SNP Links for Protein (Select 1034656086) - SNP

Links from Protein

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Select item 14907945891.

rs1490794589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:105506053 (GRCh38)
7:105146500 (GRCh37)
Canonical SPDI:: NC_000007.14:105506052:G:T
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.105506053G>T, NC_000007.13:g.105146500G>T, XM_005250462.5:c.487C>A, XM_005250462.4:c.487C>A, XM_005250462.3:c.487C>A, XM_005250462.2:c.487C>A, XM_005250462.1:c.487C>A, NM_019042.5:c.487C>A, NM_019042.4:c.487C>A, NM_019042.3:c.487C>A, XM_011516336.4:c.487C>A, XM_011516336.3:c.487C>A, XM_011516336.2:c.487C>A, XM_011516336.1:c.487C>A, XM_017012367.3:c.487C>A, XM_017012367.2:c.487C>A, XM_017012367.1:c.487C>A, NM_001318164.2:c.487C>A, NM_001318164.1:c.487C>A, XM_047420532.1:c.487C>A, XM_047420533.1:c.487C>A, NM_001318163.1:c.487C>A, XM_047420534.1:c.487C>A, XP_005250519.1:p.Pro163Thr, NP_061915.2:p.Pro163Thr, XP_011514638.1:p.Pro163Thr, XP_016867856.1:p.Pro163Thr, NP_001305093.1:p.Pro163Thr, XP_047276488.1:p.Pro163Thr, XP_047276489.1:p.Pro163Thr, NP_001305092.1:p.Pro163Thr, XP_047276490.1:p.Pro163Thr

Select item 14903510952.

rs1490351095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:105508303 (GRCh38)
7:105148750 (GRCh37)
Canonical SPDI:: NC_000007.14:105508302:A:C,NC_000007.14:105508302:A:G
Gene:: PUS7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.105508303A>C, NC_000007.14:g.105508303A>G, NC_000007.13:g.105148750A>C, NC_000007.13:g.105148750A>G, XM_005250462.5:c.210T>G, XM_005250462.5:c.210T>C, XM_005250462.4:c.210T>G, XM_005250462.4:c.210T>C, XM_005250462.3:c.210T>G, XM_005250462.3:c.210T>C, XM_005250462.2:c.210T>G, XM_005250462.2:c.210T>C, XM_005250462.1:c.210T>G, XM_005250462.1:c.210T>C, NM_019042.5:c.210T>G, NM_019042.5:c.210T>C, NM_019042.4:c.210T>G, NM_019042.4:c.210T>C, NM_019042.3:c.210T>G, NM_019042.3:c.210T>C, XM_011516336.4:c.210T>G, XM_011516336.4:c.210T>C, XM_011516336.3:c.210T>G, XM_011516336.3:c.210T>C, XM_011516336.2:c.210T>G, XM_011516336.2:c.210T>C, XM_011516336.1:c.210T>G, XM_011516336.1:c.210T>C, XM_017012367.3:c.210T>G, XM_017012367.3:c.210T>C, XM_017012367.2:c.210T>G, XM_017012367.2:c.210T>C, XM_017012367.1:c.210T>G, XM_017012367.1:c.210T>C, NM_001318164.2:c.210T>G, NM_001318164.2:c.210T>C, NM_001318164.1:c.210T>G, NM_001318164.1:c.210T>C, XM_047420532.1:c.210T>G, XM_047420532.1:c.210T>C, XM_047420533.1:c.210T>G, XM_047420533.1:c.210T>C, NM_001318163.1:c.210T>G, NM_001318163.1:c.210T>C, XM_047420534.1:c.210T>G, XM_047420534.1:c.210T>C

Select item 14863800213.

