SNP Links for Protein (Select 767994938) - SNP

Links from Protein

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Select item 14876716481.

rs1487671648 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:59886190 (GRCh38)
17:57963551 (GRCh37)
Canonical SPDI:: NC_000017.11:59886189:TTT:TT
Gene:: TUBD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59886192del, NC_000017.10:g.57963553del, NM_016261.4:c.213del, NM_016261.3:c.213del, XM_011524871.4:c.213del, XM_011524871.3:c.213del, XM_011524871.2:c.213del, XM_011524871.1:c.213del, XM_017024716.3:c.213del, XM_017024716.2:c.213del, XM_017024716.1:c.213del, NM_001193612.2:c.-241del, NM_001193612.1:c.-241del, NM_001193609.2:c.213del, NM_001193609.1:c.213del, NM_001193610.2:c.213del, NM_001193610.1:c.213del, NM_001193611.2:c.213del, NM_001193611.1:c.213del, XM_047436200.1:c.213del, XM_047436202.1:c.12del, XM_047436201.1:c.-42del, NP_057345.2:p.Val72fs, XP_011523173.1:p.Val72fs, XP_016880205.1:p.Val72fs, NP_001180538.1:p.Val72fs, NP_001180539.1:p.Val72fs, NP_001180540.1:p.Val72fs, XP_047292156.1:p.Val72fs, XP_047292158.1:p.Val5fs

Select item 14783059722.

rs1478305972 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59880926 (GRCh38)
17:57958287 (GRCh37)
Canonical SPDI:: NC_000017.11:59880925:T:C
Gene:: TUBD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59880926T>C, NC_000017.10:g.57958287T>C, NM_016261.4:c.505A>G, NM_016261.3:c.505A>G, XM_011524871.4:c.505A>G, XM_011524871.3:c.505A>G, XM_011524871.2:c.505A>G, XM_011524871.1:c.505A>G, XM_017024716.3:c.505A>G, XM_017024716.2:c.505A>G, XM_017024716.1:c.505A>G, NM_001193612.2:c.148A>G, NM_001193612.1:c.148A>G, NM_001193609.2:c.505A>G, NM_001193609.1:c.505A>G, NM_001193610.2:c.505A>G, NM_001193610.1:c.505A>G, NM_001193611.2:c.505A>G, NM_001193611.1:c.505A>G, XM_047436200.1:c.505A>G, XM_047436202.1:c.304A>G, NP_057345.2:p.Asn169Asp, XP_011523173.1:p.Asn169Asp, XP_016880205.1:p.Asn169Asp, NP_001180541.1:p.Asn50Asp, NP_001180538.1:p.Asn169Asp, NP_001180539.1:p.Asn169Asp, NP_001180540.1:p.Asn169Asp, XP_047292156.1:p.Asn169Asp, XP_047292158.1:p.Asn102Asp

Select item 14700135843.

rs1470013584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:59878310 (GRCh38)
17:57955671 (GRCh37)
Canonical SPDI:: NC_000017.11:59878309:T:A
Gene:: TUBD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59878310T>A, NC_000017.10:g.57955671T>A, NM_016261.4:c.562A>T, NM_016261.3:c.562A>T, XM_011524871.4:c.562A>T, XM_011524871.3:c.562A>T, XM_011524871.2:c.562A>T, XM_011524871.1:c.562A>T, XM_017024716.3:c.562A>T, XM_017024716.2:c.562A>T, XM_017024716.1:c.562A>T, NM_001193612.2:c.205A>T, NM_001193612.1:c.205A>T, NM_001193609.2:c.562A>T, NM_001193609.1:c.562A>T, NM_001193610.2:c.562A>T, NM_001193610.1:c.562A>T, NM_001193611.2:c.562A>T, NM_001193611.1:c.562A>T, NM_001193613.2:c.-87A>T, NM_001193613.1:c.-87A>T, XM_047436200.1:c.562A>T, XM_047436202.1:c.361A>T, XM_047436201.1:c.91A>T, NP_057345.2:p.Ile188Phe, XP_011523173.1:p.Ile188Phe, XP_016880205.1:p.Ile188Phe, NP_001180541.1:p.Ile69Phe, NP_001180538.1:p.Ile188Phe, NP_001180539.1:p.Ile188Phe, NP_001180540.1:p.Ile188Phe, XP_047292156.1:p.Ile188Phe, XP_047292158.1:p.Ile121Phe, XP_047292157.1:p.Ile31Phe

