SNP Links for Protein (Select 767922923) - SNP

Links from Protein

Items: 1 to 20 of 599

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Select item 14901654071.

rs1490165407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:57260121 (GRCh38)
3:57294149 (GRCh37)
Canonical SPDI:: NC_000003.12:57260120:A:G
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57260121A>G, NC_000003.11:g.57294149A>G, NG_047003.1:g.37385A>G, NM_012096.3:c.1663A>G, NM_012096.2:c.1663A>G, XM_011533583.4:c.1612A>G, XM_011533583.3:c.1612A>G, XM_011533583.2:c.1612A>G, XM_011533583.1:c.1612A>G, NP_036228.1:p.Ile555Val, XP_011531885.1:p.Ile538Val

Select item 14872018962.

rs1487201896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:57237531 (GRCh38)
3:57271559 (GRCh37)
Canonical SPDI:: NC_000003.12:57237530:T:C
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.57237531T>C, NC_000003.11:g.57271559T>C, NG_047003.1:g.14795T>C, NM_012096.3:c.193T>C, NM_012096.2:c.193T>C, XM_011533583.4:c.142T>C, XM_011533583.3:c.142T>C, XM_011533583.2:c.142T>C, XM_011533583.1:c.142T>C

Select item 14856350923.

rs1485635092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:57247446 (GRCh38)
3:57281474 (GRCh37)
Canonical SPDI:: NC_000003.12:57247445:T:A
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.57247446T>A, NC_000003.11:g.57281474T>A, NG_047003.1:g.24710T>A, NM_012096.3:c.673T>A, NM_012096.2:c.673T>A, XM_011533583.4:c.622T>A, XM_011533583.3:c.622T>A, XM_011533583.2:c.622T>A, XM_011533583.1:c.622T>A, NP_036228.1:p.Phe225Ile, XP_011531885.1:p.Phe208Ile

Select item 14855850604.

rs1485585060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57238105 (GRCh38)
3:57272133 (GRCh37)
Canonical SPDI:: NC_000003.12:57238104:G:A
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.57238105G>A, NC_000003.11:g.57272133G>A, NG_047003.1:g.15369G>A, NM_012096.3:c.274G>A, NM_012096.2:c.274G>A, XM_011533583.4:c.223G>A, XM_011533583.3:c.223G>A, XM_011533583.2:c.223G>A, XM_011533583.1:c.223G>A, NP_036228.1:p.Val92Ile, XP_011531885.1:p.Val75Ile

Select item 14840195765.

rs1484019576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:57248322 (GRCh38)
3:57282350 (GRCh37)
Canonical SPDI:: NC_000003.12:57248321:C:T
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.57248322C>T, NC_000003.11:g.57282350C>T, NG_047003.1:g.25586C>T, NM_012096.3:c.834C>T, NM_012096.2:c.834C>T, XM_011533583.4:c.783C>T, XM_011533583.3:c.783C>T, XM_011533583.2:c.783C>T, XM_011533583.1:c.783C>T

Select item 14830402546.

rs1483040254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:57259848 (GRCh38)
3:57293876 (GRCh37)
Canonical SPDI:: NC_000003.12:57259847:C:A
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57259848C>A, NC_000003.11:g.57293876C>A, NG_047003.1:g.37112C>A, NM_012096.3:c.1487C>A, NM_012096.2:c.1487C>A, XM_011533583.4:c.1436C>A, XM_011533583.3:c.1436C>A, XM_011533583.2:c.1436C>A, XM_011533583.1:c.1436C>A, NP_036228.1:p.Ser496Tyr, XP_011531885.1:p.Ser479Tyr

Select item 14802079647.

rs1480207964 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 3:57269656 (GRCh38)
3:57303684 (GRCh37)
Canonical SPDI:: NC_000003.12:57269653:AGAAG:AG
Gene:: APPL1 (Varview), ASB14 (Varview), LOC105377102 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.57269656_57269658del, NC_000003.11:g.57303684_57303686del, NG_047003.1:g.46920_46922del, NM_012096.3:c.2099_2101del, NM_012096.2:c.2099_2101del, XM_011533583.4:c.2048_2050del, XM_011533583.3:c.2048_2050del, XM_011533583.2:c.2048_2050del, XM_011533583.1:c.2048_2050del, NR_135535.1:n.91_93del, NP_036228.1:p.Glu700del, XP_011531885.1:p.Glu683del

