SNP Links for Protein (Select 24308408) - SNP

Links from Protein

Items: 1 to 20 of 330

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Select item 14909281611.

rs1490928161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23237173 (GRCh38)
18:20817137 (GRCh37)
Canonical SPDI:: NC_000018.10:23237172:C:T
Gene:: CABLES1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23237173C>T, NC_000018.9:g.20817137C>T, NM_001100619.3:c.1374C>T, NM_001100619.2:c.1374C>T, NM_138375.3:c.579C>T, NM_138375.2:c.579C>T, NM_001256438.1:c.393C>T

Select item 14905373042.

rs1490537304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:23194526 (GRCh38)
18:20774490 (GRCh37)
Canonical SPDI:: NC_000018.10:23194525:T:A
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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_000018.10:g.23194526T>A, NC_000018.9:g.20774490T>A, NM_001100619.3:c.996T>A, NM_001100619.2:c.996T>A, NM_138375.3:c.201T>A, NM_138375.2:c.201T>A, NR_023359.2:n.239T>A, NR_023359.1:n.239T>A, NM_001256438.1:c.15T>A, NP_001094089.1:p.Asp332Glu, NP_612384.1:p.Asp67Glu, NP_001243367.1:p.Asp5Glu

Select item 14904116913.

rs1490411691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23257324 (GRCh38)
18:20837288 (GRCh37)
Canonical SPDI:: NC_000018.10:23257323:A:G
Gene:: TMEM241 (Varview), CABLES1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23257324A>G, NC_000018.9:g.20837288A>G, NM_001100619.3:c.1859A>G, NM_001100619.2:c.1859A>G, NM_138375.3:c.1064A>G, NM_138375.2:c.1064A>G, NR_023359.2:n.744A>G, NR_023359.1:n.744A>G, NM_001256438.1:c.878A>G, NP_001094089.1:p.His620Arg, NP_612384.1:p.His355Arg, NP_001243367.1:p.His293Arg

Select item 14850584434.

rs1485058443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23188847 (GRCh38)
18:20768811 (GRCh37)
Canonical SPDI:: NC_000018.10:23188846:C:T
Gene:: CABLES1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23188847C>T, NC_000018.9:g.20768811C>T, NM_001100619.3:c.855C>T, NM_001100619.2:c.855C>T, NM_138375.3:c.60C>T, NM_138375.2:c.60C>T, NR_023359.2:n.98C>T, NR_023359.1:n.98C>T, NM_001256438.1:c.-127C>T

Select item 14817489055.

rs1481748905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23235959 (GRCh38)
18:20815923 (GRCh37)
Canonical SPDI:: NC_000018.10:23235958:A:G
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23235959A>G, NC_000018.9:g.20815923A>G, NM_001100619.3:c.1250A>G, NM_001100619.2:c.1250A>G, NM_138375.3:c.455A>G, NM_138375.2:c.455A>G, NM_001256438.1:c.269A>G, NP_001094089.1:p.Asp417Gly, NP_612384.1:p.Asp152Gly, NP_001243367.1:p.Asp90Gly

Select item 14773605676.

rs1477360567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23214016 (GRCh38)
18:20793980 (GRCh37)
Canonical SPDI:: NC_000018.10:23214015:A:G
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23214016A>G, NC_000018.9:g.20793980A>G, NM_001100619.3:c.1050A>G, NM_001100619.2:c.1050A>G, NM_138375.3:c.255A>G, NM_138375.2:c.255A>G, NR_023359.2:n.293A>G, NR_023359.1:n.293A>G, NM_001256438.1:c.69A>G, NP_001094089.1:p.Ile350Met, NP_612384.1:p.Ile85Met, NP_001243367.1:p.Ile23Met

Select item 14734270147.

rs1473427014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:23194477 (GRCh38)
18:20774441 (GRCh37)
Canonical SPDI:: NC_000018.10:23194476:C:G
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23194477C>G, NC_000018.9:g.20774441C>G, NM_001100619.3:c.947C>G, NM_001100619.2:c.947C>G, NM_138375.3:c.152C>G, NM_138375.2:c.152C>G, NR_023359.2:n.190C>G, NR_023359.1:n.190C>G, NM_001256438.1:c.-35C>G, NP_001094089.1:p.Pro316Arg, NP_612384.1:p.Pro51Arg