Select item 14696168384.

rs1469616838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59878222 (GRCh38)
17:57955583 (GRCh37)
Canonical SPDI:: NC_000017.11:59878221:A:G
Gene:: TUBD1 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.59878222A>G, NC_000017.10:g.57955583A>G, NM_016261.4:c.650T>C, NM_016261.3:c.650T>C, XM_011524871.4:c.650T>C, XM_011524871.3:c.650T>C, XM_011524871.2:c.650T>C, XM_011524871.1:c.650T>C, XM_017024716.3:c.650T>C, XM_017024716.2:c.650T>C, XM_017024716.1:c.650T>C, NM_001193612.2:c.293T>C, NM_001193612.1:c.293T>C, NM_001193609.2:c.650T>C, NM_001193609.1:c.650T>C, NM_001193610.2:c.650T>C, NM_001193610.1:c.650T>C, NM_001193611.2:c.650T>C, NM_001193611.1:c.650T>C, NM_001193613.2:c.2T>C, NM_001193613.1:c.2T>C, XM_047436200.1:c.650T>C, XM_047436202.1:c.449T>C, XM_047436201.1:c.179T>C, NP_057345.2:p.Met217Thr, XP_011523173.1:p.Met217Thr, XP_016880205.1:p.Met217Thr, NP_001180541.1:p.Met98Thr, NP_001180538.1:p.Met217Thr, NP_001180539.1:p.Met217Thr, NP_001180540.1:p.Met217Thr, NP_001180542.1:p.Met1Thr, XP_047292156.1:p.Met217Thr, XP_047292158.1:p.Met150Thr, XP_047292157.1:p.Met60Thr

Select item 14691560665.

rs1469156066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:59863820 (GRCh38)
17:57941181 (GRCh37)
Canonical SPDI:: NC_000017.11:59863819:G:A,NC_000017.11:59863819:G:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.59863820G>A, NC_000017.11:g.59863820G>T, NC_000017.10:g.57941181G>A, NC_000017.10:g.57941181G>T, NM_016261.4:c.1103C>T, NM_016261.4:c.1103C>A, NM_016261.3:c.1103C>T, NM_016261.3:c.1103C>A, XM_011524871.4:c.962C>T, XM_011524871.4:c.962C>A, XM_011524871.3:c.962C>T, XM_011524871.3:c.962C>A, XM_011524871.2:c.962C>T, XM_011524871.2:c.962C>A, XM_011524871.1:c.962C>T, XM_011524871.1:c.962C>A, NM_001193612.2:c.581C>T, NM_001193612.2:c.581C>A, NM_001193612.1:c.581C>T, NM_001193612.1:c.581C>A, NM_001193609.2:c.938C>T, NM_001193609.2:c.938C>A, NM_001193609.1:c.938C>T, NM_001193609.1:c.938C>A, NM_001193611.2:c.797C>T, NM_001193611.2:c.797C>A, NM_001193611.1:c.797C>T, NM_001193611.1:c.797C>A, NM_001193613.2:c.455C>T, NM_001193613.2:c.455C>A, NM_001193613.1:c.455C>T, NM_001193613.1:c.455C>A, XM_047436202.1:c.596C>T, XM_047436202.1:c.596C>A, XM_047436201.1:c.632C>T, XM_047436201.1:c.632C>A, NP_057345.2:p.Thr368Ile, NP_057345.2:p.Thr368Asn, XP_011523173.1:p.Thr321Ile, XP_011523173.1:p.Thr321Asn, NP_001180541.1:p.Thr194Ile, NP_001180541.1:p.Thr194Asn, NP_001180538.1:p.Thr313Ile, NP_001180538.1:p.Thr313Asn, NP_001180540.1:p.Thr266Ile, NP_001180540.1:p.Thr266Asn, NP_001180542.1:p.Thr152Ile, NP_001180542.1:p.Thr152Asn, XP_047292158.1:p.Thr199Ile, XP_047292158.1:p.Thr199Asn, XP_047292157.1:p.Thr211Ile, XP_047292157.1:p.Thr211Asn

