SNP Links for Protein (Select 530392053) - SNP

Links from Protein

Items: 1 to 20 of 124

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Select item 14863071921.

rs1486307192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:18674047 (GRCh38)
10:18962976 (GRCh37)
Canonical SPDI:: NC_000010.11:18674046:G:A
Gene:: ARL5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.18674047G>A, NC_000010.10:g.18962976G>A, NM_178815.5:c.403G>A, NM_178815.4:c.403G>A, NM_178815.3:c.403G>A, XM_005252401.5:c.292G>A, XM_005252401.4:c.292G>A, XM_005252401.3:c.292G>A, XM_005252401.2:c.292G>A, XM_005252401.1:c.292G>A, XM_005252400.2:c.319G>A, XM_005252400.1:c.319G>A, NP_848930.1:p.Ala135Thr, XP_005252458.1:p.Ala98Thr, XP_005252457.1:p.Ala107Thr

Select item 14820047382.

rs1482004738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:18668536 (GRCh38)
10:18957465 (GRCh37)
Canonical SPDI:: NC_000010.11:18668535:G:A
Gene:: ARL5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.18668536G>A, NC_000010.10:g.18957465G>A, NM_178815.5:c.114G>A, NM_178815.4:c.114G>A, NM_178815.3:c.114G>A, XM_005252401.5:c.3G>A, XM_005252401.4:c.3G>A, XM_005252401.3:c.3G>A, XM_005252401.2:c.3G>A, XM_005252401.1:c.3G>A, XM_005252400.2:c.114G>A, XM_005252400.1:c.114G>A, NP_848930.1:p.Met38Ile, XP_005252458.1:p.Met1Ile, XP_005252457.1:p.Met38Ile

Select item 14612090723.

rs1461209072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:18659656 (GRCh38)
10:18948585 (GRCh37)
Canonical SPDI:: NC_000010.11:18659655:A:G
Gene:: NSUN6 (Varview), ARL5B (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.18659656A>G, NC_000010.10:g.18948585A>G, NM_178815.5:c.19A>G, NM_178815.4:c.19A>G, NM_178815.3:c.19A>G, XM_005252400.2:c.19A>G, XM_005252400.1:c.19A>G, NP_848930.1:p.Lys7Glu, XP_005252457.1:p.Lys7Glu

Select item 14476045384.

rs1447604538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:18675177 (GRCh38)
10:18964106 (GRCh37)
Canonical SPDI:: NC_000010.11:18675176:A:G
Gene:: ARL5B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.18675177A>G, NC_000010.10:g.18964106A>G, NM_178815.5:c.501A>G, NM_178815.4:c.501A>G, NM_178815.3:c.501A>G, XM_005252401.5:c.390A>G, XM_005252401.4:c.390A>G, XM_005252401.3:c.390A>G, XM_005252401.2:c.390A>G, XM_005252401.1:c.390A>G, XM_005252400.2:c.417A>G, XM_005252400.1:c.417A>G

Select item 14352858545.

rs1435285854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:18674100 (GRCh38)
10:18963029 (GRCh37)
Canonical SPDI:: NC_000010.11:18674099:G:A
Gene:: ARL5B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.18674100G>A, NC_000010.10:g.18963029G>A, NM_178815.5:c.456G>A, NM_178815.4:c.456G>A, NM_178815.3:c.456G>A, XM_005252401.5:c.345G>A, XM_005252401.4:c.345G>A, XM_005252401.3:c.345G>A, XM_005252401.2:c.345G>A, XM_005252401.1:c.345G>A, XM_005252400.2:c.372G>A, XM_005252400.1:c.372G>A, NP_848930.1:p.Trp152Ter, XP_005252458.1:p.Trp115Ter, XP_005252457.1:p.Trp124Ter

Select item 14306818696.

rs1430681869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:18659648 (GRCh38)
10:18948577 (GRCh37)
Canonical SPDI:: NC_000010.11:18659647:T:C
Gene:: NSUN6 (Varview), ARL5B (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.18659648T>C, NC_000010.10:g.18948577T>C, NM_178815.5:c.11T>C, NM_178815.4:c.11T>C, NM_178815.3:c.11T>C, XM_005252400.2:c.11T>C, XM_005252400.1:c.11T>C, NP_848930.1:p.Ile4Thr, XP_005252457.1:p.Ile4Thr

Select item 14224699997.

rs1422469999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:18666589 (GRCh38)
10:18955518 (GRCh37)
Canonical SPDI:: NC_000010.11:18666588:A:T
Gene:: ARL5B (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.18666589A>T, NC_000010.10:g.18955518A>T, NM_178815.5:c.61A>T, NM_178815.4:c.61A>T, NM_178815.3:c.61A>T, XM_005252401.5:c.-51A>T, XM_005252401.4:c.-51A>T, XM_005252401.3:c.-51A>T, XM_005252401.2:c.-51A>T, XM_005252401.1:c.-51A>T, XM_005252400.2:c.61A>T, XM_005252400.1:c.61A>T, NP_848930.1:p.Ile21Leu, XP_005252457.1:p.Ile21Leu

Select item 14220820618.

