SNP Links for Protein (Select 255653002) - SNP

Links from Protein

Items: 1 to 20 of 817

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Select item 14903648911.

rs1490364891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:50921008 (GRCh38)
14:51387726 (GRCh37)
Canonical SPDI:: NC_000014.9:50921007:G:A,NC_000014.9:50921007:G:T
Gene:: PYGL (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.50921008G>A, NC_000014.9:g.50921008G>T, NC_000014.8:g.51387726G>A, NC_000014.8:g.51387726G>T, NG_012796.1:g.28523C>T, NG_012796.1:g.28523C>A, NM_002863.5:c.720C>T, NM_002863.5:c.720C>A, NM_002863.4:c.720C>T, NM_002863.4:c.720C>A, NM_001163940.2:c.618C>T, NM_001163940.2:c.618C>A, NM_001163940.1:c.618C>T, NM_001163940.1:c.618C>A, NP_002854.3:p.Asn240Lys, NP_001157412.1:p.Asn206Lys

Select item 14898483692.

rs1489848369 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:50920616 (GRCh38)
14:51387334 (GRCh37)
Canonical SPDI:: NC_000014.9:50920615:AA:A
Gene:: PYGL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50920617del, NC_000014.8:g.51387335del, NG_012796.1:g.28915del, NM_002863.5:c.780del, NM_002863.4:c.780del, NM_001163940.2:c.678del, NM_001163940.1:c.678del, NP_002854.3:p.Gly261fs, NP_001157412.1:p.Gly227fs

Select item 14887018543.

rs1488701854 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:50917099 (GRCh38)
14:51383818 (GRCh37)
Canonical SPDI:: NC_000014.9:50917099:AAAAAA:AAAAAAA
Gene:: PYGL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.000043/1 (ALFA)
A=0.000024/6 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000014.9:g.50917105dup, NC_000014.8:g.51383823dup, NG_012796.1:g.32431dup, NM_002863.5:c.861dup, NM_002863.4:c.861dup, NM_001163940.2:c.759dup, NM_001163940.1:c.759dup, NP_002854.3:p.Glu288Ter, NP_001157412.1:p.Glu254Ter

Select item 14858765564.

rs1485876556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50917079 (GRCh38)
14:51383797 (GRCh37)
Canonical SPDI:: NC_000014.9:50917078:C:T
Gene:: PYGL (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_000014.9:g.50917079C>T, NC_000014.8:g.51383797C>T, NG_012796.1:g.32452G>A, NM_002863.5:c.882G>A, NM_002863.4:c.882G>A, NM_001163940.2:c.780G>A, NM_001163940.1:c.780G>A

Select item 14847278775.

rs1484727877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:50944294 (GRCh38)
14:51411012 (GRCh37)
Canonical SPDI:: NC_000014.9:50944293:T:A
Gene:: PYGL (Varview), LOC124903314 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000343/1 (KOREAN)
HGVS:: NC_000014.9:g.50944294T>A, NC_000014.8:g.51411012T>A, NG_012796.1:g.5237A>T, NM_002863.5:c.110A>T, NM_002863.4:c.110A>T, NM_001163940.2:c.110A>T, NM_001163940.1:c.110A>T, NP_002854.3:p.His37Leu, NP_001157412.1:p.His37Leu

Select item 14837033156.

rs1483703315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:50935110 (GRCh38)
14:51401828 (GRCh37)
Canonical SPDI:: NC_000014.9:50935109:C:G
Gene:: PYGL (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.50935110C>G, NC_000014.8:g.51401828C>G, NG_012796.1:g.14421G>C, NM_002863.5:c.421G>C, NM_002863.4:c.421G>C, NM_001163940.2:c.319G>C, NM_001163940.1:c.319G>C, NP_002854.3:p.Ala141Pro, NP_001157412.1:p.Ala107Pro

Select item 14816341637.

rs1481634163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:50913060 (GRCh38)
14:51379778 (GRCh37)
Canonical SPDI:: NC_000014.9:50913059:A:T
Gene:: PYGL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50913060A>T, NC_000014.8:g.51379778A>T, NG_012796.1:g.36471T>A, NM_002863.5:c.1589T>A, NM_002863.4:c.1589T>A, NM_001163940.2:c.1487T>A, NM_001163940.1:c.1487T>A, NP_002854.3:p.Val530Asp, NP_001157412.1:p.Val496Asp

Select item 14789917928.

