SNP Links for Protein (Select 1060085927) - SNP

Links from Protein

Items: 1 to 20 of 887

<< First< Prev

Page of 45

Next >Last >>

Select item 14914645411.

rs1491464541 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:102637088 (GRCh38)
13:103289438 (GRCh37)
Canonical SPDI:: NC_000013.11:102637085:CTCT:CT
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.102637086CT[1], NC_000013.10:g.103289436CT[1], NG_063544.1:g.45101CT[1], NM_003291.4:c.1685_1686del, NM_003291.3:c.1685_1686del, NM_003291.2:c.1685_1686del, NM_001330588.2:c.1685_1686del, NM_001330588.1:c.1685_1686del, NM_001367947.1:c.1685_1686del, NR_160411.1:n.1736CT[1], XM_005254070.3:c.1685_1686del, XM_005254070.2:c.1685_1686del, XM_005254070.1:c.1685_1686del, XM_047430578.1:c.1685_1686del, XM_047430579.1:c.1685_1686del, XM_047430580.1:c.1685_1686del, NP_003282.2:p.Asn561_Ser562insTer, NP_001317517.1:p.Asn561_Ser562insTer, NP_001354876.1:p.Asn561_Ser562insTer, XP_005254127.1:p.Asn561_Ser562insTer, XP_047286534.1:p.Asn561_Ser562insTer, XP_047286535.1:p.Asn561_Ser562insTer, XP_047286536.1:p.Asn561_Ser562insTer

Select item 14911934532.

rs1491193453 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:102637086 (GRCh38)
13:103289437 (GRCh37)
Canonical SPDI:: NC_000013.11:102637086:T:TT
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000013.11:g.102637087dup, NC_000013.10:g.103289437dup, NG_063544.1:g.45102dup, NM_003291.4:c.1684dup, NM_003291.3:c.1684dup, NM_003291.2:c.1684dup, NM_001330588.2:c.1684dup, NM_001330588.1:c.1684dup, NM_001367947.1:c.1684dup, NR_160411.1:n.1737dup, XM_005254070.3:c.1684dup, XM_005254070.2:c.1684dup, XM_005254070.1:c.1684dup, XM_047430578.1:c.1684dup, XM_047430579.1:c.1684dup, XM_047430580.1:c.1684dup, NP_003282.2:p.Ser562fs, NP_001317517.1:p.Ser562fs, NP_001354876.1:p.Ser562fs, XP_005254127.1:p.Ser562fs, XP_047286534.1:p.Ser562fs, XP_047286535.1:p.Ser562fs, XP_047286536.1:p.Ser562fs

Select item 14897686003.

rs1489768600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102663681 (GRCh38)
13:103316031 (GRCh37)
Canonical SPDI:: NC_000013.11:102663680:A:G
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.102663681A>G, NC_000013.10:g.103316031A>G, NG_063544.1:g.71696A>G, NM_003291.4:c.3138A>G, NM_003291.3:c.3138A>G, NM_003291.2:c.3138A>G, NM_001330588.2:c.3177A>G, NM_001330588.1:c.3177A>G, NM_001367947.1:c.3138A>G, NR_160411.1:n.3191A>G, XM_005254070.3:c.3177A>G, XM_005254070.2:c.3177A>G, XM_005254070.1:c.3177A>G, XM_047430578.1:c.3177A>G, XM_047430579.1:c.3177A>G, XM_047430580.1:c.3138A>G

Select item 14880628224.

rs1488062822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102597170 (GRCh38)
13:103249520 (GRCh37)
Canonical SPDI:: NC_000013.11:102597169:C:T
Gene:: TPP2 (Varview), LOC107984588 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000013.11:g.102597170C>T, NC_000013.10:g.103249520C>T, NG_063544.1:g.5185C>T, NM_003291.4:c.132C>T, NM_003291.3:c.132C>T, NM_003291.2:c.132C>T, NM_001330588.2:c.132C>T, NM_001330588.1:c.132C>T, NM_001367947.1:c.132C>T, NR_160411.1:n.185C>T, XM_005254070.3:c.132C>T, XM_005254070.2:c.132C>T, XM_005254070.1:c.132C>T, XM_047430578.1:c.132C>T, XM_047430579.1:c.132C>T, XM_047430580.1:c.132C>T

