SNP Links for Protein (Select 160707985) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 404

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Select item 14894577771.

rs1489457777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41320745 (GRCh38)
13:41894881 (GRCh37)
Canonical SPDI:: NC_000013.11:41320744:A:G
Gene:: NAA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.41320745A>G, NC_000013.10:g.41894881A>G, NM_024561.5:c.323A>G, NM_024561.4:c.323A>G, XM_006719866.4:c.323A>G, XM_006719866.3:c.323A>G, XM_006719866.2:c.323A>G, XM_006719866.1:c.323A>G, NM_018527.4:c.323A>G, NM_018527.3:c.323A>G, XM_017020745.3:c.323A>G, XM_017020745.2:c.323A>G, XM_017020745.1:c.323A>G, XM_017020746.3:c.323A>G, XM_017020746.2:c.323A>G, XM_017020746.1:c.323A>G, XM_011535228.3:c.323A>G, XM_011535228.2:c.323A>G, XM_011535228.1:c.323A>G, NM_001110798.2:c.323A>G, NM_001110798.1:c.323A>G, XM_047430610.1:c.-56A>G, XM_047430612.1:c.323A>G, XM_047430611.1:c.323A>G, NP_078837.3:p.Lys108Arg, XP_006719929.1:p.Lys108Arg, NP_060997.2:p.Lys108Arg, XP_016876234.1:p.Lys108Arg, XP_016876235.1:p.Lys108Arg, XP_011533530.1:p.Lys108Arg, NP_001104268.1:p.Lys108Arg, XP_047286568.1:p.Lys108Arg, XP_047286567.1:p.Lys108Arg

Select item 14892988472.

rs1489298847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41320753 (GRCh38)
13:41894889 (GRCh37)
Canonical SPDI:: NC_000013.11:41320752:A:G
Gene:: NAA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41320753A>G, NC_000013.10:g.41894889A>G, NM_024561.5:c.331A>G, NM_024561.4:c.331A>G, XM_006719866.4:c.331A>G, XM_006719866.3:c.331A>G, XM_006719866.2:c.331A>G, XM_006719866.1:c.331A>G, NM_018527.4:c.331A>G, NM_018527.3:c.331A>G, XM_017020745.3:c.331A>G, XM_017020745.2:c.331A>G, XM_017020745.1:c.331A>G, XM_017020746.3:c.331A>G, XM_017020746.2:c.331A>G, XM_017020746.1:c.331A>G, XM_011535228.3:c.331A>G, XM_011535228.2:c.331A>G, XM_011535228.1:c.331A>G, NM_001110798.2:c.331A>G, NM_001110798.1:c.331A>G, XM_047430610.1:c.-48A>G, XM_047430612.1:c.331A>G, XM_047430611.1:c.331A>G, NP_078837.3:p.Lys111Glu, XP_006719929.1:p.Lys111Glu, NP_060997.2:p.Lys111Glu, XP_016876234.1:p.Lys111Glu, XP_016876235.1:p.Lys111Glu, XP_011533530.1:p.Lys111Glu, NP_001104268.1:p.Lys111Glu, XP_047286568.1:p.Lys111Glu, XP_047286567.1:p.Lys111Glu

Select item 14888419863.

