SNP Links for Protein (Select 530402482) - SNP

Links from Protein

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Select item 14895002391.

rs1489500239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45004404 (GRCh38)
13:45578539 (GRCh37)
Canonical SPDI:: NC_000013.11:45004403:A:C
Gene:: GPALPP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45004404A>C, NC_000013.10:g.45578539A>C, NM_018559.5:c.188A>C, NM_018559.4:c.188A>C, NM_018559.3:c.188A>C, NM_018559.2:c.188A>C, XM_005266444.4:c.188A>C, XM_005266444.3:c.188A>C, XM_005266444.2:c.188A>C, XM_005266444.1:c.188A>C, NM_001316952.2:c.-303A>C, NM_001316952.1:c.-303A>C, NM_001316951.2:c.188A>C, NM_001316951.1:c.188A>C, XM_047430436.1:c.188A>C, XM_047430438.1:c.188A>C, NP_061029.2:p.Glu63Ala, XP_005266501.1:p.Glu63Ala, NP_001303880.1:p.Glu63Ala, XP_047286392.1:p.Glu63Ala, XP_047286394.1:p.Glu63Ala

Select item 14842661062.

rs1484266106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44989690 (GRCh38)
13:45563825 (GRCh37)
Canonical SPDI:: NC_000013.11:44989689:C:T
Gene:: NUFIP1 (Varview), GPALPP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.44989690C>T, NC_000013.10:g.45563825C>T, NG_032080.1:g.4789G>A, NM_018559.5:c.36C>T, NM_018559.4:c.36C>T, NM_018559.3:c.36C>T, NM_018559.2:c.36C>T, XM_005266444.4:c.36C>T, XM_005266444.3:c.36C>T, XM_005266444.2:c.36C>T, XM_005266444.1:c.36C>T, NM_001316952.2:c.-455C>T, NM_001316952.1:c.-455C>T, NM_001316951.2:c.36C>T, NM_001316951.1:c.36C>T, XM_047430436.1:c.36C>T, XM_047430438.1:c.36C>T

Select item 14765254083.

rs1476525408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45020425 (GRCh38)
13:45594560 (GRCh37)
Canonical SPDI:: NC_000013.11:45020424:C:T
Gene:: GPALPP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45020425C>T, NC_000013.10:g.45594560C>T, NM_018559.5:c.801C>T, NM_018559.4:c.801C>T, NM_018559.3:c.801C>T, NM_018559.2:c.801C>T, XM_005266444.4:c.801C>T, XM_005266444.3:c.801C>T, XM_005266444.2:c.801C>T, XM_005266444.1:c.801C>T, XM_011535144.3:c.432C>T, XM_011535144.2:c.432C>T, XM_011535144.1:c.432C>T, NM_001316952.2:c.432C>T, NM_001316952.1:c.432C>T, NM_001316951.2:c.801C>T, NM_001316951.1:c.801C>T, XM_047430436.1:c.801C>T, XM_047430437.1:c.354C>T

Select item 14730365024.

rs1473036502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45015509 (GRCh38)
13:45589644 (GRCh37)
Canonical SPDI:: NC_000013.11:45015508:A:G
Gene:: GPALPP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45015509A>G, NC_000013.10:g.45589644A>G, NM_018559.5:c.618A>G, NM_018559.4:c.618A>G, NM_018559.3:c.618A>G, NM_018559.2:c.618A>G, XM_005266444.4:c.618A>G, XM_005266444.3:c.618A>G, XM_005266444.2:c.618A>G, XM_005266444.1:c.618A>G, XM_011535144.3:c.249A>G, XM_011535144.2:c.249A>G, XM_011535144.1:c.249A>G, NM_001316952.2:c.249A>G, NM_001316952.1:c.249A>G, NM_001316951.2:c.618A>G, NM_001316951.1:c.618A>G, XM_047430436.1:c.618A>G, XM_047430437.1:c.171A>G, XM_047430438.1:c.*137A>G

Select item 14686485665.