Select item 14865470895.

rs1486547089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102657097 (GRCh38)
13:103309447 (GRCh37)
Canonical SPDI:: NC_000013.11:102657096:A:G
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102657097A>G, NC_000013.10:g.103309447A>G, NG_063544.1:g.65112A>G, NM_003291.4:c.2994A>G, NM_003291.3:c.2994A>G, NM_003291.2:c.2994A>G, NM_001330588.2:c.3033A>G, NM_001330588.1:c.3033A>G, NM_001367947.1:c.2994A>G, NR_160411.1:n.3047A>G, XM_005254070.3:c.3033A>G, XM_005254070.2:c.3033A>G, XM_005254070.1:c.3033A>G, XM_047430578.1:c.3033A>G, XM_047430579.1:c.3033A>G, XM_047430580.1:c.2994A>G

Select item 14841171116.

rs1484117111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:102635687 (GRCh38)
13:103288037 (GRCh37)
Canonical SPDI:: NC_000013.11:102635686:A:T
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102635687A>T, NC_000013.10:g.103288037A>T, NG_063544.1:g.43702A>T, NM_003291.4:c.1494A>T, NM_003291.3:c.1494A>T, NM_003291.2:c.1494A>T, NM_001330588.2:c.1494A>T, NM_001330588.1:c.1494A>T, NM_001367947.1:c.1494A>T, NR_160411.1:n.1547A>T, XM_005254070.3:c.1494A>T, XM_005254070.2:c.1494A>T, XM_005254070.1:c.1494A>T, XM_047430578.1:c.1494A>T, XM_047430579.1:c.1494A>T, XM_047430580.1:c.1494A>T

Select item 14838124787.

rs1483812478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:102674427 (GRCh38)
13:103326777 (GRCh37)
Canonical SPDI:: NC_000013.11:102674426:T:G
Gene:: TPP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102674427T>G, NC_000013.10:g.103326777T>G, NG_063544.1:g.82442T>G, NM_003291.4:c.3477T>G, NM_003291.3:c.3477T>G, NM_003291.2:c.3477T>G, NM_001330588.2:c.3516T>G, NM_001330588.1:c.3516T>G, NM_001367947.1:c.3603T>G, NR_160411.1:n.3541T>G, XM_005254070.3:c.3642T>G, XM_005254070.2:c.3642T>G, XM_005254070.1:c.3642T>G, XM_047430579.1:c.*113T>G, XM_047430580.1:c.*113T>G

Select item 14832772428.

rs1483277242 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:102663689 (GRCh38)
13:103316039 (GRCh37)
Canonical SPDI:: NC_000013.11:102663686:ATAT:AT
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102663687AT[1], NC_000013.10:g.103316037AT[1], NG_063544.1:g.71702AT[1], NM_003291.4:c.3146_3147del, NM_003291.3:c.3146_3147del, NM_003291.2:c.3146_3147del, NM_001330588.2:c.3185_3186del, NM_001330588.1:c.3185_3186del, NM_001367947.1:c.3146_3147del, NR_160411.1:n.3197AT[1], XM_005254070.3:c.3185_3186del, XM_005254070.2:c.3185_3186del, XM_005254070.1:c.3185_3186del, XM_047430578.1:c.3185_3186del, XM_047430579.1:c.3185_3186del, XM_047430580.1:c.3146_3147del, NP_003282.2:p.Tyr1049fs, NP_001317517.1:p.Tyr1062fs, NP_001354876.1:p.Tyr1049fs, XP_005254127.1:p.Tyr1062fs, XP_047286534.1:p.Tyr1062fs, XP_047286535.1:p.Tyr1062fs, XP_047286536.1:p.Tyr1049fs

Select item 14827619539.