Select item 14624051996.

rs1462405199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:59874592 (GRCh38)
17:57951953 (GRCh37)
Canonical SPDI:: NC_000017.11:59874591:C:A,NC_000017.11:59874591:C:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.59874592C>A, NC_000017.11:g.59874592C>T, NC_000017.10:g.57951953C>A, NC_000017.10:g.57951953C>T, NM_016261.4:c.881G>T, NM_016261.4:c.881G>A, NM_016261.3:c.881G>T, NM_016261.3:c.881G>A, XM_011524871.4:c.881G>T, XM_011524871.4:c.881G>A, XM_011524871.3:c.881G>T, XM_011524871.3:c.881G>A, XM_011524871.2:c.881G>T, XM_011524871.2:c.881G>A, XM_011524871.1:c.881G>T, XM_011524871.1:c.881G>A, XM_017024716.3:c.881G>T, XM_017024716.3:c.881G>A, XM_017024716.2:c.881G>T, XM_017024716.2:c.881G>A, XM_017024716.1:c.881G>T, XM_017024716.1:c.881G>A, NM_001193610.2:c.881G>T, NM_001193610.2:c.881G>A, NM_001193610.1:c.881G>T, NM_001193610.1:c.881G>A, NM_001193613.2:c.233G>T, NM_001193613.2:c.233G>A, NM_001193613.1:c.233G>T, NM_001193613.1:c.233G>A, XM_047436201.1:c.410G>T, XM_047436201.1:c.410G>A, NP_057345.2:p.Gly294Val, NP_057345.2:p.Gly294Asp, XP_011523173.1:p.Gly294Val, XP_011523173.1:p.Gly294Asp, XP_016880205.1:p.Gly294Val, XP_016880205.1:p.Gly294Asp, NP_001180539.1:p.Gly294Val, NP_001180539.1:p.Gly294Asp, NP_001180542.1:p.Gly78Val, NP_001180542.1:p.Gly78Asp, XP_047292157.1:p.Gly137Val, XP_047292157.1:p.Gly137Asp

Select item 14619758967.

rs1461975896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:59878270 (GRCh38)
17:57955631 (GRCh37)
Canonical SPDI:: NC_000017.11:59878269:A:T
Gene:: TUBD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59878270A>T, NC_000017.10:g.57955631A>T, NM_016261.4:c.602T>A, NM_016261.3:c.602T>A, XM_011524871.4:c.602T>A, XM_011524871.3:c.602T>A, XM_011524871.2:c.602T>A, XM_011524871.1:c.602T>A, XM_017024716.3:c.602T>A, XM_017024716.2:c.602T>A, XM_017024716.1:c.602T>A, NM_001193612.2:c.245T>A, NM_001193612.1:c.245T>A, NM_001193609.2:c.602T>A, NM_001193609.1:c.602T>A, NM_001193610.2:c.602T>A, NM_001193610.1:c.602T>A, NM_001193611.2:c.602T>A, NM_001193611.1:c.602T>A, NM_001193613.2:c.-47T>A, NM_001193613.1:c.-47T>A, XM_047436200.1:c.602T>A, XM_047436202.1:c.401T>A, XM_047436201.1:c.131T>A, NP_057345.2:p.Leu201His, XP_011523173.1:p.Leu201His, XP_016880205.1:p.Leu201His, NP_001180541.1:p.Leu82His, NP_001180538.1:p.Leu201His, NP_001180539.1:p.Leu201His, NP_001180540.1:p.Leu201His, XP_047292156.1:p.Leu201His, XP_047292158.1:p.Leu134His, XP_047292157.1:p.Leu44His

