 14902417601.

rs1490241760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18131068 (GRCh38)
22:18613835 (GRCh37)
Canonical SPDI:: NC_000022.11:18131067:C:T
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.18131068C>T, NC_000022.10:g.18613835C>T, NG_023429.2:g.25261C>T, NG_023429.1:g.25383C>T, NM_018943.3:c.1282C>T, NM_018943.2:c.1282C>T, NM_001193414.2:c.1084C>T, NM_001193414.1:c.1084C>T

Select item 14855440392.

rs1485544039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:18126886 (GRCh38)
22:18609653 (GRCh37)
Canonical SPDI:: NC_000022.11:18126885:T:C
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.18126886T>C, NC_000022.10:g.18609653T>C, NG_023429.2:g.21079T>C, NG_023429.1:g.21201T>C, NM_018943.3:c.908T>C, NM_018943.2:c.908T>C, NM_001193414.2:c.710T>C, NM_001193414.1:c.710T>C, NP_061816.1:p.Val303Ala, NP_001180343.1:p.Val237Ala

Select item 14839612863.

rs1483961286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18126645 (GRCh38)
22:18609412 (GRCh37)
Canonical SPDI:: NC_000022.11:18126644:A:G
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.18126645A>G, NC_000022.10:g.18609412A>G, NG_023429.2:g.20838A>G, NG_023429.1:g.20960A>G, NM_018943.3:c.667A>G, NM_018943.2:c.667A>G, NM_001193414.2:c.469A>G, NM_001193414.1:c.469A>G, NP_061816.1:p.Thr223Ala, NP_001180343.1:p.Thr157Ala

Select item 14839434854.

rs1483943485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18131089 (GRCh38)
22:18613856 (GRCh37)
Canonical SPDI:: NC_000022.11:18131088:G:A
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18131089G>A, NC_000022.10:g.18613856G>A, NG_023429.2:g.25282G>A, NG_023429.1:g.25404G>A, NM_018943.3:c.1303G>A, NM_018943.2:c.1303G>A, NM_001193414.2:c.1105G>A, NM_001193414.1:c.1105G>A, NP_061816.1:p.Val435Met, NP_001180343.1:p.Val369Met

Select item 14819769015.

rs1481976901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18126760 (GRCh38)
22:18609527 (GRCh37)
Canonical SPDI:: NC_000022.11:18126759:C:T
Gene:: TUBA8 (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=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18126760C>T, NC_000022.10:g.18609527C>T, NG_023429.2:g.20953C>T, NG_023429.1:g.21075C>T, NM_018943.3:c.782C>T, NM_018943.2:c.782C>T, NM_001193414.2:c.584C>T, NM_001193414.1:c.584C>T, NP_061816.1:p.Pro261Leu, NP_001180343.1:p.Pro195Leu

Select item 14795472706.

rs1479547270 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAC [Show Flanks]
Chromosome:: 22:18126750 (GRCh38)
22:18609518 (GRCh37)
Canonical SPDI:: NC_000022.11:18126750:AC:ACTAC
Gene:: TUBA8 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: ACTAC=0./0 (ALFA)
ACT=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.18126752_18126753insTAC, NC_000022.10:g.18609519_18609520insTAC, NG_023429.2:g.20945_20946insTAC, NG_023429.1:g.21067_21068insTAC, NM_018943.3:c.774_775insTAC, NM_018943.2:c.774_775insTAC, NM_001193414.2:c.576_577insTAC, NM_001193414.1:c.576_577insTAC, NP_061816.1:p.Leu259_Val260insTyr, NP_001180343.1:p.Leu193_Val194insTyr

Select item 14754352827.

rs1475435282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:18124175 (GRCh38)
22:18606942 (GRCh37)
Canonical SPDI:: NC_000022.11:18124174:C:A,NC_000022.11:18124174:C:T
Gene:: TUBA8 (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)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.18124175C>A, NC_000022.11:g.18124175C>T, NC_000022.10:g.18606942C>A, NC_000022.10:g.18606942C>T, NG_023429.2:g.18368C>A, NG_023429.2:g.18368C>T, NG_023429.1:g.18490C>A, NG_023429.1:g.18490C>T, NM_018943.3:c.246C>A, NM_018943.3:c.246C>T, NM_018943.2:c.246C>A, NM_018943.2:c.246C>T, NM_001193414.2:c.48C>A, NM_001193414.2:c.48C>T, NM_001193414.1:c.48C>A, NM_001193414.1:c.48C>T