rs1488841986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41328783 (GRCh38)
13:41902919 (GRCh37)
Canonical SPDI:: NC_000013.11:41328782:A:G
Gene:: NAA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41328783A>G, NC_000013.10:g.41902919A>G, NM_024561.5:c.751A>G, NM_024561.4:c.751A>G, XM_006719866.4:c.751A>G, XM_006719866.3:c.751A>G, XM_006719866.2:c.751A>G, XM_006719866.1:c.751A>G, NM_018527.4:c.751A>G, NM_018527.3:c.751A>G, XM_017020745.3:c.751A>G, XM_017020745.2:c.751A>G, XM_017020745.1:c.751A>G, XM_017020746.3:c.751A>G, XM_017020746.2:c.751A>G, XM_017020746.1:c.751A>G, XM_011535228.3:c.751A>G, XM_011535228.2:c.751A>G, XM_011535228.1:c.751A>G, NM_001110798.2:c.751A>G, NM_001110798.1:c.751A>G, XM_047430610.1:c.373A>G, XM_047430612.1:c.751A>G, XM_047430611.1:c.751A>G, NP_078837.3:p.Ile251Val, XP_006719929.1:p.Ile251Val, NP_060997.2:p.Ile251Val, XP_016876234.1:p.Ile251Val, XP_016876235.1:p.Ile251Val, XP_011533530.1:p.Ile251Val, NP_001104268.1:p.Ile251Val, XP_047286566.1:p.Ile125Val, XP_047286568.1:p.Ile251Val, XP_047286567.1:p.Ile251Val

Select item 14811593674.

rs1481159367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:41358388 (GRCh38)
13:41932524 (GRCh37)
Canonical SPDI:: NC_000013.11:41358387:C:A,NC_000013.11:41358387:C:T
Gene:: NAA16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41358388C>A, NC_000013.11:g.41358388C>T, NC_000013.10:g.41932524C>A, NC_000013.10:g.41932524C>T, NM_024561.5:c.1172C>A, NM_024561.5:c.1172C>T, NM_024561.4:c.1172C>A, NM_024561.4:c.1172C>T, XM_006719866.4:c.992C>A, XM_006719866.4:c.992C>T, XM_006719866.3:c.992C>A, XM_006719866.3:c.992C>T, XM_006719866.2:c.992C>A, XM_006719866.2:c.992C>T, XM_006719866.1:c.992C>A, XM_006719866.1:c.992C>T, NM_018527.4:c.*129C>A, NM_018527.4:c.*129C>T, NM_018527.3:c.*129C>A, NM_018527.3:c.*129C>T, XM_011535228.3:c.1172C>A, XM_011535228.3:c.1172C>T, XM_011535228.2:c.1172C>A, XM_011535228.2:c.1172C>T, XM_011535228.1:c.1172C>A, XM_011535228.1:c.1172C>T, NM_001110798.2:c.1172C>A, NM_001110798.2:c.1172C>T, NM_001110798.1:c.1172C>A, NM_001110798.1:c.1172C>T, XM_047430610.1:c.794C>A, XM_047430610.1:c.794C>T, XM_047430611.1:c.1099C>A, XM_047430611.1:c.1099C>T, NP_078837.3:p.Ser391Tyr, NP_078837.3:p.Ser391Phe, XP_006719929.1:p.Ser331Tyr, XP_006719929.1:p.Ser331Phe, XP_011533530.1:p.Ser391Tyr, XP_011533530.1:p.Ser391Phe, NP_001104268.1:p.Ser391Tyr, NP_001104268.1:p.Ser391Phe, XP_047286566.1:p.Ser265Tyr, XP_047286566.1:p.Ser265Phe, XP_047286567.1:p.Leu367Ile, XP_047286567.1:p.Leu367Phe

Select item 14784425215.

rs1478442521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:41318843 (GRCh38)
13:41892979 (GRCh37)
Canonical SPDI:: NC_000013.11:41318842:A:T
Gene:: NAA16 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_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_000013.11:g.41318843A>T, NC_000013.10:g.41892979A>T, NM_024561.5:c.177A>T, NM_024561.4:c.177A>T, XM_006719866.4:c.177A>T, XM_006719866.3:c.177A>T, XM_006719866.2:c.177A>T, XM_006719866.1:c.177A>T, NM_018527.4:c.177A>T, NM_018527.3:c.177A>T, XM_017020745.3:c.177A>T, XM_017020745.2:c.177A>T, XM_017020745.1:c.177A>T, XM_017020746.3:c.177A>T, XM_017020746.2:c.177A>T, XM_017020746.1:c.177A>T, XM_011535228.3:c.177A>T, XM_011535228.2:c.177A>T, XM_011535228.1:c.177A>T, NM_001110798.2:c.177A>T, NM_001110798.1:c.177A>T, XM_047430612.1:c.177A>T, XM_047430611.1:c.177A>T, NP_078837.3:p.Leu59Phe, XP_006719929.1:p.Leu59Phe, NP_060997.2:p.Leu59Phe, XP_016876234.1:p.Leu59Phe, XP_016876235.1:p.Leu59Phe, XP_011533530.1:p.Leu59Phe, NP_001104268.1:p.Leu59Phe, XP_047286568.1:p.Leu59Phe, XP_047286567.1:p.Leu59Phe