rs1486380021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:105465413 (GRCh38)
7:105105860 (GRCh37)
Canonical SPDI:: NC_000007.14:105465412:G:A
Gene:: PUS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.105465413G>A, NC_000007.13:g.105105860G>A, XM_005250462.5:c.1545C>T, XM_005250462.4:c.1545C>T, XM_005250462.3:c.1545C>T, XM_005250462.2:c.1545C>T, XM_005250462.1:c.1545C>T, NM_019042.5:c.1527C>T, NM_019042.4:c.1527C>T, NM_019042.3:c.1527C>T, XM_017012367.3:c.1545C>T, XM_017012367.2:c.1545C>T, XM_017012367.1:c.1545C>T, NM_001318164.2:c.1527C>T, NM_001318164.1:c.1527C>T, NM_001318163.1:c.1545C>T

Select item 14863297584.

rs1486329758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:105457917 (GRCh38)
7:105098364 (GRCh37)
Canonical SPDI:: NC_000007.14:105457916:T:A,NC_000007.14:105457916:T:C
Gene:: PUS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.105457917T>A, NC_000007.14:g.105457917T>C, NC_000007.13:g.105098364T>A, NC_000007.13:g.105098364T>C, XM_005250462.5:c.1877A>T, XM_005250462.5:c.1877A>G, XM_005250462.4:c.1877A>T, XM_005250462.4:c.1877A>G, XM_005250462.3:c.1877A>T, XM_005250462.3:c.1877A>G, XM_005250462.2:c.1877A>T, XM_005250462.2:c.1877A>G, XM_005250462.1:c.1877A>T, XM_005250462.1:c.1877A>G, NM_019042.5:c.1859A>T, NM_019042.5:c.1859A>G, NM_019042.4:c.1859A>T, NM_019042.4:c.1859A>G, NM_019042.3:c.1859A>T, NM_019042.3:c.1859A>G, XM_011516336.4:c.1775A>T, XM_011516336.4:c.1775A>G, XM_011516336.3:c.1775A>T, XM_011516336.3:c.1775A>G, XM_011516336.2:c.1775A>T, XM_011516336.2:c.1775A>G, XM_011516336.1:c.1775A>T, XM_011516336.1:c.1775A>G, XM_017012367.3:c.1877A>T, XM_017012367.3:c.1877A>G, XM_017012367.2:c.1877A>T, XM_017012367.2:c.1877A>G, XM_017012367.1:c.1877A>T, XM_017012367.1:c.1877A>G, NM_001318164.2:c.1859A>T, NM_001318164.2:c.1859A>G, NM_001318164.1:c.1859A>T, NM_001318164.1:c.1859A>G, XM_047420532.1:c.1757A>T, XM_047420532.1:c.1757A>G, XM_047420533.1:c.1757A>T, XM_047420533.1:c.1757A>G, NM_001318163.1:c.1877A>T, NM_001318163.1:c.1877A>G, XP_005250519.1:p.Tyr626Phe, XP_005250519.1:p.Tyr626Cys, NP_061915.2:p.Tyr620Phe, NP_061915.2:p.Tyr620Cys, XP_011514638.1:p.Tyr592Phe, XP_011514638.1:p.Tyr592Cys, XP_016867856.1:p.Tyr626Phe, XP_016867856.1:p.Tyr626Cys, NP_001305093.1:p.Tyr620Phe, NP_001305093.1:p.Tyr620Cys, XP_047276488.1:p.Tyr586Phe, XP_047276488.1:p.Tyr586Cys, XP_047276489.1:p.Tyr586Phe, XP_047276489.1:p.Tyr586Cys, NP_001305092.1:p.Tyr626Phe, NP_001305092.1:p.Tyr626Cys

Select item 14812949645.

rs1481294964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:105505988 (GRCh38)
7:105146435 (GRCh37)
Canonical SPDI:: NC_000007.14:105505987:C:T
Gene:: PUS7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.105505988C>T, NC_000007.13:g.105146435C>T, XM_005250462.5:c.552G>A, XM_005250462.4:c.552G>A, XM_005250462.3:c.552G>A, XM_005250462.2:c.552G>A, XM_005250462.1:c.552G>A, NM_019042.5:c.552G>A, NM_019042.4:c.552G>A, NM_019042.3:c.552G>A, XM_011516336.4:c.552G>A, XM_011516336.3:c.552G>A, XM_011516336.2:c.552G>A, XM_011516336.1:c.552G>A, XM_017012367.3:c.552G>A, XM_017012367.2:c.552G>A, XM_017012367.1:c.552G>A, NM_001318164.2:c.552G>A, NM_001318164.1:c.552G>A, XM_047420532.1:c.552G>A, XM_047420533.1:c.552G>A, NM_001318163.1:c.552G>A, XM_047420534.1:c.552G>A