rs1482761953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102637083 (GRCh38)
13:103289433 (GRCh37)
Canonical SPDI:: NC_000013.11:102637082:A:G
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000013.11:g.102637083A>G, NC_000013.10:g.103289433A>G, NG_063544.1:g.45098A>G, NM_003291.4:c.1680A>G, NM_003291.3:c.1680A>G, NM_003291.2:c.1680A>G, NM_001330588.2:c.1680A>G, NM_001330588.1:c.1680A>G, NM_001367947.1:c.1680A>G, NR_160411.1:n.1733A>G, XM_005254070.3:c.1680A>G, XM_005254070.2:c.1680A>G, XM_005254070.1:c.1680A>G, XM_047430578.1:c.1680A>G, XM_047430579.1:c.1680A>G, XM_047430580.1:c.1680A>G

Select item 148203772110.

rs1482037721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:102649459 (GRCh38)
13:103301809 (GRCh37)
Canonical SPDI:: NC_000013.11:102649458:G:C
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102649459G>C, NC_000013.10:g.103301809G>C, NG_063544.1:g.57474G>C, NM_003291.4:c.2925G>C, NM_003291.3:c.2925G>C, NM_003291.2:c.2925G>C, NM_001330588.2:c.2925G>C, NM_001330588.1:c.2925G>C, NM_001367947.1:c.2925G>C, NR_160411.1:n.2978G>C, XM_005254070.3:c.2925G>C, XM_005254070.2:c.2925G>C, XM_005254070.1:c.2925G>C, XM_047430578.1:c.2925G>C, XM_047430579.1:c.2925G>C, XM_047430580.1:c.2925G>C, NP_003282.2:p.Leu975Phe, NP_001317517.1:p.Leu975Phe, NP_001354876.1:p.Leu975Phe, XP_005254127.1:p.Leu975Phe, XP_047286534.1:p.Leu975Phe, XP_047286535.1:p.Leu975Phe, XP_047286536.1:p.Leu975Phe

Select item 147857780111.

rs1478577801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102640360 (GRCh38)
13:103292710 (GRCh37)
Canonical SPDI:: NC_000013.11:102640359:G:A
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102640360G>A, NC_000013.10:g.103292710G>A, NG_063544.1:g.48375G>A, NM_003291.4:c.2004G>A, NM_003291.3:c.2004G>A, NM_003291.2:c.2004G>A, NM_001330588.2:c.2004G>A, NM_001330588.1:c.2004G>A, NM_001367947.1:c.2004G>A, NR_160411.1:n.2057G>A, XM_005254070.3:c.2004G>A, XM_005254070.2:c.2004G>A, XM_005254070.1:c.2004G>A, XM_047430578.1:c.2004G>A, XM_047430579.1:c.2004G>A, XM_047430580.1:c.2004G>A

Select item 147762986212.

rs1477629862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:102657196 (GRCh38)
13:103309546 (GRCh37)
Canonical SPDI:: NC_000013.11:102657195:G:T
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000013.11:g.102657196G>T, NC_000013.10:g.103309546G>T, NG_063544.1:g.65211G>T, NM_003291.4:c.3093G>T, NM_003291.3:c.3093G>T, NM_003291.2:c.3093G>T, NM_001330588.2:c.3132G>T, NM_001330588.1:c.3132G>T, NM_001367947.1:c.3093G>T, NR_160411.1:n.3146G>T, XM_005254070.3:c.3132G>T, XM_005254070.2:c.3132G>T, XM_005254070.1:c.3132G>T, XM_047430578.1:c.3132G>T, XM_047430579.1:c.3132G>T, XM_047430580.1:c.3093G>T, NP_003282.2:p.Gln1031His, NP_001317517.1:p.Gln1044His, NP_001354876.1:p.Gln1031His, XP_005254127.1:p.Gln1044His, XP_047286534.1:p.Gln1044His, XP_047286535.1:p.Gln1044His, XP_047286536.1:p.Gln1031His

Select item 147580149913.

