SNP Links for Protein (Select 25306275) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66436838 (GRCh38)
11:66204309 (GRCh37)
Canonical SPDI:: NC_000011.10:66436837:C:T
Gene:: MRPL11 (Varview)
Functional Consequence:: intron_variant,terminator_codon_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000034/9 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000011.10:g.66436838C>T, NC_000011.9:g.66204309C>T, NM_170739.4:c.545G>A, NM_170739.3:c.545G>A, NM_170739.2:c.545G>A, XM_017018135.3:c.467G>A, XM_017018135.2:c.467G>A, XM_017018135.1:c.467G>A

Select item 14370289518.

rs1437028951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66438700 (GRCh38)
11:66206171 (GRCh37)
Canonical SPDI:: NC_000011.10:66438699:C:G
Gene:: MRPL11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66438700C>G, NC_000011.9:g.66206171C>G, NM_016050.5:c.55G>C, NM_016050.4:c.55G>C, NM_016050.3:c.55G>C, NM_170739.4:c.55G>C, NM_170739.3:c.55G>C, NM_170739.2:c.55G>C, NR_120588.1:n.149G>C, NP_057134.1:p.Val19Leu, NP_733935.1:p.Val19Leu

Select item 14360274929.

rs1436027492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66437203 (GRCh38)
11:66204674 (GRCh37)
Canonical SPDI:: NC_000011.10:66437202:G:A
Gene:: MRPL11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66437203G>A, NC_000011.9:g.66204674G>A, NM_016050.5:c.374C>T, NM_016050.4:c.374C>T, NM_016050.3:c.374C>T, NM_170739.4:c.374C>T, NM_170739.3:c.374C>T, NM_170739.2:c.374C>T, NM_170738.4:c.296C>T, NM_170738.3:c.296C>T, NM_170738.2:c.296C>T, XM_017018135.3:c.296C>T, XM_017018135.2:c.296C>T, XM_017018135.1:c.296C>T, NR_120588.1:n.460C>T, NR_120589.1:n.318C>T, NP_057134.1:p.Ala125Val, NP_733935.1:p.Ala125Val, NP_733934.1:p.Ala99Val, XP_016873624.1:p.Ala99Val

Select item 143154889910.

rs1431548899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66437398 (GRCh38)
11:66204869 (GRCh37)
Canonical SPDI:: NC_000011.10:66437397:A:G
Gene:: MRPL11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66437398A>G, NC_000011.9:g.66204869A>G, NM_016050.5:c.265T>C, NM_016050.4:c.265T>C, NM_016050.3:c.265T>C, NM_170739.4:c.265T>C, NM_170739.3:c.265T>C, NM_170739.2:c.265T>C, NM_170738.4:c.187T>C, NM_170738.3:c.187T>C, NM_170738.2:c.187T>C, XM_017018135.3:c.187T>C, XM_017018135.2:c.187T>C, XM_017018135.1:c.187T>C, NR_120588.1:n.351T>C, NR_120589.1:n.209T>C, NP_057134.1:p.Tyr89His, NP_733935.1:p.Tyr89His, NP_733934.1:p.Tyr63His, XP_016873624.1:p.Tyr63His

Select item 142770805411.

rs1427708054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66437162 (GRCh38)
11:66204633 (GRCh37)
Canonical SPDI:: NC_000011.10:66437161:A:G
Gene:: MRPL11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66437162A>G, NC_000011.9:g.66204633A>G, NM_016050.5:c.415T>C, NM_016050.4:c.415T>C, NM_016050.3:c.415T>C, NM_170739.4:c.415T>C, NM_170739.3:c.415T>C, NM_170739.2:c.415T>C, NM_170738.4:c.337T>C, NM_170738.3:c.337T>C, NM_170738.2:c.337T>C, XM_017018135.3:c.337T>C, XM_017018135.2:c.337T>C, XM_017018135.1:c.337T>C, NR_120588.1:n.501T>C, NR_120589.1:n.359T>C, NP_057134.1:p.Ser139Pro, NP_733935.1:p.Ser139Pro, NP_733934.1:p.Ser113Pro, XP_016873624.1:p.Ser113Pro

