SNP Links for Protein (Select 537361044) - SNP

Links from Protein

Items: 1 to 20 of 461

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Select item 14907432251.

rs1490743225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 22:30581599 (GRCh38)
22:30977586 (GRCh37)
Canonical SPDI:: NC_000022.11:30581598:A:C,NC_000022.11:30581598:A:T
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.05909/954 (ALFA)
T=0.00068/2 (KOREAN)
T=0.00237/40 (TOMMO)
HGVS:: NC_000022.11:g.30581599A>C, NC_000022.11:g.30581599A>T, NC_000022.10:g.30977586A>C, NC_000022.10:g.30977586A>T, NM_014303.4:c.676T>G, NM_014303.4:c.676T>A, NM_014303.3:c.676T>G, NM_014303.3:c.676T>A, NR_036550.2:n.1181T>G, NR_036550.2:n.1181T>A, NM_001243225.2:c.676T>G, NM_001243225.2:c.676T>A, NM_001243225.1:c.676T>G, NM_001243225.1:c.676T>A, NM_001282328.1:c.259T>G, NM_001282328.1:c.259T>A, NM_001282327.1:c.259T>G, NM_001282327.1:c.259T>A, NP_055118.1:p.Phe226Val, NP_055118.1:p.Phe226Ile, NP_001230154.1:p.Phe226Val, NP_001230154.1:p.Phe226Ile, NP_001269257.1:p.Phe87Val, NP_001269257.1:p.Phe87Ile, NP_001269256.1:p.Phe87Val, NP_001269256.1:p.Phe87Ile

Select item 14872963022.

rs1487296302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30581066 (GRCh38)
22:30977053 (GRCh37)
Canonical SPDI:: NC_000022.11:30581065:C:T
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30581066C>T, NC_000022.10:g.30977053C>T, NM_014303.4:c.858G>A, NM_014303.3:c.858G>A, NR_036550.2:n.1363G>A, NM_001243225.2:c.858G>A, NM_001243225.1:c.858G>A, NM_001282328.1:c.441G>A, NM_001282327.1:c.441G>A

Select item 14855047633.

rs1485504763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30584424 (GRCh38)
22:30980411 (GRCh37)
Canonical SPDI:: NC_000022.11:30584423:G:A
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30584424G>A, NC_000022.10:g.30980411G>A, NM_014303.4:c.571C>T, NM_014303.3:c.571C>T, NR_036550.2:n.1076C>T, NM_001243225.2:c.571C>T, NM_001243225.1:c.571C>T, NM_001282328.1:c.154C>T, NM_001282327.1:c.154C>T, NP_055118.1:p.Gln191Ter, NP_001230154.1:p.Gln191Ter, NP_001269257.1:p.Gln52Ter, NP_001269256.1:p.Gln52Ter

Select item 14843456994.

rs1484345699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30580129 (GRCh38)
22:30976116 (GRCh37)
Canonical SPDI:: NC_000022.11:30580128:T:C
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30580129T>C, NC_000022.10:g.30976116T>C, NM_014303.4:c.1093A>G, NM_014303.3:c.1093A>G, NR_036550.2:n.1598A>G, NM_001243225.2:c.1078A>G, NM_001243225.1:c.1078A>G, NM_001282328.1:c.676A>G, NM_001282327.1:c.676A>G, NP_055118.1:p.Thr365Ala, NP_001230154.1:p.Thr360Ala, NP_001269257.1:p.Thr226Ala, NP_001269256.1:p.Thr226Ala

Select item 14841597065.

rs1484159706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30579278 (GRCh38)
22:30975265 (GRCh37)
Canonical SPDI:: NC_000022.11:30579277:C:T
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30579278C>T, NC_000022.10:g.30975265C>T, NM_014303.4:c.1380G>A, NM_014303.3:c.1380G>A, NR_036550.2:n.1885G>A, NM_001243225.2:c.1365G>A, NM_001243225.1:c.1365G>A, NM_001282328.1:c.963G>A, NM_001282327.1:c.963G>A

Select item 14808816926.

rs1480881692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30584433 (GRCh38)
22:30980420 (GRCh37)
Canonical SPDI:: NC_000022.11:30584432:T:C
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30584433T>C, NC_000022.10:g.30980420T>C, NM_014303.4:c.562A>G, NM_014303.3:c.562A>G, NR_036550.2:n.1067A>G, NM_001243225.2:c.562A>G, NM_001243225.1:c.562A>G, NM_001282328.1:c.145A>G, NM_001282327.1:c.145A>G, NP_055118.1:p.Ile188Val, NP_001230154.1:p.Ile188Val, NP_001269257.1:p.Ile49Val, NP_001269256.1:p.Ile49Val

Select item 14773139057.

