SNP Links for Protein (Select 14149767) - SNP

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Links from Protein

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Select item 14906675181.

rs1490667518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:30208707 (GRCh38)
13:30782845 (GRCh37)
Canonical SPDI:: NC_000013.11:30208707:A:AA
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.30208708dup, NC_000013.10:g.30782845dup, NM_032116.5:c.1305dup, NM_032116.4:c.1305dup, XM_005266574.4:c.1305dup, XM_005266574.3:c.1305dup, XM_005266574.2:c.1305dup, XM_005266574.1:c.1305dup, NM_001014380.3:c.1305dup, NM_001014380.2:c.1305dup, XM_017020793.3:c.801dup, XM_017020793.2:c.801dup, XM_017020793.1:c.801dup, XM_024449423.2:c.1305dup, XM_024449423.1:c.1305dup, XM_024449424.2:c.1305dup, XM_024449424.1:c.1305dup, XM_047430703.1:c.1305dup, XM_047430704.1:c.801dup, NP_115492.1:p.Ile436fs, XP_005266631.1:p.Ile436fs, NP_001014402.1:p.Ile436fs, XP_016876282.1:p.Ile268fs, XP_024305191.1:p.Ile436fs, XP_024305192.1:p.Ile436fs, XP_047286659.1:p.Ile436fs, XP_047286660.1:p.Ile268fs

Select item 14892568882.

rs1489256888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:30227419 (GRCh38)
13:30801556 (GRCh37)
Canonical SPDI:: NC_000013.11:30227418:G:A
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30227419G>A, NC_000013.10:g.30801556G>A, NM_032116.5:c.1140C>T, NM_032116.4:c.1140C>T, XM_005266574.4:c.1140C>T, XM_005266574.3:c.1140C>T, XM_005266574.2:c.1140C>T, XM_005266574.1:c.1140C>T, NM_001014380.3:c.1140C>T, NM_001014380.2:c.1140C>T, XM_017020793.3:c.636C>T, XM_017020793.2:c.636C>T, XM_017020793.1:c.636C>T, XM_024449423.2:c.1140C>T, XM_024449423.1:c.1140C>T, XM_024449424.2:c.1140C>T, XM_024449424.1:c.1140C>T, XM_047430703.1:c.1140C>T, XM_047430704.1:c.636C>T

Select item 14888733533.

rs1488873353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:30231336 (GRCh38)
13:30805473 (GRCh37)
Canonical SPDI:: NC_000013.11:30231335:A:G
Gene:: KATNAL1 (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_000013.11:g.30231336A>G, NC_000013.10:g.30805473A>G, NM_032116.5:c.863T>C, NM_032116.4:c.863T>C, XM_005266574.4:c.863T>C, XM_005266574.3:c.863T>C, XM_005266574.2:c.863T>C, XM_005266574.1:c.863T>C, NM_001014380.3:c.863T>C, NM_001014380.2:c.863T>C, XM_017020793.3:c.359T>C, XM_017020793.2:c.359T>C, XM_017020793.1:c.359T>C, XM_024449423.2:c.863T>C, XM_024449423.1:c.863T>C, XM_024449424.2:c.863T>C, XM_024449424.1:c.863T>C, XM_047430703.1:c.863T>C, XM_047430704.1:c.359T>C, NP_115492.1:p.Leu288Ser, XP_005266631.1:p.Leu288Ser, NP_001014402.1:p.Leu288Ser, XP_016876282.1:p.Leu120Ser, XP_024305191.1:p.Leu288Ser, XP_024305192.1:p.Leu288Ser, XP_047286659.1:p.Leu288Ser, XP_047286660.1:p.Leu120Ser

Select item 14881645824.

