SNP Links for Protein (Select 557878591) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:65605488 (GRCh38)
8:66517723 (GRCh37)
Canonical SPDI:: NC_000008.11:65605487:A:G
Gene:: ARMC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000008.11:g.65605488A>G, NC_000008.10:g.66517723A>G, NM_018120.6:c.516T>C, NM_018120.5:c.516T>C, NM_018120.4:c.516T>C, NM_001286702.2:c.210T>C, NM_001286702.1:c.210T>C, XM_047421926.1:c.516T>C

Select item 142623336111.

rs1426233361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:65604487 (GRCh38)
8:66516722 (GRCh37)
Canonical SPDI:: NC_000008.11:65604486:G:A
Gene:: ARMC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.65604487G>A, NC_000008.10:g.66516722G>A, NM_018120.6:c.756C>T, NM_018120.5:c.756C>T, NM_018120.4:c.756C>T, XM_005251264.3:c.639C>T, XM_005251264.2:c.639C>T, XM_005251264.1:c.639C>T, NM_001286702.2:c.450C>T, NM_001286702.1:c.450C>T, XM_047421926.1:c.756C>T, XM_047421927.1:c.639C>T

Select item 142299076212.

rs1422990762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:65627233 (GRCh38)
8:66539468 (GRCh37)
Canonical SPDI:: NC_000008.11:65627232:C:T
Gene:: ARMC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.65627233C>T, NC_000008.10:g.66539468C>T, NM_018120.6:c.166G>A, NM_018120.5:c.166G>A, NM_018120.4:c.166G>A, XM_005251264.3:c.166G>A, XM_005251264.2:c.166G>A, XM_005251264.1:c.166G>A, NM_001286702.2:c.50G>A, NM_001286702.1:c.50G>A, XM_047421926.1:c.166G>A, XM_047421927.1:c.166G>A, NP_060590.1:p.Val56Ile, XP_005251321.1:p.Val56Ile, NP_001273631.1:p.Arg17His, XP_047277882.1:p.Val56Ile, XP_047277883.1:p.Val56Ile

Select item 142213510313.

rs1422135103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:65604411 (GRCh38)
8:66516646 (GRCh37)
Canonical SPDI:: NC_000008.11:65604410:T:C
Gene:: ARMC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.65604411T>C, NC_000008.10:g.66516646T>C, NM_018120.6:c.832A>G, NM_018120.5:c.832A>G, NM_018120.4:c.832A>G, XM_005251264.3:c.715A>G, XM_005251264.2:c.715A>G, XM_005251264.1:c.715A>G, NM_001286702.2:c.526A>G, NM_001286702.1:c.526A>G, XM_047421926.1:c.832A>G, XM_047421927.1:c.715A>G, NP_060590.1:p.Arg278Gly, XP_005251321.1:p.Arg239Gly, NP_001273631.1:p.Arg176Gly, XP_047277882.1:p.Arg278Gly, XP_047277883.1:p.Arg239Gly

Select item 141863792314.

rs1418637923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:65605506 (GRCh38)
8:66517741 (GRCh37)
Canonical SPDI:: NC_000008.11:65605505:T:C
Gene:: ARMC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.65605506T>C, NC_000008.10:g.66517741T>C, NM_018120.6:c.498A>G, NM_018120.5:c.498A>G, NM_018120.4:c.498A>G, NM_001286702.2:c.192A>G, NM_001286702.1:c.192A>G, XM_047421926.1:c.498A>G

Select item 140146623615.

rs1401466236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:65622287 (GRCh38)
8:66534522 (GRCh37)
Canonical SPDI:: NC_000008.11:65622286:A:C
Gene:: ARMC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.65622287A>C, NC_000008.10:g.66534522A>C, NM_018120.6:c.251T>G, NM_018120.5:c.251T>G, NM_018120.4:c.251T>G, XM_005251264.3:c.251T>G, XM_005251264.2:c.251T>G, XM_005251264.1:c.251T>G, NM_001286702.2:c.135T>G, NM_001286702.1:c.135T>G, XM_047421926.1:c.251T>G, XM_047421927.1:c.251T>G, NP_060590.1:p.Leu84Trp, XP_005251321.1:p.Leu84Trp, XP_047277882.1:p.Leu84Trp, XP_047277883.1:p.Leu84Trp