Select item 142608470512.

rs1426084705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66437261 (GRCh38)
11:66204732 (GRCh37)
Canonical SPDI:: NC_000011.10:66437260:T:C
Gene:: MRPL11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_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_000011.10:g.66437261T>C, NC_000011.9:g.66204732T>C, NM_016050.5:c.316A>G, NM_016050.4:c.316A>G, NM_016050.3:c.316A>G, NM_170739.4:c.316A>G, NM_170739.3:c.316A>G, NM_170739.2:c.316A>G, NM_170738.4:c.238A>G, NM_170738.3:c.238A>G, NM_170738.2:c.238A>G, XM_017018135.3:c.238A>G, XM_017018135.2:c.238A>G, XM_017018135.1:c.238A>G, NR_120588.1:n.402A>G, NR_120589.1:n.260A>G, NP_057134.1:p.Lys106Glu, NP_733935.1:p.Lys106Glu, NP_733934.1:p.Lys80Glu, XP_016873624.1:p.Lys80Glu

Select item 141772264713.

rs1417722647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66437191 (GRCh38)
11:66204662 (GRCh37)
Canonical SPDI:: NC_000011.10:66437190:G:A
Gene:: MRPL11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66437191G>A, NC_000011.9:g.66204662G>A, NM_016050.5:c.386C>T, NM_016050.4:c.386C>T, NM_016050.3:c.386C>T, NM_170739.4:c.386C>T, NM_170739.3:c.386C>T, NM_170739.2:c.386C>T, NM_170738.4:c.308C>T, NM_170738.3:c.308C>T, NM_170738.2:c.308C>T, XM_017018135.3:c.308C>T, XM_017018135.2:c.308C>T, XM_017018135.1:c.308C>T, NR_120588.1:n.472C>T, NR_120589.1:n.330C>T, NP_057134.1:p.Ala129Val, NP_733935.1:p.Ala129Val, NP_733934.1:p.Ala103Val, XP_016873624.1:p.Ala103Val

Select item 141691679514.

rs1416916795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66437355 (GRCh38)
11:66204826 (GRCh37)
Canonical SPDI:: NC_000011.10:66437354:T:C
Gene:: MRPL11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66437355T>C, NC_000011.9:g.66204826T>C, NM_016050.5:c.308A>G, NM_016050.4:c.308A>G, NM_016050.3:c.308A>G, NM_170739.4:c.308A>G, NM_170739.3:c.308A>G, NM_170739.2:c.308A>G, NM_170738.4:c.230A>G, NM_170738.3:c.230A>G, NM_170738.2:c.230A>G, XM_017018135.3:c.230A>G, XM_017018135.2:c.230A>G, XM_017018135.1:c.230A>G, NR_120588.1:n.394A>G, NR_120589.1:n.252A>G, NP_057134.1:p.Gln103Arg, NP_733935.1:p.Gln103Arg, NP_733934.1:p.Gln77Arg, XP_016873624.1:p.Gln77Arg

Select item 141193558615.

rs1411935586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66438732 (GRCh38)
11:66206203 (GRCh37)
Canonical SPDI:: NC_000011.10:66438731:G:A
Gene:: MRPL11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_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_000011.10:g.66438732G>A, NC_000011.9:g.66206203G>A, NM_016050.5:c.23C>T, NM_016050.4:c.23C>T, NM_016050.3:c.23C>T, NM_170739.4:c.23C>T, NM_170739.3:c.23C>T, NM_170739.2:c.23C>T, NM_170738.4:c.23C>T, NM_170738.3:c.23C>T, NM_170738.2:c.23C>T, XM_017018135.3:c.23C>T, XM_017018135.2:c.23C>T, XM_017018135.1:c.23C>T, NR_120588.1:n.117C>T, NP_057134.1:p.Ala8Val, NP_733935.1:p.Ala8Val, NP_733934.1:p.Ala8Val, XP_016873624.1:p.Ala8Val