rs1468648566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:44989694 (GRCh38)
13:45563829 (GRCh37)
Canonical SPDI:: NC_000013.11:44989693:T:A
Gene:: NUFIP1 (Varview), GPALPP1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.44989694T>A, NC_000013.10:g.45563829T>A, NG_032080.1:g.4785A>T, NM_018559.5:c.40T>A, NM_018559.4:c.40T>A, NM_018559.3:c.40T>A, NM_018559.2:c.40T>A, XM_005266444.4:c.40T>A, XM_005266444.3:c.40T>A, XM_005266444.2:c.40T>A, XM_005266444.1:c.40T>A, NM_001316952.2:c.-451T>A, NM_001316952.1:c.-451T>A, NM_001316951.2:c.40T>A, NM_001316951.1:c.40T>A, XM_047430436.1:c.40T>A, XM_047430438.1:c.40T>A, NP_061029.2:p.Phe14Ile, XP_005266501.1:p.Phe14Ile, NP_001303880.1:p.Phe14Ile, XP_047286392.1:p.Phe14Ile, XP_047286394.1:p.Phe14Ile

Select item 14661698616.

rs1466169861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44989727 (GRCh38)
13:45563862 (GRCh37)
Canonical SPDI:: NC_000013.11:44989726:C:T
Gene:: NUFIP1 (Varview), GPALPP1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.44989727C>T, NC_000013.10:g.45563862C>T, NG_032080.1:g.4752G>A, NM_018559.5:c.73C>T, NM_018559.4:c.73C>T, NM_018559.3:c.73C>T, NM_018559.2:c.73C>T, XM_005266444.4:c.73C>T, XM_005266444.3:c.73C>T, XM_005266444.2:c.73C>T, XM_005266444.1:c.73C>T, NM_001316952.2:c.-418C>T, NM_001316952.1:c.-418C>T, NM_001316951.2:c.73C>T, NM_001316951.1:c.73C>T, XM_047430436.1:c.73C>T, XM_047430438.1:c.73C>T, NP_061029.2:p.Arg25Trp, XP_005266501.1:p.Arg25Trp, NP_001303880.1:p.Arg25Trp, XP_047286392.1:p.Arg25Trp, XP_047286394.1:p.Arg25Trp

Select item 14655636467.

rs1465563646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45020424 (GRCh38)
13:45594559 (GRCh37)
Canonical SPDI:: NC_000013.11:45020423:A:G
Gene:: GPALPP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000013.11:g.45020424A>G, NC_000013.10:g.45594559A>G, NM_018559.5:c.800A>G, NM_018559.4:c.800A>G, NM_018559.3:c.800A>G, NM_018559.2:c.800A>G, XM_005266444.4:c.800A>G, XM_005266444.3:c.800A>G, XM_005266444.2:c.800A>G, XM_005266444.1:c.800A>G, XM_011535144.3:c.431A>G, XM_011535144.2:c.431A>G, XM_011535144.1:c.431A>G, NM_001316952.2:c.431A>G, NM_001316952.1:c.431A>G, NM_001316951.2:c.800A>G, NM_001316951.1:c.800A>G, XM_047430436.1:c.800A>G, XM_047430437.1:c.353A>G, NP_061029.2:p.Tyr267Cys, XP_005266501.1:p.Tyr267Cys, XP_011533446.1:p.Tyr144Cys, NP_001303881.1:p.Tyr144Cys, NP_001303880.1:p.Tyr267Cys, XP_047286392.1:p.Tyr267Cys, XP_047286393.1:p.Tyr118Cys

Select item 14626025978.

rs1462602597 [Homo sapiens]