rs1488164582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:30208650 (GRCh38)
13:30782787 (GRCh37)
Canonical SPDI:: NC_000013.11:30208649:G:A
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30208650G>A, NC_000013.10:g.30782787G>A, NM_032116.5:c.1363C>T, NM_032116.4:c.1363C>T, XM_005266574.4:c.1363C>T, XM_005266574.3:c.1363C>T, XM_005266574.2:c.1363C>T, XM_005266574.1:c.1363C>T, NM_001014380.3:c.1363C>T, NM_001014380.2:c.1363C>T, XM_017020793.3:c.859C>T, XM_017020793.2:c.859C>T, XM_017020793.1:c.859C>T, XM_024449423.2:c.1363C>T, XM_024449423.1:c.1363C>T, XM_024449424.2:c.1363C>T, XM_024449424.1:c.1363C>T, XM_047430703.1:c.1363C>T, XM_047430704.1:c.859C>T, NP_115492.1:p.Pro455Ser, XP_005266631.1:p.Pro455Ser, NP_001014402.1:p.Pro455Ser, XP_016876282.1:p.Pro287Ser, XP_024305191.1:p.Pro455Ser, XP_024305192.1:p.Pro455Ser, XP_047286659.1:p.Pro455Ser, XP_047286660.1:p.Pro287Ser

Select item 14866784215.

rs1486678421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:30280217 (GRCh38)
13:30854354 (GRCh37)
Canonical SPDI:: NC_000013.11:30280216:G:C
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000225/2 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30280217G>C, NC_000013.10:g.30854354G>C, NM_032116.5:c.169C>G, NM_032116.4:c.169C>G, XM_005266574.4:c.169C>G, XM_005266574.3:c.169C>G, XM_005266574.2:c.169C>G, XM_005266574.1:c.169C>G, NM_001014380.3:c.169C>G, NM_001014380.2:c.169C>G, XM_024449423.2:c.169C>G, XM_024449423.1:c.169C>G, XM_024449424.2:c.169C>G, XM_024449424.1:c.169C>G, XM_047430703.1:c.169C>G, NP_115492.1:p.Gln57Glu, XP_005266631.1:p.Gln57Glu, NP_001014402.1:p.Gln57Glu, XP_024305191.1:p.Gln57Glu, XP_024305192.1:p.Gln57Glu, XP_047286659.1:p.Gln57Glu

Select item 14843591316.

rs1484359131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:30283745 (GRCh38)
13:30857882 (GRCh37)
Canonical SPDI:: NC_000013.11:30283744:C:T
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30283745C>T, NC_000013.10:g.30857882C>T, NM_032116.5:c.33G>A, NM_032116.4:c.33G>A, XM_005266574.4:c.33G>A, XM_005266574.3:c.33G>A, XM_005266574.2:c.33G>A, XM_005266574.1:c.33G>A, NM_001014380.3:c.33G>A, NM_001014380.2:c.33G>A, XM_024449423.2:c.33G>A, XM_024449423.1:c.33G>A, XM_024449424.2:c.33G>A, XM_024449424.1:c.33G>A, XM_047430703.1:c.33G>A

Select item 14810340487.

rs1481034048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:30283641 (GRCh38)
13:30857778 (GRCh37)
Canonical SPDI:: NC_000013.11:30283640:G:C
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.30283641G>C, NC_000013.10:g.30857778G>C, NM_032116.5:c.137C>G, NM_032116.4:c.137C>G, XM_005266574.4:c.137C>G, XM_005266574.3:c.137C>G, XM_005266574.2:c.137C>G, XM_005266574.1:c.137C>G, NM_001014380.3:c.137C>G, NM_001014380.2:c.137C>G, XM_024449423.2:c.137C>G, XM_024449423.1:c.137C>G, XM_024449424.2:c.137C>G, XM_024449424.1:c.137C>G, XM_047430703.1:c.137C>G, NP_115492.1:p.Pro46Arg, XP_005266631.1:p.Pro46Arg, NP_001014402.1:p.Pro46Arg, XP_024305191.1:p.Pro46Arg, XP_024305192.1:p.Pro46Arg, XP_047286659.1:p.Pro46Arg