Select item 14775016976.

rs1477501697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41336730 (GRCh38)
13:41910866 (GRCh37)
Canonical SPDI:: NC_000013.11:41336729:A:G
Gene:: NAA16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_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.41336730A>G, NC_000013.10:g.41910866A>G, NM_024561.5:c.988A>G, NM_024561.4:c.988A>G, XM_017020746.3:c.988A>G, XM_017020746.2:c.988A>G, XM_017020746.1:c.988A>G, XM_011535228.3:c.988A>G, XM_011535228.2:c.988A>G, XM_011535228.1:c.988A>G, NM_001110798.2:c.988A>G, NM_001110798.1:c.988A>G, XM_047430610.1:c.610A>G, XM_047430611.1:c.988A>G, NP_078837.3:p.Lys330Glu, XP_016876235.1:p.Lys330Glu, XP_011533530.1:p.Lys330Glu, NP_001104268.1:p.Lys330Glu, XP_047286566.1:p.Lys204Glu, XP_047286567.1:p.Lys330Glu

Select item 14714473607.

rs1471447360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:41358491 (GRCh38)
13:41932627 (GRCh37)
Canonical SPDI:: NC_000013.11:41358490:T:G
Gene:: NAA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41358491T>G, NC_000013.10:g.41932627T>G, NM_018527.4:c.*232T>G, NM_018527.3:c.*232T>G, NM_001110798.2:c.1275T>G, NM_001110798.1:c.1275T>G, NP_001104268.1:p.Cys425Trp

Select item 14709880388.

rs1470988038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:41358486 (GRCh38)
13:41932622 (GRCh37)
Canonical SPDI:: NC_000013.11:41358485:T:C
Gene:: NAA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41358486T>C, NC_000013.10:g.41932622T>C, NM_018527.4:c.*227T>C, NM_018527.3:c.*227T>C, NM_001110798.2:c.1270T>C, NM_001110798.1:c.1270T>C, NP_001104268.1:p.Ser424Pro

Select item 14681879939.

rs1468187993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41331296 (GRCh38)
13:41905432 (GRCh37)
Canonical SPDI:: NC_000013.11:41331295:A:G
Gene:: NAA16 (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=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41331296A>G, NC_000013.10:g.41905432A>G, NM_024561.5:c.834A>G, NM_024561.4:c.834A>G, XM_006719866.4:c.834A>G, XM_006719866.3:c.834A>G, XM_006719866.2:c.834A>G, XM_006719866.1:c.834A>G, NM_018527.4:c.834A>G, NM_018527.3:c.834A>G, XM_017020745.3:c.834A>G, XM_017020745.2:c.834A>G, XM_017020745.1:c.834A>G, XM_017020746.3:c.834A>G, XM_017020746.2:c.834A>G, XM_017020746.1:c.834A>G, XM_011535228.3:c.834A>G, XM_011535228.2:c.834A>G, XM_011535228.1:c.834A>G, NM_001110798.2:c.834A>G, NM_001110798.1:c.834A>G, XM_047430610.1:c.456A>G, XM_047430612.1:c.834A>G, XM_047430611.1:c.834A>G

Select item 146678172710.

