SNP Links for Protein (Select 40548413) - SNP

Links from Protein

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Select item 14884160351.

rs1488416035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:43805246 (GRCh38)
2:44032385 (GRCh37)
Canonical SPDI:: NC_000002.12:43805245:G:C
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.43805246G>C, NC_000002.11:g.44032385G>C, NG_053008.1:g.36208G>C, NM_016008.4:c.993G>C, NM_016008.3:c.993G>C, NM_001348913.2:c.996G>C, NM_001348913.1:c.996G>C, NM_001348912.2:c.993G>C, NM_001348912.1:c.993G>C, NM_001193464.2:c.996G>C, NM_001193464.1:c.996G>C, NM_001012665.1:c.993G>C

Select item 14793532922.

rs1479353292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:43804653 (GRCh38)
2:44031792 (GRCh37)
Canonical SPDI:: NC_000002.12:43804652:G:A,NC_000002.12:43804652:G:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43804653G>A, NC_000002.12:g.43804653G>T, NC_000002.11:g.44031792G>A, NC_000002.11:g.44031792G>T, NG_053008.1:g.35615G>A, NG_053008.1:g.35615G>T, NM_016008.4:c.814G>A, NM_016008.4:c.814G>T, NM_016008.3:c.814G>A, NM_016008.3:c.814G>T, NM_001348913.2:c.817G>A, NM_001348913.2:c.817G>T, NM_001348913.1:c.817G>A, NM_001348913.1:c.817G>T, NM_001348912.2:c.814G>A, NM_001348912.2:c.814G>T, NM_001348912.1:c.814G>A, NM_001348912.1:c.814G>T, NM_001193464.2:c.817G>A, NM_001193464.2:c.817G>T, NM_001193464.1:c.817G>A, NM_001193464.1:c.817G>T, NM_001012665.1:c.814G>A, NM_001012665.1:c.814G>T, NP_057092.2:p.Val272Ile, NP_057092.2:p.Val272Phe, NP_001335842.1:p.Val273Ile, NP_001335842.1:p.Val273Phe, NP_001335841.1:p.Val272Ile, NP_001335841.1:p.Val272Phe, NP_001180393.1:p.Val273Ile, NP_001180393.1:p.Val273Phe

Select item 14791182273.

rs1479118227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43796770 (GRCh38)
2:44023909 (GRCh37)
Canonical SPDI:: NC_000002.12:43796769:C:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.43796770C>T, NC_000002.11:g.44023909C>T, NG_053008.1:g.27732C>T, NM_016008.4:c.629C>T, NM_016008.3:c.629C>T, NM_001348913.2:c.632C>T, NM_001348913.1:c.632C>T, NM_001348912.2:c.629C>T, NM_001348912.1:c.629C>T, NM_001193464.2:c.632C>T, NM_001193464.1:c.632C>T, NM_001012665.1:c.629C>T, NP_057092.2:p.Ala210Val, NP_001335842.1:p.Ala211Val, NP_001335841.1:p.Ala210Val, NP_001180393.1:p.Ala211Val

Select item 14742458524.

rs1474245852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:43805229 (GRCh38)
2:44032368 (GRCh37)
Canonical SPDI:: NC_000002.12:43805228:A:G
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.43805229A>G, NC_000002.11:g.44032368A>G, NG_053008.1:g.36191A>G, NM_016008.4:c.976A>G, NM_016008.3:c.976A>G, NM_001348913.2:c.979A>G, NM_001348913.1:c.979A>G, NM_001348912.2:c.976A>G, NM_001348912.1:c.976A>G, NM_001193464.2:c.979A>G, NM_001193464.1:c.979A>G, NM_001012665.1:c.976A>G, NP_057092.2:p.Arg326Gly, NP_001335842.1:p.Arg327Gly, NP_001335841.1:p.Arg326Gly, NP_001180393.1:p.Arg327Gly

Select item 14722474615.

rs1472247461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43804667 (GRCh38)
2:44031806 (GRCh37)
Canonical SPDI:: NC_000002.12:43804666:C:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.43804667C>T, NC_000002.11:g.44031806C>T, NG_053008.1:g.35629C>T, NM_016008.4:c.828C>T, NM_016008.3:c.828C>T, NM_001348913.2:c.831C>T, NM_001348913.1:c.831C>T, NM_001348912.2:c.828C>T, NM_001348912.1:c.828C>T, NM_001193464.2:c.831C>T, NM_001193464.1:c.831C>T, NM_001012665.1:c.828C>T