Select item 14619558528.

rs1461955852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59860350 (GRCh38)
17:57937711 (GRCh37)
Canonical SPDI:: NC_000017.11:59860349:T:C
Gene:: TUBD1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59860350T>C, NC_000017.10:g.57937711T>C, NM_016261.4:c.1334A>G, NM_016261.3:c.1334A>G, XM_011524871.4:c.1193A>G, XM_011524871.3:c.1193A>G, XM_011524871.2:c.1193A>G, XM_011524871.1:c.1193A>G, XM_017024716.3:c.*22A>G, XM_017024716.2:c.*22A>G, XM_017024716.1:c.*22A>G, NM_001193612.2:c.812A>G, NM_001193612.1:c.812A>G, NM_001193609.2:c.1169A>G, NM_001193609.1:c.1169A>G, NM_001193610.2:c.1163A>G, NM_001193610.1:c.1163A>G, NM_001193611.2:c.1028A>G, NM_001193611.1:c.1028A>G, NM_001193613.2:c.686A>G, NM_001193613.1:c.686A>G, XM_047436200.1:c.*22A>G, XM_047436202.1:c.827A>G, XM_047436201.1:c.863A>G, NP_057345.2:p.Gln445Arg, XP_011523173.1:p.Gln398Arg, NP_001180541.1:p.Gln271Arg, NP_001180538.1:p.Gln390Arg, NP_001180539.1:p.Gln388Arg, NP_001180540.1:p.Gln343Arg, NP_001180542.1:p.Gln229Arg, XP_047292158.1:p.Gln276Arg, XP_047292157.1:p.Gln288Arg

Select item 14599475809.

rs1459947580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59878247 (GRCh38)
17:57955608 (GRCh37)
Canonical SPDI:: NC_000017.11:59878246:T:C
Gene:: TUBD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.59878247T>C, NC_000017.10:g.57955608T>C, NM_016261.4:c.625A>G, NM_016261.3:c.625A>G, XM_011524871.4:c.625A>G, XM_011524871.3:c.625A>G, XM_011524871.2:c.625A>G, XM_011524871.1:c.625A>G, XM_017024716.3:c.625A>G, XM_017024716.2:c.625A>G, XM_017024716.1:c.625A>G, NM_001193612.2:c.268A>G, NM_001193612.1:c.268A>G, NM_001193609.2:c.625A>G, NM_001193609.1:c.625A>G, NM_001193610.2:c.625A>G, NM_001193610.1:c.625A>G, NM_001193611.2:c.625A>G, NM_001193611.1:c.625A>G, NM_001193613.2:c.-24A>G, NM_001193613.1:c.-24A>G, XM_047436200.1:c.625A>G, XM_047436202.1:c.424A>G, XM_047436201.1:c.154A>G, NP_057345.2:p.Ile209Val, XP_011523173.1:p.Ile209Val, XP_016880205.1:p.Ile209Val, NP_001180541.1:p.Ile90Val, NP_001180538.1:p.Ile209Val, NP_001180539.1:p.Ile209Val, NP_001180540.1:p.Ile209Val, XP_047292156.1:p.Ile209Val, XP_047292158.1:p.Ile142Val, XP_047292157.1:p.Ile52Val

Select item 145762402910.