rs1466781727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:41318861 (GRCh38)
13:41892997 (GRCh37)
Canonical SPDI:: NC_000013.11:41318860:T:G
Gene:: NAA16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_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_000013.11:g.41318861T>G, NC_000013.10:g.41892997T>G, NM_024561.5:c.195T>G, NM_024561.4:c.195T>G, XM_006719866.4:c.195T>G, XM_006719866.3:c.195T>G, XM_006719866.2:c.195T>G, XM_006719866.1:c.195T>G, NM_018527.4:c.195T>G, NM_018527.3:c.195T>G, XM_017020745.3:c.195T>G, XM_017020745.2:c.195T>G, XM_017020745.1:c.195T>G, XM_017020746.3:c.195T>G, XM_017020746.2:c.195T>G, XM_017020746.1:c.195T>G, XM_011535228.3:c.195T>G, XM_011535228.2:c.195T>G, XM_011535228.1:c.195T>G, NM_001110798.2:c.195T>G, NM_001110798.1:c.195T>G, XM_047430612.1:c.195T>G, XM_047430611.1:c.195T>G

Select item 146413505511.

rs1464135055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41355172 (GRCh38)
13:41929308 (GRCh37)
Canonical SPDI:: NC_000013.11:41355171:A:G
Gene:: NAA16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,terminator_codon_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000013.11:g.41355172A>G, NC_000013.10:g.41929308A>G, NM_024561.5:c.1043A>G, NM_024561.4:c.1043A>G, NM_018527.4:c.936A>G, NM_018527.3:c.936A>G, XM_011535228.3:c.1043A>G, XM_011535228.2:c.1043A>G, XM_011535228.1:c.1043A>G, NM_001110798.2:c.1043A>G, NM_001110798.1:c.1043A>G, XM_047430610.1:c.665A>G, NP_078837.3:p.Asn348Ser, XP_011533530.1:p.Asn348Ser, NP_001104268.1:p.Asn348Ser, XP_047286566.1:p.Asn222Ser

Select item 146262587512.

rs1462625875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:41336744 (GRCh38)
13:41910880 (GRCh37)
Canonical SPDI:: NC_000013.11:41336743:C:T
Gene:: NAA16 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000013.11:g.41336744C>T, NC_000013.10:g.41910880C>T, NM_024561.5:c.1002C>T, NM_024561.4:c.1002C>T, XM_017020746.3:c.1002C>T, XM_017020746.2:c.1002C>T, XM_017020746.1:c.1002C>T, XM_011535228.3:c.1002C>T, XM_011535228.2:c.1002C>T, XM_011535228.1:c.1002C>T, NM_001110798.2:c.1002C>T, NM_001110798.1:c.1002C>T, XM_047430610.1:c.624C>T, XM_047430611.1:c.1002C>T

Select item 146165353813.

rs1461653538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41323119 (GRCh38)
13:41897255 (GRCh37)
Canonical SPDI:: NC_000013.11:41323118:A:G
Gene:: NAA16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41323119A>G, NC_000013.10:g.41897255A>G, NM_024561.5:c.466A>G, NM_024561.4:c.466A>G, XM_006719866.4:c.466A>G, XM_006719866.3:c.466A>G, XM_006719866.2:c.466A>G, XM_006719866.1:c.466A>G, NM_018527.4:c.466A>G, NM_018527.3:c.466A>G, XM_017020745.3:c.466A>G, XM_017020745.2:c.466A>G, XM_017020745.1:c.466A>G, XM_017020746.3:c.466A>G, XM_017020746.2:c.466A>G, XM_017020746.1:c.466A>G, XM_011535228.3:c.466A>G, XM_011535228.2:c.466A>G, XM_011535228.1:c.466A>G, NM_001110798.2:c.466A>G, NM_001110798.1:c.466A>G, XM_047430610.1:c.88A>G, XM_047430612.1:c.466A>G, XM_047430611.1:c.466A>G, NP_078837.3:p.Ile156Val, XP_006719929.1:p.Ile156Val, NP_060997.2:p.Ile156Val, XP_016876234.1:p.Ile156Val, XP_016876235.1:p.Ile156Val, XP_011533530.1:p.Ile156Val, NP_001104268.1:p.Ile156Val, XP_047286566.1:p.Ile30Val, XP_047286568.1:p.Ile156Val, XP_047286567.1:p.Ile156Val