Variant type:: DEL
Alleles:: TCCTCCA>- [Show Flanks]
Chromosome:: 13:45015476 (GRCh38)
13:45589611 (GRCh37)
Canonical SPDI:: NC_000013.11:45015475:TCCTCCA:
Gene:: GPALPP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45015476_45015482del, NC_000013.10:g.45589611_45589617del, NM_018559.5:c.585_591del, NM_018559.4:c.585_591del, NM_018559.3:c.585_591del, NM_018559.2:c.585_591del, XM_005266444.4:c.585_591del, XM_005266444.3:c.585_591del, XM_005266444.2:c.585_591del, XM_005266444.1:c.585_591del, XM_011535144.3:c.216_222del, XM_011535144.2:c.216_222del, XM_011535144.1:c.216_222del, NM_001316952.2:c.216_222del, NM_001316952.1:c.216_222del, NM_001316951.2:c.585_591del, NM_001316951.1:c.585_591del, XM_047430436.1:c.585_591del, XM_047430437.1:c.138_144del, XM_047430438.1:c.*104_*110del, NP_061029.2:p.Pro196fs, XP_005266501.1:p.Pro196fs, XP_011533446.1:p.Pro73fs, NP_001303881.1:p.Pro73fs, NP_001303880.1:p.Pro196fs, XP_047286392.1:p.Pro196fs, XP_047286393.1:p.Pro47fs

Select item 14545434369.

rs1454543436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:45020393 (GRCh38)
13:45594528 (GRCh37)
Canonical SPDI:: NC_000013.11:45020392:G:C
Gene:: GPALPP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45020393G>C, NC_000013.10:g.45594528G>C, NM_018559.5:c.769G>C, NM_018559.4:c.769G>C, NM_018559.3:c.769G>C, NM_018559.2:c.769G>C, XM_005266444.4:c.769G>C, XM_005266444.3:c.769G>C, XM_005266444.2:c.769G>C, XM_005266444.1:c.769G>C, XM_011535144.3:c.400G>C, XM_011535144.2:c.400G>C, XM_011535144.1:c.400G>C, NM_001316952.2:c.400G>C, NM_001316952.1:c.400G>C, NM_001316951.2:c.769G>C, NM_001316951.1:c.769G>C, XM_047430436.1:c.769G>C, XM_047430437.1:c.322G>C, NP_061029.2:p.Asp257His, XP_005266501.1:p.Asp257His, XP_011533446.1:p.Asp134His, NP_001303881.1:p.Asp134His, NP_001303880.1:p.Asp257His, XP_047286392.1:p.Asp257His, XP_047286393.1:p.Asp108His

Select item 145313056210.

rs1453130562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45004409 (GRCh38)
13:45578544 (GRCh37)
Canonical SPDI:: NC_000013.11:45004408:G:A
Gene:: GPALPP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45004409G>A, NC_000013.10:g.45578544G>A, NM_018559.5:c.193G>A, NM_018559.4:c.193G>A, NM_018559.3:c.193G>A, NM_018559.2:c.193G>A, XM_005266444.4:c.193G>A, XM_005266444.3:c.193G>A, XM_005266444.2:c.193G>A, XM_005266444.1:c.193G>A, NM_001316952.2:c.-298G>A, NM_001316952.1:c.-298G>A, NM_001316951.2:c.193G>A, NM_001316951.1:c.193G>A, XM_047430436.1:c.193G>A, XM_047430438.1:c.193G>A, NP_061029.2:p.Glu65Lys, XP_005266501.1:p.Glu65Lys, NP_001303880.1:p.Glu65Lys, XP_047286392.1:p.Glu65Lys, XP_047286394.1:p.Glu65Lys

Select item 145295962511.