Select item 14633590766.

rs1463359076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:43801644 (GRCh38)
2:44028783 (GRCh37)
Canonical SPDI:: NC_000002.12:43801643:C:A,NC_000002.12:43801643:C:G
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43801644C>A, NC_000002.12:g.43801644C>G, NC_000002.11:g.44028783C>A, NC_000002.11:g.44028783C>G, NG_053008.1:g.32606C>A, NG_053008.1:g.32606C>G, NM_016008.4:c.737C>A, NM_016008.4:c.737C>G, NM_016008.3:c.737C>A, NM_016008.3:c.737C>G, NM_001348913.2:c.740C>A, NM_001348913.2:c.740C>G, NM_001348913.1:c.740C>A, NM_001348913.1:c.740C>G, NM_001348912.2:c.737C>A, NM_001348912.2:c.737C>G, NM_001348912.1:c.737C>A, NM_001348912.1:c.737C>G, NM_001193464.2:c.740C>A, NM_001193464.2:c.740C>G, NM_001193464.1:c.740C>A, NM_001193464.1:c.740C>G, NM_001012665.1:c.737C>A, NM_001012665.1:c.737C>G, NP_057092.2:p.Ser246Ter, NP_057092.2:p.Ser246Ter, NP_001335842.1:p.Ser247Ter, NP_001335842.1:p.Ser247Ter, NP_001335841.1:p.Ser246Ter, NP_001335841.1:p.Ser246Ter, NP_001180393.1:p.Ser247Ter, NP_001180393.1:p.Ser247Ter

Select item 14618297407.

rs1461829740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:43801709 (GRCh38)
2:44028848 (GRCh37)
Canonical SPDI:: NC_000002.12:43801708:G:A
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43801709G>A, NC_000002.11:g.44028848G>A, NG_053008.1:g.32671G>A, NM_016008.4:c.802G>A, NM_016008.3:c.802G>A, NM_001348913.2:c.805G>A, NM_001348913.1:c.805G>A, NM_001348912.2:c.802G>A, NM_001348912.1:c.802G>A, NM_001193464.2:c.805G>A, NM_001193464.1:c.805G>A, NM_001012665.1:c.802G>A, NP_057092.2:p.Gly268Arg, NP_001335842.1:p.Gly269Arg, NP_001335841.1:p.Gly268Arg, NP_001180393.1:p.Gly269Arg

Select item 14572954328.

rs1457295432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:43805173 (GRCh38)
2:44032312 (GRCh37)
Canonical SPDI:: NC_000002.12:43805172:A:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43805173A>T, NC_000002.11:g.44032312A>T, NG_053008.1:g.36135A>T, NM_016008.4:c.920A>T, NM_016008.3:c.920A>T, NM_001348913.2:c.923A>T, NM_001348913.1:c.923A>T, NM_001348912.2:c.920A>T, NM_001348912.1:c.920A>T, NM_001193464.2:c.923A>T, NM_001193464.1:c.923A>T, NM_001012665.1:c.920A>T, NP_057092.2:p.Asp307Val, NP_001335842.1:p.Asp308Val, NP_001335841.1:p.Asp307Val, NP_001180393.1:p.Asp308Val

Select item 14560870559.

rs1456087055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:43794593 (GRCh38)
2:44021732 (GRCh37)
Canonical SPDI:: NC_000002.12:43794592:G:A
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43794593G>A, NC_000002.11:g.44021732G>A, NG_053008.1:g.25555G>A, NM_016008.4:c.457G>A, NM_016008.3:c.457G>A, NM_015522.4:c.457G>A, NM_015522.3:c.457G>A, NM_001348913.2:c.457G>A, NM_001348913.1:c.457G>A, NM_001348912.2:c.457G>A, NM_001348912.1:c.457G>A, NM_001193464.2:c.457G>A, NM_001193464.1:c.457G>A, NM_001012665.1:c.457G>A, NP_057092.2:p.Val153Ile, NP_056337.1:p.Val153Ile, NP_001335842.1:p.Val153Ile, NP_001335841.1:p.Val153Ile, NP_001180393.1:p.Val153Ile

