SNP Links for Protein (Select 557357743) - SNP

Select item 14854375221.

rs1485437522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:64823969 (GRCh38)
15:65116168 (GRCh37)
Canonical SPDI:: NC_000015.10:64823968:T:A
Gene:: PIF1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.64823969T>A, NC_000015.9:g.65116168T>A, NM_025049.4:c.367A>T, NM_025049.3:c.367A>T, NM_025049.2:c.367A>T, XM_011522084.3:c.367A>T, XM_011522084.2:c.367A>T, XM_011522084.1:c.367A>T, XM_011522083.3:c.367A>T, XM_011522083.2:c.367A>T, XM_011522083.1:c.367A>T, NM_001286499.2:c.208A>T, NM_001286499.1:c.208A>T, NM_001286496.2:c.367A>T, NM_001286496.1:c.367A>T, NM_001286497.2:c.367A>T, NM_001286497.1:c.367A>T, XM_047433140.1:c.367A>T, NP_079325.2:p.Lys123Ter, XP_011520386.1:p.Lys123Ter, XP_011520385.1:p.Lys123Ter, NP_001273428.1:p.Lys70Ter, NP_001273425.1:p.Lys123Ter, NP_001273426.1:p.Lys123Ter, XP_047289096.1:p.Lys123Ter

Select item 14831627032.

rs1483162703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64824328 (GRCh38)
15:65116527 (GRCh37)
Canonical SPDI:: NC_000015.10:64824327:G:A
Gene:: PIF1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000057/8 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000015.10:g.64824328G>A, NC_000015.9:g.65116527G>A, NM_025049.4:c.8C>T, NM_025049.3:c.8C>T, NM_025049.2:c.8C>T, XM_011522084.3:c.8C>T, XM_011522084.2:c.8C>T, XM_011522084.1:c.8C>T, XM_011522083.3:c.8C>T, XM_011522083.2:c.8C>T, XM_011522083.1:c.8C>T, NM_001286499.2:c.-152C>T, NM_001286499.1:c.-152C>T, NM_001286496.2:c.8C>T, NM_001286496.1:c.8C>T, NM_001286497.2:c.8C>T, NM_001286497.1:c.8C>T, XM_047433140.1:c.8C>T, NP_079325.2:p.Ser3Leu, XP_011520386.1:p.Ser3Leu, XP_011520385.1:p.Ser3Leu, NP_001273425.1:p.Ser3Leu, NP_001273426.1:p.Ser3Leu, XP_047289096.1:p.Ser3Leu

Select item 14826527493.

rs1482652749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:64824121 (GRCh38)
15:65116320 (GRCh37)
Canonical SPDI:: NC_000015.10:64824120:C:A
Gene:: PIF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.0007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64824121C>A, NC_000015.9:g.65116320C>A, NM_025049.4:c.215G>T, NM_025049.3:c.215G>T, NM_025049.2:c.215G>T, XM_011522084.3:c.215G>T, XM_011522084.2:c.215G>T, XM_011522084.1:c.215G>T, XM_011522083.3:c.215G>T, XM_011522083.2:c.215G>T, XM_011522083.1:c.215G>T, NM_001286499.2:c.56G>T, NM_001286499.1:c.56G>T, NM_001286496.2:c.215G>T, NM_001286496.1:c.215G>T, NM_001286497.2:c.215G>T, NM_001286497.1:c.215G>T, XM_047433140.1:c.215G>T, NP_079325.2:p.Arg72Leu, XP_011520386.1:p.Arg72Leu, XP_011520385.1:p.Arg72Leu, NP_001273428.1:p.Arg19Leu, NP_001273425.1:p.Arg72Leu, NP_001273426.1:p.Arg72Leu, XP_047289096.1:p.Arg72Leu

Select item 14809434184.