rs1457624029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:59860328 (GRCh38)
17:57937689 (GRCh37)
Canonical SPDI:: NC_000017.11:59860327:A:T
Gene:: TUBD1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_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_000017.11:g.59860328A>T, NC_000017.10:g.57937689A>T, NM_016261.4:c.1356T>A, NM_016261.3:c.1356T>A, XM_011524871.4:c.1215T>A, XM_011524871.3:c.1215T>A, XM_011524871.2:c.1215T>A, XM_011524871.1:c.1215T>A, XM_017024716.3:c.*44T>A, XM_017024716.2:c.*44T>A, XM_017024716.1:c.*44T>A, NM_001193612.2:c.834T>A, NM_001193612.1:c.834T>A, NM_001193609.2:c.1191T>A, NM_001193609.1:c.1191T>A, NM_001193610.2:c.1185T>A, NM_001193610.1:c.1185T>A, NM_001193611.2:c.1050T>A, NM_001193611.1:c.1050T>A, NM_001193613.2:c.708T>A, NM_001193613.1:c.708T>A, XM_047436200.1:c.*44T>A, XM_047436202.1:c.849T>A, XM_047436201.1:c.885T>A, NP_057345.2:p.Asn452Lys, XP_011523173.1:p.Asn405Lys, NP_001180541.1:p.Asn278Lys, NP_001180538.1:p.Asn397Lys, NP_001180539.1:p.Asn395Lys, NP_001180540.1:p.Asn350Lys, NP_001180542.1:p.Asn236Lys, XP_047292158.1:p.Asn283Lys, XP_047292157.1:p.Asn295Lys

Select item 145620715111.

rs1456207151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59881102 (GRCh38)
17:57958463 (GRCh37)
Canonical SPDI:: NC_000017.11:59881101:A:G
Gene:: TUBD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59881102A>G, NC_000017.10:g.57958463A>G, NM_016261.4:c.329T>C, NM_016261.3:c.329T>C, XM_011524871.4:c.329T>C, XM_011524871.3:c.329T>C, XM_011524871.2:c.329T>C, XM_011524871.1:c.329T>C, XM_017024716.3:c.329T>C, XM_017024716.2:c.329T>C, XM_017024716.1:c.329T>C, NM_001193612.2:c.-29T>C, NM_001193612.1:c.-29T>C, NM_001193609.2:c.329T>C, NM_001193609.1:c.329T>C, NM_001193610.2:c.329T>C, NM_001193610.1:c.329T>C, NM_001193611.2:c.329T>C, NM_001193611.1:c.329T>C, XM_047436200.1:c.329T>C, XM_047436202.1:c.128T>C, NP_057345.2:p.Val110Ala, XP_011523173.1:p.Val110Ala, XP_016880205.1:p.Val110Ala, NP_001180538.1:p.Val110Ala, NP_001180539.1:p.Val110Ala, NP_001180540.1:p.Val110Ala, XP_047292156.1:p.Val110Ala, XP_047292158.1:p.Val43Ala

Select item 145553373012.

rs1455533730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59874703 (GRCh38)
17:57952064 (GRCh37)
Canonical SPDI:: NC_000017.11:59874702:C:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59874703C>T, NC_000017.10:g.57952064C>T, NM_016261.4:c.770G>A, NM_016261.3:c.770G>A, XM_011524871.4:c.770G>A, XM_011524871.3:c.770G>A, XM_011524871.2:c.770G>A, XM_011524871.1:c.770G>A, XM_017024716.3:c.770G>A, XM_017024716.2:c.770G>A, XM_017024716.1:c.770G>A, NM_001193610.2:c.770G>A, NM_001193610.1:c.770G>A, NM_001193613.2:c.122G>A, NM_001193613.1:c.122G>A, XM_047436201.1:c.299G>A, NP_057345.2:p.Gly257Glu, XP_011523173.1:p.Gly257Glu, XP_016880205.1:p.Gly257Glu, NP_001180539.1:p.Gly257Glu, NP_001180542.1:p.Gly41Glu, XP_047292157.1:p.Gly100Glu

Select item 145178880413.

