SNP Links for Protein (Select 1034581427) - SNP

Links from Protein

Items: 1 to 20 of 447

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Select item 14880270841.

rs1488027084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:98534296 (GRCh38)
12:98928074 (GRCh37)
Canonical SPDI:: NC_000012.12:98534295:G:C
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000012.12:g.98534296G>C, NC_000012.11:g.98928074G>C, NG_021393.1:g.23724G>C, NM_003276.2:c.2039G>C, XM_017019914.3:c.1133G>C, XM_017019914.2:c.1133G>C, XM_017019914.1:c.1133G>C, NP_003267.1:p.Gly680Ala, XP_016875403.1:p.Gly378Ala

Select item 14877075542.

rs1487707554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98533209 (GRCh38)
12:98926987 (GRCh37)
Canonical SPDI:: NC_000012.12:98533208:A:G
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000012.12:g.98533209A>G, NC_000012.11:g.98926987A>G, NG_021393.1:g.22637A>G, NM_003276.2:c.952A>G, XM_017019914.3:c.46A>G, XM_017019914.2:c.46A>G, XM_017019914.1:c.46A>G, NP_003267.1:p.Thr318Ala, XP_016875403.1:p.Thr16Ala

Select item 14872727493.

rs1487272749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98533367 (GRCh38)
12:98927145 (GRCh37)
Canonical SPDI:: NC_000012.12:98533366:T:C
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533367T>C, NC_000012.11:g.98927145T>C, NG_021393.1:g.22795T>C, NM_003276.2:c.1110T>C, XM_017019914.3:c.204T>C, XM_017019914.2:c.204T>C, XM_017019914.1:c.204T>C

Select item 14857953234.

rs1485795323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:98533420 (GRCh38)
12:98927198 (GRCh37)
Canonical SPDI:: NC_000012.12:98533419:G:C
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.98533420G>C, NC_000012.11:g.98927198G>C, NG_021393.1:g.22848G>C, NM_003276.2:c.1163G>C, XM_017019914.3:c.257G>C, XM_017019914.2:c.257G>C, XM_017019914.1:c.257G>C, NP_003267.1:p.Gly388Ala, XP_016875403.1:p.Gly86Ala

Select item 14849867725.

rs1484986772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98534283 (GRCh38)
12:98928061 (GRCh37)
Canonical SPDI:: NC_000012.12:98534282:G:A
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.98534283G>A, NC_000012.11:g.98928061G>A, NG_021393.1:g.23711G>A, NM_003276.2:c.2026G>A, XM_017019914.3:c.1120G>A, XM_017019914.2:c.1120G>A, XM_017019914.1:c.1120G>A, NP_003267.1:p.Gly676Arg, XP_016875403.1:p.Gly374Arg

Select item 14824078456.

rs1482407845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:98534319 (GRCh38)
12:98928097 (GRCh37)
Canonical SPDI:: NC_000012.12:98534318:A:C,NC_000012.12:98534318:A:G,NC_000012.12:98534318:A:T
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.98534319A>C, NC_000012.12:g.98534319A>G, NC_000012.12:g.98534319A>T, NC_000012.11:g.98928097A>C, NC_000012.11:g.98928097A>G, NC_000012.11:g.98928097A>T, NG_021393.1:g.23747A>C, NG_021393.1:g.23747A>G, NG_021393.1:g.23747A>T, NM_003276.2:c.2062A>C, NM_003276.2:c.2062A>G, NM_003276.2:c.2062A>T, XM_017019914.3:c.1156A>C, XM_017019914.3:c.1156A>G, XM_017019914.3:c.1156A>T, XM_017019914.2:c.1156A>C, XM_017019914.2:c.1156A>G, XM_017019914.2:c.1156A>T, XM_017019914.1:c.1156A>C, XM_017019914.1:c.1156A>G, XM_017019914.1:c.1156A>T, NP_003267.1:p.Lys688Gln, NP_003267.1:p.Lys688Glu, NP_003267.1:p.Lys688Ter, XP_016875403.1:p.Lys386Gln, XP_016875403.1:p.Lys386Glu, XP_016875403.1:p.Lys386Ter

