SNP Links for Protein (Select 1237937977) - SNP

Links from Protein

Items: 1 to 20 of 116

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Select item 14844675571.

rs1484467557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81181627 (GRCh38)
17:79155427 (GRCh37)
Canonical SPDI:: NC_000017.11:81181626:G:A,NC_000017.11:81181626:G:T
Gene:: PVALEF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.81181627G>A, NC_000017.11:g.81181627G>T, NC_000017.10:g.79155427G>A, NC_000017.10:g.79155427G>T, NM_001354639.2:c.175G>A, NM_001354639.2:c.175G>T, NM_001354639.1:c.175G>A, NM_001354639.1:c.175G>T, NR_027255.1:n.923G>A, NR_027255.1:n.923G>T, NM_207389.1:c.*98G>A, NM_207389.1:c.*98G>T, NP_001341568.1:p.Ala59Thr, NP_001341568.1:p.Ala59Ser

Select item 14795025672.

rs1479502567 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:81181984 (GRCh38)
17:79155784 (GRCh37)
Canonical SPDI:: NC_000017.11:81181983:CCCC:CCC
Gene:: PVALEF (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81181987del, NC_000017.10:g.79155787del, NM_001354639.2:c.264del, NM_001354639.1:c.264del, NR_027255.1:n.1283del, NM_207389.1:c.*458T>C, NM_207389.1:c.*458del, NP_001341568.1:p.Ser89fs

Select item 14700680803.

rs1470068080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:81181689 (GRCh38)
17:79155489 (GRCh37)
Canonical SPDI:: NC_000017.11:81181688:G:C,NC_000017.11:81181688:G:T
Gene:: PVALEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81181689G>C, NC_000017.11:g.81181689G>T, NC_000017.10:g.79155489G>C, NC_000017.10:g.79155489G>T, NM_001354639.2:c.237G>C, NM_001354639.2:c.237G>T, NM_001354639.1:c.237G>C, NM_001354639.1:c.237G>T, NR_027255.1:n.985G>C, NR_027255.1:n.985G>T, NM_207389.1:c.*160G>C, NM_207389.1:c.*160G>T, NP_001341568.1:p.Glu79Asp, NP_001341568.1:p.Glu79Asp

Select item 14612086684.

rs1461208668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81181320 (GRCh38)
17:79155120 (GRCh37)
Canonical SPDI:: NC_000017.11:81181319:A:G
Gene:: PVALEF (Varview)
Functional Consequence:: 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_000017.11:g.81181320A>G, NC_000017.10:g.79155120A>G, NM_001354639.2:c.94A>G, NM_001354639.1:c.94A>G, NR_027255.1:n.842A>G, NM_207389.1:c.*17A>G, NP_001341568.1:p.Met32Val

Select item 14556611795.

rs1455661179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81181300 (GRCh38)
17:79155100 (GRCh37)
Canonical SPDI:: NC_000017.11:81181299:T:C
Gene:: PVALEF (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=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.81181300T>C, NC_000017.10:g.79155100T>C, NM_001354639.2:c.74T>C, NM_001354639.1:c.74T>C, NR_027255.1:n.822T>C, NM_207389.1:c.762T>C, NP_001341568.1:p.Ile25Thr

Select item 14521045156.

rs1452104515 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 17:81181245 (GRCh38)
17:79155045 (GRCh37)
Canonical SPDI:: NC_000017.11:81181240:CTCCTCC:CTCC
Gene:: PVALEF (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCC=0./0 (ALFA)
-=0.000035/5 (GnomAD_exomes)
-=0.000043/6 (GnomAD)
-=0.000064/17 (TOPMED)
-=0.000119/1 (GoESP)
-=0.000779/13 (TOMMO)
-=0.001641/3 (Korea1K)
HGVS:: NC_000017.11:g.81181242TCC[1], NC_000017.10:g.79155042TCC[1], NM_001354639.2:c.16TCC[1], NM_001354639.1:c.16TCC[1], NR_027255.1:n.764TCC[1], NM_207389.1:c.704TCC[1], NP_001341568.1:p.Ser7del