rs1452959625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45015447 (GRCh38)
13:45589582 (GRCh37)
Canonical SPDI:: NC_000013.11:45015446:A:G
Gene:: GPALPP1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45015447A>G, NC_000013.10:g.45589582A>G, NM_018559.5:c.556A>G, NM_018559.4:c.556A>G, NM_018559.3:c.556A>G, NM_018559.2:c.556A>G, XM_005266444.4:c.556A>G, XM_005266444.3:c.556A>G, XM_005266444.2:c.556A>G, XM_005266444.1:c.556A>G, XM_011535144.3:c.187A>G, XM_011535144.2:c.187A>G, XM_011535144.1:c.187A>G, NM_001316952.2:c.187A>G, NM_001316952.1:c.187A>G, NM_001316951.2:c.556A>G, NM_001316951.1:c.556A>G, XM_047430436.1:c.556A>G, XM_047430437.1:c.109A>G, XM_047430438.1:c.*75A>G, NP_061029.2:p.Ile186Val, XP_005266501.1:p.Ile186Val, XP_011533446.1:p.Ile63Val, NP_001303881.1:p.Ile63Val, NP_001303880.1:p.Ile186Val, XP_047286392.1:p.Ile186Val, XP_047286393.1:p.Ile37Val

Select item 145165315412.

rs1451653154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:44989662 (GRCh38)
13:45563797 (GRCh37)
Canonical SPDI:: NC_000013.11:44989661:G:A
Gene:: NUFIP1 (Varview), GPALPP1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.44989662G>A, NC_000013.10:g.45563797G>A, NG_032080.1:g.4817C>T, NM_018559.5:c.8G>A, NM_018559.4:c.8G>A, NM_018559.3:c.8G>A, NM_018559.2:c.8G>A, XM_005266444.4:c.8G>A, XM_005266444.3:c.8G>A, XM_005266444.2:c.8G>A, XM_005266444.1:c.8G>A, NM_001316952.2:c.-483G>A, NM_001316952.1:c.-483G>A, NM_001316951.2:c.8G>A, NM_001316951.1:c.8G>A, XM_047430436.1:c.8G>A, XM_047430438.1:c.8G>A, NP_061029.2:p.Arg3Lys, XP_005266501.1:p.Arg3Lys, NP_001303880.1:p.Arg3Lys, XP_047286392.1:p.Arg3Lys, XP_047286394.1:p.Arg3Lys

Select item 145158026613.

rs1451580266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:45006242 (GRCh38)
13:45580377 (GRCh37)
Canonical SPDI:: NC_000013.11:45006241:G:T
Gene:: GPALPP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45006242G>T, NC_000013.10:g.45580377G>T, NM_018559.5:c.262G>T, NM_018559.4:c.262G>T, NM_018559.3:c.262G>T, NM_018559.2:c.262G>T, XM_005266444.4:c.262G>T, XM_005266444.3:c.262G>T, XM_005266444.2:c.262G>T, XM_005266444.1:c.262G>T, NM_001316952.2:c.-229G>T, NM_001316952.1:c.-229G>T, NM_001316951.2:c.262G>T, NM_001316951.1:c.262G>T, XM_047430436.1:c.262G>T, XM_047430438.1:c.262G>T, NP_061029.2:p.Asp88Tyr, XP_005266501.1:p.Asp88Tyr, NP_001303880.1:p.Asp88Tyr, XP_047286392.1:p.Asp88Tyr, XP_047286394.1:p.Asp88Tyr

Select item 144501041314.