Select item 145799266614.

rs1457992666 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 13:41320713 (GRCh38)
13:41894849 (GRCh37)
Canonical SPDI:: NC_000013.11:41320708:ATGATGA:ATGA
Gene:: NAA16 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGA=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.41320710TGA[1], NC_000013.10:g.41894846TGA[1], NM_024561.5:c.288TGA[1], NM_024561.4:c.288TGA[1], XM_006719866.4:c.288TGA[1], XM_006719866.3:c.288TGA[1], XM_006719866.2:c.288TGA[1], XM_006719866.1:c.288TGA[1], NM_018527.4:c.288TGA[1], NM_018527.3:c.288TGA[1], XM_017020745.3:c.288TGA[1], XM_017020745.2:c.288TGA[1], XM_017020745.1:c.288TGA[1], XM_017020746.3:c.288TGA[1], XM_017020746.2:c.288TGA[1], XM_017020746.1:c.288TGA[1], XM_011535228.3:c.288TGA[1], XM_011535228.2:c.288TGA[1], XM_011535228.1:c.288TGA[1], NM_001110798.2:c.288TGA[1], NM_001110798.1:c.288TGA[1], XM_047430610.1:c.-91TGA[1], XM_047430612.1:c.288TGA[1], XM_047430611.1:c.288TGA[1], NP_078837.3:p.Asp97del, XP_006719929.1:p.Asp97del, NP_060997.2:p.Asp97del, XP_016876234.1:p.Asp97del, XP_016876235.1:p.Asp97del, XP_011533530.1:p.Asp97del, NP_001104268.1:p.Asp97del, XP_047286568.1:p.Asp97del, XP_047286567.1:p.Asp97del

Select item 145188614515.

rs1451886145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:41331291 (GRCh38)
13:41905427 (GRCh37)
Canonical SPDI:: NC_000013.11:41331290:C:T
Gene:: NAA16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41331291C>T, NC_000013.10:g.41905427C>T, NM_024561.5:c.829C>T, NM_024561.4:c.829C>T, XM_006719866.4:c.829C>T, XM_006719866.3:c.829C>T, XM_006719866.2:c.829C>T, XM_006719866.1:c.829C>T, NM_018527.4:c.829C>T, NM_018527.3:c.829C>T, XM_017020745.3:c.829C>T, XM_017020745.2:c.829C>T, XM_017020745.1:c.829C>T, XM_017020746.3:c.829C>T, XM_017020746.2:c.829C>T, XM_017020746.1:c.829C>T, XM_011535228.3:c.829C>T, XM_011535228.2:c.829C>T, XM_011535228.1:c.829C>T, NM_001110798.2:c.829C>T, NM_001110798.1:c.829C>T, XM_047430610.1:c.451C>T, XM_047430612.1:c.829C>T, XM_047430611.1:c.829C>T, NP_078837.3:p.Leu277Phe, XP_006719929.1:p.Leu277Phe, NP_060997.2:p.Leu277Phe, XP_016876234.1:p.Leu277Phe, XP_016876235.1:p.Leu277Phe, XP_011533530.1:p.Leu277Phe, NP_001104268.1:p.Leu277Phe, XP_047286566.1:p.Leu151Phe, XP_047286568.1:p.Leu277Phe, XP_047286567.1:p.Leu277Phe

Select item 144805301616.

