SNP Links for Protein (Select 974576801) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69133586 (GRCh38)
10:70893342 (GRCh37)
Canonical SPDI:: NC_000010.11:69133585:T:C
Gene:: VPS26A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.69133586T>C, NC_000010.10:g.70893342T>C, NM_001318944.2:c.81T>C, NM_001318944.1:c.81T>C, NM_001318945.2:c.81T>C, NM_001318945.1:c.81T>C

Select item 144647062516.

rs1446470625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:69171240 (GRCh38)
10:70930996 (GRCh37)
Canonical SPDI:: NC_000010.11:69171239:C:A
Gene:: VPS26A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.69171240C>A, NC_000010.10:g.70930996C>A, NM_004896.5:c.955C>A, NM_004896.4:c.955C>A, NM_004896.3:c.955C>A, NM_001035260.3:c.*56C>A, NM_001035260.2:c.*56C>A, NM_001035260.1:c.*56C>A, NM_001318944.2:c.934C>A, NM_001318944.1:c.934C>A, NM_001318945.2:c.904C>A, NM_001318945.1:c.904C>A, NM_001318946.2:c.622C>A, NM_001318946.1:c.622C>A, NP_004887.2:p.Gln319Lys, NP_001305873.1:p.Gln312Lys, NP_001305874.1:p.Gln302Lys, NP_001305875.1:p.Gln208Lys

Select item 144587780017.

rs1445877800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:69157073 (GRCh38)
10:70916829 (GRCh37)
Canonical SPDI:: NC_000010.11:69157072:G:T
Gene:: VPS26A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.69157073G>T, NC_000010.10:g.70916829G>T, NM_004896.5:c.296G>T, NM_004896.4:c.296G>T, NM_004896.3:c.296G>T, NM_001035260.3:c.296G>T, NM_001035260.2:c.296G>T, NM_001035260.1:c.296G>T, NM_001318944.2:c.275G>T, NM_001318944.1:c.275G>T, NM_001318945.2:c.245G>T, NM_001318945.1:c.245G>T, NM_001318946.2:c.-38G>T, NM_001318946.1:c.-38G>T, NP_004887.2:p.Gly99Val, NP_001030337.1:p.Gly99Val, NP_001305873.1:p.Gly92Val, NP_001305874.1:p.Gly82Val

Select item 142971576018.

rs1429715760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69157012 (GRCh38)
10:70916768 (GRCh37)
Canonical SPDI:: NC_000010.11:69157011:T:C
Gene:: VPS26A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69157012T>C, NC_000010.10:g.70916768T>C, NM_004896.5:c.235T>C, NM_004896.4:c.235T>C, NM_004896.3:c.235T>C, NM_001035260.3:c.235T>C, NM_001035260.2:c.235T>C, NM_001035260.1:c.235T>C, NM_001318944.2:c.214T>C, NM_001318944.1:c.214T>C, NM_001318945.2:c.184T>C, NM_001318945.1:c.184T>C, NM_001318946.2:c.-99T>C, NM_001318946.1:c.-99T>C, NP_004887.2:p.Phe79Leu, NP_001030337.1:p.Phe79Leu, NP_001305873.1:p.Phe72Leu, NP_001305874.1:p.Phe62Leu

Select item 142945722819.

rs1429457228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69171178 (GRCh38)
10:70930934 (GRCh37)
Canonical SPDI:: NC_000010.11:69171177:C:T
Gene:: VPS26A (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/5 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.69171178C>T, NC_000010.10:g.70930934C>T, NM_004896.5:c.893C>T, NM_004896.4:c.893C>T, NM_004896.3:c.893C>T, NM_001035260.3:c.750C>T, NM_001035260.2:c.750C>T, NM_001035260.1:c.750C>T, NM_001318944.2:c.872C>T, NM_001318944.1:c.872C>T, NM_001318945.2:c.842C>T, NM_001318945.1:c.842C>T, NM_001318946.2:c.560C>T, NM_001318946.1:c.560C>T, NP_004887.2:p.Ala298Val, NP_001305873.1:p.Ala291Val, NP_001305874.1:p.Ala281Val, NP_001305875.1:p.Ala187Val

Select item 142459206120.

rs1424592061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:69157113 (GRCh38)
10:70916869 (GRCh37)
Canonical SPDI:: NC_000010.11:69157112:G:C
Gene:: VPS26A (Varview)
Functional Consequence:: missense_variant,initiator_codon_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.69157113G>C, NC_000010.10:g.70916869G>C, NM_004896.5:c.336G>C, NM_004896.4:c.336G>C, NM_004896.3:c.336G>C, NM_001035260.3:c.336G>C, NM_001035260.2:c.336G>C, NM_001035260.1:c.336G>C, NM_001318944.2:c.315G>C, NM_001318944.1:c.315G>C, NM_001318945.2:c.285G>C, NM_001318945.1:c.285G>C, NM_001318946.2:c.3G>C, NM_001318946.1:c.3G>C, NP_004887.2:p.Met112Ile, NP_001030337.1:p.Met112Ile, NP_001305873.1:p.Met105Ile, NP_001305874.1:p.Met95Ile, NP_001305875.1:p.Met1Ile

dbSNP