rs1451788804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59878172 (GRCh38)
17:57955533 (GRCh37)
Canonical SPDI:: NC_000017.11:59878171:G:A
Gene:: TUBD1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59878172G>A, NC_000017.10:g.57955533G>A, NM_016261.4:c.700C>T, NM_016261.3:c.700C>T, XM_011524871.4:c.700C>T, XM_011524871.3:c.700C>T, XM_011524871.2:c.700C>T, XM_011524871.1:c.700C>T, XM_017024716.3:c.700C>T, XM_017024716.2:c.700C>T, XM_017024716.1:c.700C>T, NM_001193612.2:c.343C>T, NM_001193612.1:c.343C>T, NM_001193609.2:c.700C>T, NM_001193609.1:c.700C>T, NM_001193610.2:c.700C>T, NM_001193610.1:c.700C>T, NM_001193611.2:c.700C>T, NM_001193611.1:c.700C>T, NM_001193613.2:c.52C>T, NM_001193613.1:c.52C>T, XM_047436200.1:c.700C>T, XM_047436202.1:c.499C>T, XM_047436201.1:c.229C>T, NP_057345.2:p.Gln234Ter, XP_011523173.1:p.Gln234Ter, XP_016880205.1:p.Gln234Ter, NP_001180541.1:p.Gln115Ter, NP_001180538.1:p.Gln234Ter, NP_001180539.1:p.Gln234Ter, NP_001180540.1:p.Gln234Ter, NP_001180542.1:p.Gln18Ter, XP_047292156.1:p.Gln234Ter, XP_047292158.1:p.Gln167Ter, XP_047292157.1:p.Gln77Ter

Select item 145078049414.

rs1450780494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:59880940 (GRCh38)
17:57958301 (GRCh37)
Canonical SPDI:: NC_000017.11:59880939:T:A
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59880940T>A, NC_000017.10:g.57958301T>A, NM_016261.4:c.491A>T, NM_016261.3:c.491A>T, XM_011524871.4:c.491A>T, XM_011524871.3:c.491A>T, XM_011524871.2:c.491A>T, XM_011524871.1:c.491A>T, XM_017024716.3:c.491A>T, XM_017024716.2:c.491A>T, XM_017024716.1:c.491A>T, NM_001193612.2:c.134A>T, NM_001193612.1:c.134A>T, NM_001193609.2:c.491A>T, NM_001193609.1:c.491A>T, NM_001193610.2:c.491A>T, NM_001193610.1:c.491A>T, NM_001193611.2:c.491A>T, NM_001193611.1:c.491A>T, XM_047436200.1:c.491A>T, XM_047436202.1:c.290A>T, NP_057345.2:p.Asn164Ile, XP_011523173.1:p.Asn164Ile, XP_016880205.1:p.Asn164Ile, NP_001180541.1:p.Asn45Ile, NP_001180538.1:p.Asn164Ile, NP_001180539.1:p.Asn164Ile, NP_001180540.1:p.Asn164Ile, XP_047292156.1:p.Asn164Ile, XP_047292158.1:p.Asn97Ile

Select item 145012398715.

rs1450123987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59878287 (GRCh38)
17:57955648 (GRCh37)
Canonical SPDI:: NC_000017.11:59878286:G:C
Gene:: TUBD1 (Varview)
Functional Consequence:: stop_gained,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.59878287G>C, NC_000017.10:g.57955648G>C, NM_016261.4:c.585C>G, NM_016261.3:c.585C>G, XM_011524871.4:c.585C>G, XM_011524871.3:c.585C>G, XM_011524871.2:c.585C>G, XM_011524871.1:c.585C>G, XM_017024716.3:c.585C>G, XM_017024716.2:c.585C>G, XM_017024716.1:c.585C>G, NM_001193612.2:c.228C>G, NM_001193612.1:c.228C>G, NM_001193609.2:c.585C>G, NM_001193609.1:c.585C>G, NM_001193610.2:c.585C>G, NM_001193610.1:c.585C>G, NM_001193611.2:c.585C>G, NM_001193611.1:c.585C>G, NM_001193613.2:c.-64C>G, NM_001193613.1:c.-64C>G, XM_047436200.1:c.585C>G, XM_047436202.1:c.384C>G, XM_047436201.1:c.114C>G, NP_057345.2:p.Tyr195Ter, XP_011523173.1:p.Tyr195Ter, XP_016880205.1:p.Tyr195Ter, NP_001180541.1:p.Tyr76Ter, NP_001180538.1:p.Tyr195Ter, NP_001180539.1:p.Tyr195Ter, NP_001180540.1:p.Tyr195Ter, XP_047292156.1:p.Tyr195Ter, XP_047292158.1:p.Tyr128Ter, XP_047292157.1:p.Tyr38Ter