Select item 14793261926.

rs1479326192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:105491541 (GRCh38)
7:105131988 (GRCh37)
Canonical SPDI:: NC_000007.14:105491540:T:C
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.105491541T>C, NC_000007.13:g.105131988T>C, XM_005250462.5:c.937A>G, XM_005250462.4:c.937A>G, XM_005250462.3:c.937A>G, XM_005250462.2:c.937A>G, XM_005250462.1:c.937A>G, NM_019042.5:c.919A>G, NM_019042.4:c.919A>G, NM_019042.3:c.919A>G, XM_011516336.4:c.937A>G, XM_011516336.3:c.937A>G, XM_011516336.2:c.937A>G, XM_011516336.1:c.937A>G, XM_017012367.3:c.937A>G, XM_017012367.2:c.937A>G, XM_017012367.1:c.937A>G, NM_001318164.2:c.919A>G, NM_001318164.1:c.919A>G, XM_047420532.1:c.919A>G, XM_047420533.1:c.919A>G, NM_001318163.1:c.937A>G, XM_047420534.1:c.937A>G, XP_005250519.1:p.Lys313Glu, NP_061915.2:p.Lys307Glu, XP_011514638.1:p.Lys313Glu, XP_016867856.1:p.Lys313Glu, NP_001305093.1:p.Lys307Glu, XP_047276488.1:p.Lys307Glu, XP_047276489.1:p.Lys307Glu, NP_001305092.1:p.Lys313Glu, XP_047276490.1:p.Lys313Glu

Select item 14759704447.

rs1475970444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:105457840 (GRCh38)
7:105098287 (GRCh37)
Canonical SPDI:: NC_000007.14:105457839:C:A
Gene:: PUS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.105457840C>A, NC_000007.13:g.105098287C>A, XM_005250462.5:c.1954G>T, XM_005250462.4:c.1954G>T, XM_005250462.3:c.1954G>T, XM_005250462.2:c.1954G>T, XM_005250462.1:c.1954G>T, NM_019042.5:c.1936G>T, NM_019042.4:c.1936G>T, NM_019042.3:c.1936G>T, XM_011516336.4:c.1852G>T, XM_011516336.3:c.1852G>T, XM_011516336.2:c.1852G>T, XM_011516336.1:c.1852G>T, XM_017012367.3:c.1954G>T, XM_017012367.2:c.1954G>T, XM_017012367.1:c.1954G>T, NM_001318164.2:c.1936G>T, NM_001318164.1:c.1936G>T, XM_047420532.1:c.1834G>T, XM_047420533.1:c.1834G>T, NM_001318163.1:c.1954G>T, XP_005250519.1:p.Asp652Tyr, NP_061915.2:p.Asp646Tyr, XP_011514638.1:p.Asp618Tyr, XP_016867856.1:p.Asp652Tyr, NP_001305093.1:p.Asp646Tyr, XP_047276488.1:p.Asp612Tyr, XP_047276489.1:p.Asp612Tyr, NP_001305092.1:p.Asp652Tyr

Select item 14752891578.