Select item 14438081737.

rs1443808173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81181329 (GRCh38)
17:79155129 (GRCh37)
Canonical SPDI:: NC_000017.11:81181328:C:T
Gene:: PVALEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00069/2 (KOREAN)
HGVS:: NC_000017.11:g.81181329C>T, NC_000017.10:g.79155129C>T, NM_001354639.2:c.103C>T, NM_001354639.1:c.103C>T, NR_027255.1:n.851C>T, NM_207389.1:c.*26C>T, NP_001341568.1:p.His35Tyr

Select item 14366347478.

rs1436634747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:81181231 (GRCh38)
17:79155031 (GRCh37)
Canonical SPDI:: NC_000017.11:81181230:A:T
Gene:: PVALEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81181231A>T, NC_000017.10:g.79155031A>T, NM_001354639.2:c.5A>T, NM_001354639.1:c.5A>T, NR_027255.1:n.753A>T, NM_207389.1:c.693A>T, NP_001341568.1:p.Glu2Val

Select item 14334826669.

rs1433482666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81182028 (GRCh38)
17:79155828 (GRCh37)
Canonical SPDI:: NC_000017.11:81182027:A:G
Gene:: PVALEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81182028A>G, NC_000017.10:g.79155828A>G, NM_001354639.2:c.305A>G, NM_001354639.1:c.305A>G, NR_027255.1:n.1324A>G, NM_207389.1:c.*499A>G, NP_001341568.1:p.Glu102Gly

Select item 143280455310.

rs1432804553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:81183006 (GRCh38)
17:79156806 (GRCh37)
Canonical SPDI:: NC_000017.11:81183005:A:T
Gene:: PVALEF (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.81183006A>T, NC_000017.10:g.79156806A>T, NM_001354639.2:c.400A>T, NM_001354639.1:c.400A>T, NR_027255.1:n.1419A>T, NM_207389.1:c.*594A>T, NP_001341568.1:p.Lys134Ter

Select item 141762877411.

rs1417628774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81181312 (GRCh38)
17:79155112 (GRCh37)
Canonical SPDI:: NC_000017.11:81181311:C:T
Gene:: PVALEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.81181312C>T, NC_000017.10:g.79155112C>T, NM_001354639.2:c.86C>T, NM_001354639.1:c.86C>T, NR_027255.1:n.834C>T, NM_207389.1:c.*9C>T, NP_001341568.1:p.Pro29Leu

Select item 141600578712.

rs1416005787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81182057 (GRCh38)
17:79155857 (GRCh37)
Canonical SPDI:: NC_000017.11:81182056:G:A,NC_000017.11:81182056:G:C
Gene:: PVALEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.81182057G>A, NC_000017.11:g.81182057G>C, NC_000017.10:g.79155857G>A, NC_000017.10:g.79155857G>C, NM_001354639.2:c.334G>A, NM_001354639.2:c.334G>C, NM_001354639.1:c.334G>A, NM_001354639.1:c.334G>C, NR_027255.1:n.1353G>A, NR_027255.1:n.1353G>C, NM_207389.1:c.*528G>A, NM_207389.1:c.*528G>C, NP_001341568.1:p.Gly112Arg, NP_001341568.1:p.Gly112Arg

Select item 141023383413.

rs1410233834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81181293 (GRCh38)
17:79155093 (GRCh37)
Canonical SPDI:: NC_000017.11:81181292:A:G
Gene:: PVALEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81181293A>G, NC_000017.10:g.79155093A>G, NM_001354639.2:c.67A>G, NM_001354639.1:c.67A>G, NR_027255.1:n.815A>G, NM_207389.1:c.755A>G, NP_001341568.1:p.Lys23Glu

Select item 140932730714.

