SNP Links for Protein (Select 344313174) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:10431334 (GRCh38)
1:10491391 (GRCh37)
Canonical SPDI:: NC_000001.11:10431333:C:T
Gene:: CENPS (Varview), CENPS-CORT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10431334C>T, NC_000001.10:g.10491391C>T, NM_001243768.2:c.45C>T, NM_001243768.1:c.45C>T, NR_037187.2:n.585C>T, NR_037187.1:n.588C>T, NR_036462.2:n.585C>T, NR_036462.1:n.588C>T, NM_199295.1:c.-134C>T, NR_037186.1:n.588C>T

Select item 135852304718.

rs1358523047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10451502 (GRCh38)
1:10511559 (GRCh37)
Canonical SPDI:: NC_000001.11:10451501:G:A
Gene:: CORT (Varview), CENPS-CORT (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10451502G>A, NC_000001.10:g.10511559G>A, NM_001302.5:c.225G>A, NM_001302.4:c.225G>A, NM_198544.4:c.402G>A, NM_198544.3:c.402G>A, NM_199006.3:c.*101G>A, NM_199006.2:c.*101G>A, NM_001243768.2:c.339G>A, NM_001243768.1:c.339G>A, NR_037187.2:n.845G>A, NR_037187.1:n.848G>A, NM_001270517.2:c.*162G>A, NM_001270517.1:c.*162G>A, NR_037186.1:n.882G>A

Select item 135343305219.

rs1353433052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:10440373 (GRCh38)
1:10500430 (GRCh37)
Canonical SPDI:: NC_000001.11:10440372:C:T
Gene:: CENPS (Varview), CENPS-CORT (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10440373C>T, NC_000001.10:g.10500430C>T, NM_198544.4:c.236C>T, NM_198544.3:c.236C>T, NM_199294.3:c.236C>T, NM_199294.2:c.236C>T, NM_001243768.2:c.173C>T, NM_001243768.1:c.173C>T, NR_037187.2:n.679C>T, NR_037187.1:n.682C>T, NR_036462.2:n.837C>T, NR_036462.1:n.840C>T, NM_001270517.2:c.236C>T, NM_001270517.1:c.236C>T, NM_199295.1:c.119C>T, NR_037186.1:n.716C>T, NP_940946.1:p.Thr79Ile, NP_954988.1:p.Thr79Ile, NP_001230697.1:p.Thr58Ile, NP_001257446.1:p.Thr79Ile

Select item 134850585720.

rs1348505857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:10451473 (GRCh38)
1:10511530 (GRCh37)
Canonical SPDI:: NC_000001.11:10451472:A:G
Gene:: CORT (Varview), CENPS-CORT (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.10451473A>G, NC_000001.10:g.10511530A>G, NM_001302.5:c.196A>G, NM_001302.4:c.196A>G, NM_198544.4:c.373A>G, NM_198544.3:c.373A>G, NM_199006.3:c.*72A>G, NM_199006.2:c.*72A>G, NM_001243768.2:c.310A>G, NM_001243768.1:c.310A>G, NR_037187.2:n.816A>G, NR_037187.1:n.819A>G, NM_001270517.2:c.*133A>G, NM_001270517.1:c.*133A>G, NR_037186.1:n.853A>G, NP_001293.3:p.Ile66Val, NP_940946.1:p.Ile125Val, NP_001230697.1:p.Ile104Val

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