Select item 145172872910.

rs1451728729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43787244 (GRCh38)
2:44014383 (GRCh37)
Canonical SPDI:: NC_000002.12:43787243:C:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43787244C>T, NC_000002.11:g.44014383C>T, NG_053008.1:g.18206C>T, NM_016008.4:c.225C>T, NM_016008.3:c.225C>T, NM_015522.4:c.225C>T, NM_015522.3:c.225C>T, NM_001348913.2:c.225C>T, NM_001348913.1:c.225C>T, NM_001348912.2:c.225C>T, NM_001348912.1:c.225C>T, NM_001193464.2:c.225C>T, NM_001193464.1:c.225C>T, NM_001012665.1:c.225C>T

Select item 145147090511.

rs1451470905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:43783547 (GRCh38)
2:44010686 (GRCh37)
Canonical SPDI:: NC_000002.12:43783546:C:A
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.43783547C>A, NC_000002.11:g.44010686C>A, NG_053008.1:g.14509C>A, NM_016008.4:c.154C>A, NM_016008.3:c.154C>A, NM_015522.4:c.154C>A, NM_015522.3:c.154C>A, NM_001348913.2:c.154C>A, NM_001348913.1:c.154C>A, NM_001348912.2:c.154C>A, NM_001348912.1:c.154C>A, NM_001193464.2:c.154C>A, NM_001193464.1:c.154C>A, NM_001012665.1:c.154C>A, NP_057092.2:p.Leu52Ile, NP_056337.1:p.Leu52Ile, NP_001335842.1:p.Leu52Ile, NP_001335841.1:p.Leu52Ile, NP_001180393.1:p.Leu52Ile

Select item 145068141312.

rs1450681413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:43800890 (GRCh38)
2:44028029 (GRCh37)
Canonical SPDI:: NC_000002.12:43800889:A:G
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43800890A>G, NC_000002.11:g.44028029A>G, NG_053008.1:g.31852A>G, NM_016008.4:c.704A>G, NM_016008.3:c.704A>G, NM_001348913.2:c.707A>G, NM_001348913.1:c.707A>G, NM_001348912.2:c.704A>G, NM_001348912.1:c.704A>G, NM_001193464.2:c.707A>G, NM_001193464.1:c.707A>G, NM_001012665.1:c.704A>G, NP_057092.2:p.Asn235Ser, NP_001335842.1:p.Asn236Ser, NP_001335841.1:p.Asn235Ser, NP_001180393.1:p.Asn236Ser

Select item 145067424213.

rs1450674242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:43783527 (GRCh38)
2:44010666 (GRCh37)
Canonical SPDI:: NC_000002.12:43783526:C:G,NC_000002.12:43783526:C:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: missense_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_000002.12:g.43783527C>G, NC_000002.12:g.43783527C>T, NC_000002.11:g.44010666C>G, NC_000002.11:g.44010666C>T, NG_053008.1:g.14489C>G, NG_053008.1:g.14489C>T, NM_016008.4:c.134C>G, NM_016008.4:c.134C>T, NM_016008.3:c.134C>G, NM_016008.3:c.134C>T, NM_015522.4:c.134C>G, NM_015522.4:c.134C>T, NM_015522.3:c.134C>G, NM_015522.3:c.134C>T, NM_001348913.2:c.134C>G, NM_001348913.2:c.134C>T, NM_001348913.1:c.134C>G, NM_001348913.1:c.134C>T, NM_001348912.2:c.134C>G, NM_001348912.2:c.134C>T, NM_001348912.1:c.134C>G, NM_001348912.1:c.134C>T, NM_001193464.2:c.134C>G, NM_001193464.2:c.134C>T, NM_001193464.1:c.134C>G, NM_001193464.1:c.134C>T, NM_001012665.1:c.134C>G, NM_001012665.1:c.134C>T, NP_057092.2:p.Thr45Ser, NP_057092.2:p.Thr45Ile, NP_056337.1:p.Thr45Ser, NP_056337.1:p.Thr45Ile, NP_001335842.1:p.Thr45Ser, NP_001335842.1:p.Thr45Ile, NP_001335841.1:p.Thr45Ser, NP_001335841.1:p.Thr45Ile, NP_001180393.1:p.Thr45Ser, NP_001180393.1:p.Thr45Ile