rs1475289157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:105462738 (GRCh38)
7:105103185 (GRCh37)
Canonical SPDI:: NC_000007.14:105462737:T:C
Gene:: PUS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.105462738T>C, NC_000007.13:g.105103185T>C, XM_005250462.5:c.1658A>G, XM_005250462.4:c.1658A>G, XM_005250462.3:c.1658A>G, XM_005250462.2:c.1658A>G, XM_005250462.1:c.1658A>G, NM_019042.5:c.1640A>G, NM_019042.4:c.1640A>G, NM_019042.3:c.1640A>G, XM_011516336.4:c.1556A>G, XM_011516336.3:c.1556A>G, XM_011516336.2:c.1556A>G, XM_011516336.1:c.1556A>G, XM_017012367.3:c.1658A>G, XM_017012367.2:c.1658A>G, XM_017012367.1:c.1658A>G, NM_001318164.2:c.1640A>G, NM_001318164.1:c.1640A>G, XM_047420532.1:c.1538A>G, XM_047420533.1:c.1538A>G, NM_001318163.1:c.1658A>G, XP_005250519.1:p.Tyr553Cys, NP_061915.2:p.Tyr547Cys, XP_011514638.1:p.Tyr519Cys, XP_016867856.1:p.Tyr553Cys, NP_001305093.1:p.Tyr547Cys, XP_047276488.1:p.Tyr513Cys, XP_047276489.1:p.Tyr513Cys, NP_001305092.1:p.Tyr553Cys

Select item 14737081909.

rs1473708190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:105470774 (GRCh38)
7:105111221 (GRCh37)
Canonical SPDI:: NC_000007.14:105470773:G:A
Gene:: PUS7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.105470774G>A, NC_000007.13:g.105111221G>A, XM_005250462.5:c.1330C>T, XM_005250462.4:c.1330C>T, XM_005250462.3:c.1330C>T, XM_005250462.2:c.1330C>T, XM_005250462.1:c.1330C>T, NM_019042.5:c.1312C>T, NM_019042.4:c.1312C>T, NM_019042.3:c.1312C>T, XM_011516336.4:c.1330C>T, XM_011516336.3:c.1330C>T, XM_011516336.2:c.1330C>T, XM_011516336.1:c.1330C>T, XM_017012367.3:c.1330C>T, XM_017012367.2:c.1330C>T, XM_017012367.1:c.1330C>T, NM_001318164.2:c.1312C>T, NM_001318164.1:c.1312C>T, XM_047420532.1:c.1312C>T, XM_047420533.1:c.1312C>T, NM_001318163.1:c.1330C>T, XM_047420534.1:c.1330C>T

Select item 147311802110.

rs1473118021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:105481172 (GRCh38)
7:105121619 (GRCh37)
Canonical SPDI:: NC_000007.14:105481171:A:G
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.105481172A>G, NC_000007.13:g.105121619A>G, XM_005250462.5:c.1073T>C, XM_005250462.4:c.1073T>C, XM_005250462.3:c.1073T>C, XM_005250462.2:c.1073T>C, XM_005250462.1:c.1073T>C, NM_019042.5:c.1055T>C, NM_019042.4:c.1055T>C, NM_019042.3:c.1055T>C, XM_011516336.4:c.1073T>C, XM_011516336.3:c.1073T>C, XM_011516336.2:c.1073T>C, XM_011516336.1:c.1073T>C, XM_017012367.3:c.1073T>C, XM_017012367.2:c.1073T>C, XM_017012367.1:c.1073T>C, NM_001318164.2:c.1055T>C, NM_001318164.1:c.1055T>C, XM_047420532.1:c.1055T>C, XM_047420533.1:c.1055T>C, NM_001318163.1:c.1073T>C, XM_047420534.1:c.1073T>C, XP_005250519.1:p.Ile358Thr, NP_061915.2:p.Ile352Thr, XP_011514638.1:p.Ile358Thr, XP_016867856.1:p.Ile358Thr, NP_001305093.1:p.Ile352Thr, XP_047276488.1:p.Ile352Thr, XP_047276489.1:p.Ile352Thr, NP_001305092.1:p.Ile358Thr, XP_047276490.1:p.Ile358Thr

Select item 147213558611.

