SNP Links for Protein (Select 341926171) - SNP

Select item 14905468371.

rs1490546837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:42925565 (GRCh38)
6:42893303 (GRCh37)
Canonical SPDI:: NC_000006.12:42925564:C:A,NC_000006.12:42925564:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,stop_gained
Validated:: by cluster
HGVS:: NC_000006.12:g.42925565C>A, NC_000006.12:g.42925565C>T, NC_000006.11:g.42893303C>A, NC_000006.11:g.42893303C>T, NG_029636.1:g.14577C>A, NG_029636.1:g.14577C>T, NM_138296.3:c.729C>A, NM_138296.3:c.729C>T, NM_138296.2:c.729C>A, NM_138296.2:c.729C>T, NM_001243168.2:c.774C>A, NM_001243168.2:c.774C>T, NM_001243168.1:c.774C>A, NM_001243168.1:c.774C>T, NM_001243169.2:c.654C>A, NM_001243169.2:c.654C>T, NM_001243169.1:c.654C>A, NM_001243169.1:c.654C>T, NM_001243170.2:c.408C>A, NM_001243170.2:c.408C>T, NM_001243170.1:c.408C>A, NM_001243170.1:c.408C>T, XM_024446344.2:c.*64C>A, XM_024446344.2:c.*64C>T, XM_024446344.1:c.*64C>A, XM_024446344.1:c.*64C>T, XM_024446346.2:c.*64C>A, XM_024446346.2:c.*64C>T, XM_024446346.1:c.*64C>A, XM_024446346.1:c.*64C>T, XM_024446342.1:c.630C>A, XM_024446342.1:c.630C>T, XM_024446345.1:c.*64C>A, XM_024446345.1:c.*64C>T, NP_612153.2:p.Tyr243Ter, NP_001230097.1:p.Tyr258Ter, NP_001230098.1:p.Tyr218Ter, NP_001230099.1:p.Tyr136Ter, XP_024302110.1:p.Tyr210Ter

Select item 14884070292.

rs1488407029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42925274 (GRCh38)
6:42893012 (GRCh37)
Canonical SPDI:: NC_000006.12:42925273:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000006.12:g.42925274G>A, NC_000006.11:g.42893012G>A, NG_029636.1:g.14286G>A, NM_138296.3:c.438G>A, NM_138296.2:c.438G>A, NM_001243168.2:c.483G>A, NM_001243168.1:c.483G>A, NM_001243169.2:c.363G>A, NM_001243169.1:c.363G>A, NM_001243170.2:c.117G>A, NM_001243170.1:c.117G>A, XM_024446342.1:c.339G>A

Select item 14818078923.

rs1481807892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:42925339 (GRCh38)
6:42893077 (GRCh37)
Canonical SPDI:: NC_000006.12:42925338:C:G
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42925339C>G, NC_000006.11:g.42893077C>G, NG_029636.1:g.14351C>G, NM_138296.3:c.503C>G, NM_138296.2:c.503C>G, NM_001243168.2:c.548C>G, NM_001243168.1:c.548C>G, NM_001243169.2:c.428C>G, NM_001243169.1:c.428C>G, NM_001243170.2:c.182C>G, NM_001243170.1:c.182C>G, XM_024446342.1:c.404C>G, NP_612153.2:p.Thr168Ser, NP_001230097.1:p.Thr183Ser, NP_001230098.1:p.Thr143Ser, NP_001230099.1:p.Thr61Ser, XP_024302110.1:p.Thr135Ser

Select item 14813756224.

rs1481375622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42925343 (GRCh38)
6:42893081 (GRCh37)
Canonical SPDI:: NC_000006.12:42925342:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42925343C>T, NC_000006.11:g.42893081C>T, NG_029636.1:g.14355C>T, NM_138296.3:c.507C>T, NM_138296.2:c.507C>T, NM_001243168.2:c.552C>T, NM_001243168.1:c.552C>T, NM_001243169.2:c.432C>T, NM_001243169.1:c.432C>T, NM_001243170.2:c.186C>T, NM_001243170.1:c.186C>T, XM_024446342.1:c.408C>T

Select item 14777197935.

rs1477719793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:42922259 (GRCh38)
6:42889997 (GRCh37)
Canonical SPDI:: NC_000006.12:42922258:G:C
Gene:: PTCRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.42922259G>C, NC_000006.11:g.42889997G>C, NG_029636.1:g.11271G>C, NM_001243169.2:c.100G>C, NM_001243169.1:c.100G>C, XM_024446344.2:c.89G>C, XM_024446344.1:c.89G>C, NP_001230098.1:p.Gly34Arg, XP_024302112.1:p.Arg30Thr