rs1445010413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 13:45015547 (GRCh38)
13:45589682 (GRCh37)
Canonical SPDI:: NC_000013.11:45015546:A:C,NC_000013.11:45015546:A:T
Gene:: GPALPP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.45015547A>C, NC_000013.11:g.45015547A>T, NC_000013.10:g.45589682A>C, NC_000013.10:g.45589682A>T, NM_018559.5:c.656A>C, NM_018559.5:c.656A>T, NM_018559.4:c.656A>C, NM_018559.4:c.656A>T, NM_018559.3:c.656A>C, NM_018559.3:c.656A>T, NM_018559.2:c.656A>C, NM_018559.2:c.656A>T, XM_005266444.4:c.656A>C, XM_005266444.4:c.656A>T, XM_005266444.3:c.656A>C, XM_005266444.3:c.656A>T, XM_005266444.2:c.656A>C, XM_005266444.2:c.656A>T, XM_005266444.1:c.656A>C, XM_005266444.1:c.656A>T, XM_011535144.3:c.287A>C, XM_011535144.3:c.287A>T, XM_011535144.2:c.287A>C, XM_011535144.2:c.287A>T, XM_011535144.1:c.287A>C, XM_011535144.1:c.287A>T, NM_001316952.2:c.287A>C, NM_001316952.2:c.287A>T, NM_001316952.1:c.287A>C, NM_001316952.1:c.287A>T, NM_001316951.2:c.656A>C, NM_001316951.2:c.656A>T, NM_001316951.1:c.656A>C, NM_001316951.1:c.656A>T, XM_047430436.1:c.656A>C, XM_047430436.1:c.656A>T, XM_047430437.1:c.209A>C, XM_047430437.1:c.209A>T, XM_047430438.1:c.*175A>C, XM_047430438.1:c.*175A>T, NP_061029.2:p.Asp219Ala, NP_061029.2:p.Asp219Val, XP_005266501.1:p.Asp219Ala, XP_005266501.1:p.Asp219Val, XP_011533446.1:p.Asp96Ala, XP_011533446.1:p.Asp96Val, NP_001303881.1:p.Asp96Ala, NP_001303881.1:p.Asp96Val, NP_001303880.1:p.Asp219Ala, NP_001303880.1:p.Asp219Val, XP_047286392.1:p.Asp219Ala, XP_047286392.1:p.Asp219Val, XP_047286393.1:p.Asp70Ala, XP_047286393.1:p.Asp70Val

Select item 144085924615.

rs1440859246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45027893 (GRCh38)
13:45602028 (GRCh37)
Canonical SPDI:: NC_000013.11:45027892:A:G
Gene:: GPALPP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.45027893A>G, NC_000013.10:g.45602028A>G, NM_018559.5:c.913A>G, NM_018559.4:c.913A>G, NM_018559.3:c.913A>G, NM_018559.2:c.913A>G, XM_005266444.4:c.913A>G, XM_005266444.3:c.913A>G, XM_005266444.2:c.913A>G, XM_005266444.1:c.913A>G, XM_011535144.3:c.544A>G, XM_011535144.2:c.544A>G, XM_011535144.1:c.544A>G, NM_001316952.2:c.544A>G, NM_001316952.1:c.544A>G, NM_001316951.2:c.913A>G, NM_001316951.1:c.913A>G, XM_047430436.1:c.913A>G, XM_047430437.1:c.466A>G, NP_061029.2:p.Lys305Glu, XP_005266501.1:p.Lys305Glu, XP_011533446.1:p.Lys182Glu, NP_001303881.1:p.Lys182Glu, NP_001303880.1:p.Lys305Glu, XP_047286392.1:p.Lys305Glu, XP_047286393.1:p.Lys156Glu

Select item 143989256916.

rs1439892569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45006290 (GRCh38)
13:45580425 (GRCh37)
Canonical SPDI:: NC_000013.11:45006289:G:A
Gene:: GPALPP1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000013.11:g.45006290G>A, NC_000013.10:g.45580425G>A, NM_018559.5:c.310G>A, NM_018559.4:c.310G>A, NM_018559.3:c.310G>A, NM_018559.2:c.310G>A, XM_005266444.4:c.310G>A, XM_005266444.3:c.310G>A, XM_005266444.2:c.310G>A, XM_005266444.1:c.310G>A, NM_001316952.2:c.-181G>A, NM_001316952.1:c.-181G>A, NM_001316951.2:c.310G>A, NM_001316951.1:c.310G>A, XM_047430436.1:c.310G>A, XM_047430438.1:c.310G>A, NP_061029.2:p.Asp104Asn, XP_005266501.1:p.Asp104Asn, NP_001303880.1:p.Asp104Asn, XP_047286392.1:p.Asp104Asn, XP_047286394.1:p.Asp104Asn

Select item 143798052217.