Select item 14808754317.

rs1480875431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98533906 (GRCh38)
12:98927684 (GRCh37)
Canonical SPDI:: NC_000012.12:98533905:T:C
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533906T>C, NC_000012.11:g.98927684T>C, NG_021393.1:g.23334T>C, NM_003276.2:c.1649T>C, XM_017019914.3:c.743T>C, XM_017019914.2:c.743T>C, XM_017019914.1:c.743T>C, NP_003267.1:p.Leu550Pro, XP_016875403.1:p.Leu248Pro

Select item 14790997318.

rs1479099731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98533657 (GRCh38)
12:98927435 (GRCh37)
Canonical SPDI:: NC_000012.12:98533656:A:G
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533657A>G, NC_000012.11:g.98927435A>G, NG_021393.1:g.23085A>G, NM_003276.2:c.1400A>G, XM_017019914.3:c.494A>G, XM_017019914.2:c.494A>G, XM_017019914.1:c.494A>G, NP_003267.1:p.His467Arg, XP_016875403.1:p.His165Arg

Select item 14720815479.

rs1472081547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:98533585 (GRCh38)
12:98927363 (GRCh37)
Canonical SPDI:: NC_000012.12:98533584:G:C
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000012.12:g.98533585G>C, NC_000012.11:g.98927363G>C, NG_021393.1:g.23013G>C, NM_003276.2:c.1328G>C, XM_017019914.3:c.422G>C, XM_017019914.2:c.422G>C, XM_017019914.1:c.422G>C, NP_003267.1:p.Gly443Ala, XP_016875403.1:p.Gly141Ala

Select item 146864507610.

rs1468645076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98533446 (GRCh38)
12:98927224 (GRCh37)
Canonical SPDI:: NC_000012.12:98533445:T:C
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533446T>C, NC_000012.11:g.98927224T>C, NG_021393.1:g.22874T>C, NM_003276.2:c.1189T>C, XM_017019914.3:c.283T>C, XM_017019914.2:c.283T>C, XM_017019914.1:c.283T>C, NP_003267.1:p.Ser397Pro, XP_016875403.1:p.Ser95Pro

Select item 146520747111.

rs1465207471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:98533524 (GRCh38)
12:98927302 (GRCh37)
Canonical SPDI:: NC_000012.12:98533523:C:T
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533524C>T, NC_000012.11:g.98927302C>T, NG_021393.1:g.22952C>T, NM_003276.2:c.1267C>T, XM_017019914.3:c.361C>T, XM_017019914.2:c.361C>T, XM_017019914.1:c.361C>T

Select item 146520083312.

rs1465200833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:98533249 (GRCh38)
12:98927027 (GRCh37)
Canonical SPDI:: NC_000012.12:98533248:G:A,NC_000012.12:98533248:G:T
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.98533249G>A, NC_000012.12:g.98533249G>T, NC_000012.11:g.98927027G>A, NC_000012.11:g.98927027G>T, NG_021393.1:g.22677G>A, NG_021393.1:g.22677G>T, NM_003276.2:c.992G>A, NM_003276.2:c.992G>T, XM_017019914.3:c.86G>A, XM_017019914.3:c.86G>T, XM_017019914.2:c.86G>A, XM_017019914.2:c.86G>T, XM_017019914.1:c.86G>A, XM_017019914.1:c.86G>T, NP_003267.1:p.Gly331Asp, NP_003267.1:p.Gly331Val, XP_016875403.1:p.Gly29Asp, XP_016875403.1:p.Gly29Val

Select item 145879784713.