rs1472135586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:105470795 (GRCh38)
7:105111242 (GRCh37)
Canonical SPDI:: NC_000007.14:105470794:G:C
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.105470795G>C, NC_000007.13:g.105111242G>C, XM_005250462.5:c.1309C>G, XM_005250462.4:c.1309C>G, XM_005250462.3:c.1309C>G, XM_005250462.2:c.1309C>G, XM_005250462.1:c.1309C>G, NM_019042.5:c.1291C>G, NM_019042.4:c.1291C>G, NM_019042.3:c.1291C>G, XM_011516336.4:c.1309C>G, XM_011516336.3:c.1309C>G, XM_011516336.2:c.1309C>G, XM_011516336.1:c.1309C>G, XM_017012367.3:c.1309C>G, XM_017012367.2:c.1309C>G, XM_017012367.1:c.1309C>G, NM_001318164.2:c.1291C>G, NM_001318164.1:c.1291C>G, XM_047420532.1:c.1291C>G, XM_047420533.1:c.1291C>G, NM_001318163.1:c.1309C>G, XM_047420534.1:c.1309C>G, XP_005250519.1:p.Pro437Ala, NP_061915.2:p.Pro431Ala, XP_011514638.1:p.Pro437Ala, XP_016867856.1:p.Pro437Ala, NP_001305093.1:p.Pro431Ala, XP_047276488.1:p.Pro431Ala, XP_047276489.1:p.Pro431Ala, NP_001305092.1:p.Pro437Ala, XP_047276490.1:p.Pro437Ala

Select item 147077170512.

rs1470771705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:105508343 (GRCh38)
7:105148790 (GRCh37)
Canonical SPDI:: NC_000007.14:105508342:T:A
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.105508343T>A, NC_000007.13:g.105148790T>A, XM_005250462.5:c.170A>T, XM_005250462.4:c.170A>T, XM_005250462.3:c.170A>T, XM_005250462.2:c.170A>T, XM_005250462.1:c.170A>T, NM_019042.5:c.170A>T, NM_019042.4:c.170A>T, NM_019042.3:c.170A>T, XM_011516336.4:c.170A>T, XM_011516336.3:c.170A>T, XM_011516336.2:c.170A>T, XM_011516336.1:c.170A>T, XM_017012367.3:c.170A>T, XM_017012367.2:c.170A>T, XM_017012367.1:c.170A>T, NM_001318164.2:c.170A>T, NM_001318164.1:c.170A>T, XM_047420532.1:c.170A>T, XM_047420533.1:c.170A>T, NM_001318163.1:c.170A>T, XM_047420534.1:c.170A>T, XP_005250519.1:p.Asp57Val, NP_061915.2:p.Asp57Val, XP_011514638.1:p.Asp57Val, XP_016867856.1:p.Asp57Val, NP_001305093.1:p.Asp57Val, XP_047276488.1:p.Asp57Val, XP_047276489.1:p.Asp57Val, NP_001305092.1:p.Asp57Val, XP_047276490.1:p.Asp57Val

Select item 147016960413.