Select item 14702176688.

rs1470217668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23234642 (GRCh38)
18:20814606 (GRCh37)
Canonical SPDI:: NC_000018.10:23234641:G:A
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.23234642G>A, NC_000018.9:g.20814606G>A, NM_001100619.3:c.1123G>A, NM_001100619.2:c.1123G>A, NM_138375.3:c.328G>A, NM_138375.2:c.328G>A, NM_001256438.1:c.142G>A, NP_001094089.1:p.Gly375Ser, NP_612384.1:p.Gly110Ser, NP_001243367.1:p.Gly48Ser

Select item 14654571099.

rs1465457109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23236033 (GRCh38)
18:20815997 (GRCh37)
Canonical SPDI:: NC_000018.10:23236032:C:T
Gene:: CABLES1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.23236033C>T, NC_000018.9:g.20815997C>T, NM_001100619.3:c.1324C>T, NM_001100619.2:c.1324C>T, NM_138375.3:c.529C>T, NM_138375.2:c.529C>T, NM_001256438.1:c.343C>T, NP_001094089.1:p.Gln442Ter, NP_612384.1:p.Gln177Ter, NP_001243367.1:p.Gln115Ter

Select item 146459856410.

rs1464598564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23213994 (GRCh38)
18:20793958 (GRCh37)
Canonical SPDI:: NC_000018.10:23213993:G:A
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23213994G>A, NC_000018.9:g.20793958G>A, NM_001100619.3:c.1028G>A, NM_001100619.2:c.1028G>A, NM_138375.3:c.233G>A, NM_138375.2:c.233G>A, NR_023359.2:n.271G>A, NR_023359.1:n.271G>A, NM_001256438.1:c.47G>A, NP_001094089.1:p.Gly343Asp, NP_612384.1:p.Gly78Asp, NP_001243367.1:p.Gly16Asp

Select item 146418237611.

rs1464182376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23237195 (GRCh38)
18:20817159 (GRCh37)
Canonical SPDI:: NC_000018.10:23237194:C:T
Gene:: CABLES1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23237195C>T, NC_000018.9:g.20817159C>T, NM_001100619.3:c.1396C>T, NM_001100619.2:c.1396C>T, NM_138375.3:c.601C>T, NM_138375.2:c.601C>T, NM_001256438.1:c.415C>T, NP_001094089.1:p.Gln466Ter, NP_612384.1:p.Gln201Ter, NP_001243367.1:p.Gln139Ter

Select item 146223927712.

rs1462239277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:23253041 (GRCh38)
18:20833005 (GRCh37)
Canonical SPDI:: NC_000018.10:23253040:A:C,NC_000018.10:23253040:A:G
Gene:: TMEM241 (Varview), CABLES1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23253041A>C, NC_000018.10:g.23253041A>G, NC_000018.9:g.20833005A>C, NC_000018.9:g.20833005A>G, NM_001100619.3:c.1528A>C, NM_001100619.3:c.1528A>G, NM_001100619.2:c.1528A>C, NM_001100619.2:c.1528A>G, NM_138375.3:c.733A>C, NM_138375.3:c.733A>G, NM_138375.2:c.733A>C, NM_138375.2:c.733A>G, NR_023359.2:n.413A>C, NR_023359.2:n.413A>G, NR_023359.1:n.413A>C, NR_023359.1:n.413A>G, NM_001256438.1:c.547A>C, NM_001256438.1:c.547A>G, NP_001094089.1:p.Lys510Gln, NP_001094089.1:p.Lys510Glu, NP_612384.1:p.Lys245Gln, NP_612384.1:p.Lys245Glu, NP_001243367.1:p.Lys183Gln, NP_001243367.1:p.Lys183Glu

Select item 146017942813.

rs1460179428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23253803 (GRCh38)
18:20833767 (GRCh37)
Canonical SPDI:: NC_000018.10:23253802:T:C
Gene:: TMEM241 (Varview), CABLES1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23253803T>C, NC_000018.9:g.20833767T>C, NM_001100619.3:c.1628T>C, NM_001100619.2:c.1628T>C, NM_138375.3:c.833T>C, NM_138375.2:c.833T>C, NR_023359.2:n.513T>C, NR_023359.1:n.513T>C, NM_001256438.1:c.647T>C, NP_001094089.1:p.Val543Ala, NP_612384.1:p.Val278Ala, NP_001243367.1:p.Val216Ala

Select item 145131286814.

rs1451312868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:23188892 (GRCh38)
18:20768856 (GRCh37)
Canonical SPDI:: NC_000018.10:23188891:G:C
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23188892G>C, NC_000018.9:g.20768856G>C, NM_001100619.3:c.900G>C, NM_001100619.2:c.900G>C, NM_138375.3:c.105G>C, NM_138375.2:c.105G>C, NR_023359.2:n.143G>C, NR_023359.1:n.143G>C, NM_001256438.1:c.-82G>C, NP_001094089.1:p.Glu300Asp, NP_612384.1:p.Glu35Asp

Select item 144637808715.

rs1446378087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23236034 (GRCh38)
18:20815998 (GRCh37)
Canonical SPDI:: NC_000018.10:23236033:A:G
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.23236034A>G, NC_000018.9:g.20815998A>G, NM_001100619.3:c.1325A>G, NM_001100619.2:c.1325A>G, NM_138375.3:c.530A>G, NM_138375.2:c.530A>G, NM_001256438.1:c.344A>G, NP_001094089.1:p.Gln442Arg, NP_612384.1:p.Gln177Arg, NP_001243367.1:p.Gln115Arg

Select item 144585923116.

rs1445859231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23155926 (GRCh38)
18:20735890 (GRCh37)
Canonical SPDI:: NC_000018.10:23155925:T:C
Gene:: CABLES1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.23155926T>C, NC_000018.9:g.20735890T>C, NM_138375.3:c.24T>C, NM_138375.2:c.24T>C

Select item 144526259717.

rs1445262597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:23235971 (GRCh38)
18:20815935 (GRCh37)
Canonical SPDI:: NC_000018.10:23235970:C:G
Gene:: CABLES1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.23235971C>G, NC_000018.9:g.20815935C>G, NM_001100619.3:c.1262C>G, NM_001100619.2:c.1262C>G, NM_138375.3:c.467C>G, NM_138375.2:c.467C>G, NM_001256438.1:c.281C>G, NP_001094089.1:p.Ser421Cys, NP_612384.1:p.Ser156Cys, NP_001243367.1:p.Ser94Cys

Select item 144393289618.

rs1443932896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23235990 (GRCh38)
18:20815954 (GRCh37)
Canonical SPDI:: NC_000018.10:23235989:C:T
Gene:: CABLES1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23235990C>T, NC_000018.9:g.20815954C>T, NM_001100619.3:c.1281C>T, NM_001100619.2:c.1281C>T, NM_138375.3:c.486C>T, NM_138375.2:c.486C>T, NM_001256438.1:c.300C>T

Select item 144369561619.

rs1443695616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23188883 (GRCh38)
18:20768847 (GRCh37)
Canonical SPDI:: NC_000018.10:23188882:T:C
Gene:: CABLES1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.23188883T>C, NC_000018.9:g.20768847T>C, NM_001100619.3:c.891T>C, NM_001100619.2:c.891T>C, NM_138375.3:c.96T>C, NM_138375.2:c.96T>C, NR_023359.2:n.134T>C, NR_023359.1:n.134T>C, NM_001256438.1:c.-91T>C

Select item 144307515920.

rs1443075159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23257359 (GRCh38)
18:20837323 (GRCh37)
Canonical SPDI:: NC_000018.10:23257358:A:G
Gene:: TMEM241 (Varview), CABLES1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23257359A>G, NC_000018.9:g.20837323A>G, NM_001100619.3:c.1894A>G, NM_001100619.2:c.1894A>G, NM_138375.3:c.1099A>G, NM_138375.2:c.1099A>G, NR_023359.2:n.779A>G, NR_023359.1:n.779A>G, NM_001256438.1:c.913A>G, NP_001094089.1:p.Ser632Gly, NP_612384.1:p.Ser367Gly, NP_001243367.1:p.Ser305Gly

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