rs1477313905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30579235 (GRCh38)
22:30975222 (GRCh37)
Canonical SPDI:: NC_000022.11:30579234:C:T
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000102/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30579235C>T, NC_000022.10:g.30975222C>T, NM_014303.4:c.1423G>A, NM_014303.3:c.1423G>A, NR_036550.2:n.1928G>A, NM_001243225.2:c.1408G>A, NM_001243225.1:c.1408G>A, NM_001282328.1:c.1006G>A, NM_001282327.1:c.1006G>A, NP_055118.1:p.Gly475Arg, NP_001230154.1:p.Gly470Arg, NP_001269257.1:p.Gly336Arg, NP_001269256.1:p.Gly336Arg

Select item 14756439068.

rs1475643906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:30581604 (GRCh38)
22:30977591 (GRCh37)
Canonical SPDI:: NC_000022.11:30581603:G:A,NC_000022.11:30581603:G:C
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30581604G>A, NC_000022.11:g.30581604G>C, NC_000022.10:g.30977591G>A, NC_000022.10:g.30977591G>C, NM_014303.4:c.671C>T, NM_014303.4:c.671C>G, NM_014303.3:c.671C>T, NM_014303.3:c.671C>G, NR_036550.2:n.1176C>T, NR_036550.2:n.1176C>G, NM_001243225.2:c.671C>T, NM_001243225.2:c.671C>G, NM_001243225.1:c.671C>T, NM_001243225.1:c.671C>G, NM_001282328.1:c.254C>T, NM_001282328.1:c.254C>G, NM_001282327.1:c.254C>T, NM_001282327.1:c.254C>G, NP_055118.1:p.Thr224Ile, NP_055118.1:p.Thr224Ser, NP_001230154.1:p.Thr224Ile, NP_001230154.1:p.Thr224Ser, NP_001269257.1:p.Thr85Ile, NP_001269257.1:p.Thr85Ser, NP_001269256.1:p.Thr85Ile, NP_001269256.1:p.Thr85Ser

Select item 14712938109.

rs1471293810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30584369 (GRCh38)
22:30980356 (GRCh37)
Canonical SPDI:: NC_000022.11:30584368:T:C
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30584369T>C, NC_000022.10:g.30980356T>C, NM_014303.4:c.626A>G, NM_014303.3:c.626A>G, NR_036550.2:n.1131A>G, NM_001243225.2:c.626A>G, NM_001243225.1:c.626A>G, NM_001282328.1:c.209A>G, NM_001282327.1:c.209A>G, NP_055118.1:p.His209Arg, NP_001230154.1:p.His209Arg, NP_001269257.1:p.His70Arg, NP_001269256.1:p.His70Arg

Select item 147009607510.

rs1470096075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:30579775 (GRCh38)
22:30975762 (GRCh37)
Canonical SPDI:: NC_000022.11:30579774:C:A
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.30579775C>A, NC_000022.10:g.30975762C>A, NM_014303.4:c.1330G>T, NM_014303.3:c.1330G>T, NR_036550.2:n.1835G>T, NM_001243225.2:c.1315G>T, NM_001243225.1:c.1315G>T, NM_001282328.1:c.913G>T, NM_001282327.1:c.913G>T, NP_055118.1:p.Ala444Ser, NP_001230154.1:p.Ala439Ser, NP_001269257.1:p.Ala305Ser, NP_001269256.1:p.Ala305Ser

Select item 146975558811.

rs1469755588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30584444 (GRCh38)
22:30980431 (GRCh37)
Canonical SPDI:: NC_000022.11:30584443:G:A
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.30584444G>A, NC_000022.10:g.30980431G>A, NM_014303.4:c.551C>T, NM_014303.3:c.551C>T, NR_036550.2:n.1056C>T, NM_001243225.2:c.551C>T, NM_001243225.1:c.551C>T, NM_001282328.1:c.134C>T, NM_001282327.1:c.134C>T, NP_055118.1:p.Ser184Phe, NP_001230154.1:p.Ser184Phe, NP_001269257.1:p.Ser45Phe, NP_001269256.1:p.Ser45Phe

Select item 146964314712.

rs1469643147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30581065 (GRCh38)
22:30977052 (GRCh37)
Canonical SPDI:: NC_000022.11:30581064:C:T
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30581065C>T, NC_000022.10:g.30977052C>T, NM_014303.4:c.859G>A, NM_014303.3:c.859G>A, NR_036550.2:n.1364G>A, NM_001243225.2:c.859G>A, NM_001243225.1:c.859G>A, NM_001282328.1:c.442G>A, NM_001282327.1:c.442G>A, NP_055118.1:p.Val287Met, NP_001230154.1:p.Val287Met, NP_001269257.1:p.Val148Met, NP_001269256.1:p.Val148Met

Select item 146902610613.