rs1437980522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45004429 (GRCh38)
13:45578564 (GRCh37)
Canonical SPDI:: NC_000013.11:45004428:A:C
Gene:: GPALPP1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000032/8 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45004429A>C, NC_000013.10:g.45578564A>C, NM_018559.5:c.213A>C, NM_018559.4:c.213A>C, NM_018559.3:c.213A>C, NM_018559.2:c.213A>C, XM_005266444.4:c.213A>C, XM_005266444.3:c.213A>C, XM_005266444.2:c.213A>C, XM_005266444.1:c.213A>C, NM_001316952.2:c.-278A>C, NM_001316952.1:c.-278A>C, NM_001316951.2:c.213A>C, NM_001316951.1:c.213A>C, XM_047430436.1:c.213A>C, XM_047430438.1:c.213A>C

Select item 143691600918.

rs1436916009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45020357 (GRCh38)
13:45594492 (GRCh37)
Canonical SPDI:: NC_000013.11:45020356:A:C
Gene:: GPALPP1 (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 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45020357A>C, NC_000013.10:g.45594492A>C, NM_018559.5:c.733A>C, NM_018559.4:c.733A>C, NM_018559.3:c.733A>C, NM_018559.2:c.733A>C, XM_005266444.4:c.733A>C, XM_005266444.3:c.733A>C, XM_005266444.2:c.733A>C, XM_005266444.1:c.733A>C, XM_011535144.3:c.364A>C, XM_011535144.2:c.364A>C, XM_011535144.1:c.364A>C, NM_001316952.2:c.364A>C, NM_001316952.1:c.364A>C, NM_001316951.2:c.733A>C, NM_001316951.1:c.733A>C, XM_047430436.1:c.733A>C, XM_047430437.1:c.286A>C, NP_061029.2:p.Ser245Arg, XP_005266501.1:p.Ser245Arg, XP_011533446.1:p.Ser122Arg, NP_001303881.1:p.Ser122Arg, NP_001303880.1:p.Ser245Arg, XP_047286392.1:p.Ser245Arg, XP_047286393.1:p.Ser96Arg

Select item 143649620819.

rs1436496208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44989703 (GRCh38)
13:45563838 (GRCh37)
Canonical SPDI:: NC_000013.11:44989702:C:T
Gene:: NUFIP1 (Varview), GPALPP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.44989703C>T, NC_000013.10:g.45563838C>T, NG_032080.1:g.4776G>A, NM_018559.5:c.49C>T, NM_018559.4:c.49C>T, NM_018559.3:c.49C>T, NM_018559.2:c.49C>T, XM_005266444.4:c.49C>T, XM_005266444.3:c.49C>T, XM_005266444.2:c.49C>T, XM_005266444.1:c.49C>T, NM_001316952.2:c.-442C>T, NM_001316952.1:c.-442C>T, NM_001316951.2:c.49C>T, NM_001316951.1:c.49C>T, XM_047430436.1:c.49C>T, XM_047430438.1:c.49C>T, NP_061029.2:p.Arg17Cys, XP_005266501.1:p.Arg17Cys, NP_001303880.1:p.Arg17Cys, XP_047286392.1:p.Arg17Cys, XP_047286394.1:p.Arg17Cys

Select item 142984072020.

rs1429840720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:45015554 (GRCh38)
13:45589689 (GRCh37)
Canonical SPDI:: NC_000013.11:45015553:A:C
Gene:: GPALPP1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45015554A>C, NC_000013.10:g.45589689A>C, NM_018559.5:c.663A>C, NM_018559.4:c.663A>C, NM_018559.3:c.663A>C, NM_018559.2:c.663A>C, XM_005266444.4:c.663A>C, XM_005266444.3:c.663A>C, XM_005266444.2:c.663A>C, XM_005266444.1:c.663A>C, XM_011535144.3:c.294A>C, XM_011535144.2:c.294A>C, XM_011535144.1:c.294A>C, NM_001316952.2:c.294A>C, NM_001316952.1:c.294A>C, NM_001316951.2:c.663A>C, NM_001316951.1:c.663A>C, XM_047430436.1:c.663A>C, XM_047430437.1:c.216A>C, XM_047430438.1:c.*182A>C

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