rs1409327307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81182978 (GRCh38)
17:79156778 (GRCh37)
Canonical SPDI:: NC_000017.11:81182977:G:A,NC_000017.11:81182977:G:C
Gene:: PVALEF (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.81182978G>A, NC_000017.11:g.81182978G>C, NC_000017.10:g.79156778G>A, NC_000017.10:g.79156778G>C, NM_001354639.2:c.372G>A, NM_001354639.2:c.372G>C, NM_001354639.1:c.372G>A, NM_001354639.1:c.372G>C, NR_027255.1:n.1391G>A, NR_027255.1:n.1391G>C, NM_207389.1:c.*566G>A, NM_207389.1:c.*566G>C, NP_001341568.1:p.Leu124Phe

Select item 139832387715.

rs1398323877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81181324 (GRCh38)
17:79155124 (GRCh37)
Canonical SPDI:: NC_000017.11:81181323:G:A,NC_000017.11:81181323:G:C
Gene:: PVALEF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81181324G>A, NC_000017.11:g.81181324G>C, NC_000017.10:g.79155124G>A, NC_000017.10:g.79155124G>C, NM_001354639.2:c.98G>A, NM_001354639.2:c.98G>C, NM_001354639.1:c.98G>A, NM_001354639.1:c.98G>C, NR_027255.1:n.846G>A, NR_027255.1:n.846G>C, NM_207389.1:c.*21G>A, NM_207389.1:c.*21G>C, NP_001341568.1:p.Arg33Lys, NP_001341568.1:p.Arg33Thr

Select item 139724208416.

rs1397242084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81181326 (GRCh38)
17:79155126 (GRCh37)
Canonical SPDI:: NC_000017.11:81181325:C:G,NC_000017.11:81181325:C:T
Gene:: PVALEF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.81181326C>G, NC_000017.11:g.81181326C>T, NC_000017.10:g.79155126C>G, NC_000017.10:g.79155126C>T, NM_001354639.2:c.100C>G, NM_001354639.2:c.100C>T, NM_001354639.1:c.100C>G, NM_001354639.1:c.100C>T, NR_027255.1:n.848C>G, NR_027255.1:n.848C>T, NM_207389.1:c.*23C>G, NM_207389.1:c.*23C>T, NP_001341568.1:p.His34Asp, NP_001341568.1:p.His34Tyr

Select item 139604191117.

rs1396041911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:81181602 (GRCh38)
17:79155402 (GRCh37)
Canonical SPDI:: NC_000017.11:81181601:C:G
Gene:: PVALEF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81181602C>G, NC_000017.10:g.79155402C>G, NM_001354639.2:c.150C>G, NM_001354639.1:c.150C>G, NR_027255.1:n.898C>G, NM_207389.1:c.*73C>G

Select item 139338909718.

rs1393389097 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 17:81181235 (GRCh38)
17:79155035 (GRCh37)
Canonical SPDI:: NC_000017.11:81181228:GGAGGAGGA:GGAGGA
Gene:: PVALEF (Varview)
Functional Consequence:: inframe_deletion,initiator_codon_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81181229GGA[2], NC_000017.10:g.79155029GGA[2], NM_001354639.2:c.3GGA[2], NM_001354639.1:c.3GGA[2], NR_027255.1:n.751GGA[2], NM_207389.1:c.691GGA[2], NP_001341568.1:p.Glu3del

Select item 139303277519.

rs1393032775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81181671 (GRCh38)
17:79155471 (GRCh37)
Canonical SPDI:: NC_000017.11:81181670:C:T
Gene:: PVALEF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81181671C>T, NC_000017.10:g.79155471C>T, NM_001354639.2:c.219C>T, NM_001354639.1:c.219C>T, NR_027255.1:n.967C>T, NM_207389.1:c.*142C>T

Select item 138769707520.

rs1387697075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81183009 (GRCh38)
17:79156809 (GRCh37)
Canonical SPDI:: NC_000017.11:81183008:T:C
Gene:: PVALEF (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81183009T>C, NC_000017.10:g.79156809T>C, NM_001354639.2:c.403T>C, NM_001354639.1:c.403T>C, NR_027255.1:n.1422T>C, NM_207389.1:c.*597T>C, NP_001341568.1:p.Ter135Gln

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