SNP Links for Protein (Select 607344299) - SNP

Links from Protein

Items: 1 to 20 of 1043

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Select item 14908226771.

rs1490822677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:976246 (GRCh38)
1:911626 (GRCh37)
Canonical SPDI:: NC_000001.11:976245:T:C
Gene:: PLEKHN1 (Varview), PERM1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.976246T>C, NC_000001.10:g.911626T>C, NM_001291366.2:c.2299A>G, NM_001291366.1:c.2299A>G, NM_001291367.2:c.1957A>G, NM_001291367.1:c.2017A>G, NM_032722.2:c.103A>G, NM_001369897.1:c.2299A>G, NM_001394713.1:c.2299A>G, NM_001369898.1:c.2233A>G, NR_027693.1:n.1993A>G, NM_032722.1:c.103A>G, NP_001278295.1:p.Ile767Val, NP_001278296.2:p.Ile653Val, NP_001356826.1:p.Ile767Val, NP_001381642.1:p.Ile767Val, NP_001356827.1:p.Ile745Val

Select item 14900112602.

rs1490011260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:976603 (GRCh38)
1:911983 (GRCh37)
Canonical SPDI:: NC_000001.11:976602:G:A,NC_000001.11:976602:G:C
Gene:: PERM1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.976603G>A, NC_000001.11:g.976603G>C, NC_000001.10:g.911983G>A, NC_000001.10:g.911983G>C, NM_001291366.2:c.2171C>T, NM_001291366.2:c.2171C>G, NM_001291366.1:c.2171C>T, NM_001291366.1:c.2171C>G, NM_001291367.2:c.1829C>T, NM_001291367.2:c.1829C>G, NM_001291367.1:c.1889C>T, NM_001291367.1:c.1889C>G, NM_032722.2:c.-26C>T, NM_032722.2:c.-26C>G, NM_001369897.1:c.2171C>T, NM_001369897.1:c.2171C>G, NM_001394713.1:c.2171C>T, NM_001394713.1:c.2171C>G, NR_027693.1:n.1865C>T, NR_027693.1:n.1865C>G, NM_032722.1:c.-26C>T, NM_032722.1:c.-26C>G, NP_001278295.1:p.Pro724Leu, NP_001278295.1:p.Pro724Arg, NP_001278296.2:p.Pro610Leu, NP_001278296.2:p.Pro610Arg, NP_001356826.1:p.Pro724Leu, NP_001356826.1:p.Pro724Arg, NP_001381642.1:p.Pro724Leu, NP_001381642.1:p.Pro724Arg

Select item 14895679453.

rs1489567945 [Homo sapiens]

Variant type:: DEL
Alleles:: GGTGTCACAGAAGAAGAACTCGTAGG>- [Show Flanks]
Chromosome:: 1:979257 (GRCh38)
1:914637 (GRCh37)
Canonical SPDI:: NC_000001.11:979256:GGTGTCACAGAAGAAGAACTCGTAGG:
Gene:: PERM1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.979257_979282del, NC_000001.10:g.914637_914662del, NM_001291366.2:c.1748_1773del, NM_001291366.1:c.1748_1773del, NM_001291367.2:c.1406_1431del, NM_001291367.1:c.1466_1491del, NM_001369897.1:c.1748_1773del, NM_001394713.1:c.1748_1773del, NM_001369898.1:c.1748_1773del, NR_027693.1:n.1442_1467del, NP_001278295.1:p.Ala583fs, NP_001278296.2:p.Ala469fs, NP_001356826.1:p.Ala583fs, NP_001381642.1:p.Ala583fs, NP_001356827.1:p.Ala583fs

Select item 14888889734.

rs1488888973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:979867 (GRCh38)
1:915247 (GRCh37)
Canonical SPDI:: NC_000001.11:979866:G:A
Gene:: PERM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.979867G>A, NC_000001.10:g.915247G>A, NM_001291366.2:c.1163C>T, NM_001291366.1:c.1163C>T, NM_001291367.2:c.821C>T, NM_001291367.1:c.881C>T, NM_001369897.1:c.1163C>T, NM_001394713.1:c.1163C>T, NM_001369898.1:c.1163C>T, NR_027693.1:n.857C>T, NP_001278295.1:p.Thr388Ile, NP_001278296.2:p.Thr274Ile, NP_001356826.1:p.Thr388Ile, NP_001381642.1:p.Thr388Ile, NP_001356827.1:p.Thr388Ile