rs1448053016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:41316847 (GRCh38)
13:41890983 (GRCh37)
Canonical SPDI:: NC_000013.11:41316846:A:C
Gene:: NAA16 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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.41316847A>C, NC_000013.10:g.41890983A>C, NM_024561.5:c.56A>C, NM_024561.4:c.56A>C, XM_006719866.4:c.56A>C, XM_006719866.3:c.56A>C, XM_006719866.2:c.56A>C, XM_006719866.1:c.56A>C, NM_018527.4:c.56A>C, NM_018527.3:c.56A>C, XM_017020745.3:c.56A>C, XM_017020745.2:c.56A>C, XM_017020745.1:c.56A>C, XM_017020746.3:c.56A>C, XM_017020746.2:c.56A>C, XM_017020746.1:c.56A>C, XM_011535228.3:c.56A>C, XM_011535228.2:c.56A>C, XM_011535228.1:c.56A>C, NM_001110798.2:c.56A>C, NM_001110798.1:c.56A>C, XM_047430612.1:c.56A>C, XM_047430611.1:c.56A>C, NP_078837.3:p.Lys19Thr, XP_006719929.1:p.Lys19Thr, NP_060997.2:p.Lys19Thr, XP_016876234.1:p.Lys19Thr, XP_016876235.1:p.Lys19Thr, XP_011533530.1:p.Lys19Thr, NP_001104268.1:p.Lys19Thr, XP_047286568.1:p.Lys19Thr, XP_047286567.1:p.Lys19Thr

Select item 144702486317.

rs1447024863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:41311534 (GRCh38)
13:41885670 (GRCh37)
Canonical SPDI:: NC_000013.11:41311533:G:A,NC_000013.11:41311533:G:C
Gene:: MTRF1 (Varview), NAA16 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41311534G>A, NC_000013.11:g.41311534G>C, NC_000013.10:g.41885670G>A, NC_000013.10:g.41885670G>C, NM_024561.5:c.6G>A, NM_024561.5:c.6G>C, NM_024561.4:c.6G>A, NM_024561.4:c.6G>C, XM_006719866.4:c.6G>A, XM_006719866.4:c.6G>C, XM_006719866.3:c.6G>A, XM_006719866.3:c.6G>C, XM_006719866.2:c.6G>A, XM_006719866.2:c.6G>C, XM_006719866.1:c.6G>A, XM_006719866.1:c.6G>C, NM_018527.4:c.6G>A, NM_018527.4:c.6G>C, NM_018527.3:c.6G>A, NM_018527.3:c.6G>C, XM_017020745.3:c.6G>A, XM_017020745.3:c.6G>C, XM_017020745.2:c.6G>A, XM_017020745.2:c.6G>C, XM_017020745.1:c.6G>A, XM_017020745.1:c.6G>C, XM_017020746.3:c.6G>A, XM_017020746.3:c.6G>C, XM_017020746.2:c.6G>A, XM_017020746.2:c.6G>C, XM_017020746.1:c.6G>A, XM_017020746.1:c.6G>C, XM_011535228.3:c.6G>A, XM_011535228.3:c.6G>C, XM_011535228.2:c.6G>A, XM_011535228.2:c.6G>C, XM_011535228.1:c.6G>A, XM_011535228.1:c.6G>C, NM_001110798.2:c.6G>A, NM_001110798.2:c.6G>C, NM_001110798.1:c.6G>A, NM_001110798.1:c.6G>C, XM_047430612.1:c.6G>A, XM_047430612.1:c.6G>C, XM_047430611.1:c.6G>A, XM_047430611.1:c.6G>C

Select item 144436242918.