rs1480943418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:64824038 (GRCh38)
15:65116237 (GRCh37)
Canonical SPDI:: NC_000015.10:64824037:C:A,NC_000015.10:64824037:C:T
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.64824038C>A, NC_000015.10:g.64824038C>T, NC_000015.9:g.65116237C>A, NC_000015.9:g.65116237C>T, NM_025049.4:c.298G>T, NM_025049.4:c.298G>A, NM_025049.3:c.298G>T, NM_025049.3:c.298G>A, NM_025049.2:c.298G>T, NM_025049.2:c.298G>A, XM_011522084.3:c.298G>T, XM_011522084.3:c.298G>A, XM_011522084.2:c.298G>T, XM_011522084.2:c.298G>A, XM_011522084.1:c.298G>T, XM_011522084.1:c.298G>A, XM_011522083.3:c.298G>T, XM_011522083.3:c.298G>A, XM_011522083.2:c.298G>T, XM_011522083.2:c.298G>A, XM_011522083.1:c.298G>T, XM_011522083.1:c.298G>A, NM_001286499.2:c.139G>T, NM_001286499.2:c.139G>A, NM_001286499.1:c.139G>T, NM_001286499.1:c.139G>A, NM_001286496.2:c.298G>T, NM_001286496.2:c.298G>A, NM_001286496.1:c.298G>T, NM_001286496.1:c.298G>A, NM_001286497.2:c.298G>T, NM_001286497.2:c.298G>A, NM_001286497.1:c.298G>T, NM_001286497.1:c.298G>A, XM_047433140.1:c.298G>T, XM_047433140.1:c.298G>A, NP_079325.2:p.Ala100Ser, NP_079325.2:p.Ala100Thr, XP_011520386.1:p.Ala100Ser, XP_011520386.1:p.Ala100Thr, XP_011520385.1:p.Ala100Ser, XP_011520385.1:p.Ala100Thr, NP_001273428.1:p.Ala47Ser, NP_001273428.1:p.Ala47Thr, NP_001273425.1:p.Ala100Ser, NP_001273425.1:p.Ala100Thr, NP_001273426.1:p.Ala100Ser, NP_001273426.1:p.Ala100Thr, XP_047289096.1:p.Ala100Ser, XP_047289096.1:p.Ala100Thr

Select item 14799403315.

rs1479940331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64816658 (GRCh38)
15:65108857 (GRCh37)
Canonical SPDI:: NC_000015.10:64816657:C:T
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000528/8 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000093/13 (GnomAD)
T=0.001786/8 (Estonian)
HGVS:: NC_000015.10:g.64816658C>T, NC_000015.9:g.65108857C>T, NM_025049.4:c.1782G>A, NM_025049.3:c.1782G>A, NM_025049.2:c.1782G>A, XM_011522084.3:c.1782G>A, XM_011522084.2:c.1782G>A, XM_011522084.1:c.1782G>A, XM_011522083.3:c.1782G>A, XM_011522083.2:c.1782G>A, XM_011522083.1:c.1782G>A, NM_001286499.2:c.1623G>A, NM_001286499.1:c.1623G>A, NM_001286496.2:c.1782G>A, NM_001286496.1:c.1782G>A, NM_001286497.2:c.1782G>A, NM_001286497.1:c.1782G>A

Select item 14783789846.

rs1478378984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:64819126 (GRCh38)
15:65111325 (GRCh37)
Canonical SPDI:: NC_000015.10:64819125:C:A
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.64819126C>A, NC_000015.9:g.65111325C>A, NM_025049.4:c.1431G>T, NM_025049.3:c.1431G>T, NM_025049.2:c.1431G>T, XM_011522084.3:c.1431G>T, XM_011522084.2:c.1431G>T, XM_011522084.1:c.1431G>T, XM_011522083.3:c.1431G>T, XM_011522083.2:c.1431G>T, XM_011522083.1:c.1431G>T, NM_001286499.2:c.1272G>T, NM_001286499.1:c.1272G>T, NM_001286496.2:c.1431G>T, NM_001286496.1:c.1431G>T, NM_001286497.2:c.1431G>T, NM_001286497.1:c.1431G>T

Select item 14779789157.

rs1477978915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64824282 (GRCh38)
15:65116481 (GRCh37)
Canonical SPDI:: NC_000015.10:64824281:C:T
Gene:: PIF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.64824282C>T, NC_000015.9:g.65116481C>T, NM_025049.4:c.54G>A, NM_025049.3:c.54G>A, NM_025049.2:c.54G>A, XM_011522084.3:c.54G>A, XM_011522084.2:c.54G>A, XM_011522084.1:c.54G>A, XM_011522083.3:c.54G>A, XM_011522083.2:c.54G>A, XM_011522083.1:c.54G>A, NM_001286499.2:c.-106G>A, NM_001286499.1:c.-106G>A, NM_001286496.2:c.54G>A, NM_001286496.1:c.54G>A, NM_001286497.2:c.54G>A, NM_001286497.1:c.54G>A, XM_047433140.1:c.54G>A

Select item 14765383268.

rs1476538326 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:64822377 (GRCh38)
15:65114576 (GRCh37)
Canonical SPDI:: NC_000015.10:64822374:ATAT:AT
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64822375AT[1], NC_000015.9:g.65114574AT[1], NM_025049.4:c.707_708del, NM_025049.3:c.707_708del, NM_025049.2:c.707_708del, XM_011522084.3:c.707_708del, XM_011522084.2:c.707_708del, XM_011522084.1:c.707_708del, XM_011522083.3:c.707_708del, XM_011522083.2:c.707_708del, XM_011522083.1:c.707_708del, NM_001286499.2:c.548_549del, NM_001286499.1:c.548_549del, NM_001286496.2:c.707_708del, NM_001286496.1:c.707_708del, NM_001286497.2:c.707_708del, NM_001286497.1:c.707_708del, XM_047433140.1:c.707_708del, NP_079325.2:p.Tyr236fs, XP_011520386.1:p.Tyr236fs, XP_011520385.1:p.Tyr236fs, NP_001273428.1:p.Tyr183fs, NP_001273425.1:p.Tyr236fs, NP_001273426.1:p.Tyr236fs, XP_047289096.1:p.Tyr236fs

Select item 14727497609.

rs1472749760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:64824175 (GRCh38)
15:65116374 (GRCh37)
Canonical SPDI:: NC_000015.10:64824174:A:G
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000671/3 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000015.10:g.64824175A>G, NC_000015.9:g.65116374A>G, NM_025049.4:c.161T>C, NM_025049.3:c.161T>C, NM_025049.2:c.161T>C, XM_011522084.3:c.161T>C, XM_011522084.2:c.161T>C, XM_011522084.1:c.161T>C, XM_011522083.3:c.161T>C, XM_011522083.2:c.161T>C, XM_011522083.1:c.161T>C, NM_001286499.2:c.2T>C, NM_001286499.1:c.2T>C, NM_001286496.2:c.161T>C, NM_001286496.1:c.161T>C, NM_001286497.2:c.161T>C, NM_001286497.1:c.161T>C, XM_047433140.1:c.161T>C, NP_079325.2:p.Met54Thr, XP_011520386.1:p.Met54Thr, XP_011520385.1:p.Met54Thr, NP_001273428.1:p.Met1Thr, NP_001273425.1:p.Met54Thr, NP_001273426.1:p.Met54Thr, XP_047289096.1:p.Met54Thr

Select item 147232130610.

rs1472321306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64824044 (GRCh38)
15:65116243 (GRCh37)
Canonical SPDI:: NC_000015.10:64824043:C:T
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64824044C>T, NC_000015.9:g.65116243C>T, NM_025049.4:c.292G>A, NM_025049.3:c.292G>A, NM_025049.2:c.292G>A, XM_011522084.3:c.292G>A, XM_011522084.2:c.292G>A, XM_011522084.1:c.292G>A, XM_011522083.3:c.292G>A, XM_011522083.2:c.292G>A, XM_011522083.1:c.292G>A, NM_001286499.2:c.133G>A, NM_001286499.1:c.133G>A, NM_001286496.2:c.292G>A, NM_001286496.1:c.292G>A, NM_001286497.2:c.292G>A, NM_001286497.1:c.292G>A, XM_047433140.1:c.292G>A, NP_079325.2:p.Ala98Thr, XP_011520386.1:p.Ala98Thr, XP_011520385.1:p.Ala98Thr, NP_001273428.1:p.Ala45Thr, NP_001273425.1:p.Ala98Thr, NP_001273426.1:p.Ala98Thr, XP_047289096.1:p.Ala98Thr

Select item 147195528611.

rs1471955286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:64824125 (GRCh38)
15:65116324 (GRCh37)
Canonical SPDI:: NC_000015.10:64824124:G:C,NC_000015.10:64824124:G:T
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.64824125G>C, NC_000015.10:g.64824125G>T, NC_000015.9:g.65116324G>C, NC_000015.9:g.65116324G>T, NM_025049.4:c.211C>G, NM_025049.4:c.211C>A, NM_025049.3:c.211C>G, NM_025049.3:c.211C>A, NM_025049.2:c.211C>G, NM_025049.2:c.211C>A, XM_011522084.3:c.211C>G, XM_011522084.3:c.211C>A, XM_011522084.2:c.211C>G, XM_011522084.2:c.211C>A, XM_011522084.1:c.211C>G, XM_011522084.1:c.211C>A, XM_011522083.3:c.211C>G, XM_011522083.3:c.211C>A, XM_011522083.2:c.211C>G, XM_011522083.2:c.211C>A, XM_011522083.1:c.211C>G, XM_011522083.1:c.211C>A, NM_001286499.2:c.52C>G, NM_001286499.2:c.52C>A, NM_001286499.1:c.52C>G, NM_001286499.1:c.52C>A, NM_001286496.2:c.211C>G, NM_001286496.2:c.211C>A, NM_001286496.1:c.211C>G, NM_001286496.1:c.211C>A, NM_001286497.2:c.211C>G, NM_001286497.2:c.211C>A, NM_001286497.1:c.211C>G, NM_001286497.1:c.211C>A, XM_047433140.1:c.211C>G, XM_047433140.1:c.211C>A, NP_079325.2:p.Leu71Val, NP_079325.2:p.Leu71Met, XP_011520386.1:p.Leu71Val, XP_011520386.1:p.Leu71Met, XP_011520385.1:p.Leu71Val, XP_011520385.1:p.Leu71Met, NP_001273428.1:p.Leu18Val, NP_001273428.1:p.Leu18Met, NP_001273425.1:p.Leu71Val, NP_001273425.1:p.Leu71Met, NP_001273426.1:p.Leu71Val, NP_001273426.1:p.Leu71Met, XP_047289096.1:p.Leu71Val, XP_047289096.1:p.Leu71Met

Select item 147158415212.

rs1471584152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:64823986 (GRCh38)
15:65116185 (GRCh37)
Canonical SPDI:: NC_000015.10:64823985:A:C
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.64823986A>C, NC_000015.9:g.65116185A>C, NM_025049.4:c.350T>G, NM_025049.3:c.350T>G, NM_025049.2:c.350T>G, XM_011522084.3:c.350T>G, XM_011522084.2:c.350T>G, XM_011522084.1:c.350T>G, XM_011522083.3:c.350T>G, XM_011522083.2:c.350T>G, XM_011522083.1:c.350T>G, NM_001286499.2:c.191T>G, NM_001286499.1:c.191T>G, NM_001286496.2:c.350T>G, NM_001286496.1:c.350T>G, NM_001286497.2:c.350T>G, NM_001286497.1:c.350T>G, XM_047433140.1:c.350T>G, NP_079325.2:p.Leu117Arg, XP_011520386.1:p.Leu117Arg, XP_011520385.1:p.Leu117Arg, NP_001273428.1:p.Leu64Arg, NP_001273425.1:p.Leu117Arg, NP_001273426.1:p.Leu117Arg, XP_047289096.1:p.Leu117Arg

Select item 147107862013.

rs1471078620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:64824041 (GRCh38)
15:65116240 (GRCh37)
Canonical SPDI:: NC_000015.10:64824040:C:A,NC_000015.10:64824040:C:G,NC_000015.10:64824040:C:T
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.64824041C>A, NC_000015.10:g.64824041C>G, NC_000015.10:g.64824041C>T, NC_000015.9:g.65116240C>A, NC_000015.9:g.65116240C>G, NC_000015.9:g.65116240C>T, NM_025049.4:c.295G>T, NM_025049.4:c.295G>C, NM_025049.4:c.295G>A, NM_025049.3:c.295G>T, NM_025049.3:c.295G>C, NM_025049.3:c.295G>A, NM_025049.2:c.295G>T, NM_025049.2:c.295G>C, NM_025049.2:c.295G>A, XM_011522084.3:c.295G>T, XM_011522084.3:c.295G>C, XM_011522084.3:c.295G>A, XM_011522084.2:c.295G>T, XM_011522084.2:c.295G>C, XM_011522084.2:c.295G>A, XM_011522084.1:c.295G>T, XM_011522084.1:c.295G>C, XM_011522084.1:c.295G>A, XM_011522083.3:c.295G>T, XM_011522083.3:c.295G>C, XM_011522083.3:c.295G>A, XM_011522083.2:c.295G>T, XM_011522083.2:c.295G>C, XM_011522083.2:c.295G>A, XM_011522083.1:c.295G>T, XM_011522083.1:c.295G>C, XM_011522083.1:c.295G>A, NM_001286499.2:c.136G>T, NM_001286499.2:c.136G>C, NM_001286499.2:c.136G>A, NM_001286499.1:c.136G>T, NM_001286499.1:c.136G>C, NM_001286499.1:c.136G>A, NM_001286496.2:c.295G>T, NM_001286496.2:c.295G>C, NM_001286496.2:c.295G>A, NM_001286496.1:c.295G>T, NM_001286496.1:c.295G>C, NM_001286496.1:c.295G>A, NM_001286497.2:c.295G>T, NM_001286497.2:c.295G>C, NM_001286497.2:c.295G>A, NM_001286497.1:c.295G>T, NM_001286497.1:c.295G>C, NM_001286497.1:c.295G>A, XM_047433140.1:c.295G>T, XM_047433140.1:c.295G>C, XM_047433140.1:c.295G>A, NP_079325.2:p.Gly99Cys, NP_079325.2:p.Gly99Arg, NP_079325.2:p.Gly99Ser, XP_011520386.1:p.Gly99Cys, XP_011520386.1:p.Gly99Arg, XP_011520386.1:p.Gly99Ser, XP_011520385.1:p.Gly99Cys, XP_011520385.1:p.Gly99Arg, XP_011520385.1:p.Gly99Ser, NP_001273428.1:p.Gly46Cys, NP_001273428.1:p.Gly46Arg, NP_001273428.1:p.Gly46Ser, NP_001273425.1:p.Gly99Cys, NP_001273425.1:p.Gly99Arg, NP_001273425.1:p.Gly99Ser, NP_001273426.1:p.Gly99Cys, NP_001273426.1:p.Gly99Arg, NP_001273426.1:p.Gly99Ser, XP_047289096.1:p.Gly99Cys, XP_047289096.1:p.Gly99Arg, XP_047289096.1:p.Gly99Ser

Select item 147096267814.

rs1470962678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64821192 (GRCh38)
15:65113391 (GRCh37)
Canonical SPDI:: NC_000015.10:64821191:G:A
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.64821192G>A, NC_000015.9:g.65113391G>A, NM_025049.4:c.1061C>T, NM_025049.3:c.1061C>T, NM_025049.2:c.1061C>T, XM_011522084.3:c.1061C>T, XM_011522084.2:c.1061C>T, XM_011522084.1:c.1061C>T, XM_011522083.3:c.1061C>T, XM_011522083.2:c.1061C>T, XM_011522083.1:c.1061C>T, NM_001286499.2:c.902C>T, NM_001286499.1:c.902C>T, NM_001286496.2:c.1061C>T, NM_001286496.1:c.1061C>T, NM_001286497.2:c.1061C>T, NM_001286497.1:c.1061C>T, XM_047433140.1:c.1061C>T, NP_079325.2:p.Ser354Phe, XP_011520386.1:p.Ser354Phe, XP_011520385.1:p.Ser354Phe, NP_001273428.1:p.Ser301Phe, NP_001273425.1:p.Ser354Phe, NP_001273426.1:p.Ser354Phe, XP_047289096.1:p.Ser354Phe

Select item 146909376715.

rs1469093767 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGACAGC>- [Show Flanks]
Chromosome:: 15:64821273 (GRCh38)
15:65113472 (GRCh37)
Canonical SPDI:: NC_000015.10:64821270:GCCGGACAGC:GC
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64821273_64821280del, NC_000015.9:g.65113472_65113479del, NM_025049.4:c.975_982del, NM_025049.3:c.975_982del, NM_025049.2:c.975_982del, XM_011522084.3:c.975_982del, XM_011522084.2:c.975_982del, XM_011522084.1:c.975_982del, XM_011522083.3:c.975_982del, XM_011522083.2:c.975_982del, XM_011522083.1:c.975_982del, NM_001286499.2:c.816_823del, NM_001286499.1:c.816_823del, NM_001286496.2:c.975_982del, NM_001286496.1:c.975_982del, NM_001286497.2:c.975_982del, NM_001286497.1:c.975_982del, XM_047433140.1:c.975_982del, NP_079325.2:p.Val326fs, XP_011520386.1:p.Val326fs, XP_011520385.1:p.Val326fs, NP_001273428.1:p.Val273fs, NP_001273425.1:p.Val326fs, NP_001273426.1:p.Val326fs, XP_047289096.1:p.Val326fs

Select item 146904444916.

rs1469044449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:64822520 (GRCh38)
15:65114719 (GRCh37)
Canonical SPDI:: NC_000015.10:64822519:C:A
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64822520C>A, NC_000015.9:g.65114719C>A, NM_025049.4:c.649G>T, NM_025049.3:c.649G>T, NM_025049.2:c.649G>T, XM_011522084.3:c.649G>T, XM_011522084.2:c.649G>T, XM_011522084.1:c.649G>T, XM_011522083.3:c.649G>T, XM_011522083.2:c.649G>T, XM_011522083.1:c.649G>T, NM_001286499.2:c.490G>T, NM_001286499.1:c.490G>T, NM_001286496.2:c.649G>T, NM_001286496.1:c.649G>T, NM_001286497.2:c.649G>T, NM_001286497.1:c.649G>T, XM_047433140.1:c.649G>T, NP_079325.2:p.Ala217Ser, XP_011520386.1:p.Ala217Ser, XP_011520385.1:p.Ala217Ser, NP_001273428.1:p.Ala164Ser, NP_001273425.1:p.Ala217Ser, NP_001273426.1:p.Ala217Ser, XP_047289096.1:p.Ala217Ser

Select item 146731770517.

rs1467317705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:64819176 (GRCh38)
15:65111375 (GRCh37)
Canonical SPDI:: NC_000015.10:64819175:T:G
Gene:: PIF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.64819176T>G, NC_000015.9:g.65111375T>G, NM_025049.4:c.1381A>C, NM_025049.3:c.1381A>C, NM_025049.2:c.1381A>C, XM_011522084.3:c.1381A>C, XM_011522084.2:c.1381A>C, XM_011522084.1:c.1381A>C, XM_011522083.3:c.1381A>C, XM_011522083.2:c.1381A>C, XM_011522083.1:c.1381A>C, NM_001286499.2:c.1222A>C, NM_001286499.1:c.1222A>C, NM_001286496.2:c.1381A>C, NM_001286496.1:c.1381A>C, NM_001286497.2:c.1381A>C, NM_001286497.1:c.1381A>C, NP_079325.2:p.Ser461Arg, XP_011520386.1:p.Ser461Arg, XP_011520385.1:p.Ser461Arg, NP_001273428.1:p.Ser408Arg, NP_001273425.1:p.Ser461Arg, NP_001273426.1:p.Ser461Arg

Select item 146698384818.

rs1466983848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64818311 (GRCh38)
15:65110510 (GRCh37)
Canonical SPDI:: NC_000015.10:64818310:C:T
Gene:: PIF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64818311C>T, NC_000015.9:g.65110510C>T, NM_025049.4:c.1474G>A, NM_025049.3:c.1474G>A, NM_025049.2:c.1474G>A, XM_011522084.3:c.1474G>A, XM_011522084.2:c.1474G>A, XM_011522084.1:c.1474G>A, XM_011522083.3:c.1474G>A, XM_011522083.2:c.1474G>A, XM_011522083.1:c.1474G>A, NM_001286499.2:c.1315G>A, NM_001286499.1:c.1315G>A, NM_001286496.2:c.1474G>A, NM_001286496.1:c.1474G>A, NM_001286497.2:c.1474G>A, NM_001286497.1:c.1474G>A, NP_079325.2:p.Gly492Ser, XP_011520386.1:p.Gly492Ser, XP_011520385.1:p.Gly492Ser, NP_001273428.1:p.Gly439Ser, NP_001273425.1:p.Gly492Ser, NP_001273426.1:p.Gly492Ser

Select item 146561538419.

rs1465615384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:64816678 (GRCh38)
15:65108877 (GRCh37)
Canonical SPDI:: NC_000015.10:64816677:G:T
Gene:: PIF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000015.10:g.64816678G>T, NC_000015.9:g.65108877G>T, NM_025049.4:c.1762C>A, NM_025049.3:c.1762C>A, NM_025049.2:c.1762C>A, XM_011522084.3:c.1762C>A, XM_011522084.2:c.1762C>A, XM_011522084.1:c.1762C>A, XM_011522083.3:c.1762C>A, XM_011522083.2:c.1762C>A, XM_011522083.1:c.1762C>A, NM_001286499.2:c.1603C>A, NM_001286499.1:c.1603C>A, NM_001286496.2:c.1762C>A, NM_001286496.1:c.1762C>A, NM_001286497.2:c.1762C>A, NM_001286497.1:c.1762C>A, NP_079325.2:p.Leu588Met, XP_011520386.1:p.Leu588Met, XP_011520385.1:p.Leu588Met, NP_001273428.1:p.Leu535Met, NP_001273425.1:p.Leu588Met, NP_001273426.1:p.Leu588Met

Select item 146380898320.

rs1463808983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:64824086 (GRCh38)
15:65116285 (GRCh37)
Canonical SPDI:: NC_000015.10:64824085:C:A,NC_000015.10:64824085:C:G,NC_000015.10:64824085:C:T
Gene:: PIF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.64824086C>A, NC_000015.10:g.64824086C>G, NC_000015.10:g.64824086C>T, NC_000015.9:g.65116285C>A, NC_000015.9:g.65116285C>G, NC_000015.9:g.65116285C>T, NM_025049.4:c.250G>T, NM_025049.4:c.250G>C, NM_025049.4:c.250G>A, NM_025049.3:c.250G>T, NM_025049.3:c.250G>C, NM_025049.3:c.250G>A, NM_025049.2:c.250G>T, NM_025049.2:c.250G>C, NM_025049.2:c.250G>A, XM_011522084.3:c.250G>T, XM_011522084.3:c.250G>C, XM_011522084.3:c.250G>A, XM_011522084.2:c.250G>T, XM_011522084.2:c.250G>C, XM_011522084.2:c.250G>A, XM_011522084.1:c.250G>T, XM_011522084.1:c.250G>C, XM_011522084.1:c.250G>A, XM_011522083.3:c.250G>T, XM_011522083.3:c.250G>C, XM_011522083.3:c.250G>A, XM_011522083.2:c.250G>T, XM_011522083.2:c.250G>C, XM_011522083.2:c.250G>A, XM_011522083.1:c.250G>T, XM_011522083.1:c.250G>C, XM_011522083.1:c.250G>A, NM_001286499.2:c.91G>T, NM_001286499.2:c.91G>C, NM_001286499.2:c.91G>A, NM_001286499.1:c.91G>T, NM_001286499.1:c.91G>C, NM_001286499.1:c.91G>A, NM_001286496.2:c.250G>T, NM_001286496.2:c.250G>C, NM_001286496.2:c.250G>A, NM_001286496.1:c.250G>T, NM_001286496.1:c.250G>C, NM_001286496.1:c.250G>A, NM_001286497.2:c.250G>T, NM_001286497.2:c.250G>C, NM_001286497.2:c.250G>A, NM_001286497.1:c.250G>T, NM_001286497.1:c.250G>C, NM_001286497.1:c.250G>A, XM_047433140.1:c.250G>T, XM_047433140.1:c.250G>C, XM_047433140.1:c.250G>A, NP_079325.2:p.Gly84Trp, NP_079325.2:p.Gly84Arg, NP_079325.2:p.Gly84Arg, XP_011520386.1:p.Gly84Trp, XP_011520386.1:p.Gly84Arg, XP_011520386.1:p.Gly84Arg, XP_011520385.1:p.Gly84Trp, XP_011520385.1:p.Gly84Arg, XP_011520385.1:p.Gly84Arg, NP_001273428.1:p.Gly31Trp, NP_001273428.1:p.Gly31Arg, NP_001273428.1:p.Gly31Arg, NP_001273425.1:p.Gly84Trp, NP_001273425.1:p.Gly84Arg, NP_001273425.1:p.Gly84Arg, NP_001273426.1:p.Gly84Trp, NP_001273426.1:p.Gly84Arg, NP_001273426.1:p.Gly84Arg, XP_047289096.1:p.Gly84Trp, XP_047289096.1:p.Gly84Arg, XP_047289096.1:p.Gly84Arg

dbSNP

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 731

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