rs1478991792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50908933 (GRCh38)
14:51375651 (GRCh37)
Canonical SPDI:: NC_000014.9:50908932:C:T
Gene:: PYGL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000014.9:g.50908933C>T, NC_000014.8:g.51375651C>T, NG_012796.1:g.40598G>A, NM_002863.5:c.2200G>A, NM_002863.4:c.2200G>A, NM_001163940.2:c.2098G>A, NM_001163940.1:c.2098G>A, NP_002854.3:p.Glu734Lys, NP_001157412.1:p.Glu700Lys

Select item 14780458049.

rs1478045804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:50909947 (GRCh38)
14:51376665 (GRCh37)
Canonical SPDI:: NC_000014.9:50909946:G:C
Gene:: PYGL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.50909947G>C, NC_000014.8:g.51376665G>C, NG_012796.1:g.39584C>G, NM_002863.5:c.2125C>G, NM_002863.4:c.2125C>G, NM_001163940.2:c.2023C>G, NM_001163940.1:c.2023C>G, NP_002854.3:p.Leu709Val, NP_001157412.1:p.Leu675Val

Select item 147721592010.

rs1477215920 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAGCGCCCAGGCG [Show Flanks]
Chromosome:: 14:50915952 (GRCh38)
14:51382671 (GRCh37)
Canonical SPDI:: NC_000014.9:50915952::CAGCGCCCAGGCG
Gene:: PYGL (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant
HGVS:: NC_000014.9:g.50915952_50915953insCAGCGCCCAGGCG, NC_000014.8:g.51382670_51382671insCAGCGCCCAGGCG, NG_012796.1:g.33578_33579insCGCCTGGGCGCTG, NM_002863.5:c.1111_1112insCGCCTGGGCGCTG, NM_002863.4:c.1111_1112insCGCCTGGGCGCTG, NM_001163940.2:c.1009_1010insCGCCTGGGCGCTG, NM_001163940.1:c.1009_1010insCGCCTGGGCGCTG, NP_002854.3:p.Lys371delinsThrProGlyArgTer, NP_001157412.1:p.Lys337delinsThrProGlyArgTer

Select item 147697158711.

rs1476971587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:50905436 (GRCh38)
14:51372154 (GRCh37)
Canonical SPDI:: NC_000014.9:50905435:T:G
Gene:: PYGL (Varview), ABHD12B (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000014.9:g.50905436T>G, NC_000014.8:g.51372154T>G, NG_012796.1:g.44095A>C, NM_002863.5:c.2500A>C, NM_002863.4:c.2500A>C, NM_001163940.2:c.2398A>C, NM_001163940.1:c.2398A>C, NP_002854.3:p.Lys834Gln, NP_001157412.1:p.Lys800Gln

Select item 147571369812.

rs1475713698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:50944303 (GRCh38)
14:51411021 (GRCh37)
Canonical SPDI:: NC_000014.9:50944302:C:A,NC_000014.9:50944302:C:G
Gene:: PYGL (Varview), LOC124903314 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50944303C>A, NC_000014.9:g.50944303C>G, NC_000014.8:g.51411021C>A, NC_000014.8:g.51411021C>G, NG_012796.1:g.5228G>T, NG_012796.1:g.5228G>C, NM_002863.5:c.101G>T, NM_002863.5:c.101G>C, NM_002863.4:c.101G>T, NM_002863.4:c.101G>C, NM_001163940.2:c.101G>T, NM_001163940.2:c.101G>C, NM_001163940.1:c.101G>T, NM_001163940.1:c.101G>C, NP_002854.3:p.Arg34Leu, NP_002854.3:p.Arg34Pro, NP_001157412.1:p.Arg34Leu, NP_001157412.1:p.Arg34Pro

Select item 147524704813.

rs1475247048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50921048 (GRCh38)
14:51387766 (GRCh37)
Canonical SPDI:: NC_000014.9:50921047:T:C
Gene:: PYGL (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)
HGVS:: NC_000014.9:g.50921048T>C, NC_000014.8:g.51387766T>C, NG_012796.1:g.28483A>G, NM_002863.5:c.680A>G, NM_002863.4:c.680A>G, NM_001163940.2:c.578A>G, NM_001163940.1:c.578A>G, NP_002854.3:p.Tyr227Cys, NP_001157412.1:p.Tyr193Cys

Select item 147350709114.