rs1444362429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41325810 (GRCh38)
13:41899946 (GRCh37)
Canonical SPDI:: NC_000013.11:41325809:A:G
Gene:: NAA16 (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_000013.11:g.41325810A>G, NC_000013.10:g.41899946A>G, NM_024561.5:c.650A>G, NM_024561.4:c.650A>G, XM_006719866.4:c.650A>G, XM_006719866.3:c.650A>G, XM_006719866.2:c.650A>G, XM_006719866.1:c.650A>G, NM_018527.4:c.650A>G, NM_018527.3:c.650A>G, XM_017020745.3:c.650A>G, XM_017020745.2:c.650A>G, XM_017020745.1:c.650A>G, XM_017020746.3:c.650A>G, XM_017020746.2:c.650A>G, XM_017020746.1:c.650A>G, XM_011535228.3:c.650A>G, XM_011535228.2:c.650A>G, XM_011535228.1:c.650A>G, NM_001110798.2:c.650A>G, NM_001110798.1:c.650A>G, XM_047430610.1:c.272A>G, XM_047430612.1:c.650A>G, XM_047430611.1:c.650A>G, NP_078837.3:p.Glu217Gly, XP_006719929.1:p.Glu217Gly, NP_060997.2:p.Glu217Gly, XP_016876234.1:p.Glu217Gly, XP_016876235.1:p.Glu217Gly, XP_011533530.1:p.Glu217Gly, NP_001104268.1:p.Glu217Gly, XP_047286566.1:p.Glu91Gly, XP_047286568.1:p.Glu217Gly, XP_047286567.1:p.Glu217Gly

Select item 144391425719.

rs1443914257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:41325775 (GRCh38)
13:41899911 (GRCh37)
Canonical SPDI:: NC_000013.11:41325774:G:A
Gene:: NAA16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41325775G>A, NC_000013.10:g.41899911G>A, NM_024561.5:c.615G>A, NM_024561.4:c.615G>A, XM_006719866.4:c.615G>A, XM_006719866.3:c.615G>A, XM_006719866.2:c.615G>A, XM_006719866.1:c.615G>A, NM_018527.4:c.615G>A, NM_018527.3:c.615G>A, XM_017020745.3:c.615G>A, XM_017020745.2:c.615G>A, XM_017020745.1:c.615G>A, XM_017020746.3:c.615G>A, XM_017020746.2:c.615G>A, XM_017020746.1:c.615G>A, XM_011535228.3:c.615G>A, XM_011535228.2:c.615G>A, XM_011535228.1:c.615G>A, NM_001110798.2:c.615G>A, NM_001110798.1:c.615G>A, XM_047430610.1:c.237G>A, XM_047430612.1:c.615G>A, XM_047430611.1:c.615G>A

Select item 144221209820.

rs1442212098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:41323063 (GRCh38)
13:41897199 (GRCh37)
Canonical SPDI:: NC_000013.11:41323062:G:T
Gene:: NAA16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.41323063G>T, NC_000013.10:g.41897199G>T, NM_024561.5:c.410G>T, NM_024561.4:c.410G>T, XM_006719866.4:c.410G>T, XM_006719866.3:c.410G>T, XM_006719866.2:c.410G>T, XM_006719866.1:c.410G>T, NM_018527.4:c.410G>T, NM_018527.3:c.410G>T, XM_017020745.3:c.410G>T, XM_017020745.2:c.410G>T, XM_017020745.1:c.410G>T, XM_017020746.3:c.410G>T, XM_017020746.2:c.410G>T, XM_017020746.1:c.410G>T, XM_011535228.3:c.410G>T, XM_011535228.2:c.410G>T, XM_011535228.1:c.410G>T, NM_001110798.2:c.410G>T, NM_001110798.1:c.410G>T, XM_047430610.1:c.32G>T, XM_047430612.1:c.410G>T, XM_047430611.1:c.410G>T, NP_078837.3:p.Arg137Ile, XP_006719929.1:p.Arg137Ile, NP_060997.2:p.Arg137Ile, XP_016876234.1:p.Arg137Ile, XP_016876235.1:p.Arg137Ile, XP_011533530.1:p.Arg137Ile, NP_001104268.1:p.Arg137Ile, XP_047286566.1:p.Arg11Ile, XP_047286568.1:p.Arg137Ile, XP_047286567.1:p.Arg137Ile

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