rs1422082061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:18668622 (GRCh38)
10:18957551 (GRCh37)
Canonical SPDI:: NC_000010.11:18668621:T:C
Gene:: ARL5B (Varview)
Functional Consequence:: missense_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_000010.11:g.18668622T>C, NC_000010.10:g.18957551T>C, NM_178815.5:c.200T>C, NM_178815.4:c.200T>C, NM_178815.3:c.200T>C, XM_005252401.5:c.89T>C, XM_005252401.4:c.89T>C, XM_005252401.3:c.89T>C, XM_005252401.2:c.89T>C, XM_005252401.1:c.89T>C, XM_005252400.2:c.200T>C, XM_005252400.1:c.200T>C, NP_848930.1:p.Ile67Thr, XP_005252458.1:p.Ile30Thr, XP_005252457.1:p.Ile67Thr

Select item 14218766489.

rs1421876648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:18668552 (GRCh38)
10:18957481 (GRCh37)
Canonical SPDI:: NC_000010.11:18668551:A:G
Gene:: ARL5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.18668552A>G, NC_000010.10:g.18957481A>G, NM_178815.5:c.130A>G, NM_178815.4:c.130A>G, NM_178815.3:c.130A>G, XM_005252401.5:c.19A>G, XM_005252401.4:c.19A>G, XM_005252401.3:c.19A>G, XM_005252401.2:c.19A>G, XM_005252401.1:c.19A>G, XM_005252400.2:c.130A>G, XM_005252400.1:c.130A>G, NP_848930.1:p.Thr44Ala, XP_005252458.1:p.Thr7Ala, XP_005252457.1:p.Thr44Ala

Select item 142164985710.

rs1421649857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:18674056 (GRCh38)
10:18962985 (GRCh37)
Canonical SPDI:: NC_000010.11:18674055:A:G
Gene:: ARL5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.18674056A>G, NC_000010.10:g.18962985A>G, NM_178815.5:c.412A>G, NM_178815.4:c.412A>G, NM_178815.3:c.412A>G, XM_005252401.5:c.301A>G, XM_005252401.4:c.301A>G, XM_005252401.3:c.301A>G, XM_005252401.2:c.301A>G, XM_005252401.1:c.301A>G, XM_005252400.2:c.328A>G, XM_005252400.1:c.328A>G, NP_848930.1:p.Ile138Val, XP_005252458.1:p.Ile101Val, XP_005252457.1:p.Ile110Val

Select item 141524709811.

rs1415247098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:18659667 (GRCh38)
10:18948596 (GRCh37)
Canonical SPDI:: NC_000010.11:18659666:C:T
Gene:: NSUN6 (Varview), ARL5B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.18659667C>T, NC_000010.10:g.18948596C>T, NM_178815.5:c.30C>T, NM_178815.4:c.30C>T, NM_178815.3:c.30C>T, XM_005252400.2:c.30C>T, XM_005252400.1:c.30C>T

Select item 141516641312.

rs1415166413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:18674007 (GRCh38)
10:18962936 (GRCh37)
Canonical SPDI:: NC_000010.11:18674006:T:C
Gene:: ARL5B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.18674007T>C, NC_000010.10:g.18962936T>C, NM_178815.5:c.363T>C, NM_178815.4:c.363T>C, NM_178815.3:c.363T>C, XM_005252401.5:c.252T>C, XM_005252401.4:c.252T>C, XM_005252401.3:c.252T>C, XM_005252401.2:c.252T>C, XM_005252401.1:c.252T>C, XM_005252400.2:c.279T>C, XM_005252400.1:c.279T>C

Select item 141079086913.

rs1410790869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:18668556 (GRCh38)
10:18957485 (GRCh37)
Canonical SPDI:: NC_000010.11:18668555:C:G
Gene:: ARL5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.18668556C>G, NC_000010.10:g.18957485C>G, NM_178815.5:c.134C>G, NM_178815.4:c.134C>G, NM_178815.3:c.134C>G, XM_005252401.5:c.23C>G, XM_005252401.4:c.23C>G, XM_005252401.3:c.23C>G, XM_005252401.2:c.23C>G, XM_005252401.1:c.23C>G, XM_005252400.2:c.134C>G, XM_005252400.1:c.134C>G, NP_848930.1:p.Ser45Cys, XP_005252458.1:p.Ser8Cys, XP_005252457.1:p.Ser45Cys

Select item 137677825614.

rs1376778256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:18659666 (GRCh38)
10:18948595 (GRCh37)
Canonical SPDI:: NC_000010.11:18659665:G:C
Gene:: NSUN6 (Varview), ARL5B (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000010.11:g.18659666G>C, NC_000010.10:g.18948595G>C, NM_178815.5:c.29G>C, NM_178815.4:c.29G>C, NM_178815.3:c.29G>C, XM_005252400.2:c.29G>C, XM_005252400.1:c.29G>C, NP_848930.1:p.Ser10Thr, XP_005252457.1:p.Ser10Thr

Select item 137328663015.

rs1373286630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:18659654 (GRCh38)
10:18948583 (GRCh37)
Canonical SPDI:: NC_000010.11:18659653:C:T
Gene:: NSUN6 (Varview), ARL5B (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.18659654C>T, NC_000010.10:g.18948583C>T, NM_178815.5:c.17C>T, NM_178815.4:c.17C>T, NM_178815.3:c.17C>T, XM_005252400.2:c.17C>T, XM_005252400.1:c.17C>T, NP_848930.1:p.Ala6Val, XP_005252457.1:p.Ala6Val