Select item 14777596018.

rs1477759601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:30230546 (GRCh38)
13:30804683 (GRCh37)
Canonical SPDI:: NC_000013.11:30230545:T:C
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30230546T>C, NC_000013.10:g.30804683T>C, NM_032116.5:c.934A>G, NM_032116.4:c.934A>G, XM_005266574.4:c.934A>G, XM_005266574.3:c.934A>G, XM_005266574.2:c.934A>G, XM_005266574.1:c.934A>G, NM_001014380.3:c.934A>G, NM_001014380.2:c.934A>G, XM_017020793.3:c.430A>G, XM_017020793.2:c.430A>G, XM_017020793.1:c.430A>G, XM_024449423.2:c.934A>G, XM_024449423.1:c.934A>G, XM_024449424.2:c.934A>G, XM_024449424.1:c.934A>G, XM_047430703.1:c.934A>G, XM_047430704.1:c.430A>G, NP_115492.1:p.Ile312Val, XP_005266631.1:p.Ile312Val, NP_001014402.1:p.Ile312Val, XP_016876282.1:p.Ile144Val, XP_024305191.1:p.Ile312Val, XP_024305192.1:p.Ile312Val, XP_047286659.1:p.Ile312Val, XP_047286660.1:p.Ile144Val

Select item 14764465419.

rs1476446541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:30280125 (GRCh38)
13:30854262 (GRCh37)
Canonical SPDI:: NC_000013.11:30280124:G:C
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.30280125G>C, NC_000013.10:g.30854262G>C, NM_032116.5:c.261C>G, NM_032116.4:c.261C>G, XM_005266574.4:c.261C>G, XM_005266574.3:c.261C>G, XM_005266574.2:c.261C>G, XM_005266574.1:c.261C>G, NM_001014380.3:c.261C>G, NM_001014380.2:c.261C>G, XM_024449423.2:c.261C>G, XM_024449423.1:c.261C>G, XM_024449424.2:c.261C>G, XM_024449424.1:c.261C>G, XM_047430703.1:c.261C>G, XM_047430704.1:c.-75C>G

Select item 147415013810.

rs1474150138 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>- [Show Flanks]
Chromosome:: 13:30280097 (GRCh38)
13:30854234 (GRCh37)
Canonical SPDI:: NC_000013.11:30280093:CAGCAG:CAG
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CAGCAG=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30280094CAG[1], NC_000013.10:g.30854231CAG[1], NM_032116.5:c.287CTG[1], NM_032116.4:c.287CTG[1], XM_005266574.4:c.287CTG[1], XM_005266574.3:c.287CTG[1], XM_005266574.2:c.287CTG[1], XM_005266574.1:c.287CTG[1], NM_001014380.3:c.287CTG[1], NM_001014380.2:c.287CTG[1], XM_024449423.2:c.287CTG[1], XM_024449423.1:c.287CTG[1], XM_024449424.2:c.287CTG[1], XM_024449424.1:c.287CTG[1], XM_047430703.1:c.287CTG[1], XM_047430704.1:c.-49CTG[1], NP_115492.1:p.Ala97del, XP_005266631.1:p.Ala97del, NP_001014402.1:p.Ala97del, XP_024305191.1:p.Ala97del, XP_024305192.1:p.Ala97del, XP_047286659.1:p.Ala97del

Select item 147255199811.