Select item 145011487614.

rs1450114876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:43800882 (GRCh38)
2:44028021 (GRCh37)
Canonical SPDI:: NC_000002.12:43800881:A:C,NC_000002.12:43800881:A:G
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.43800882A>C, NC_000002.12:g.43800882A>G, NC_000002.11:g.44028021A>C, NC_000002.11:g.44028021A>G, NG_053008.1:g.31844A>C, NG_053008.1:g.31844A>G, NM_016008.4:c.696A>C, NM_016008.4:c.696A>G, NM_016008.3:c.696A>C, NM_016008.3:c.696A>G, NM_001348913.2:c.699A>C, NM_001348913.2:c.699A>G, NM_001348913.1:c.699A>C, NM_001348913.1:c.699A>G, NM_001348912.2:c.696A>C, NM_001348912.2:c.696A>G, NM_001348912.1:c.696A>C, NM_001348912.1:c.696A>G, NM_001193464.2:c.699A>C, NM_001193464.2:c.699A>G, NM_001193464.1:c.699A>C, NM_001193464.1:c.699A>G, NM_001012665.1:c.696A>C, NM_001012665.1:c.696A>G

Select item 144706995915.

rs1447069959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:43794501 (GRCh38)
2:44021640 (GRCh37)
Canonical SPDI:: NC_000002.12:43794500:A:G,NC_000002.12:43794500:A:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000002.12:g.43794501A>G, NC_000002.12:g.43794501A>T, NC_000002.11:g.44021640A>G, NC_000002.11:g.44021640A>T, NG_053008.1:g.25463A>G, NG_053008.1:g.25463A>T, NM_016008.4:c.365A>G, NM_016008.4:c.365A>T, NM_016008.3:c.365A>G, NM_016008.3:c.365A>T, NM_015522.4:c.365A>G, NM_015522.4:c.365A>T, NM_015522.3:c.365A>G, NM_015522.3:c.365A>T, NM_001348913.2:c.365A>G, NM_001348913.2:c.365A>T, NM_001348913.1:c.365A>G, NM_001348913.1:c.365A>T, NM_001348912.2:c.365A>G, NM_001348912.2:c.365A>T, NM_001348912.1:c.365A>G, NM_001348912.1:c.365A>T, NM_001193464.2:c.365A>G, NM_001193464.2:c.365A>T, NM_001193464.1:c.365A>G, NM_001193464.1:c.365A>T, NM_001012665.1:c.365A>G, NM_001012665.1:c.365A>T, NP_057092.2:p.Asp122Gly, NP_057092.2:p.Asp122Val, NP_056337.1:p.Asp122Gly, NP_056337.1:p.Asp122Val, NP_001335842.1:p.Asp122Gly, NP_001335842.1:p.Asp122Val, NP_001335841.1:p.Asp122Gly, NP_001335841.1:p.Asp122Val, NP_001180393.1:p.Asp122Gly, NP_001180393.1:p.Asp122Val

Select item 144592421116.

rs1445924211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:43796737 (GRCh38)
2:44023876 (GRCh37)
Canonical SPDI:: NC_000002.12:43796736:G:T
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43796737G>T, NC_000002.11:g.44023876G>T, NG_053008.1:g.27699G>T, NM_016008.4:c.596G>T, NM_016008.3:c.596G>T, NM_001348913.2:c.599G>T, NM_001348913.1:c.599G>T, NM_001348912.2:c.596G>T, NM_001348912.1:c.596G>T, NM_001193464.2:c.599G>T, NM_001193464.1:c.599G>T, NM_001012665.1:c.596G>T, NP_057092.2:p.Arg199Ile, NP_001335842.1:p.Arg200Ile, NP_001335841.1:p.Arg199Ile, NP_001180393.1:p.Arg200Ile

Select item 144385744517.

rs1443857445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:43783550 (GRCh38)
2:44010689 (GRCh37)
Canonical SPDI:: NC_000002.12:43783549:G:A,NC_000002.12:43783549:G:C
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.43783550G>A, NC_000002.12:g.43783550G>C, NC_000002.11:g.44010689G>A, NC_000002.11:g.44010689G>C, NG_053008.1:g.14512G>A, NG_053008.1:g.14512G>C, NM_016008.4:c.157G>A, NM_016008.4:c.157G>C, NM_016008.3:c.157G>A, NM_016008.3:c.157G>C, NM_015522.4:c.157G>A, NM_015522.4:c.157G>C, NM_015522.3:c.157G>A, NM_015522.3:c.157G>C, NM_001348913.2:c.157G>A, NM_001348913.2:c.157G>C, NM_001348913.1:c.157G>A, NM_001348913.1:c.157G>C, NM_001348912.2:c.157G>A, NM_001348912.2:c.157G>C, NM_001348912.1:c.157G>A, NM_001348912.1:c.157G>C, NM_001193464.2:c.157G>A, NM_001193464.2:c.157G>C, NM_001193464.1:c.157G>A, NM_001193464.1:c.157G>C, NM_001012665.1:c.157G>A, NM_001012665.1:c.157G>C, NP_057092.2:p.Asp53Asn, NP_057092.2:p.Asp53His, NP_056337.1:p.Asp53Asn, NP_056337.1:p.Asp53His, NP_001335842.1:p.Asp53Asn, NP_001335842.1:p.Asp53His, NP_001335841.1:p.Asp53Asn, NP_001335841.1:p.Asp53His, NP_001180393.1:p.Asp53Asn, NP_001180393.1:p.Asp53His

Select item 144239842318.

rs1442398423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:43776849 (GRCh38)
2:44003988 (GRCh37)
Canonical SPDI:: NC_000002.12:43776848:G:A
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.43776849G>A, NC_000002.11:g.44003988G>A, NG_053008.1:g.7811G>A, NM_016008.4:c.76G>A, NM_016008.3:c.76G>A, NM_015522.4:c.76G>A, NM_015522.3:c.76G>A, NM_001348913.2:c.76G>A, NM_001348913.1:c.76G>A, NM_001348912.2:c.76G>A, NM_001348912.1:c.76G>A, NM_001193464.2:c.76G>A, NM_001193464.1:c.76G>A, NM_001012665.1:c.76G>A, NP_057092.2:p.Gly26Arg, NP_056337.1:p.Gly26Arg, NP_001335842.1:p.Gly26Arg, NP_001335841.1:p.Gly26Arg, NP_001180393.1:p.Gly26Arg

Select item 144004197719.

rs1440041977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:43776791 (GRCh38)
2:44003930 (GRCh37)
Canonical SPDI:: NC_000002.12:43776790:C:G
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.43776791C>G, NC_000002.11:g.44003930C>G, NG_053008.1:g.7753C>G, NM_016008.4:c.18C>G, NM_016008.3:c.18C>G, NM_015522.4:c.18C>G, NM_015522.3:c.18C>G, NM_001348913.2:c.18C>G, NM_001348913.1:c.18C>G, NM_001348912.2:c.18C>G, NM_001348912.1:c.18C>G, NM_001193464.2:c.18C>G, NM_001193464.1:c.18C>G, NM_001012665.1:c.18C>G

Select item 143568995220.

rs1435689952 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:43776791 (GRCh38)
2:44003930 (GRCh37)
Canonical SPDI:: NC_000002.12:43776786:CTCTCT:CTCT
Gene:: DYNC2LI1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000009/2 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.43776787CT[2], NC_000002.11:g.44003926CT[2], NG_053008.1:g.7749CT[2], NM_016008.4:c.18_19del, NM_016008.3:c.18_19del, NM_015522.4:c.18_19del, NM_015522.3:c.18_19del, NM_001348913.2:c.18_19del, NM_001348913.1:c.18_19del, NM_001348912.2:c.18_19del, NM_001348912.1:c.18_19del, NM_001193464.2:c.18_19del, NM_001193464.1:c.18_19del, NM_001012665.1:c.18_19del, NP_057092.2:p.Trp7fs, NP_056337.1:p.Trp7fs, NP_001335842.1:p.Trp7fs, NP_001335841.1:p.Trp7fs, NP_001180393.1:p.Trp7fs

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