rs1469026106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30584405 (GRCh38)
22:30980392 (GRCh37)
Canonical SPDI:: NC_000022.11:30584404:T:C
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30584405T>C, NC_000022.10:g.30980392T>C, NM_014303.4:c.590A>G, NM_014303.3:c.590A>G, NR_036550.2:n.1095A>G, NM_001243225.2:c.590A>G, NM_001243225.1:c.590A>G, NM_001282328.1:c.173A>G, NM_001282327.1:c.173A>G, NP_055118.1:p.Gln197Arg, NP_001230154.1:p.Gln197Arg, NP_001269257.1:p.Gln58Arg, NP_001269256.1:p.Gln58Arg

Select item 146628206114.

rs1466282061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30578918 (GRCh38)
22:30974905 (GRCh37)
Canonical SPDI:: NC_000022.11:30578917:G:C
Gene:: PES1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30578918G>C, NC_000022.10:g.30974905G>C, NM_014303.4:c.1602C>G, NM_014303.3:c.1602C>G, NR_036550.2:n.2107C>G, NM_001243225.2:c.1587C>G, NM_001243225.1:c.1587C>G, NM_001282328.1:c.1185C>G, NM_001282327.1:c.1185C>G

Select item 146443107215.

rs1464431072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:30579901 (GRCh38)
22:30975888 (GRCh37)
Canonical SPDI:: NC_000022.11:30579900:C:A
Gene:: PES1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30579901C>A, NC_000022.10:g.30975888C>A, NM_014303.4:c.1204G>T, NM_014303.3:c.1204G>T, NR_036550.2:n.1709G>T, NM_001243225.2:c.1189G>T, NM_001243225.1:c.1189G>T, NM_001282328.1:c.787G>T, NM_001282327.1:c.787G>T, NP_055118.1:p.Val402Leu, NP_001230154.1:p.Val397Leu, NP_001269257.1:p.Val263Leu, NP_001269256.1:p.Val263Leu

Select item 146388163016.

rs1463881630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30579203 (GRCh38)
22:30975190 (GRCh37)
Canonical SPDI:: NC_000022.11:30579202:C:T
Gene:: PES1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.30579203C>T, NC_000022.10:g.30975190C>T, NM_014303.4:c.1455G>A, NM_014303.3:c.1455G>A, NR_036550.2:n.1960G>A, NM_001243225.2:c.1440G>A, NM_001243225.1:c.1440G>A, NM_001282328.1:c.1038G>A, NM_001282327.1:c.1038G>A

Select item 146330809317.

rs1463308093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30578901 (GRCh38)
22:30974888 (GRCh37)
Canonical SPDI:: NC_000022.11:30578900:A:G
Gene:: PES1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30578901A>G, NC_000022.10:g.30974888A>G, NM_014303.4:c.1619T>C, NM_014303.3:c.1619T>C, NR_036550.2:n.2124T>C, NM_001243225.2:c.1604T>C, NM_001243225.1:c.1604T>C, NM_001282328.1:c.1202T>C, NM_001282327.1:c.1202T>C, NP_055118.1:p.Met540Thr, NP_001230154.1:p.Met535Thr, NP_001269257.1:p.Met401Thr, NP_001269256.1:p.Met401Thr

Select item 146262646518.

rs1462626465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30584554 (GRCh38)
22:30980541 (GRCh37)
Canonical SPDI:: NC_000022.11:30584553:G:C
Gene:: PES1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0003/1 (KOREAN)
HGVS:: NC_000022.11:g.30584554G>C, NC_000022.10:g.30980541G>C, NM_014303.4:c.532C>G, NM_014303.3:c.532C>G, NR_036550.2:n.1037C>G, NM_001243225.2:c.532C>G, NM_001243225.1:c.532C>G, NM_001282328.1:c.115C>G, NM_001282327.1:c.115C>G, NP_055118.1:p.Leu178Val, NP_001230154.1:p.Leu178Val, NP_001269257.1:p.Leu39Val, NP_001269256.1:p.Leu39Val

Select item 146216844419.

rs1462168444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:30579173 (GRCh38)
22:30975160 (GRCh37)
Canonical SPDI:: NC_000022.11:30579172:C:G
Gene:: PES1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30579173C>G, NC_000022.10:g.30975160C>G, NM_014303.4:c.1485G>C, NM_014303.3:c.1485G>C, NR_036550.2:n.1990G>C, NM_001243225.2:c.1470G>C, NM_001243225.1:c.1470G>C, NM_001282328.1:c.1068G>C, NM_001282327.1:c.1068G>C

Select item 146158467520.

rs1461584675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30581543 (GRCh38)
22:30977530 (GRCh37)
Canonical SPDI:: NC_000022.11:30581542:G:C
Gene:: PES1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30581543G>C, NC_000022.10:g.30977530G>C, NM_014303.4:c.732C>G, NM_014303.3:c.732C>G, NR_036550.2:n.1237C>G, NM_001243225.2:c.732C>G, NM_001243225.1:c.732C>G, NM_001282328.1:c.315C>G, NM_001282327.1:c.315C>G

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