rs1470169604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:105508487 (GRCh38)
7:105148934 (GRCh37)
Canonical SPDI:: NC_000007.14:105508486:A:C,NC_000007.14:105508486:A:G
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.105508487A>C, NC_000007.14:g.105508487A>G, NC_000007.13:g.105148934A>C, NC_000007.13:g.105148934A>G, XM_005250462.5:c.26T>G, XM_005250462.5:c.26T>C, XM_005250462.4:c.26T>G, XM_005250462.4:c.26T>C, XM_005250462.3:c.26T>G, XM_005250462.3:c.26T>C, XM_005250462.2:c.26T>G, XM_005250462.2:c.26T>C, XM_005250462.1:c.26T>G, XM_005250462.1:c.26T>C, NM_019042.5:c.26T>G, NM_019042.5:c.26T>C, NM_019042.4:c.26T>G, NM_019042.4:c.26T>C, NM_019042.3:c.26T>G, NM_019042.3:c.26T>C, XM_011516336.4:c.26T>G, XM_011516336.4:c.26T>C, XM_011516336.3:c.26T>G, XM_011516336.3:c.26T>C, XM_011516336.2:c.26T>G, XM_011516336.2:c.26T>C, XM_011516336.1:c.26T>G, XM_011516336.1:c.26T>C, XM_017012367.3:c.26T>G, XM_017012367.3:c.26T>C, XM_017012367.2:c.26T>G, XM_017012367.2:c.26T>C, XM_017012367.1:c.26T>G, XM_017012367.1:c.26T>C, NM_001318164.2:c.26T>G, NM_001318164.2:c.26T>C, NM_001318164.1:c.26T>G, NM_001318164.1:c.26T>C, XM_047420532.1:c.26T>G, XM_047420532.1:c.26T>C, XM_047420533.1:c.26T>G, XM_047420533.1:c.26T>C, NM_001318163.1:c.26T>G, NM_001318163.1:c.26T>C, XM_047420534.1:c.26T>G, XM_047420534.1:c.26T>C, XP_005250519.1:p.Val9Gly, XP_005250519.1:p.Val9Ala, NP_061915.2:p.Val9Gly, NP_061915.2:p.Val9Ala, XP_011514638.1:p.Val9Gly, XP_011514638.1:p.Val9Ala, XP_016867856.1:p.Val9Gly, XP_016867856.1:p.Val9Ala, NP_001305093.1:p.Val9Gly, NP_001305093.1:p.Val9Ala, XP_047276488.1:p.Val9Gly, XP_047276488.1:p.Val9Ala, XP_047276489.1:p.Val9Gly, XP_047276489.1:p.Val9Ala, NP_001305092.1:p.Val9Gly, NP_001305092.1:p.Val9Ala, XP_047276490.1:p.Val9Gly, XP_047276490.1:p.Val9Ala

Select item 146965321914.

rs1469653219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:105481053 (GRCh38)
7:105121500 (GRCh37)
Canonical SPDI:: NC_000007.14:105481052:T:A,NC_000007.14:105481052:T:G
Gene:: PUS7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.105481053T>A, NC_000007.14:g.105481053T>G, NC_000007.13:g.105121500T>A, NC_000007.13:g.105121500T>G, XM_005250462.5:c.1192A>T, XM_005250462.5:c.1192A>C, XM_005250462.4:c.1192A>T, XM_005250462.4:c.1192A>C, XM_005250462.3:c.1192A>T, XM_005250462.3:c.1192A>C, XM_005250462.2:c.1192A>T, XM_005250462.2:c.1192A>C, XM_005250462.1:c.1192A>T, XM_005250462.1:c.1192A>C, NM_019042.5:c.1174A>T, NM_019042.5:c.1174A>C, NM_019042.4:c.1174A>T, NM_019042.4:c.1174A>C, NM_019042.3:c.1174A>T, NM_019042.3:c.1174A>C, XM_011516336.4:c.1192A>T, XM_011516336.4:c.1192A>C, XM_011516336.3:c.1192A>T, XM_011516336.3:c.1192A>C, XM_011516336.2:c.1192A>T, XM_011516336.2:c.1192A>C, XM_011516336.1:c.1192A>T, XM_011516336.1:c.1192A>C, XM_017012367.3:c.1192A>T, XM_017012367.3:c.1192A>C, XM_017012367.2:c.1192A>T, XM_017012367.2:c.1192A>C, XM_017012367.1:c.1192A>T, XM_017012367.1:c.1192A>C, NM_001318164.2:c.1174A>T, NM_001318164.2:c.1174A>C, NM_001318164.1:c.1174A>T, NM_001318164.1:c.1174A>C, XM_047420532.1:c.1174A>T, XM_047420532.1:c.1174A>C, XM_047420533.1:c.1174A>T, XM_047420533.1:c.1174A>C, NM_001318163.1:c.1192A>T, NM_001318163.1:c.1192A>C, XM_047420534.1:c.1192A>T, XM_047420534.1:c.1192A>C, XP_005250519.1:p.Arg398Ter, NP_061915.2:p.Arg392Ter, XP_011514638.1:p.Arg398Ter, XP_016867856.1:p.Arg398Ter, NP_001305093.1:p.Arg392Ter, XP_047276488.1:p.Arg392Ter, XP_047276489.1:p.Arg392Ter, NP_001305092.1:p.Arg398Ter, XP_047276490.1:p.Arg398Ter

Select item 146623866715.