rs1472551998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:30210390 (GRCh38)
13:30784527 (GRCh37)
Canonical SPDI:: NC_000013.11:30210389:A:G
Gene:: KATNAL1 (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)
HGVS:: NC_000013.11:g.30210390A>G, NC_000013.10:g.30784527A>G, NM_032116.5:c.1200T>C, NM_032116.4:c.1200T>C, XM_005266574.4:c.1200T>C, XM_005266574.3:c.1200T>C, XM_005266574.2:c.1200T>C, XM_005266574.1:c.1200T>C, NM_001014380.3:c.1200T>C, NM_001014380.2:c.1200T>C, XM_017020793.3:c.696T>C, XM_017020793.2:c.696T>C, XM_017020793.1:c.696T>C, XM_024449423.2:c.1200T>C, XM_024449423.1:c.1200T>C, XM_024449424.2:c.1200T>C, XM_024449424.1:c.1200T>C, XM_047430703.1:c.1200T>C, XM_047430704.1:c.696T>C

Select item 147136865612.

rs1471368656 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCTTTATTCCATT [Show Flanks]
Chromosome:: 13:30227533 (GRCh38)
13:30801671 (GRCh37)
Canonical SPDI:: NC_000013.11:30227533::TCTTTATTCCATT
Gene:: KATNAL1 (Varview)
Functional Consequence:: stop_gained,inframe_insertion,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000013.11:g.30227533_30227534insTCTTTATTCCATT, NC_000013.10:g.30801670_30801671insTCTTTATTCCATT, NM_032116.5:c.1025_1026insAATGGAATAAAGA, NM_032116.4:c.1025_1026insAATGGAATAAAGA, XM_005266574.4:c.1025_1026insAATGGAATAAAGA, XM_005266574.3:c.1025_1026insAATGGAATAAAGA, XM_005266574.2:c.1025_1026insAATGGAATAAAGA, XM_005266574.1:c.1025_1026insAATGGAATAAAGA, NM_001014380.3:c.1025_1026insAATGGAATAAAGA, NM_001014380.2:c.1025_1026insAATGGAATAAAGA, XM_017020793.3:c.521_522insAATGGAATAAAGA, XM_017020793.2:c.521_522insAATGGAATAAAGA, XM_017020793.1:c.521_522insAATGGAATAAAGA, XM_024449423.2:c.1025_1026insAATGGAATAAAGA, XM_024449423.1:c.1025_1026insAATGGAATAAAGA, XM_024449424.2:c.1025_1026insAATGGAATAAAGA, XM_024449424.1:c.1025_1026insAATGGAATAAAGA, XM_047430703.1:c.1025_1026insAATGGAATAAAGA, XM_047430704.1:c.521_522insAATGGAATAAAGA, NP_115492.1:p.Leu343_Glu344insMetGluTer, XP_005266631.1:p.Leu343_Glu344insMetGluTer, NP_001014402.1:p.Leu343_Glu344insMetGluTer, XP_016876282.1:p.Leu175_Glu176insMetGluTer, XP_024305191.1:p.Leu343_Glu344insMetGluTer, XP_024305192.1:p.Leu343_Glu344insMetGluTer, XP_047286659.1:p.Leu343_Glu344insMetGluTer, XP_047286660.1:p.Leu175_Glu176insMetGluTer

Select item 146781230813.

rs1467812308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:30208675 (GRCh38)
13:30782812 (GRCh37)
Canonical SPDI:: NC_000013.11:30208674:T:G
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30208675T>G, NC_000013.10:g.30782812T>G, NM_032116.5:c.1338A>C, NM_032116.4:c.1338A>C, XM_005266574.4:c.1338A>C, XM_005266574.3:c.1338A>C, XM_005266574.2:c.1338A>C, XM_005266574.1:c.1338A>C, NM_001014380.3:c.1338A>C, NM_001014380.2:c.1338A>C, XM_017020793.3:c.834A>C, XM_017020793.2:c.834A>C, XM_017020793.1:c.834A>C, XM_024449423.2:c.1338A>C, XM_024449423.1:c.1338A>C, XM_024449424.2:c.1338A>C, XM_024449424.1:c.1338A>C, XM_047430703.1:c.1338A>C, XM_047430704.1:c.834A>C

Select item 146187958014.