rs1473507091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:50915877 (GRCh38)
14:51382595 (GRCh37)
Canonical SPDI:: NC_000014.9:50915876:A:C
Gene:: PYGL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50915877A>C, NC_000014.8:g.51382595A>C, NG_012796.1:g.33654T>G, NM_002863.5:c.1187T>G, NM_002863.4:c.1187T>G, NM_001163940.2:c.1085T>G, NM_001163940.1:c.1085T>G, NP_002854.3:p.Leu396Arg, NP_001157412.1:p.Leu362Arg

Select item 147347053115.

rs1473470531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:50916964 (GRCh38)
14:51383682 (GRCh37)
Canonical SPDI:: NC_000014.9:50916963:G:A
Gene:: PYGL (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50916964G>A, NC_000014.8:g.51383682G>A, NG_012796.1:g.32567C>T, NM_002863.5:c.997C>T, NM_002863.4:c.997C>T, NM_001163940.2:c.895C>T, NM_001163940.1:c.895C>T, NP_002854.3:p.Gln333Ter, NP_001157412.1:p.Gln299Ter

Select item 147277881816.

rs1472778818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50944365 (GRCh38)
14:51411083 (GRCh37)
Canonical SPDI:: NC_000014.9:50944364:C:T
Gene:: PYGL (Varview), LOC124903314 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50944365C>T, NC_000014.8:g.51411083C>T, NG_012796.1:g.5166G>A, NM_002863.5:c.39G>A, NM_002863.4:c.39G>A, NM_001163940.2:c.39G>A, NM_001163940.1:c.39G>A

Select item 147261444517.

rs1472614445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:50920979 (GRCh38)
14:51387697 (GRCh37)
Canonical SPDI:: NC_000014.9:50920978:G:A
Gene:: PYGL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50920979G>A, NC_000014.8:g.51387697G>A, NG_012796.1:g.28552C>T, NM_002863.5:c.749C>T, NM_002863.4:c.749C>T, NM_001163940.2:c.647C>T, NM_001163940.1:c.647C>T, NP_002854.3:p.Pro250Leu, NP_001157412.1:p.Pro216Leu

Select item 147183183018.

rs1471831830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:50915963 (GRCh38)
14:51382681 (GRCh37)
Canonical SPDI:: NC_000014.9:50915962:C:G,NC_000014.9:50915962:C:T
Gene:: PYGL (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50915963C>G, NC_000014.9:g.50915963C>T, NC_000014.8:g.51382681C>G, NC_000014.8:g.51382681C>T, NG_012796.1:g.33568G>C, NG_012796.1:g.33568G>A, NM_002863.5:c.1101G>C, NM_002863.5:c.1101G>A, NM_002863.4:c.1101G>C, NM_002863.4:c.1101G>A, NM_001163940.2:c.999G>C, NM_001163940.2:c.999G>A, NM_001163940.1:c.999G>C, NM_001163940.1:c.999G>A, NP_002854.3:p.Glu367Asp, NP_001157412.1:p.Glu333Asp

Select item 147016874619.

rs1470168746 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTCTGGGTGAGCTCCCATG>- [Show Flanks]
Chromosome:: 14:50915950 (GRCh38)
14:51382668 (GRCh37)
Canonical SPDI:: NC_000014.9:50915948:GTCTTCTGGGTGAGCTCCCATG:G
Gene:: PYGL (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50915950_50915970del, NC_000014.8:g.51382668_51382688del, NG_012796.1:g.33562_33582del, NM_002863.5:c.1095_1115del, NM_002863.4:c.1095_1115del, NM_001163940.2:c.993_1013del, NM_001163940.1:c.993_1013del, NP_002854.3:p.Trp366_Thr372del, NP_001157412.1:p.Trp332_Thr338del

Select item 146919862020.

rs1469198620 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACCAGGTGGTCGCGCACC>- [Show Flanks]
Chromosome:: 14:50944209 (GRCh38)
14:51410927 (GRCh37)
Canonical SPDI:: NC_000014.9:50944206:CCCACCAGGTGGTCGCGCACC:CC
Gene:: PYGL (Varview), LOC124903314 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000014.9:g.50944209_50944227del, NC_000014.8:g.51410927_51410945del, NG_012796.1:g.5306_5324del, NM_002863.5:c.179_197del, NM_002863.4:c.179_197del, NM_001163940.2:c.179_197del, NM_001163940.1:c.179_197del, NP_002854.3:p.Val60fs, NP_001157412.1:p.Val60fs

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