rs1475801499 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATG>- [Show Flanks]
Chromosome:: 13:102649431 (GRCh38)
13:103301781 (GRCh37)
Canonical SPDI:: NC_000013.11:102649428:TGGATG:TG
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102649431_102649434del, NC_000013.10:g.103301781_103301784del, NG_063544.1:g.57446_57449del, NM_003291.4:c.2897_2900del, NM_003291.3:c.2897_2900del, NM_003291.2:c.2897_2900del, NM_001330588.2:c.2897_2900del, NM_001330588.1:c.2897_2900del, NM_001367947.1:c.2897_2900del, NR_160411.1:n.2950_2953del, XM_005254070.3:c.2897_2900del, XM_005254070.2:c.2897_2900del, XM_005254070.1:c.2897_2900del, XM_047430578.1:c.2897_2900del, XM_047430579.1:c.2897_2900del, XM_047430580.1:c.2897_2900del, NP_003282.2:p.Gly966fs, NP_001317517.1:p.Gly966fs, NP_001354876.1:p.Gly966fs, XP_005254127.1:p.Gly966fs, XP_047286534.1:p.Gly966fs, XP_047286535.1:p.Gly966fs, XP_047286536.1:p.Gly966fs

Select item 147577429414.

rs1475774294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:102644942 (GRCh38)
13:103297292 (GRCh37)
Canonical SPDI:: NC_000013.11:102644941:C:G
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102644942C>G, NC_000013.10:g.103297292C>G, NG_063544.1:g.52957C>G, NM_003291.4:c.2326C>G, NM_003291.3:c.2326C>G, NM_003291.2:c.2326C>G, NM_001330588.2:c.2326C>G, NM_001330588.1:c.2326C>G, NM_001367947.1:c.2326C>G, NR_160411.1:n.2379C>G, XM_005254070.3:c.2326C>G, XM_005254070.2:c.2326C>G, XM_005254070.1:c.2326C>G, XM_047430578.1:c.2326C>G, XM_047430579.1:c.2326C>G, XM_047430580.1:c.2326C>G, NP_003282.2:p.Gln776Glu, NP_001317517.1:p.Gln776Glu, NP_001354876.1:p.Gln776Glu, XP_005254127.1:p.Gln776Glu, XP_047286534.1:p.Gln776Glu, XP_047286535.1:p.Gln776Glu, XP_047286536.1:p.Gln776Glu

Select item 147507419015.

rs1475074190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102623035 (GRCh38)
13:103275385 (GRCh37)
Canonical SPDI:: NC_000013.11:102623034:G:A
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000013.11:g.102623035G>A, NC_000013.10:g.103275385G>A, NG_063544.1:g.31050G>A, NM_003291.4:c.779G>A, NM_003291.3:c.779G>A, NM_003291.2:c.779G>A, NM_001330588.2:c.779G>A, NM_001330588.1:c.779G>A, NM_001367947.1:c.779G>A, NR_160411.1:n.832G>A, XM_005254070.3:c.779G>A, XM_005254070.2:c.779G>A, XM_005254070.1:c.779G>A, XM_047430578.1:c.779G>A, XM_047430579.1:c.779G>A, XM_047430580.1:c.779G>A, NP_003282.2:p.Ser260Asn, NP_001317517.1:p.Ser260Asn, NP_001354876.1:p.Ser260Asn, XP_005254127.1:p.Ser260Asn, XP_047286534.1:p.Ser260Asn, XP_047286535.1:p.Ser260Asn, XP_047286536.1:p.Ser260Asn

Select item 147506046116.

rs1475060461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:102618785 (GRCh38)
13:103271135 (GRCh37)
Canonical SPDI:: NC_000013.11:102618784:A:C
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102618785A>C, NC_000013.10:g.103271135A>C, NG_063544.1:g.26800A>C, NM_003291.4:c.559A>C, NM_003291.3:c.559A>C, NM_003291.2:c.559A>C, NM_001330588.2:c.559A>C, NM_001330588.1:c.559A>C, NM_001367947.1:c.559A>C, NR_160411.1:n.612A>C, XM_005254070.3:c.559A>C, XM_005254070.2:c.559A>C, XM_005254070.1:c.559A>C, XM_047430578.1:c.559A>C, XM_047430579.1:c.559A>C, XM_047430580.1:c.559A>C, NP_003282.2:p.Lys187Gln, NP_001317517.1:p.Lys187Gln, NP_001354876.1:p.Lys187Gln, XP_005254127.1:p.Lys187Gln, XP_047286534.1:p.Lys187Gln, XP_047286535.1:p.Lys187Gln, XP_047286536.1:p.Lys187Gln

Select item 147399058217.