Select item 14781139708.

rs1478113970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:57256964 (GRCh38)
3:57290992 (GRCh37)
Canonical SPDI:: NC_000003.12:57256963:C:G,NC_000003.12:57256963:C:T
Gene:: APPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.57256964C>G, NC_000003.12:g.57256964C>T, NC_000003.11:g.57290992C>G, NC_000003.11:g.57290992C>T, NG_047003.1:g.34228C>G, NG_047003.1:g.34228C>T, NM_012096.3:c.1160C>G, NM_012096.3:c.1160C>T, NM_012096.2:c.1160C>G, NM_012096.2:c.1160C>T, XM_011533583.4:c.1109C>G, XM_011533583.4:c.1109C>T, XM_011533583.3:c.1109C>G, XM_011533583.3:c.1109C>T, XM_011533583.2:c.1109C>G, XM_011533583.2:c.1109C>T, XM_011533583.1:c.1109C>G, XM_011533583.1:c.1109C>T, NP_036228.1:p.Ala387Gly, NP_036228.1:p.Ala387Val, XP_011531885.1:p.Ala370Gly, XP_011531885.1:p.Ala370Val

Select item 14771002609.

rs1477100260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57260711 (GRCh38)
3:57294739 (GRCh37)
Canonical SPDI:: NC_000003.12:57260710:G:A
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57260711G>A, NC_000003.11:g.57294739G>A, NG_047003.1:g.37975G>A, NM_012096.3:c.1779G>A, NM_012096.2:c.1779G>A, XM_011533583.4:c.1728G>A, XM_011533583.3:c.1728G>A, XM_011533583.2:c.1728G>A, XM_011533583.1:c.1728G>A

Select item 147623505310.

rs1476235053 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:57247473 (GRCh38)
3:57281501 (GRCh37)
Canonical SPDI:: NC_000003.12:57247472:C:
Gene:: APPL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000066/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.57247473del, NC_000003.11:g.57281501del, NG_047003.1:g.24737del, NM_012096.3:c.700del, NM_012096.2:c.700del, XM_011533583.4:c.649del, XM_011533583.3:c.649del, XM_011533583.2:c.649del, XM_011533583.1:c.649del, NP_036228.1:p.Gln234fs, XP_011531885.1:p.Gln217fs

Select item 147548081211.

rs1475480812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57249479 (GRCh38)
3:57283507 (GRCh37)
Canonical SPDI:: NC_000003.12:57249478:G:A
Gene:: APPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.57249479G>A, NC_000003.11:g.57283507G>A, NG_047003.1:g.26743G>A, NM_012096.3:c.983G>A, NM_012096.2:c.983G>A, XM_011533583.4:c.932G>A, XM_011533583.3:c.932G>A, XM_011533583.2:c.932G>A, XM_011533583.1:c.932G>A, NP_036228.1:p.Cys328Tyr, XP_011531885.1:p.Cys311Tyr

Select item 146853296612.

rs1468532966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:57248272 (GRCh38)
3:57282300 (GRCh37)
Canonical SPDI:: NC_000003.12:57248271:T:C
Gene:: APPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57248272T>C, NC_000003.11:g.57282300T>C, NG_047003.1:g.25536T>C, NM_012096.3:c.784T>C, NM_012096.2:c.784T>C, XM_011533583.4:c.733T>C, XM_011533583.3:c.733T>C, XM_011533583.2:c.733T>C, XM_011533583.1:c.733T>C, NP_036228.1:p.Tyr262His, XP_011531885.1:p.Tyr245His

Select item 146845690213.

rs1468456902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:57240530 (GRCh38)
3:57274558 (GRCh37)
Canonical SPDI:: NC_000003.12:57240529:G:C
Gene:: APPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000212/4 (TOMMO)
HGVS:: NC_000003.12:g.57240530G>C, NC_000003.11:g.57274558G>C, NG_047003.1:g.17794G>C, NM_012096.3:c.351G>C, NM_012096.2:c.351G>C, XM_011533583.4:c.300G>C, XM_011533583.3:c.300G>C, XM_011533583.2:c.300G>C, XM_011533583.1:c.300G>C, NP_036228.1:p.Gln117His, XP_011531885.1:p.Gln100His

Select item 146733442814.

