SNP Links for Protein (Select 125660451) - SNP

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Links from Protein

Items: 1 to 20 of 440

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Select item 14879766081.

rs1487976608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:18934380 (GRCh38)
11:18955927 (GRCh37)
Canonical SPDI:: NC_000011.10:18934379:G:C
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.18934380G>C, NC_000011.9:g.18955927G>C, NM_147199.4:c.405C>G, NM_147199.3:c.405C>G, NM_001393578.1:c.405C>G

Select item 14807510282.

rs1480751028 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:18934511 (GRCh38)
11:18956058 (GRCh37)
Canonical SPDI:: NC_000011.10:18934510:GGGGG:GGGG
Gene:: MRGPRX1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000084/1 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.18934515del, NC_000011.9:g.18956062del, NM_147199.4:c.274del, NM_147199.3:c.274del, NM_001393578.1:c.274del, NP_671732.3:p.His92fs, NP_001380507.1:p.His92fs

Select item 14755460693.

rs1475546069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:18934280 (GRCh38)
11:18955827 (GRCh37)
Canonical SPDI:: NC_000011.10:18934279:C:G
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18934280C>G, NC_000011.9:g.18955827C>G, NM_147199.4:c.505G>C, NM_147199.3:c.505G>C, NM_001393578.1:c.505G>C, NP_671732.3:p.Asp169His, NP_001380507.1:p.Asp169His

Select item 14754750254.

rs1475475025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:18934754 (GRCh38)
11:18956301 (GRCh37)
Canonical SPDI:: NC_000011.10:18934753:C:A
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934754C>A, NC_000011.9:g.18956301C>A, NM_147199.4:c.31G>T, NM_147199.3:c.31G>T, NM_001393578.1:c.31G>T, NP_671732.3:p.Glu11Ter, NP_001380507.1:p.Glu11Ter

Select item 14727300105.

rs1472730010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:18934511 (GRCh38)
11:18956058 (GRCh37)
Canonical SPDI:: NC_000011.10:18934510:G:T
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18934511G>T, NC_000011.9:g.18956058G>T, NM_147199.4:c.274C>A, NM_147199.3:c.274C>A, NM_001393578.1:c.274C>A, NP_671732.3:p.His92Asn, NP_001380507.1:p.His92Asn

Select item 14688508086.

rs1468850808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18934656 (GRCh38)
11:18956203 (GRCh37)
Canonical SPDI:: NC_000011.10:18934655:T:C
Gene:: MRGPRX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18934656T>C, NC_000011.9:g.18956203T>C, NM_147199.4:c.129A>G, NM_147199.3:c.129A>G, NM_001393578.1:c.129A>G

Select item 14666120147.

rs1466612014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18934020 (GRCh38)
11:18955567 (GRCh37)
Canonical SPDI:: NC_000011.10:18934019:T:C
Gene:: MRGPRX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934020T>C, NC_000011.9:g.18955567T>C, NM_147199.4:c.765A>G, NM_147199.3:c.765A>G, NM_001393578.1:c.765A>G

Select item 14650499338.

rs1465049933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:18934287 (GRCh38)
11:18955834 (GRCh37)
Canonical SPDI:: NC_000011.10:18934286:A:G
Gene:: MRGPRX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934287A>G, NC_000011.9:g.18955834A>G, NM_147199.4:c.498T>C, NM_147199.3:c.498T>C, NM_001393578.1:c.498T>C

Select item 14635302629.

rs1463530262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:18934528 (GRCh38)
11:18956075 (GRCh37)
Canonical SPDI:: NC_000011.10:18934527:C:A
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00003/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934528C>A, NC_000011.9:g.18956075C>A, NM_147199.4:c.257G>T, NM_147199.3:c.257G>T, NM_001393578.1:c.257G>T, NP_671732.3:p.Ser86Ile, NP_001380507.1:p.Ser86Ile

Select item 146345083410.

rs1463450834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:18933962 (GRCh38)
11:18955509 (GRCh37)
Canonical SPDI:: NC_000011.10:18933961:C:T
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.18933962C>T, NC_000011.9:g.18955509C>T, NM_147199.4:c.823G>A, NM_147199.3:c.823G>A, NM_001393578.1:c.823G>A, NP_671732.3:p.Val275Met, NP_001380507.1:p.Val275Met

Select item 145683110211.

rs1456831102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:18934258 (GRCh38)
11:18955805 (GRCh37)
Canonical SPDI:: NC_000011.10:18934257:G:C
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934258G>C, NC_000011.9:g.18955805G>C, NM_147199.4:c.527C>G, NM_147199.3:c.527C>G, NM_001393578.1:c.527C>G, NP_671732.3:p.Ser176Ter, NP_001380507.1:p.Ser176Ter