Select item 14885944035.

rs1488594403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:979017 (GRCh38)
1:914397 (GRCh37)
Canonical SPDI:: NC_000001.11:979016:C:G,NC_000001.11:979016:C:T
Gene:: PERM1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.979017C>G, NC_000001.11:g.979017C>T, NC_000001.10:g.914397C>G, NC_000001.10:g.914397C>T, NM_001291366.2:c.2013G>C, NM_001291366.2:c.2013G>A, NM_001291366.1:c.2013G>C, NM_001291366.1:c.2013G>A, NM_001291367.2:c.1671G>C, NM_001291367.2:c.1671G>A, NM_001291367.1:c.1731G>C, NM_001291367.1:c.1731G>A, NM_001369897.1:c.2013G>C, NM_001369897.1:c.2013G>A, NM_001394713.1:c.2013G>C, NM_001394713.1:c.2013G>A, NM_001369898.1:c.2013G>C, NM_001369898.1:c.2013G>A, NR_027693.1:n.1707G>C, NR_027693.1:n.1707G>A, NP_001278295.1:p.Glu671Asp, NP_001278296.2:p.Glu557Asp, NP_001356826.1:p.Glu671Asp, NP_001381642.1:p.Glu671Asp, NP_001356827.1:p.Glu671Asp

Select item 14882735846.

rs1488273584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:980470 (GRCh38)
1:915850 (GRCh37)
Canonical SPDI:: NC_000001.11:980469:G:A
Gene:: PERM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.980470G>A, NC_000001.10:g.915850G>A, NM_001291366.2:c.560C>T, NM_001291366.1:c.560C>T, NM_001291367.2:c.218C>T, NM_001291367.1:c.278C>T, NM_001369897.1:c.560C>T, NM_001394713.1:c.560C>T, NM_001369898.1:c.560C>T, NR_027693.1:n.254C>T, NP_001278295.1:p.Ala187Val, NP_001278296.2:p.Ala73Val, NP_001356826.1:p.Ala187Val, NP_001381642.1:p.Ala187Val, NP_001356827.1:p.Ala187Val

Select item 14879079617.

rs1487907961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:979905 (GRCh38)
1:915285 (GRCh37)
Canonical SPDI:: NC_000001.11:979904:T:C
Gene:: PERM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.979905T>C, NC_000001.10:g.915285T>C, NM_001291366.2:c.1125A>G, NM_001291366.1:c.1125A>G, NM_001291367.2:c.783A>G, NM_001291367.1:c.843A>G, NM_001369897.1:c.1125A>G, NM_001394713.1:c.1125A>G, NM_001369898.1:c.1125A>G, NR_027693.1:n.819A>G

Select item 14878369878.

rs1487836987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:979319 (GRCh38)
1:914699 (GRCh37)
Canonical SPDI:: NC_000001.11:979318:C:T
Gene:: PERM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.979319C>T, NC_000001.10:g.914699C>T, NM_001291366.2:c.1711G>A, NM_001291366.1:c.1711G>A, NM_001291367.2:c.1369G>A, NM_001291367.1:c.1429G>A, NM_001369897.1:c.1711G>A, NM_001394713.1:c.1711G>A, NM_001369898.1:c.1711G>A, NR_027693.1:n.1405G>A, NP_001278295.1:p.Gly571Arg, NP_001278296.2:p.Gly457Arg, NP_001356826.1:p.Gly571Arg, NP_001381642.1:p.Gly571Arg, NP_001356827.1:p.Gly571Arg

Select item 14871516939.

rs1487151693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:980854 (GRCh38)
1:916234 (GRCh37)
Canonical SPDI:: NC_000001.11:980853:A:T
Gene:: PERM1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.980854A>T, NC_000001.10:g.916234A>T, NM_001291366.2:c.176T>A, NM_001291366.1:c.176T>A, NM_001369897.1:c.176T>A, NM_001394713.1:c.176T>A, NM_001369898.1:c.176T>A, NP_001278295.1:p.Leu59His, NP_001356826.1:p.Leu59His, NP_001381642.1:p.Leu59His, NP_001356827.1:p.Leu59His