rs1461879580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:30230526 (GRCh38)
13:30804663 (GRCh37)
Canonical SPDI:: NC_000013.11:30230525:G:C
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.30230526G>C, NC_000013.10:g.30804663G>C, NM_032116.5:c.954C>G, NM_032116.4:c.954C>G, XM_005266574.4:c.954C>G, XM_005266574.3:c.954C>G, XM_005266574.2:c.954C>G, XM_005266574.1:c.954C>G, NM_001014380.3:c.954C>G, NM_001014380.2:c.954C>G, XM_017020793.3:c.450C>G, XM_017020793.2:c.450C>G, XM_017020793.1:c.450C>G, XM_024449423.2:c.954C>G, XM_024449423.1:c.954C>G, XM_024449424.2:c.954C>G, XM_024449424.1:c.954C>G, XM_047430703.1:c.954C>G, XM_047430704.1:c.450C>G

Select item 146047350515.

rs1460473505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:30255614 (GRCh38)
13:30829751 (GRCh37)
Canonical SPDI:: NC_000013.11:30255613:C:T
Gene:: KATNAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.30255614C>T, NC_000013.10:g.30829751C>T, NM_032116.5:c.325G>A, NM_032116.4:c.325G>A, XM_005266574.4:c.325G>A, XM_005266574.3:c.325G>A, XM_005266574.2:c.325G>A, XM_005266574.1:c.325G>A, NM_001014380.3:c.325G>A, NM_001014380.2:c.325G>A, XM_024449423.2:c.325G>A, XM_024449423.1:c.325G>A, XM_024449424.2:c.325G>A, XM_024449424.1:c.325G>A, XM_047430703.1:c.325G>A, NP_115492.1:p.Ala109Thr, XP_005266631.1:p.Ala109Thr, NP_001014402.1:p.Ala109Thr, XP_024305191.1:p.Ala109Thr, XP_024305192.1:p.Ala109Thr, XP_047286659.1:p.Ala109Thr

Select item 146036585716.

rs1460365857 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:30210340 (GRCh38)
13:30784477 (GRCh37)
Canonical SPDI:: NC_000013.11:30210339:CC:C
Gene:: KATNAL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30210341del, NC_000013.10:g.30784478del, NM_032116.5:c.1250del, NM_032116.4:c.1250del, XM_005266574.4:c.1250del, XM_005266574.3:c.1250del, XM_005266574.2:c.1250del, XM_005266574.1:c.1250del, NM_001014380.3:c.1250del, NM_001014380.2:c.1250del, XM_017020793.3:c.746del, XM_017020793.2:c.746del, XM_017020793.1:c.746del, XM_024449423.2:c.1250del, XM_024449423.1:c.1250del, XM_024449424.2:c.1250del, XM_024449424.1:c.1250del, XM_047430703.1:c.1250del, XM_047430704.1:c.746del, NP_115492.1:p.Gly417fs, XP_005266631.1:p.Gly417fs, NP_001014402.1:p.Gly417fs, XP_016876282.1:p.Gly249fs, XP_024305191.1:p.Gly417fs, XP_024305192.1:p.Gly417fs, XP_047286659.1:p.Gly417fs, XP_047286660.1:p.Gly249fs

Select item 145926140917.

rs1459261409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:30230484 (GRCh38)
13:30804621 (GRCh37)
Canonical SPDI:: NC_000013.11:30230483:C:A
Gene:: KATNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.30230484C>A, NC_000013.10:g.30804621C>A, NM_032116.5:c.996G>T, NM_032116.4:c.996G>T, XM_005266574.4:c.996G>T, XM_005266574.3:c.996G>T, XM_005266574.2:c.996G>T, XM_005266574.1:c.996G>T, NM_001014380.3:c.996G>T, NM_001014380.2:c.996G>T, XM_017020793.3:c.492G>T, XM_017020793.2:c.492G>T, XM_017020793.1:c.492G>T, XM_024449423.2:c.996G>T, XM_024449423.1:c.996G>T, XM_024449424.2:c.996G>T, XM_024449424.1:c.996G>T, XM_047430703.1:c.996G>T, XM_047430704.1:c.492G>T