rs1458797847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:98533505 (GRCh38)
12:98927283 (GRCh37)
Canonical SPDI:: NC_000012.12:98533504:G:C
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533505G>C, NC_000012.11:g.98927283G>C, NG_021393.1:g.22933G>C, NM_003276.2:c.1248G>C, XM_017019914.3:c.342G>C, XM_017019914.2:c.342G>C, XM_017019914.1:c.342G>C, NP_003267.1:p.Lys416Asn, XP_016875403.1:p.Lys114Asn

Select item 145619972914.

rs1456199729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:98533387 (GRCh38)
12:98927165 (GRCh37)
Canonical SPDI:: NC_000012.12:98533386:T:G
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98533387T>G, NC_000012.11:g.98927165T>G, NG_021393.1:g.22815T>G, NM_003276.2:c.1130T>G, XM_017019914.3:c.224T>G, XM_017019914.2:c.224T>G, XM_017019914.1:c.224T>G, NP_003267.1:p.Ile377Ser, XP_016875403.1:p.Ile75Ser

Select item 145441076715.

rs1454410767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:98533395 (GRCh38)
12:98927173 (GRCh37)
Canonical SPDI:: NC_000012.12:98533394:T:A
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.98533395T>A, NC_000012.11:g.98927173T>A, NG_021393.1:g.22823T>A, NM_003276.2:c.1138T>A, XM_017019914.3:c.232T>A, XM_017019914.2:c.232T>A, XM_017019914.1:c.232T>A, NP_003267.1:p.Tyr380Asn, XP_016875403.1:p.Tyr78Asn

Select item 145421372416.

rs1454213724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98533754 (GRCh38)
12:98927532 (GRCh37)
Canonical SPDI:: NC_000012.12:98533753:A:G
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533754A>G, NC_000012.11:g.98927532A>G, NG_021393.1:g.23182A>G, NM_003276.2:c.1497A>G, XM_017019914.3:c.591A>G, XM_017019914.2:c.591A>G, XM_017019914.1:c.591A>G

Select item 145341691617.

rs1453416916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98533223 (GRCh38)
12:98927001 (GRCh37)
Canonical SPDI:: NC_000012.12:98533222:T:C
Gene:: TMPO (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.98533223T>C, NC_000012.11:g.98927001T>C, NG_021393.1:g.22651T>C, NM_003276.2:c.966T>C, XM_017019914.3:c.60T>C, XM_017019914.2:c.60T>C, XM_017019914.1:c.60T>C

Select item 145081122918.

rs1450811229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98534185 (GRCh38)
12:98927963 (GRCh37)
Canonical SPDI:: NC_000012.12:98534184:T:C
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.98534185T>C, NC_000012.11:g.98927963T>C, NG_021393.1:g.23613T>C, NM_003276.2:c.1928T>C, XM_017019914.3:c.1022T>C, XM_017019914.2:c.1022T>C, XM_017019914.1:c.1022T>C, NP_003267.1:p.Met643Thr, XP_016875403.1:p.Met341Thr

Select item 145080569419.

rs1450805694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98533647 (GRCh38)
12:98927425 (GRCh37)
Canonical SPDI:: NC_000012.12:98533646:G:A
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.98533647G>A, NC_000012.11:g.98927425G>A, NG_021393.1:g.23075G>A, NM_003276.2:c.1390G>A, XM_017019914.3:c.484G>A, XM_017019914.2:c.484G>A, XM_017019914.1:c.484G>A, NP_003267.1:p.Val464Ile, XP_016875403.1:p.Val162Ile

Select item 144611848120.

rs1446118481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:98533462 (GRCh38)
12:98927240 (GRCh37)
Canonical SPDI:: NC_000012.12:98533461:C:G
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
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_000012.12:g.98533462C>G, NC_000012.11:g.98927240C>G, NG_021393.1:g.22890C>G, NM_003276.2:c.1205C>G, XM_017019914.3:c.299C>G, XM_017019914.2:c.299C>G, XM_017019914.1:c.299C>G, NP_003267.1:p.Pro402Arg, XP_016875403.1:p.Pro100Arg

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