rs1467334428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:57267783 (GRCh38)
3:57301811 (GRCh37)
Canonical SPDI:: NC_000003.12:57267782:T:C
Gene:: APPL1 (Varview), LOC105377102 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.57267783T>C, NC_000003.11:g.57301811T>C, NG_047003.1:g.45047T>C, NM_012096.3:c.1884T>C, NM_012096.2:c.1884T>C, XM_011533583.4:c.1833T>C, XM_011533583.3:c.1833T>C, XM_011533583.2:c.1833T>C, XM_011533583.1:c.1833T>C

Select item 146712466515.

rs1467124665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:57259049 (GRCh38)
3:57293077 (GRCh37)
Canonical SPDI:: NC_000003.12:57259048:A:C
Gene:: APPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.57259049A>C, NC_000003.11:g.57293077A>C, NG_047003.1:g.36313A>C, NM_012096.3:c.1452A>C, NM_012096.2:c.1452A>C, XM_011533583.4:c.1401A>C, XM_011533583.3:c.1401A>C, XM_011533583.2:c.1401A>C, XM_011533583.1:c.1401A>C, NP_036228.1:p.Glu484Asp, XP_011531885.1:p.Glu467Asp

Select item 146679681816.

rs1466796818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:57246161 (GRCh38)
3:57280189 (GRCh37)
Canonical SPDI:: NC_000003.12:57246160:C:G,NC_000003.12:57246160:C:T
Gene:: APPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57246161C>G, NC_000003.12:g.57246161C>T, NC_000003.11:g.57280189C>G, NC_000003.11:g.57280189C>T, NG_047003.1:g.23425C>G, NG_047003.1:g.23425C>T, NM_012096.3:c.560C>G, NM_012096.3:c.560C>T, NM_012096.2:c.560C>G, NM_012096.2:c.560C>T, XM_011533583.4:c.509C>G, XM_011533583.4:c.509C>T, XM_011533583.3:c.509C>G, XM_011533583.3:c.509C>T, XM_011533583.2:c.509C>G, XM_011533583.2:c.509C>T, XM_011533583.1:c.509C>G, XM_011533583.1:c.509C>T, NP_036228.1:p.Thr187Ser, NP_036228.1:p.Thr187Ile, XP_011531885.1:p.Thr170Ser, XP_011531885.1:p.Thr170Ile

Select item 146644421917.

rs1466444219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57260753 (GRCh38)
3:57294781 (GRCh37)
Canonical SPDI:: NC_000003.12:57260752:G:A
Gene:: APPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.57260753G>A, NC_000003.11:g.57294781G>A, NG_047003.1:g.38017G>A, NM_012096.3:c.1821G>A, NM_012096.2:c.1821G>A, XM_011533583.4:c.1770G>A, XM_011533583.3:c.1770G>A, XM_011533583.2:c.1770G>A, XM_011533583.1:c.1770G>A

Select item 146603337418.

rs1466033374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:57259933 (GRCh38)
3:57293961 (GRCh37)
Canonical SPDI:: NC_000003.12:57259932:T:G
Gene:: APPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57259933T>G, NC_000003.11:g.57293961T>G, NG_047003.1:g.37197T>G, NM_012096.3:c.1572T>G, NM_012096.2:c.1572T>G, XM_011533583.4:c.1521T>G, XM_011533583.3:c.1521T>G, XM_011533583.2:c.1521T>G, XM_011533583.1:c.1521T>G

Select item 146423821119.

rs1464238211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:57235649 (GRCh38)
3:57269677 (GRCh37)
Canonical SPDI:: NC_000003.12:57235648:G:T
Gene:: APPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57235649G>T, NC_000003.11:g.57269677G>T, NG_047003.1:g.12913G>T, NM_012096.3:c.138G>T, NM_012096.2:c.138G>T, XM_011533583.4:c.87G>T, XM_011533583.3:c.87G>T, XM_011533583.2:c.87G>T, XM_011533583.1:c.87G>T

Select item 146418006020.

rs1464180060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:57238047 (GRCh38)
3:57272075 (GRCh37)
Canonical SPDI:: NC_000003.12:57238046:T:G
Gene:: APPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.57238047T>G, NC_000003.11:g.57272075T>G, NG_047003.1:g.15311T>G, NM_012096.3:c.216T>G, NM_012096.2:c.216T>G, XM_011533583.4:c.165T>G, XM_011533583.3:c.165T>G, XM_011533583.2:c.165T>G, XM_011533583.1:c.165T>G

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