Select item 145826344818.

rs1458263448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:30210385 (GRCh38)
13:30784522 (GRCh37)
Canonical SPDI:: NC_000013.11:30210384:T:C
Gene:: KATNAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30210385T>C, NC_000013.10:g.30784522T>C, NM_032116.5:c.1205A>G, NM_032116.4:c.1205A>G, XM_005266574.4:c.1205A>G, XM_005266574.3:c.1205A>G, XM_005266574.2:c.1205A>G, XM_005266574.1:c.1205A>G, NM_001014380.3:c.1205A>G, NM_001014380.2:c.1205A>G, XM_017020793.3:c.701A>G, XM_017020793.2:c.701A>G, XM_017020793.1:c.701A>G, XM_024449423.2:c.1205A>G, XM_024449423.1:c.1205A>G, XM_024449424.2:c.1205A>G, XM_024449424.1:c.1205A>G, XM_047430703.1:c.1205A>G, XM_047430704.1:c.701A>G, NP_115492.1:p.Asp402Gly, XP_005266631.1:p.Asp402Gly, NP_001014402.1:p.Asp402Gly, XP_016876282.1:p.Asp234Gly, XP_024305191.1:p.Asp402Gly, XP_024305192.1:p.Asp402Gly, XP_047286659.1:p.Asp402Gly, XP_047286660.1:p.Asp234Gly

Select item 145542425619.

rs1455424256 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:30255538 (GRCh38)
13:30829675 (GRCh37)
Canonical SPDI:: NC_000013.11:30255537:CCCC:CCC
Gene:: KATNAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000013.11:g.30255541del, NC_000013.10:g.30829678del, NM_032116.5:c.401del, NM_032116.4:c.401del, XM_005266574.4:c.401del, XM_005266574.3:c.401del, XM_005266574.2:c.401del, XM_005266574.1:c.401del, NM_001014380.3:c.401del, NM_001014380.2:c.401del, XM_024449423.2:c.401del, XM_024449423.1:c.401del, XM_024449424.2:c.401del, XM_024449424.1:c.401del, XM_047430703.1:c.401del, NP_115492.1:p.Gly134fs, XP_005266631.1:p.Gly134fs, NP_001014402.1:p.Gly134fs, XP_024305191.1:p.Gly134fs, XP_024305192.1:p.Gly134fs, XP_047286659.1:p.Gly134fs

Select item 145204761220.

rs1452047612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:30227498 (GRCh38)
13:30801635 (GRCh37)
Canonical SPDI:: NC_000013.11:30227497:A:G
Gene:: KATNAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30227498A>G, NC_000013.10:g.30801635A>G, NM_032116.5:c.1061T>C, NM_032116.4:c.1061T>C, XM_005266574.4:c.1061T>C, XM_005266574.3:c.1061T>C, XM_005266574.2:c.1061T>C, XM_005266574.1:c.1061T>C, NM_001014380.3:c.1061T>C, NM_001014380.2:c.1061T>C, XM_017020793.3:c.557T>C, XM_017020793.2:c.557T>C, XM_017020793.1:c.557T>C, XM_024449423.2:c.1061T>C, XM_024449423.1:c.1061T>C, XM_024449424.2:c.1061T>C, XM_024449424.1:c.1061T>C, XM_047430703.1:c.1061T>C, XM_047430704.1:c.557T>C, NP_115492.1:p.Val354Ala, XP_005266631.1:p.Val354Ala, NP_001014402.1:p.Val354Ala, XP_016876282.1:p.Val186Ala, XP_024305191.1:p.Val354Ala, XP_024305192.1:p.Val354Ala, XP_047286659.1:p.Val354Ala, XP_047286660.1:p.Val186Ala

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