Select item 148711635710.

rs1487116357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:980048 (GRCh38)
1:915428 (GRCh37)
Canonical SPDI:: NC_000001.11:980047:T:C
Gene:: PERM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.980048T>C, NC_000001.10:g.915428T>C, NM_001291366.2:c.982A>G, NM_001291366.1:c.982A>G, NM_001291367.2:c.640A>G, NM_001291367.1:c.700A>G, NM_001369897.1:c.982A>G, NM_001394713.1:c.982A>G, NM_001369898.1:c.982A>G, NR_027693.1:n.676A>G, NP_001278295.1:p.Met328Val, NP_001278296.2:p.Met214Val, NP_001356826.1:p.Met328Val, NP_001381642.1:p.Met328Val, NP_001356827.1:p.Met328Val

Select item 148692096511.

rs1486920965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:979289 (GRCh38)
1:914669 (GRCh37)
Canonical SPDI:: NC_000001.11:979288:G:A
Gene:: PERM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.979289G>A, NC_000001.10:g.914669G>A, NM_001291366.2:c.1741C>T, NM_001291366.1:c.1741C>T, NM_001291367.2:c.1399C>T, NM_001291367.1:c.1459C>T, NM_001369897.1:c.1741C>T, NM_001394713.1:c.1741C>T, NM_001369898.1:c.1741C>T, NR_027693.1:n.1435C>T, NP_001278295.1:p.Pro581Ser, NP_001278296.2:p.Pro467Ser, NP_001356826.1:p.Pro581Ser, NP_001381642.1:p.Pro581Ser, NP_001356827.1:p.Pro581Ser

Select item 148637200112.

rs1486372001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:980684 (GRCh38)
1:916064 (GRCh37)
Canonical SPDI:: NC_000001.11:980683:C:T
Gene:: PERM1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000037/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.980684C>T, NC_000001.10:g.916064C>T, NM_001291366.2:c.346G>A, NM_001291366.1:c.346G>A, NM_001369897.1:c.346G>A, NM_001394713.1:c.346G>A, NM_001369898.1:c.346G>A, NP_001278295.1:p.Gly116Ser, NP_001356826.1:p.Gly116Ser, NP_001381642.1:p.Gly116Ser, NP_001356827.1:p.Gly116Ser

Select item 148621116513.

rs1486211165 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:979238 (GRCh38)
1:914618 (GRCh37)
Canonical SPDI:: NC_000001.11:979237:CC:C
Gene:: PERM1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.979239del, NC_000001.10:g.914619del, NM_001291366.2:c.1792del, NM_001291366.1:c.1792del, NM_001291367.2:c.1450del, NM_001291367.1:c.1510del, NM_001369897.1:c.1792del, NM_001394713.1:c.1792del, NM_001369898.1:c.1792del, NR_027693.1:n.1486del, NP_001278295.1:p.Ala598fs, NP_001278296.2:p.Ala484fs, NP_001356826.1:p.Ala598fs, NP_001381642.1:p.Ala598fs, NP_001356827.1:p.Ala598fs

Select item 148565407614.

rs1485654076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:980574 (GRCh38)
1:915954 (GRCh37)
Canonical SPDI:: NC_000001.11:980573:C:T
Gene:: PERM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000059/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.980574C>T, NC_000001.10:g.915954C>T, NM_001291366.2:c.456G>A, NM_001291366.1:c.456G>A, NM_001291367.2:c.114G>A, NM_001291367.1:c.174G>A, NM_001369897.1:c.456G>A, NM_001394713.1:c.456G>A, NM_001369898.1:c.456G>A, NR_027693.1:n.150G>A

Select item 148554692515.