rs1466238667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:105506206 (GRCh38)
7:105146653 (GRCh37)
Canonical SPDI:: NC_000007.14:105506205:T:C
Gene:: PUS7 (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_000007.14:g.105506206T>C, NC_000007.13:g.105146653T>C, XM_005250462.5:c.466A>G, XM_005250462.4:c.466A>G, XM_005250462.3:c.466A>G, XM_005250462.2:c.466A>G, XM_005250462.1:c.466A>G, NM_019042.5:c.466A>G, NM_019042.4:c.466A>G, NM_019042.3:c.466A>G, XM_011516336.4:c.466A>G, XM_011516336.3:c.466A>G, XM_011516336.2:c.466A>G, XM_011516336.1:c.466A>G, XM_017012367.3:c.466A>G, XM_017012367.2:c.466A>G, XM_017012367.1:c.466A>G, NM_001318164.2:c.466A>G, NM_001318164.1:c.466A>G, XM_047420532.1:c.466A>G, XM_047420533.1:c.466A>G, NM_001318163.1:c.466A>G, XM_047420534.1:c.466A>G, XP_005250519.1:p.Ile156Val, NP_061915.2:p.Ile156Val, XP_011514638.1:p.Ile156Val, XP_016867856.1:p.Ile156Val, NP_001305093.1:p.Ile156Val, XP_047276488.1:p.Ile156Val, XP_047276489.1:p.Ile156Val, NP_001305092.1:p.Ile156Val, XP_047276490.1:p.Ile156Val

Select item 146443982716.

rs1464439827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:105505999 (GRCh38)
7:105146446 (GRCh37)
Canonical SPDI:: NC_000007.14:105505998:C:G
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.105505999C>G, NC_000007.13:g.105146446C>G, XM_005250462.5:c.541G>C, XM_005250462.4:c.541G>C, XM_005250462.3:c.541G>C, XM_005250462.2:c.541G>C, XM_005250462.1:c.541G>C, NM_019042.5:c.541G>C, NM_019042.4:c.541G>C, NM_019042.3:c.541G>C, XM_011516336.4:c.541G>C, XM_011516336.3:c.541G>C, XM_011516336.2:c.541G>C, XM_011516336.1:c.541G>C, XM_017012367.3:c.541G>C, XM_017012367.2:c.541G>C, XM_017012367.1:c.541G>C, NM_001318164.2:c.541G>C, NM_001318164.1:c.541G>C, XM_047420532.1:c.541G>C, XM_047420533.1:c.541G>C, NM_001318163.1:c.541G>C, XM_047420534.1:c.541G>C, XP_005250519.1:p.Glu181Gln, NP_061915.2:p.Glu181Gln, XP_011514638.1:p.Glu181Gln, XP_016867856.1:p.Glu181Gln, NP_001305093.1:p.Glu181Gln, XP_047276488.1:p.Glu181Gln, XP_047276489.1:p.Glu181Gln, NP_001305092.1:p.Glu181Gln, XP_047276490.1:p.Glu181Gln

Select item 146359817617.

rs1463598176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:105462663 (GRCh38)
7:105103110 (GRCh37)
Canonical SPDI:: NC_000007.14:105462662:C:T
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.105462663C>T, NC_000007.13:g.105103110C>T, XM_005250462.5:c.1733G>A, XM_005250462.4:c.1733G>A, XM_005250462.3:c.1733G>A, XM_005250462.2:c.1733G>A, XM_005250462.1:c.1733G>A, NM_019042.5:c.1715G>A, NM_019042.4:c.1715G>A, NM_019042.3:c.1715G>A, XM_011516336.4:c.1631G>A, XM_011516336.3:c.1631G>A, XM_011516336.2:c.1631G>A, XM_011516336.1:c.1631G>A, XM_017012367.3:c.1733G>A, XM_017012367.2:c.1733G>A, XM_017012367.1:c.1733G>A, NM_001318164.2:c.1715G>A, NM_001318164.1:c.1715G>A, XM_047420532.1:c.1613G>A, XM_047420533.1:c.1613G>A, NM_001318163.1:c.1733G>A, XP_005250519.1:p.Gly578Glu, NP_061915.2:p.Gly572Glu, XP_011514638.1:p.Gly544Glu, XP_016867856.1:p.Gly578Glu, NP_001305093.1:p.Gly572Glu, XP_047276488.1:p.Gly538Glu, XP_047276489.1:p.Gly538Glu, NP_001305092.1:p.Gly578Glu