Select item 14712300428.

rs1471230042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18121487 (GRCh38)
22:18604254 (GRCh37)
Canonical SPDI:: NC_000022.11:18121486:C:T
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.18121487C>T, NC_000022.10:g.18604254C>T, NG_023429.2:g.15680C>T, NG_023429.1:g.15802C>T, NM_018943.3:c.12C>T, NM_018943.2:c.12C>T, NM_001193414.2:c.-187C>T, NM_001193414.1:c.-187C>T

Select item 14710191499.

rs1471019149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:18126687 (GRCh38)
22:18609454 (GRCh37)
Canonical SPDI:: NC_000022.11:18126686:T:C
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
C=0.00006/1 (TOMMO)
HGVS:: NC_000022.11:g.18126687T>C, NC_000022.10:g.18609454T>C, NG_023429.2:g.20880T>C, NG_023429.1:g.21002T>C, NM_018943.3:c.709T>C, NM_018943.2:c.709T>C, NM_001193414.2:c.511T>C, NM_001193414.1:c.511T>C, NP_061816.1:p.Ser237Pro, NP_001180343.1:p.Ser171Pro

Select item 146625530510.

rs1466255305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:18130932 (GRCh38)
22:18613699 (GRCh37)
Canonical SPDI:: NC_000022.11:18130931:G:A,NC_000022.11:18130931:G:C
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000048/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18130932G>A, NC_000022.11:g.18130932G>C, NC_000022.10:g.18613699G>A, NC_000022.10:g.18613699G>C, NG_023429.2:g.25125G>A, NG_023429.2:g.25125G>C, NG_023429.1:g.25247G>A, NG_023429.1:g.25247G>C, NM_018943.3:c.1146G>A, NM_018943.3:c.1146G>C, NM_018943.2:c.1146G>A, NM_018943.2:c.1146G>C, NM_001193414.2:c.948G>A, NM_001193414.2:c.948G>C, NM_001193414.1:c.948G>A, NM_001193414.1:c.948G>C

Select item 146363696311.

rs1463636963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18126358 (GRCh38)
22:18609125 (GRCh37)
Canonical SPDI:: NC_000022.11:18126357:A:G
Gene:: TUBA8 (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=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.18126358A>G, NC_000022.10:g.18609125A>G, NG_023429.2:g.20551A>G, NG_023429.1:g.20673A>G, NM_018943.3:c.380A>G, NM_018943.2:c.380A>G, NM_001193414.2:c.182A>G, NM_001193414.1:c.182A>G, NP_061816.1:p.Asp127Gly, NP_001180343.1:p.Asp61Gly

Select item 146223064612.

rs1462230646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18124304 (GRCh38)
22:18607071 (GRCh37)
Canonical SPDI:: NC_000022.11:18124303:G:A
Gene:: TUBA8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18124304G>A, NC_000022.10:g.18607071G>A, NG_023429.2:g.18497G>A, NG_023429.1:g.18619G>A, NM_018943.3:c.375G>A, NM_018943.2:c.375G>A, NM_001193414.2:c.177G>A, NM_001193414.1:c.177G>A

Select item 145830666013.

rs1458306660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18130951 (GRCh38)
22:18613718 (GRCh37)
Canonical SPDI:: NC_000022.11:18130950:G:A
Gene:: TUBA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18130951G>A, NC_000022.10:g.18613718G>A, NG_023429.2:g.25144G>A, NG_023429.1:g.25266G>A, NM_018943.3:c.1165G>A, NM_018943.2:c.1165G>A, NM_001193414.2:c.967G>A, NM_001193414.1:c.967G>A, NP_061816.1:p.Ala389Thr, NP_001180343.1:p.Ala323Thr

Select item 145673171914.

rs1456731719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18126925 (GRCh38)
22:18609692 (GRCh37)
Canonical SPDI:: NC_000022.11:18126924:G:A
Gene:: TUBA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.18126925G>A, NC_000022.10:g.18609692G>A, NG_023429.2:g.21118G>A, NG_023429.1:g.21240G>A, NM_018943.3:c.947G>A, NM_018943.2:c.947G>A, NM_001193414.2:c.749G>A, NM_001193414.1:c.749G>A, NP_061816.1:p.Cys316Tyr, NP_001180343.1:p.Cys250Tyr

Select item 145163320815.

rs1451633208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18126876 (GRCh38)
22:18609643 (GRCh37)
Canonical SPDI:: NC_000022.11:18126875:A:G
Gene:: TUBA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.18126876A>G, NC_000022.10:g.18609643A>G, NG_023429.2:g.21069A>G, NG_023429.1:g.21191A>G, NM_018943.3:c.898A>G, NM_018943.2:c.898A>G, NM_001193414.2:c.700A>G, NM_001193414.1:c.700A>G, NP_061816.1:p.Ser300Gly, NP_001180343.1:p.Ser234Gly

Select item 145067050316.

rs1450670503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 22:18126841 (GRCh38)
22:18609608 (GRCh37)
Canonical SPDI:: NC_000022.11:18126840:T:A,NC_000022.11:18126840:T:C,NC_000022.11:18126840:T:G
Gene:: TUBA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18126841T>A, NC_000022.11:g.18126841T>C, NC_000022.11:g.18126841T>G, NC_000022.10:g.18609608T>A, NC_000022.10:g.18609608T>C, NC_000022.10:g.18609608T>G, NG_023429.2:g.21034T>A, NG_023429.2:g.21034T>C, NG_023429.2:g.21034T>G, NG_023429.1:g.21156T>A, NG_023429.1:g.21156T>C, NG_023429.1:g.21156T>G, NM_018943.3:c.863T>A, NM_018943.3:c.863T>C, NM_018943.3:c.863T>G, NM_018943.2:c.863T>A, NM_018943.2:c.863T>C, NM_018943.2:c.863T>G, NM_001193414.2:c.665T>A, NM_001193414.2:c.665T>C, NM_001193414.2:c.665T>G, NM_001193414.1:c.665T>A, NM_001193414.1:c.665T>C, NM_001193414.1:c.665T>G, NP_061816.1:p.Val288Glu, NP_061816.1:p.Val288Ala, NP_061816.1:p.Val288Gly, NP_001180343.1:p.Val222Glu, NP_001180343.1:p.Val222Ala, NP_001180343.1:p.Val222Gly

Select item 144815143217.

rs1448151432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18124264 (GRCh38)
22:18607031 (GRCh37)
Canonical SPDI:: NC_000022.11:18124263:A:G
Gene:: TUBA8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.18124264A>G, NC_000022.10:g.18607031A>G, NG_023429.2:g.18457A>G, NG_023429.1:g.18579A>G, NM_018943.3:c.335A>G, NM_018943.2:c.335A>G, NM_001193414.2:c.137A>G, NM_001193414.1:c.137A>G, NP_061816.1:p.Lys112Arg, NP_001180343.1:p.Lys46Arg

Select item 144570039518.

rs1445700395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18121623 (GRCh38)
22:18604390 (GRCh37)
Canonical SPDI:: NC_000022.11:18121622:A:G
Gene:: TUBA8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18121623A>G, NC_000022.10:g.18604390A>G, NG_023429.2:g.15816A>G, NG_023429.1:g.15938A>G, NM_018943.3:c.148A>G, NM_018943.2:c.148A>G, NM_001193414.2:c.-51A>G, NM_001193414.1:c.-51A>G, NP_061816.1:p.Thr50Ala

Select item 144217449019.

rs1442174490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18121566 (GRCh38)
22:18604333 (GRCh37)
Canonical SPDI:: NC_000022.11:18121565:C:T
Gene:: TUBA8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.18121566C>T, NC_000022.10:g.18604333C>T, NG_023429.2:g.15759C>T, NG_023429.1:g.15881C>T, NM_018943.3:c.91C>T, NM_018943.2:c.91C>T, NM_001193414.2:c.-108C>T, NM_001193414.1:c.-108C>T, NP_061816.1:p.Gln31Ter

Select item 144195794420.

rs1441957944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:18126678 (GRCh38)
22:18609446 (GRCh37)
Canonical SPDI:: NC_000022.11:18126678:TT:TTT
Gene:: TUBA8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18126680dup, NC_000022.10:g.18609447dup, NG_023429.2:g.20873dup, NG_023429.1:g.20995dup, NM_018943.3:c.702dup, NM_018943.2:c.702dup, NM_001193414.2:c.504dup, NM_001193414.1:c.504dup, NP_061816.1:p.Val235fs, NP_001180343.1:p.Val169fs

<< First< Prev

Page of 24

Next >Last >>

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 461

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity