SNP Links for Protein (Select 555943820) - SNP

Links from Protein

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Select item 14905195371.

rs1490519537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:45340027 (GRCh38)
13:45914162 (GRCh37)
Canonical SPDI:: NC_000013.11:45340026:G:A,NC_000013.11:45340026:G:C
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45340027G>A, NC_000013.11:g.45340027G>C, NC_000013.10:g.45914162G>A, NC_000013.10:g.45914162G>C, NM_003295.4:c.260C>T, NM_003295.4:c.260C>G, NM_003295.3:c.260C>T, NM_003295.3:c.260C>G, NM_003295.2:c.260C>T, NM_003295.2:c.260C>G, NM_001286272.2:c.260C>T, NM_001286272.2:c.260C>G, NM_001286272.1:c.260C>T, NM_001286272.1:c.260C>G, NM_001286273.2:c.158C>T, NM_001286273.2:c.158C>G, NM_001286273.1:c.158C>T, NM_001286273.1:c.158C>G, NP_003286.1:p.Ala87Val, NP_003286.1:p.Ala87Gly, NP_001273201.1:p.Ala87Val, NP_001273201.1:p.Ala87Gly, NP_001273202.1:p.Ala53Val, NP_001273202.1:p.Ala53Gly

Select item 14901591712.

rs1490159171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:45337387 (GRCh38)
13:45911522 (GRCh37)
Canonical SPDI:: NC_000013.11:45337386:T:C
Gene:: TPT1 (Varview), SNORA31 (Varview), SNORA31B (Varview)
Functional Consequence:: terminator_codon_variant,3_prime_UTR_variant,synonymous_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.45337387T>C, NC_000013.10:g.45911522T>C, NM_003295.4:c.518A>G, NM_003295.3:c.518A>G, NM_003295.2:c.518A>G, NM_001286272.2:c.*89A>G, NM_001286272.1:c.*89A>G, NM_001286273.2:c.416A>G, NM_001286273.1:c.416A>G

Select item 14658229683.

rs1465822968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45340130 (GRCh38)
13:45914265 (GRCh37)
Canonical SPDI:: NC_000013.11:45340129:A:G
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.45340130A>G, NC_000013.10:g.45914265A>G, NM_003295.4:c.157T>C, NM_003295.3:c.157T>C, NM_003295.2:c.157T>C, NM_001286272.2:c.157T>C, NM_001286272.1:c.157T>C, NM_001286273.2:c.55T>C, NM_001286273.1:c.55T>C, NP_003286.1:p.Ser53Pro, NP_001273201.1:p.Ser53Pro, NP_001273202.1:p.Ser19Pro

Select item 14570615914.

rs1457061591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45340120 (GRCh38)
13:45914255 (GRCh37)
Canonical SPDI:: NC_000013.11:45340119:C:T
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000048/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.45340120C>T, NC_000013.10:g.45914255C>T, NM_003295.4:c.167G>A, NM_003295.3:c.167G>A, NM_003295.2:c.167G>A, NM_001286272.2:c.167G>A, NM_001286272.1:c.167G>A, NM_001286273.2:c.65G>A, NM_001286273.1:c.65G>A, NP_003286.1:p.Gly56Asp, NP_001273201.1:p.Gly56Asp, NP_001273202.1:p.Gly22Asp

Select item 14560847385.

rs1456084738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:45340007 (GRCh38)
13:45914142 (GRCh37)
Canonical SPDI:: NC_000013.11:45340006:C:G
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_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_000013.11:g.45340007C>G, NC_000013.10:g.45914142C>G, NM_003295.4:c.280G>C, NM_003295.3:c.280G>C, NM_003295.2:c.280G>C, NM_001286272.2:c.280G>C, NM_001286272.1:c.280G>C, NM_001286273.2:c.178G>C, NM_001286273.1:c.178G>C, NP_003286.1:p.Asp94His, NP_001273201.1:p.Asp94His, NP_001273202.1:p.Asp60His

Select item 14542889326.

rs1454288932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:45340124 (GRCh38)
13:45914259 (GRCh37)
Canonical SPDI:: NC_000013.11:45340123:C:G
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45340124C>G, NC_000013.10:g.45914259C>G, NM_003295.4:c.163G>C, NM_003295.3:c.163G>C, NM_003295.2:c.163G>C, NM_001286272.2:c.163G>C, NM_001286272.1:c.163G>C, NM_001286273.2:c.61G>C, NM_001286273.1:c.61G>C, NP_003286.1:p.Glu55Gln, NP_001273201.1:p.Glu55Gln, NP_001273202.1:p.Glu21Gln

Select item 14316159107.