Select item 146350888018.

rs1463508880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:105465372 (GRCh38)
7:105105819 (GRCh37)
Canonical SPDI:: NC_000007.14:105465371:G:C
Gene:: PUS7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.105465372G>C, NC_000007.13:g.105105819G>C, XM_005250462.5:c.1586C>G, XM_005250462.4:c.1586C>G, XM_005250462.3:c.1586C>G, XM_005250462.2:c.1586C>G, XM_005250462.1:c.1586C>G, NM_019042.5:c.1568C>G, NM_019042.4:c.1568C>G, NM_019042.3:c.1568C>G, XM_017012367.3:c.1586C>G, XM_017012367.2:c.1586C>G, XM_017012367.1:c.1586C>G, NM_001318164.2:c.1568C>G, NM_001318164.1:c.1568C>G, NM_001318163.1:c.1586C>G, XP_005250519.1:p.Ser529Cys, NP_061915.2:p.Ser523Cys, XP_016867856.1:p.Ser529Cys, NP_001305093.1:p.Ser523Cys, NP_001305092.1:p.Ser529Cys

Select item 146307801019.

rs1463078010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:105502559 (GRCh38)
7:105143006 (GRCh37)
Canonical SPDI:: NC_000007.14:105502558:G:A
Gene:: PUS7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.105502559G>A, NC_000007.13:g.105143006G>A, XM_005250462.5:c.591C>T, XM_005250462.4:c.591C>T, XM_005250462.3:c.591C>T, XM_005250462.2:c.591C>T, XM_005250462.1:c.591C>T, NM_019042.5:c.591C>T, NM_019042.4:c.591C>T, NM_019042.3:c.591C>T, XM_011516336.4:c.591C>T, XM_011516336.3:c.591C>T, XM_011516336.2:c.591C>T, XM_011516336.1:c.591C>T, XM_017012367.3:c.591C>T, XM_017012367.2:c.591C>T, XM_017012367.1:c.591C>T, NM_001318164.2:c.591C>T, NM_001318164.1:c.591C>T, XM_047420532.1:c.591C>T, XM_047420533.1:c.591C>T, NM_001318163.1:c.591C>T, XM_047420534.1:c.591C>T

Select item 146173969420.

rs1461739694 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:105495220 (GRCh38)
7:105135667 (GRCh37)
Canonical SPDI:: NC_000007.14:105495219:CCCC:CCC
Gene:: PUS7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.105495223del, NC_000007.13:g.105135670del, XM_005250462.5:c.782del, XM_005250462.4:c.782del, XM_005250462.3:c.782del, XM_005250462.2:c.782del, XM_005250462.1:c.782del, NM_019042.5:c.764del, NM_019042.4:c.764del, NM_019042.3:c.764del, XM_011516336.4:c.782del, XM_011516336.3:c.782del, XM_011516336.2:c.782del, XM_011516336.1:c.782del, XM_017012367.3:c.782del, XM_017012367.2:c.782del, XM_017012367.1:c.782del, NM_001318164.2:c.764del, NM_001318164.1:c.764del, XM_047420532.1:c.764del, XM_047420533.1:c.764del, NM_001318163.1:c.782del, XM_047420534.1:c.782del, XP_005250519.1:p.Gly261fs, NP_061915.2:p.Gly255fs, XP_011514638.1:p.Gly261fs, XP_016867856.1:p.Gly261fs, NP_001305093.1:p.Gly255fs, XP_047276488.1:p.Gly255fs, XP_047276489.1:p.Gly255fs, NP_001305092.1:p.Gly261fs, XP_047276490.1:p.Gly261fs

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