rs1485546925 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:979781 (GRCh38)
1:915162 (GRCh37)
Canonical SPDI:: NC_000001.11:979781:T:TT
Gene:: PERM1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.979782dup, NC_000001.10:g.915162dup, NM_001291366.2:c.1248dup, NM_001291366.1:c.1248dup, NM_001291367.2:c.906dup, NM_001291367.1:c.966dup, NM_001369897.1:c.1248dup, NM_001394713.1:c.1248dup, NM_001369898.1:c.1248dup, NR_027693.1:n.942dup, NP_001278295.1:p.Ala417fs, NP_001278296.2:p.Ala303fs, NP_001356826.1:p.Ala417fs, NP_001381642.1:p.Ala417fs, NP_001356827.1:p.Ala417fs

Select item 148469854416.

rs1484698544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:980540 (GRCh38)
1:915920 (GRCh37)
Canonical SPDI:: NC_000001.11:980539:T:C
Gene:: PERM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.980540T>C, NC_000001.10:g.915920T>C, NM_001291366.2:c.490A>G, NM_001291366.1:c.490A>G, NM_001291367.2:c.148A>G, NM_001291367.1:c.208A>G, NM_001369897.1:c.490A>G, NM_001394713.1:c.490A>G, NM_001369898.1:c.490A>G, NR_027693.1:n.184A>G, NP_001278295.1:p.Thr164Ala, NP_001278296.2:p.Thr50Ala, NP_001356826.1:p.Thr164Ala, NP_001381642.1:p.Thr164Ala, NP_001356827.1:p.Thr164Ala

Select item 148464014517.

rs1484640145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:980277 (GRCh38)
1:915657 (GRCh37)
Canonical SPDI:: NC_000001.11:980276:T:C
Gene:: PERM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.980277T>C, NC_000001.10:g.915657T>C, NM_001291366.2:c.753A>G, NM_001291366.1:c.753A>G, NM_001291367.2:c.411A>G, NM_001291367.1:c.471A>G, NM_001369897.1:c.753A>G, NM_001394713.1:c.753A>G, NM_001369898.1:c.753A>G, NR_027693.1:n.447A>G

Select item 148440306818.

rs1484403068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:979879 (GRCh38)
1:915259 (GRCh37)
Canonical SPDI:: NC_000001.11:979878:A:G
Gene:: PERM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.979879A>G, NC_000001.10:g.915259A>G, NM_001291366.2:c.1151T>C, NM_001291366.1:c.1151T>C, NM_001291367.2:c.809T>C, NM_001291367.1:c.869T>C, NM_001369897.1:c.1151T>C, NM_001394713.1:c.1151T>C, NM_001369898.1:c.1151T>C, NR_027693.1:n.845T>C, NP_001278295.1:p.Val384Ala, NP_001278296.2:p.Val270Ala, NP_001356826.1:p.Val384Ala, NP_001381642.1:p.Val384Ala, NP_001356827.1:p.Val384Ala

Select item 148225212919.

rs1482252129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:979990 (GRCh38)
1:915370 (GRCh37)
Canonical SPDI:: NC_000001.11:979989:G:A
Gene:: PERM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.00002/3 (GnomAD_exomes)
A=0.00411/12 (KOREAN)
HGVS:: NC_000001.11:g.979990G>A, NC_000001.10:g.915370G>A, NM_001291366.2:c.1040C>T, NM_001291366.1:c.1040C>T, NM_001291367.2:c.698C>T, NM_001291367.1:c.758C>T, NM_001369897.1:c.1040C>T, NM_001394713.1:c.1040C>T, NM_001369898.1:c.1040C>T, NR_027693.1:n.734C>T, NP_001278295.1:p.Thr347Ile, NP_001278296.2:p.Thr233Ile, NP_001356826.1:p.Thr347Ile, NP_001381642.1:p.Thr347Ile, NP_001356827.1:p.Thr347Ile

Select item 148198095120.

rs1481980951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:980872 (GRCh38)
1:916252 (GRCh37)
Canonical SPDI:: NC_000001.11:980871:G:A
Gene:: PERM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.980872G>A, NC_000001.10:g.916252G>A, NM_001291366.2:c.158C>T, NM_001291366.1:c.158C>T, NM_001369897.1:c.158C>T, NM_001394713.1:c.158C>T, NM_001369898.1:c.158C>T, NP_001278295.1:p.Pro53Leu, NP_001356826.1:p.Pro53Leu, NP_001381642.1:p.Pro53Leu, NP_001356827.1:p.Pro53Leu

dbSNP

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