Select item 139687303216.

rs1396873032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:65604433 (GRCh38)
8:66516668 (GRCh37)
Canonical SPDI:: NC_000008.11:65604432:G:A
Gene:: ARMC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.65604433G>A, NC_000008.10:g.66516668G>A, NM_018120.6:c.810C>T, NM_018120.5:c.810C>T, NM_018120.4:c.810C>T, XM_005251264.3:c.693C>T, XM_005251264.2:c.693C>T, XM_005251264.1:c.693C>T, NM_001286702.2:c.504C>T, NM_001286702.1:c.504C>T, XM_047421926.1:c.810C>T, XM_047421927.1:c.693C>T

Select item 139163494517.

rs1391634945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:65604536 (GRCh38)
8:66516771 (GRCh37)
Canonical SPDI:: NC_000008.11:65604535:T:C
Gene:: ARMC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.65604536T>C, NC_000008.10:g.66516771T>C, NM_018120.6:c.707A>G, NM_018120.5:c.707A>G, NM_018120.4:c.707A>G, XM_005251264.3:c.590A>G, XM_005251264.2:c.590A>G, XM_005251264.1:c.590A>G, NM_001286702.2:c.401A>G, NM_001286702.1:c.401A>G, XM_047421926.1:c.707A>G, XM_047421927.1:c.590A>G, NP_060590.1:p.Glu236Gly, XP_005251321.1:p.Glu197Gly, NP_001273631.1:p.Glu134Gly, XP_047277882.1:p.Glu236Gly, XP_047277883.1:p.Glu197Gly

Select item 138276743018.

rs1382767430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:65604541 (GRCh38)
8:66516776 (GRCh37)
Canonical SPDI:: NC_000008.11:65604540:G:A
Gene:: ARMC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.65604541G>A, NC_000008.10:g.66516776G>A, NM_018120.6:c.702C>T, NM_018120.5:c.702C>T, NM_018120.4:c.702C>T, XM_005251264.3:c.585C>T, XM_005251264.2:c.585C>T, XM_005251264.1:c.585C>T, NM_001286702.2:c.396C>T, NM_001286702.1:c.396C>T, XM_047421926.1:c.702C>T, XM_047421927.1:c.585C>T

Select item 138171444519.

rs1381714445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:65604547 (GRCh38)
8:66516782 (GRCh37)
Canonical SPDI:: NC_000008.11:65604546:T:G
Gene:: ARMC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.65604547T>G, NC_000008.10:g.66516782T>G, NM_018120.6:c.696A>C, NM_018120.5:c.696A>C, NM_018120.4:c.696A>C, XM_005251264.3:c.579A>C, XM_005251264.2:c.579A>C, XM_005251264.1:c.579A>C, NM_001286702.2:c.390A>C, NM_001286702.1:c.390A>C, XM_047421926.1:c.696A>C, XM_047421927.1:c.579A>C, NP_060590.1:p.Glu232Asp, XP_005251321.1:p.Glu193Asp, NP_001273631.1:p.Glu130Asp, XP_047277882.1:p.Glu232Asp, XP_047277883.1:p.Glu193Asp

Select item 137515843120.

rs1375158431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:65622296 (GRCh38)
8:66534531 (GRCh37)
Canonical SPDI:: NC_000008.11:65622295:C:T
Gene:: ARMC1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.65622296C>T, NC_000008.10:g.66534531C>T, NM_018120.6:c.242G>A, NM_018120.5:c.242G>A, NM_018120.4:c.242G>A, XM_005251264.3:c.242G>A, XM_005251264.2:c.242G>A, XM_005251264.1:c.242G>A, NM_001286702.2:c.126G>A, NM_001286702.1:c.126G>A, XM_047421926.1:c.242G>A, XM_047421927.1:c.242G>A, NP_060590.1:p.Gly81Asp, XP_005251321.1:p.Gly81Asp, XP_047277882.1:p.Gly81Asp, XP_047277883.1:p.Gly81Asp

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