rs1473990582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102664828 (GRCh38)
13:103317178 (GRCh37)
Canonical SPDI:: NC_000013.11:102664827:G:A
Gene:: TPP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102664828G>A, NC_000013.10:g.103317178G>A, NG_063544.1:g.72843G>A, NM_003291.4:c.3235G>A, NM_003291.3:c.3235G>A, NM_003291.2:c.3235G>A, NM_001330588.2:c.3274G>A, NM_001330588.1:c.3274G>A, NM_001367947.1:c.3235G>A, NR_160411.1:n.3288G>A, XM_005254070.3:c.3274G>A, XM_005254070.2:c.3274G>A, XM_005254070.1:c.3274G>A, XM_047430578.1:c.3274G>A, XM_047430579.1:c.3274G>A, XM_047430580.1:c.3235G>A, NP_003282.2:p.Ala1079Thr, NP_001317517.1:p.Ala1092Thr, NP_001354876.1:p.Ala1079Thr, XP_005254127.1:p.Ala1092Thr, XP_047286534.1:p.Ala1092Thr, XP_047286535.1:p.Ala1092Thr, XP_047286536.1:p.Ala1079Thr

Select item 147361297818.

rs1473612978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102676309 (GRCh38)
13:103328659 (GRCh37)
Canonical SPDI:: NC_000013.11:102676308:C:T
Gene:: TPP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000013.11:g.102676309C>T, NC_000013.10:g.103328659C>T, NG_063544.1:g.84324C>T, NM_003291.4:c.3554C>T, NM_003291.3:c.3554C>T, NM_003291.2:c.3554C>T, NM_001330588.2:c.3593C>T, NM_001330588.1:c.3593C>T, NM_001367947.1:c.3680C>T, NR_160411.1:n.3618C>T, XM_005254070.3:c.3719C>T, XM_005254070.2:c.3719C>T, XM_005254070.1:c.3719C>T, NP_003282.2:p.Ala1185Val, NP_001317517.1:p.Ala1198Val, NP_001354876.1:p.Ala1227Val, XP_005254127.1:p.Ala1240Val

Select item 147264309219.

rs1472643092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:102676299 (GRCh38)
13:103328649 (GRCh37)
Canonical SPDI:: NC_000013.11:102676298:T:G
Gene:: TPP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102676299T>G, NC_000013.10:g.103328649T>G, NG_063544.1:g.84314T>G, NM_003291.4:c.3544T>G, NM_003291.3:c.3544T>G, NM_003291.2:c.3544T>G, NM_001330588.2:c.3583T>G, NM_001330588.1:c.3583T>G, NM_001367947.1:c.3670T>G, NR_160411.1:n.3608T>G, XM_005254070.3:c.3709T>G, XM_005254070.2:c.3709T>G, XM_005254070.1:c.3709T>G, NP_003282.2:p.Leu1182Val, NP_001317517.1:p.Leu1195Val, NP_001354876.1:p.Leu1224Val, XP_005254127.1:p.Leu1237Val

Select item 147192536920.

rs1471925369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:102636285 (GRCh38)
13:103288635 (GRCh37)
Canonical SPDI:: NC_000013.11:102636284:C:G
Gene:: TPP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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.102636285C>G, NC_000013.10:g.103288635C>G, NG_063544.1:g.44300C>G, NM_003291.4:c.1571C>G, NM_003291.3:c.1571C>G, NM_003291.2:c.1571C>G, NM_001330588.2:c.1571C>G, NM_001330588.1:c.1571C>G, NM_001367947.1:c.1571C>G, NR_160411.1:n.1624C>G, XM_005254070.3:c.1571C>G, XM_005254070.2:c.1571C>G, XM_005254070.1:c.1571C>G, XM_047430578.1:c.1571C>G, XM_047430579.1:c.1571C>G, XM_047430580.1:c.1571C>G, NP_003282.2:p.Thr524Ser, NP_001317517.1:p.Thr524Ser, NP_001354876.1:p.Thr524Ser, XP_005254127.1:p.Thr524Ser, XP_047286534.1:p.Thr524Ser, XP_047286535.1:p.Thr524Ser, XP_047286536.1:p.Thr524Ser

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 887

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity