SNP Links for Protein (Select 223278368) - SNP

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Links from Protein

Items: 1 to 20 of 636

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Select item 14895781061.

rs1489578106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103584886 (GRCh38)
10:105344643 (GRCh37)
Canonical SPDI:: NC_000010.11:103584885:G:A
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.103584886G>A, NC_000010.10:g.105344643G>A, NM_004210.5:c.1000G>A, NM_004210.4:c.1000G>A, NP_004201.3:p.Val334Met

Select item 14886925792.

rs1488692579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103584879 (GRCh38)
10:105344636 (GRCh37)
Canonical SPDI:: NC_000010.11:103584878:C:T
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000025/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103584879C>T, NC_000010.10:g.105344636C>T, NM_004210.5:c.993C>T, NM_004210.4:c.993C>T

Select item 14880483503.

rs1488048350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:103590262 (GRCh38)
10:105350019 (GRCh37)
Canonical SPDI:: NC_000010.11:103590261:A:C
Gene:: NEURL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103590262A>C, NC_000010.10:g.105350019A>C, NM_004210.5:c.1615A>C, NM_004210.4:c.1615A>C, NP_004201.3:p.Met539Leu

Select item 14871090914.

rs1487109091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:103585080 (GRCh38)
10:105344837 (GRCh37)
Canonical SPDI:: NC_000010.11:103585079:C:G
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103585080C>G, NC_000010.10:g.105344837C>G, NM_004210.5:c.1194C>G, NM_004210.4:c.1194C>G, NP_004201.3:p.Ile398Met

Select item 14854898885.

rs1485489888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103584794 (GRCh38)
10:105344551 (GRCh37)
Canonical SPDI:: NC_000010.11:103584793:C:T
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000054/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103584794C>T, NC_000010.10:g.105344551C>T, NM_004210.5:c.908C>T, NM_004210.4:c.908C>T, NP_004201.3:p.Ala303Val

Select item 14853565216.

rs1485356521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:103584772 (GRCh38)
10:105344529 (GRCh37)
Canonical SPDI:: NC_000010.11:103584771:T:A
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103584772T>A, NC_000010.10:g.105344529T>A, NM_004210.5:c.886T>A, NM_004210.4:c.886T>A, NP_004201.3:p.Phe296Ile

Select item 14815616107.

rs1481561610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:103571655 (GRCh38)
10:105331412 (GRCh37)
Canonical SPDI:: NC_000010.11:103571654:T:G
Gene:: NEURL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.103571655T>G, NC_000010.10:g.105331412T>G, NM_004210.5:c.482T>G, NM_004210.4:c.482T>G, NP_004201.3:p.Phe161Cys

Select item 14798552018.

rs1479855201 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCACA [Show Flanks]
Chromosome:: 10:103570912 (GRCh38)
10:105330670 (GRCh37)
Canonical SPDI:: NC_000010.11:103570912:CACCACA:CACCACACCACA
Gene:: NEURL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: CACCA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103570915_103570919dup, NC_000010.10:g.105330672_105330676dup, NM_004210.5:c.129_133dup, NM_004210.4:c.129_133dup, NP_004201.3:p.Lys45fs

Select item 14783007229.

rs1478300722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103584731 (GRCh38)
10:105344488 (GRCh37)
Canonical SPDI:: NC_000010.11:103584730:A:G
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103584731A>G, NC_000010.10:g.105344488A>G, NM_004210.5:c.845A>G, NM_004210.4:c.845A>G, NP_004201.3:p.His282Arg

Select item 147827380110.

rs1478273801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103584822 (GRCh38)
10:105344579 (GRCh37)
Canonical SPDI:: NC_000010.11:103584821:G:A
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000026/1 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.103584822G>A, NC_000010.10:g.105344579G>A, NM_004210.5:c.936G>A, NM_004210.4:c.936G>A

Select item 147822368111.

rs1478223681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:103571562 (GRCh38)
10:105331319 (GRCh37)
Canonical SPDI:: NC_000010.11:103571561:C:A,NC_000010.11:103571561:C:T
Gene:: NEURL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103571562C>A, NC_000010.11:g.103571562C>T, NC_000010.10:g.105331319C>A, NC_000010.10:g.105331319C>T, NM_004210.5:c.389C>A, NM_004210.5:c.389C>T, NM_004210.4:c.389C>A, NM_004210.4:c.389C>T, NP_004201.3:p.Pro130Gln, NP_004201.3:p.Pro130Leu

Select item 147773430712.

rs1477734307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103590210 (GRCh38)
10:105349967 (GRCh37)
Canonical SPDI:: NC_000010.11:103590209:C:T
Gene:: NEURL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103590210C>T, NC_000010.10:g.105349967C>T, NM_004210.5:c.1563C>T, NM_004210.4:c.1563C>T

Select item 147759597413.

rs1477595974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103585089 (GRCh38)
10:105344846 (GRCh37)
Canonical SPDI:: NC_000010.11:103585088:G:C
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103585089G>C, NC_000010.10:g.105344846G>C, NM_004210.5:c.1203G>C, NM_004210.4:c.1203G>C

Select item 147661009114.

rs1476610091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103585035 (GRCh38)
10:105344792 (GRCh37)
Canonical SPDI:: NC_000010.11:103585034:C:T
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.103585035C>T, NC_000010.10:g.105344792C>T, NM_004210.5:c.1149C>T, NM_004210.4:c.1149C>T

Select item 147529486715.

rs1475294867 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGAGCGCG [Show Flanks]
Chromosome:: 10:103584842 (GRCh38)
10:105344600 (GRCh37)
Canonical SPDI:: NC_000010.11:103584842:GCGCGACGAGCGCG:GCGCGACGAGCGCGACGAGCGCG
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGACGAGCGCGACGAGCGCG=0./0 (ALFA)
GCGCGACGA=0.000004/1 (TOPMED)
GCGCGACGA=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103584848_103584856dup, NC_000010.10:g.105344605_105344613dup, NM_004210.5:c.962_970dup, NM_004210.4:c.962_970dup, NP_004201.3:p.Asp321_Arg323dup

Select item 147353270716.

rs1473532707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103585017 (GRCh38)
10:105344774 (GRCh37)
Canonical SPDI:: NC_000010.11:103585016:G:A
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000010.11:g.103585017G>A, NC_000010.10:g.105344774G>A, NM_004210.5:c.1131G>A, NM_004210.4:c.1131G>A

Select item 147339961417.

rs1473399614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103571782 (GRCh38)
10:105331539 (GRCh37)
Canonical SPDI:: NC_000010.11:103571781:G:C
Gene:: NEURL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103571782G>C, NC_000010.10:g.105331539G>C, NM_004210.5:c.609G>C, NM_004210.4:c.609G>C

Select item 147109681518.

rs1471096815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103494436 (GRCh38)
10:105254193 (GRCh37)
Canonical SPDI:: NC_000010.11:103494435:A:G
Gene:: NEURL1 (Varview), NEURL1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000010.11:g.103494436A>G, NC_000010.10:g.105254193A>G, NM_004210.5:c.49A>G, NM_004210.4:c.49A>G, NP_004201.3:p.Ser17Gly

Select item 147026078819.

rs1470260788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103589520 (GRCh38)
10:105349277 (GRCh37)
Canonical SPDI:: NC_000010.11:103589519:C:T
Gene:: NEURL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103589520C>T, NC_000010.10:g.105349277C>T, NM_004210.5:c.1346C>T, NM_004210.4:c.1346C>T, NP_004201.3:p.Thr449Ile

Select item 146973262920.

rs1469732629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:103584611 (GRCh38)
10:105344368 (GRCh37)
Canonical SPDI:: NC_000010.11:103584610:A:C,NC_000010.11:103584610:A:G
Gene:: NEURL1 (Varview), LOC124902496 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000425/12 (TOMMO)
HGVS:: NC_000010.11:g.103584611A>C, NC_000010.11:g.103584611A>G, NC_000010.10:g.105344368A>C, NC_000010.10:g.105344368A>G, NM_004210.5:c.725A>C, NM_004210.5:c.725A>G, NM_004210.4:c.725A>C, NM_004210.4:c.725A>G, NP_004201.3:p.Glu242Ala, NP_004201.3:p.Glu242Gly