SNP Links for Nucleotide (Select 221136853) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7688418 (GRCh38)
17:7591736 (GRCh37)
Canonical SPDI:: NC_000017.11:7688417:G:A
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7688418G>A, NC_000017.10:g.7591736G>A, NG_017013.2:g.4133C>T, NG_028245.1:g.7348G>A, NM_018081.2:c.-231G>A, NM_001143992.1:c.-145G>A

Select item 14789249308.

rs1478924930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7688523 (GRCh38)
17:7591841 (GRCh37)
Canonical SPDI:: NC_000017.11:7688522:G:T
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.7688523G>T, NC_000017.10:g.7591841G>T, NG_017013.2:g.4028C>A, NG_028245.1:g.7453G>T, NM_018081.2:c.-126G>T, NM_001143992.2:c.-40G>T, NM_001143992.1:c.-40G>T, XM_024450825.2:c.-40G>T, XM_024450825.1:c.-40G>T

Select item 14783336219.

rs1478333621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7703415 (GRCh38)
17:7606733 (GRCh37)
Canonical SPDI:: NC_000017.11:7703414:A:G
Gene:: EFNB3 (Varview), WRAP53 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7703415A>G, NC_000017.10:g.7606733A>G, NG_028245.1:g.22345A>G, NM_018081.2:c.1576A>G, NM_001143991.2:c.1576A>G, NM_001143991.1:c.1576A>G, NM_001143990.2:c.1576A>G, NM_001143990.1:c.1576A>G, NM_001143992.2:c.1576A>G, NM_001143992.1:c.1576A>G, XM_011523952.3:c.937A>G, XM_011523952.2:c.937A>G, XM_011523952.1:c.937A>G, NP_060551.2:p.Ser526Gly, NP_001137463.1:p.Ser526Gly, NP_001137462.1:p.Ser526Gly, NP_001137464.1:p.Ser526Gly, XP_011522254.1:p.Ser313Gly

Select item 147701595210.

rs1477015952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7700829 (GRCh38)
17:7604147 (GRCh37)
Canonical SPDI:: NC_000017.11:7700828:A:G
Gene:: WRAP53 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7700829A>G, NC_000017.10:g.7604147A>G, NG_028245.1:g.19759A>G, NM_018081.2:c.731A>G, NM_001143991.2:c.731A>G, NM_001143991.1:c.731A>G, NM_001143990.2:c.731A>G, NM_001143990.1:c.731A>G, NM_001143992.2:c.731A>G, NM_001143992.1:c.731A>G, XM_011523952.3:c.92A>G, XM_011523952.2:c.92A>G, XM_011523952.1:c.92A>G, XM_024450825.2:c.731A>G, XM_024450825.1:c.731A>G, NP_060551.2:p.Tyr244Cys, NP_001137463.1:p.Tyr244Cys, NP_001137462.1:p.Tyr244Cys, NP_001137464.1:p.Tyr244Cys, XP_011522254.1:p.Tyr31Cys, XP_024306593.1:p.Tyr244Cys

Select item 147572297211.

rs1475722972 has merged into rs1064796155 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:7703090 (GRCh38)
17:7606408 (GRCh37)
Canonical SPDI:: NC_000017.11:7703088:GAG:G
Gene:: WRAP53 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7703090_7703091del, NC_000017.10:g.7606408_7606409del, NG_028245.1:g.22020_22021del, NM_018081.2:c.1366_1367del, NM_001143991.2:c.1366_1367del, NM_001143991.1:c.1366_1367del, NM_001143990.2:c.1366_1367del, NM_001143990.1:c.1366_1367del, NM_001143992.2:c.1366_1367del, NM_001143992.1:c.1366_1367del, XM_011523952.3:c.727_728del, XM_011523952.2:c.727_728del, XM_011523952.1:c.727_728del, NP_060551.2:p.Ser456fs, NP_001137463.1:p.Ser456fs, NP_001137462.1:p.Ser456fs, NP_001137464.1:p.Ser456fs, XP_011522254.1:p.Ser243fs

Select item 147397371812.

rs1473973718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7702748 (GRCh38)
17:7606066 (GRCh37)
Canonical SPDI:: NC_000017.11:7702747:T:G
Gene:: WRAP53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7702748T>G, NC_000017.10:g.7606066T>G, NG_028245.1:g.21678T>G, NM_018081.2:c.1170T>G, NM_001143991.2:c.1170T>G, NM_001143991.1:c.1170T>G, NM_001143990.2:c.1170T>G, NM_001143990.1:c.1170T>G, NM_001143992.2:c.1170T>G, NM_001143992.1:c.1170T>G, XM_011523952.3:c.531T>G, XM_011523952.2:c.531T>G, XM_011523952.1:c.531T>G

Select item 147328737413.

rs1473287374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7688824 (GRCh38)
17:7592142 (GRCh37)
Canonical SPDI:: NC_000017.11:7688823:C:T
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7688824C>T, NC_000017.10:g.7592142C>T, NG_017013.2:g.3727G>A, NG_028245.1:g.7754C>T, NM_018081.2:c.176C>T, NM_001143991.2:c.176C>T, NM_001143991.1:c.176C>T, NM_001143990.2:c.176C>T, NM_001143990.1:c.176C>T, NM_001143992.2:c.176C>T, NM_001143992.1:c.176C>T, XM_024450825.2:c.176C>T, XM_024450825.1:c.176C>T, NP_060551.2:p.Ala59Val, NP_001137463.1:p.Ala59Val, NP_001137462.1:p.Ala59Val, NP_001137464.1:p.Ala59Val, XP_024306593.1:p.Ala59Val

Select item 147236944514.

rs1472369445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7688457 (GRCh38)
17:7591775 (GRCh37)
Canonical SPDI:: NC_000017.11:7688456:C:T
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000079/21 (TOPMED)
HGVS:: NC_000017.11:g.7688457C>T, NC_000017.10:g.7591775C>T, NG_017013.2:g.4094G>A, NG_028245.1:g.7387C>T, NM_018081.2:c.-192C>T, NM_001143992.1:c.-106C>T