Select item 140246144316.

rs1402461443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:66436857 (GRCh38)
11:66204328 (GRCh37)
Canonical SPDI:: NC_000011.10:66436856:T:G
Gene:: MRPL11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66436857T>G, NC_000011.9:g.66204328T>G, NM_170739.4:c.526A>C, NM_170739.3:c.526A>C, NM_170739.2:c.526A>C, XM_017018135.3:c.448A>C, XM_017018135.2:c.448A>C, XM_017018135.1:c.448A>C, NP_733935.1:p.Ser176Arg, XP_016873624.1:p.Ser150Arg

Select item 140092284717.

rs1400922847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66437150 (GRCh38)
11:66204621 (GRCh37)
Canonical SPDI:: NC_000011.10:66437149:A:G
Gene:: MRPL11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66437150A>G, NC_000011.9:g.66204621A>G, NM_016050.5:c.427T>C, NM_016050.4:c.427T>C, NM_016050.3:c.427T>C, NM_170739.4:c.427T>C, NM_170739.3:c.427T>C, NM_170739.2:c.427T>C, NM_170738.4:c.349T>C, NM_170738.3:c.349T>C, NM_170738.2:c.349T>C, XM_017018135.3:c.349T>C, XM_017018135.2:c.349T>C, XM_017018135.1:c.349T>C, NR_120588.1:n.513T>C, NR_120589.1:n.371T>C, NP_057134.1:p.Ser143Pro, NP_733935.1:p.Ser143Pro, NP_733934.1:p.Ser117Pro, XP_016873624.1:p.Ser117Pro

Select item 139173998618.

rs1391739986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66437168 (GRCh38)
11:66204639 (GRCh37)
Canonical SPDI:: NC_000011.10:66437167:G:A
Gene:: MRPL11 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66437168G>A, NC_000011.9:g.66204639G>A, NM_016050.5:c.409C>T, NM_016050.4:c.409C>T, NM_016050.3:c.409C>T, NM_170739.4:c.409C>T, NM_170739.3:c.409C>T, NM_170739.2:c.409C>T, NM_170738.4:c.331C>T, NM_170738.3:c.331C>T, NM_170738.2:c.331C>T, XM_017018135.3:c.331C>T, XM_017018135.2:c.331C>T, XM_017018135.1:c.331C>T, NR_120588.1:n.495C>T, NR_120589.1:n.353C>T

Select item 138641778419.

rs1386417784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:66438690 (GRCh38)
11:66206161 (GRCh37)
Canonical SPDI:: NC_000011.10:66438689:G:T
Gene:: MRPL11 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.66438690G>T, NC_000011.9:g.66206161G>T, NM_016050.5:c.65C>A, NM_016050.4:c.65C>A, NM_016050.3:c.65C>A, NM_170739.4:c.65C>A, NM_170739.3:c.65C>A, NM_170739.2:c.65C>A, NR_120588.1:n.159C>A, NP_057134.1:p.Ala22Glu, NP_733935.1:p.Ala22Glu

Select item 138570980320.

rs1385709803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:66438647 (GRCh38)
11:66206118 (GRCh37)
Canonical SPDI:: NC_000011.10:66438646:G:A,NC_000011.10:66438646:G:C
Gene:: MRPL11 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66438647G>A, NC_000011.10:g.66438647G>C, NC_000011.9:g.66206118G>A, NC_000011.9:g.66206118G>C, NM_016050.5:c.108C>T, NM_016050.5:c.108C>G, NM_016050.4:c.108C>T, NM_016050.4:c.108C>G, NM_016050.3:c.108C>T, NM_016050.3:c.108C>G, NM_170739.4:c.108C>T, NM_170739.4:c.108C>G, NM_170739.3:c.108C>T, NM_170739.3:c.108C>G, NM_170739.2:c.108C>T, NM_170739.2:c.108C>G, NR_120588.1:n.202C>T, NR_120588.1:n.202C>G

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