Select item 144974176816.

rs1449741768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:59863841 (GRCh38)
17:57941202 (GRCh37)
Canonical SPDI:: NC_000017.11:59863840:A:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.59863841A>T, NC_000017.10:g.57941202A>T, NM_016261.4:c.1082T>A, NM_016261.3:c.1082T>A, XM_011524871.4:c.941T>A, XM_011524871.3:c.941T>A, XM_011524871.2:c.941T>A, XM_011524871.1:c.941T>A, NM_001193612.2:c.560T>A, NM_001193612.1:c.560T>A, NM_001193609.2:c.917T>A, NM_001193609.1:c.917T>A, NM_001193611.2:c.776T>A, NM_001193611.1:c.776T>A, NM_001193613.2:c.434T>A, NM_001193613.1:c.434T>A, XM_047436202.1:c.575T>A, XM_047436201.1:c.611T>A, NP_057345.2:p.Phe361Tyr, XP_011523173.1:p.Phe314Tyr, NP_001180541.1:p.Phe187Tyr, NP_001180538.1:p.Phe306Tyr, NP_001180540.1:p.Phe259Tyr, NP_001180542.1:p.Phe145Tyr, XP_047292158.1:p.Phe192Tyr, XP_047292157.1:p.Phe204Tyr

Select item 144968963417.

rs1449689634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59860347 (GRCh38)
17:57937708 (GRCh37)
Canonical SPDI:: NC_000017.11:59860346:A:G
Gene:: TUBD1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_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)
HGVS:: NC_000017.11:g.59860347A>G, NC_000017.10:g.57937708A>G, NM_016261.4:c.1337T>C, NM_016261.3:c.1337T>C, XM_011524871.4:c.1196T>C, XM_011524871.3:c.1196T>C, XM_011524871.2:c.1196T>C, XM_011524871.1:c.1196T>C, XM_017024716.3:c.*25T>C, XM_017024716.2:c.*25T>C, XM_017024716.1:c.*25T>C, NM_001193612.2:c.815T>C, NM_001193612.1:c.815T>C, NM_001193609.2:c.1172T>C, NM_001193609.1:c.1172T>C, NM_001193610.2:c.1166T>C, NM_001193610.1:c.1166T>C, NM_001193611.2:c.1031T>C, NM_001193611.1:c.1031T>C, NM_001193613.2:c.689T>C, NM_001193613.1:c.689T>C, XM_047436200.1:c.*25T>C, XM_047436202.1:c.830T>C, XM_047436201.1:c.866T>C, NP_057345.2:p.Val446Ala, XP_011523173.1:p.Val399Ala, NP_001180541.1:p.Val272Ala, NP_001180538.1:p.Val391Ala, NP_001180539.1:p.Val389Ala, NP_001180540.1:p.Val344Ala, NP_001180542.1:p.Val230Ala, XP_047292158.1:p.Val277Ala, XP_047292157.1:p.Val289Ala

Select item 144795422418.

rs1447954224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:59890905 (GRCh38)
17:57968266 (GRCh37)
Canonical SPDI:: NC_000017.11:59890904:A:C
Gene:: TUBD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59890905A>C, NC_000017.10:g.57968266A>C, NG_029513.1:g.2824A>C, NM_016261.4:c.98T>G, NM_016261.3:c.98T>G, XM_011524871.4:c.98T>G, XM_011524871.3:c.98T>G, XM_011524871.2:c.98T>G, XM_011524871.1:c.98T>G, XM_017024716.3:c.98T>G, XM_017024716.2:c.98T>G, XM_017024716.1:c.98T>G, NM_001193612.2:c.-356T>G, NM_001193612.1:c.-356T>G, NM_001193609.2:c.98T>G, NM_001193609.1:c.98T>G, NM_001193610.2:c.98T>G, NM_001193610.1:c.98T>G, NM_001193611.2:c.98T>G, NM_001193611.1:c.98T>G, XM_047436200.1:c.98T>G, NP_057345.2:p.Leu33Arg, XP_011523173.1:p.Leu33Arg, XP_016880205.1:p.Leu33Arg, NP_001180538.1:p.Leu33Arg, NP_001180539.1:p.Leu33Arg, NP_001180540.1:p.Leu33Arg, XP_047292156.1:p.Leu33Arg

Select item 144673176719.

rs1446731767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59878330 (GRCh38)
17:57955691 (GRCh37)
Canonical SPDI:: NC_000017.11:59878329:A:G
Gene:: TUBD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59878330A>G, NC_000017.10:g.57955691A>G, NM_016261.4:c.542T>C, NM_016261.3:c.542T>C, XM_011524871.4:c.542T>C, XM_011524871.3:c.542T>C, XM_011524871.2:c.542T>C, XM_011524871.1:c.542T>C, XM_017024716.3:c.542T>C, XM_017024716.2:c.542T>C, XM_017024716.1:c.542T>C, NM_001193612.2:c.185T>C, NM_001193612.1:c.185T>C, NM_001193609.2:c.542T>C, NM_001193609.1:c.542T>C, NM_001193610.2:c.542T>C, NM_001193610.1:c.542T>C, NM_001193611.2:c.542T>C, NM_001193611.1:c.542T>C, NM_001193613.2:c.-107T>C, NM_001193613.1:c.-107T>C, XM_047436200.1:c.542T>C, XM_047436202.1:c.341T>C, XM_047436201.1:c.71T>C, NP_057345.2:p.Ile181Thr, XP_011523173.1:p.Ile181Thr, XP_016880205.1:p.Ile181Thr, NP_001180541.1:p.Ile62Thr, NP_001180538.1:p.Ile181Thr, NP_001180539.1:p.Ile181Thr, NP_001180540.1:p.Ile181Thr, XP_047292156.1:p.Ile181Thr, XP_047292158.1:p.Ile114Thr, XP_047292157.1:p.Ile24Thr

Select item 144619295820.

rs1446192958 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:59860327 (GRCh38)
17:57937688 (GRCh37)
Canonical SPDI:: NC_000017.11:59860323:AGAGA:AGA
Gene:: TUBD1 (Varview)
Functional Consequence:: frameshift_variant,3_prime_UTR_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000012/3 (GnomAD_exomes)
-=0.000022/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.59860325GA[1], NC_000017.10:g.57937686GA[1], NM_016261.4:c.1359_1360del, NM_016261.3:c.1359_1360del, XM_011524871.4:c.1218_1219del, XM_011524871.3:c.1218_1219del, XM_011524871.2:c.1218_1219del, XM_011524871.1:c.1218_1219del, XM_017024716.3:c.*45CT[1], XM_017024716.2:c.*45CT[1], XM_017024716.1:c.*45CT[1], NM_001193612.2:c.837_838del, NM_001193612.1:c.837_838del, NM_001193609.2:c.1194_1195del, NM_001193609.1:c.1194_1195del, NM_001193610.2:c.1188_1189del, NM_001193610.1:c.1188_1189del, NM_001193611.2:c.1053_1054del, NM_001193611.1:c.1053_1054del, NM_001193613.2:c.711_712del, NM_001193613.1:c.711_712del, XM_047436200.1:c.*45CT[1], XM_047436202.1:c.852_853del, XM_047436201.1:c.888_889del, NP_057345.2:p.Ter454IleextTer?, XP_011523173.1:p.Ter407IleextTer?, NP_001180541.1:p.Ter280IleextTer?, NP_001180538.1:p.Ter399IleextTer?, NP_001180539.1:p.Ter397IleextTer?, NP_001180540.1:p.Ter352IleextTer?, NP_001180542.1:p.Ter238IleextTer?, XP_047292158.1:p.Ter285IleextTer?, XP_047292157.1:p.Ter297IleextTer?

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