rs1431615910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45338759 (GRCh38)
13:45912894 (GRCh37)
Canonical SPDI:: NC_000013.11:45338758:G:A
Gene:: TPT1 (Varview), SNORA31 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.45338759G>A, NC_000013.10:g.45912894G>A, NM_003295.4:c.417C>T, NM_003295.3:c.417C>T, NM_003295.2:c.417C>T, NM_001286272.2:c.417C>T, NM_001286272.1:c.417C>T, NM_001286273.2:c.315C>T, NM_001286273.1:c.315C>T

Select item 14292110858.

rs1429211085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45338717 (GRCh38)
13:45912852 (GRCh37)
Canonical SPDI:: NC_000013.11:45338716:C:T
Gene:: TPT1 (Varview), SNORA31 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.45338717C>T, NC_000013.10:g.45912852C>T, NM_003295.4:c.459G>A, NM_003295.3:c.459G>A, NM_003295.2:c.459G>A, NM_001286272.2:c.459G>A, NM_001286272.1:c.459G>A, NM_001286273.2:c.357G>A, NM_001286273.1:c.357G>A

Select item 14252811539.

rs1425281153 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 13:45339581 (GRCh38)
13:45913716 (GRCh37)
Canonical SPDI:: NC_000013.11:45339580:TT:T
Gene:: TPT1 (Varview), SNORA31 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.45339582del, NC_000013.10:g.45913717del, NM_003295.4:c.315del, NM_003295.3:c.315del, NM_003295.2:c.315del, NM_001286272.2:c.315del, NM_001286272.1:c.315del, NM_001286273.2:c.213del, NM_001286273.1:c.213del, NP_003286.1:p.Glu105fs, NP_001273201.1:p.Glu105fs, NP_001273202.1:p.Glu71fs

Select item 142475728210.

rs1424757282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45338670 (GRCh38)
13:45912805 (GRCh37)
Canonical SPDI:: NC_000013.11:45338669:A:G
Gene:: TPT1 (Varview), SNORA31 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45338670A>G, NC_000013.10:g.45912805A>G, NM_003295.4:c.506T>C, NM_003295.3:c.506T>C, NM_003295.2:c.506T>C, NM_001286272.2:c.506T>C, NM_001286272.1:c.506T>C, NM_001286273.2:c.404T>C, NM_001286273.1:c.404T>C, NP_003286.1:p.Met169Thr, NP_001273201.1:p.Met169Thr, NP_001273202.1:p.Met135Thr

Select item 140421723311.

rs1404217233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:45340133 (GRCh38)
13:45914268 (GRCh37)
Canonical SPDI:: NC_000013.11:45340132:C:G,NC_000013.11:45340132:C:T
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45340133C>G, NC_000013.11:g.45340133C>T, NC_000013.10:g.45914268C>G, NC_000013.10:g.45914268C>T, NM_003295.4:c.154G>C, NM_003295.4:c.154G>A, NM_003295.3:c.154G>C, NM_003295.3:c.154G>A, NM_003295.2:c.154G>C, NM_003295.2:c.154G>A, NM_001286272.2:c.154G>C, NM_001286272.2:c.154G>A, NM_001286272.1:c.154G>C, NM_001286272.1:c.154G>A, NM_001286273.2:c.52G>C, NM_001286273.2:c.52G>A, NM_001286273.1:c.52G>C, NM_001286273.1:c.52G>A, NP_003286.1:p.Ala52Pro, NP_003286.1:p.Ala52Thr, NP_001273201.1:p.Ala52Pro, NP_001273201.1:p.Ala52Thr, NP_001273202.1:p.Ala18Pro, NP_001273202.1:p.Ala18Thr

Select item 140241428812.

rs1402414288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45338688 (GRCh38)
13:45912823 (GRCh37)
Canonical SPDI:: NC_000013.11:45338687:A:C
Gene:: TPT1 (Varview), SNORA31 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45338688A>C, NC_000013.10:g.45912823A>C, NM_003295.4:c.488T>G, NM_003295.3:c.488T>G, NM_003295.2:c.488T>G, NM_001286272.2:c.488T>G, NM_001286272.1:c.488T>G, NM_001286273.2:c.386T>G, NM_001286273.1:c.386T>G, NP_003286.1:p.Phe163Cys, NP_001273201.1:p.Phe163Cys, NP_001273202.1:p.Phe129Cys

Select item 139923740913.

rs1399237409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45340115 (GRCh38)
13:45914250 (GRCh37)
Canonical SPDI:: NC_000013.11:45340114:C:T
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.45340115C>T, NC_000013.10:g.45914250C>T, NM_003295.4:c.172G>A, NM_003295.3:c.172G>A, NM_003295.2:c.172G>A, NM_001286272.2:c.172G>A, NM_001286272.1:c.172G>A, NM_001286273.2:c.70G>A, NM_001286273.1:c.70G>A, NP_003286.1:p.Glu58Lys, NP_001273201.1:p.Glu58Lys, NP_001273202.1:p.Glu24Lys

Select item 139205543714.

rs1392055437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:45339585 (GRCh38)
13:45913720 (GRCh37)
Canonical SPDI:: NC_000013.11:45339584:T:C
Gene:: TPT1 (Varview), SNORA31 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.45339585T>C, NC_000013.10:g.45913720T>C, NM_003295.4:c.311A>G, NM_003295.3:c.311A>G, NM_003295.2:c.311A>G, NM_001286272.2:c.311A>G, NM_001286272.1:c.311A>G, NM_001286273.2:c.209A>G, NM_001286273.1:c.209A>G, NP_003286.1:p.Glu104Gly, NP_001273201.1:p.Glu104Gly, NP_001273202.1:p.Glu70Gly

Select item 139022219315.

rs1390222193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45340104 (GRCh38)
13:45914239 (GRCh37)
Canonical SPDI:: NC_000013.11:45340103:A:C
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.45340104A>C, NC_000013.10:g.45914239A>C, NM_003295.4:c.183T>G, NM_003295.3:c.183T>G, NM_003295.2:c.183T>G, NM_001286272.2:c.183T>G, NM_001286272.1:c.183T>G, NM_001286273.2:c.81T>G, NM_001286273.1:c.81T>G

Select item 138945533316.

rs1389455333 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:45339593 (GRCh38)
13:45913728 (GRCh37)
Canonical SPDI:: NC_000013.11:45339592:CCC:CC
Gene:: TPT1 (Varview), SNORA31 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45339595del, NC_000013.10:g.45913730del, NM_003295.4:c.303del, NM_003295.3:c.303del, NM_003295.2:c.303del, NM_001286272.2:c.303del, NM_001286272.1:c.303del, NM_001286273.2:c.201del, NM_001286273.1:c.201del, NP_003286.1:p.Lys102fs, NP_001273201.1:p.Lys102fs, NP_001273202.1:p.Lys68fs

Select item 138354429417.

rs1383544294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45338735 (GRCh38)
13:45912870 (GRCh37)
Canonical SPDI:: NC_000013.11:45338734:A:G
Gene:: TPT1 (Varview), SNORA31 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45338735A>G, NC_000013.10:g.45912870A>G, NM_003295.4:c.441T>C, NM_003295.3:c.441T>C, NM_003295.2:c.441T>C, NM_001286272.2:c.441T>C, NM_001286272.1:c.441T>C, NM_001286273.2:c.339T>C, NM_001286273.1:c.339T>C

Select item 136745213718.

rs1367452137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45339555 (GRCh38)
13:45913690 (GRCh37)
Canonical SPDI:: NC_000013.11:45339554:A:G
Gene:: TPT1 (Varview), SNORA31 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000013.11:g.45339555A>G, NC_000013.10:g.45913690A>G, NM_003295.4:c.341T>C, NM_003295.3:c.341T>C, NM_003295.2:c.341T>C, NM_001286272.2:c.341T>C, NM_001286272.1:c.341T>C, NM_001286273.2:c.239T>C, NM_001286273.1:c.239T>C, NP_003286.1:p.Phe114Ser, NP_001273201.1:p.Phe114Ser, NP_001273202.1:p.Phe80Ser

Select item 136570179619.

rs1365701796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45340072 (GRCh38)
13:45914207 (GRCh37)
Canonical SPDI:: NC_000013.11:45340071:A:G
Gene:: TPT1 (Varview), TPT1-AS1 (Varview), LOC124903169 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45340072A>G, NC_000013.10:g.45914207A>G, NM_003295.4:c.215T>C, NM_003295.3:c.215T>C, NM_003295.2:c.215T>C, NM_001286272.2:c.215T>C, NM_001286272.1:c.215T>C, NM_001286273.2:c.113T>C, NM_001286273.1:c.113T>C, NP_003286.1:p.Ile72Thr, NP_001273201.1:p.Ile72Thr, NP_001273202.1:p.Ile38Thr

Select item 135343362220.

rs1353433622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:45338747 (GRCh38)
13:45912882 (GRCh37)
Canonical SPDI:: NC_000013.11:45338746:A:T
Gene:: TPT1 (Varview), SNORA31 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45338747A>T, NC_000013.10:g.45912882A>T, NM_003295.4:c.429T>A, NM_003295.3:c.429T>A, NM_003295.2:c.429T>A, NM_001286272.2:c.429T>A, NM_001286272.1:c.429T>A, NM_001286273.2:c.327T>A, NM_001286273.1:c.327T>A, NP_003286.1:p.Asp143Glu, NP_001273201.1:p.Asp143Glu, NP_001273202.1:p.Asp109Glu

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