SNP Links for Protein (Select 62945406) - SNP

Select item 14877328541.

rs1487732854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:135760399 (GRCh38)
X:134891279 (GRCh37)
Canonical SPDI:: NC_000023.11:135760398:G:A,NC_000023.11:135760398:G:C
Gene:: CT45A3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0.00113/107 (GnomAD)
A=0.00624/30 (1000Genomes)
HGVS:: NC_000023.11:g.135760399G>A, NC_000023.11:g.135760399G>C, NW_004070887.1:g.691542G>A, NW_004070887.1:g.691542G>C, NC_000023.10:g.134891279C>T, NC_000023.10:g.134891279C>G, NM_001370148.2:c.523C>T, NM_001370148.2:c.523C>G, NM_001370148.1:c.523C>T, NM_001370148.1:c.523C>G, NM_001017435.2:c.523C>T, NM_001017435.2:c.523C>G, NM_001017435.1:c.523C>T, NM_001017435.1:c.523C>G, NM_001370149.1:c.523C>T, NM_001370149.1:c.523C>G, NM_001017436.1:c.523C>T, NM_001017436.1:c.523C>G, NP_001357077.1:p.Arg175Ter, NP_001357077.1:p.Arg175Gly, NP_001017435.1:p.Arg175Ter, NP_001017435.1:p.Arg175Gly, NP_001357078.1:p.Arg175Ter, NP_001357078.1:p.Arg175Gly

Select item 14757385012.

rs1475738501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:135760362 (GRCh38)
X:134891316 (GRCh37)
Canonical SPDI:: NC_000023.11:135760361:C:A,NC_000023.11:135760361:C:G,NC_000023.11:135760361:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.135760362C>A, NC_000023.11:g.135760362C>G, NC_000023.11:g.135760362C>T, NW_004070887.1:g.691505C>A, NW_004070887.1:g.691505C>G, NW_004070887.1:g.691505C>T, NC_000023.10:g.134891316G>T, NC_000023.10:g.134891316G>C, NC_000023.10:g.134891316G>A, NM_001370148.2:c.560G>T, NM_001370148.2:c.560G>C, NM_001370148.2:c.560G>A, NM_001370148.1:c.560G>T, NM_001370148.1:c.560G>C, NM_001370148.1:c.560G>A, NM_001017435.2:c.560G>T, NM_001017435.2:c.560G>C, NM_001017435.2:c.560G>A, NM_001017435.1:c.560G>T, NM_001017435.1:c.560G>C, NM_001017435.1:c.560G>A, NM_001370149.1:c.560G>T, NM_001370149.1:c.560G>C, NM_001370149.1:c.560G>A, NM_001017436.1:c.560G>T, NM_001017436.1:c.560G>C, NM_001017436.1:c.560G>A, NP_001357077.1:p.Arg187Leu, NP_001357077.1:p.Arg187Pro, NP_001357077.1:p.Arg187His, NP_001017435.1:p.Arg187Leu, NP_001017435.1:p.Arg187Pro, NP_001017435.1:p.Arg187His, NP_001357078.1:p.Arg187Leu, NP_001357078.1:p.Arg187Pro, NP_001357078.1:p.Arg187His

Select item 14698058233.

rs1469805823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:135762321 (GRCh38)
X:134889356 (GRCh37)
Canonical SPDI:: NC_000023.11:135762320:A:T
Gene:: CT45A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
T=0.00478/1 (GnomAD)
HGVS:: NC_000023.11:g.135762321A>T, NW_004070887.1:g.693464A>T, NC_000023.10:g.134889356T>A, NM_001370148.2:c.205T>A, NM_001370148.1:c.205T>A, NM_001017435.2:c.205T>A, NM_001017435.1:c.205T>A, NM_001370149.1:c.205T>A, NM_001017436.1:c.205T>A, NP_001357077.1:p.Leu69Met, NP_001017435.1:p.Leu69Met, NP_001357078.1:p.Leu69Met

Select item 14423077124.

rs1442307712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135761650 (GRCh38)
X:134890028 (GRCh37)
Canonical SPDI:: NC_000023.11:135761649:T:C
Gene:: CT45A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135761650T>C, NW_004070887.1:g.692793T>C, NC_000023.10:g.134890028A>G, NM_001370148.2:c.496A>G, NM_001370148.1:c.496A>G, NM_001017435.2:c.496A>G, NM_001017435.1:c.496A>G, NM_001370149.1:c.496A>G, NM_001017436.1:c.496A>G, NP_001357077.1:p.Ile166Val, NP_001017435.1:p.Ile166Val, NP_001357078.1:p.Ile166Val

Select item 14238930075.

rs1423893007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135762167 (GRCh38)
X:134889510 (GRCh37)
Canonical SPDI:: NC_000023.11:135762166:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.01914/227 (ALFA)
T=0.00797/60 (TOMMO)
HGVS:: NC_000023.11:g.135762167C>T, NW_004070887.1:g.693310C>T, NC_000023.10:g.134889510G>A, NM_001370148.2:c.359G>A, NM_001370148.1:c.359G>A, NM_001017435.2:c.359G>A, NM_001017435.1:c.359G>A, NM_001370149.1:c.359G>A, NM_001017436.1:c.359A>G, NP_001357077.1:p.Arg120Gln, NP_001017435.1:p.Arg120Gln, NP_001357078.1:p.Arg120Gln

Select item 13972912496.

rs1397291249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:135761667 (GRCh38)
X:134890011 (GRCh37)
Canonical SPDI:: NC_000023.11:135761666:C:A
Gene:: CT45A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00021/1 (GnomAD)
HGVS:: NC_000023.11:g.135761667C>A, NW_004070887.1:g.692810C>A, NC_000023.10:g.134890011G>T, NM_001370148.2:c.479G>T, NM_001370148.1:c.479G>T, NM_001017435.2:c.479G>T, NM_001017435.1:c.479G>T, NM_001370149.1:c.479G>T, NM_001017436.1:c.479G>T, NP_001357077.1:p.Arg160Leu, NP_001017435.1:p.Arg160Leu, NP_001357078.1:p.Arg160Leu

Select item 13297743927.

rs1329774392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135761669 (GRCh38)
X:134890009 (GRCh37)
Canonical SPDI:: NC_000023.11:135761668:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00573/68 (ALFA)
HGVS:: NC_000023.11:g.135761669C>T, NW_004070887.1:g.692812C>T, NC_000023.10:g.134890009G>A, NM_001370148.2:c.477G>A, NM_001370148.1:c.477G>A, NM_001017435.2:c.477G>A, NM_001017435.1:c.477G>A, NM_001370149.1:c.477G>A, NM_001017436.1:c.477A>G

Select item 12592576678.

rs1259257667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:135760389 (GRCh38)
X:134891289 (GRCh37)
Canonical SPDI:: NC_000023.11:135760388:A:C
Gene:: CT45A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135760389A>C, NW_004070887.1:g.691532A>C, NC_000023.10:g.134891289T>G, NM_001370148.2:c.533T>G, NM_001370148.1:c.533T>G, NM_001017435.2:c.533T>G, NM_001017435.1:c.533T>G, NM_001370149.1:c.533T>G, NM_001017436.1:c.533T>G, NP_001357077.1:p.Val178Gly, NP_001017435.1:p.Val178Gly, NP_001357078.1:p.Val178Gly

Select item 11936622239.

rs1193662223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135762255 (GRCh38)
X:134889422 (GRCh37)
Canonical SPDI:: NC_000023.11:135762254:T:C
Gene:: CT45A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.135762255T>C, NW_004070887.1:g.693398T>C, NC_000023.10:g.134889422A>G, NM_001370148.2:c.271A>G, NM_001370148.1:c.271A>G, NM_001017435.2:c.271A>G, NM_001017435.1:c.271A>G, NM_001370149.1:c.271A>G, NM_001017436.1:c.271A>G, NP_001357077.1:p.Asn91Asp, NP_001017435.1:p.Asn91Asp, NP_001357078.1:p.Asn91Asp

Select item 119108698810.

rs1191086988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135760398 (GRCh38)
X:134891280 (GRCh37)
Canonical SPDI:: NC_000023.11:135760397:C:T
Gene:: CT45A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00005/1 (TOMMO)
HGVS:: NC_000023.11:g.135760398C>T, NW_004070887.1:g.691541C>T, NC_000023.10:g.134891280G>A, NM_001370148.2:c.524G>A, NM_001370148.1:c.524G>A, NM_001017435.2:c.524G>A, NM_001017435.1:c.524G>A, NM_001370149.1:c.524G>A, NM_001017436.1:c.524G>A, NP_001357077.1:p.Arg175Gln, NP_001017435.1:p.Arg175Gln, NP_001357078.1:p.Arg175Gln

Select item 20136614211.

rs201366142 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>G
Chromosome:: no mapping
Canonical SPDI:

Select item 20027785612.

rs200277856 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>C
Chromosome:: no mapping
Canonical SPDI:

dbSNP

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Links from Protein

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