Select item 145002100312.

rs1450021003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18934523 (GRCh38)
11:18956070 (GRCh37)
Canonical SPDI:: NC_000011.10:18934522:T:C
Gene:: MRGPRX1 (Varview)
Functional Consequence:: 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_000011.10:g.18934523T>C, NC_000011.9:g.18956070T>C, NM_147199.4:c.262A>G, NM_147199.3:c.262A>G, NM_001393578.1:c.262A>G, NP_671732.3:p.Ile88Val, NP_001380507.1:p.Ile88Val

Select item 144508752213.

rs1445087522 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:18934719 (GRCh38)
11:18956266 (GRCh37)
Canonical SPDI:: NC_000011.10:18934717:AAA:A
Gene:: MRGPRX1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000224/1 (Estonian)
HGVS:: NC_000011.10:g.18934719_18934720del, NC_000011.9:g.18956266_18956267del, NM_147199.4:c.66_67del, NM_147199.3:c.66_67del, NM_001393578.1:c.66_67del, NP_671732.3:p.Cys23fs, NP_001380507.1:p.Cys23fs

Select item 144348277214.

rs1443482772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:18934460 (GRCh38)
11:18956007 (GRCh37)
Canonical SPDI:: NC_000011.10:18934459:C:T
Gene:: MRGPRX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.18934460C>T, NC_000011.9:g.18956007C>T, NM_147199.4:c.325G>A, NM_147199.3:c.325G>A, NM_001393578.1:c.325G>A, NP_671732.3:p.Gly109Ser, NP_001380507.1:p.Gly109Ser

Select item 144318209715.

rs1443182097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATATATAAG>- [Show Flanks]
Chromosome:: 11:18934538 (GRCh38)
11:18956085 (GRCh37)
Canonical SPDI:: NC_000011.10:18934536:GAATATATAAG:G
Gene:: MRGPRX1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.18934538_18934547del, NC_000011.9:g.18956085_18956094del, NM_147199.4:c.239_248del, NM_147199.3:c.239_248del, NM_001393578.1:c.239_248del, NP_671732.3:p.Leu80fs, NP_001380507.1:p.Leu80fs

Select item 143717602816.

rs1437176028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:18934172 (GRCh38)
11:18955719 (GRCh37)
Canonical SPDI:: NC_000011.10:18934171:C:A
Gene:: MRGPRX1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934172C>A, NC_000011.9:g.18955719C>A, NM_147199.4:c.613G>T, NM_147199.3:c.613G>T, NM_001393578.1:c.613G>T, NP_671732.3:p.Gly205Ter, NP_001380507.1:p.Gly205Ter

Select item 143550238417.

rs1435502384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:18934559 (GRCh38)
11:18956106 (GRCh37)
Canonical SPDI:: NC_000011.10:18934558:G:T
Gene:: MRGPRX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.18934559G>T, NC_000011.9:g.18956106G>T, NM_147199.4:c.226C>A, NM_147199.3:c.226C>A, NM_001393578.1:c.226C>A, NP_671732.3:p.Leu76Ile, NP_001380507.1:p.Leu76Ile

Select item 143138544318.

rs1431385443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:18934383 (GRCh38)
11:18955930 (GRCh37)
Canonical SPDI:: NC_000011.10:18934382:G:C
Gene:: MRGPRX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934383G>C, NC_000011.9:g.18955930G>C, NM_147199.4:c.402C>G, NM_147199.3:c.402C>G, NM_001393578.1:c.402C>G

Select item 142378428919.

rs1423784289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:18934072 (GRCh38)
11:18955619 (GRCh37)
Canonical SPDI:: NC_000011.10:18934071:A:G
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.18934072A>G, NC_000011.9:g.18955619A>G, NM_147199.4:c.713T>C, NM_147199.3:c.713T>C, NM_001393578.1:c.713T>C, NP_671732.3:p.Leu238Pro, NP_001380507.1:p.Leu238Pro

Select item 142358794820.

rs1423587948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:18934613 (GRCh38)
11:18956160 (GRCh37)
Canonical SPDI:: NC_000011.10:18934612:T:C,NC_000011.10:18934612:T:G
Gene:: MRGPRX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000057/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18934613T>C, NC_000011.10:g.18934613T>G, NC_000011.9:g.18956160T>C, NC_000011.9:g.18956160T>G, NM_147199.4:c.172A>G, NM_147199.4:c.172A>C, NM_147199.3:c.172A>G, NM_147199.3:c.172A>C, NM_001393578.1:c.172A>G, NM_001393578.1:c.172A>C, NP_671732.3:p.Arg58Gly, NP_001380507.1:p.Arg58Gly

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