SNP Links for Protein (Select 345842495) - SNP

Links from Protein

Items: 1 to 20 of 202

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Select item 14796348961.

rs1479634896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:50423663 (GRCh38)
19:50926920 (GRCh37)
Canonical SPDI:: NC_000019.10:50423662:A:T
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.50423663A>T, NC_000019.9:g.50926920A>T, NM_003121.5:c.398A>T, NM_003121.4:c.398A>T, NM_001243999.2:c.398A>T, NM_001243999.1:c.398A>T, NM_001244000.2:c.305A>T, NM_001244000.1:c.305A>T, NM_001243998.2:c.125A>T, NM_001243998.1:c.125A>T, NP_003112.2:p.Asp133Val, NP_001230928.1:p.Asp133Val, NP_001230929.2:p.Asp102Val, NP_001230927.1:p.Asp42Val

Select item 14735103572.

rs1473510357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50422853 (GRCh38)
19:50926110 (GRCh37)
Canonical SPDI:: NC_000019.10:50422852:C:T
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50422853C>T, NC_000019.9:g.50926110C>T, NM_003121.5:c.155C>T, NM_003121.4:c.155C>T, NM_001243999.2:c.155C>T, NM_001243999.1:c.155C>T, NM_001244000.2:c.97C>T, NM_001244000.1:c.97C>T, NP_003112.2:p.Pro52Leu, NP_001230928.1:p.Pro52Leu

Select item 14732108573.

rs1473210857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50423616 (GRCh38)
19:50926873 (GRCh37)
Canonical SPDI:: NC_000019.10:50423615:C:T
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50423616C>T, NC_000019.9:g.50926873C>T, NM_003121.5:c.351C>T, NM_003121.4:c.351C>T, NM_001243999.2:c.351C>T, NM_001243999.1:c.351C>T, NM_001243998.2:c.78C>T, NM_001243998.1:c.78C>T

Select item 14718781804.

rs1471878180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50422983 (GRCh38)
19:50926240 (GRCh37)
Canonical SPDI:: NC_000019.10:50422982:G:C
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50422983G>C, NC_000019.9:g.50926240G>C, NM_003121.5:c.285G>C, NM_003121.4:c.285G>C, NM_001243999.2:c.285G>C, NM_001243999.1:c.285G>C, NM_001244000.2:c.227G>C, NM_001244000.1:c.227G>C, NP_001230929.2:p.Trp76Ser

Select item 14674815815.

rs1467481581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:50423619 (GRCh38)
19:50926876 (GRCh37)
Canonical SPDI:: NC_000019.10:50423618:G:A,NC_000019.10:50423618:G:T
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50423619G>A, NC_000019.10:g.50423619G>T, NC_000019.9:g.50926876G>A, NC_000019.9:g.50926876G>T, NM_003121.5:c.354G>A, NM_003121.5:c.354G>T, NM_003121.4:c.354G>A, NM_003121.4:c.354G>T, NM_001243999.2:c.354G>A, NM_001243999.2:c.354G>T, NM_001243999.1:c.354G>A, NM_001243999.1:c.354G>T, NM_001243998.2:c.81G>A, NM_001243998.2:c.81G>T, NM_001243998.1:c.81G>A, NM_001243998.1:c.81G>T

Select item 14632034666.

rs1463203466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:50418985 (GRCh38)
19:50922242 (GRCh37)
Canonical SPDI:: NC_000019.10:50418984:A:G
Gene:: SPIB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.50418985A>G, NC_000019.9:g.50922242A>G, NG_033800.1:g.39663A>G, NM_003121.5:c.23A>G, NM_003121.4:c.23A>G, NM_001243999.2:c.23A>G, NM_001243999.1:c.23A>G, NM_001244000.2:c.-36A>G, NM_001244000.1:c.-36A>G, NM_001243998.2:c.-36A>G, NM_001243998.1:c.-36A>G, NP_003112.2:p.Gln8Arg, NP_001230928.1:p.Gln8Arg

Select item 14626827077.

rs1462682707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50428039 (GRCh38)
19:50931296 (GRCh37)
Canonical SPDI:: NC_000019.10:50428038:G:C
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_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_000019.10:g.50428039G>C, NC_000019.9:g.50931296G>C, NG_028026.1:g.137G>C, NM_003121.5:c.492G>C, NM_003121.4:c.492G>C, NM_001243999.2:c.488G>C, NM_001243999.1:c.488G>C, NM_001244000.2:c.399G>C, NM_001244000.1:c.399G>C, NM_001243998.2:c.219G>C, NM_001243998.1:c.219G>C, NP_001230928.1:p.Gly163Ala

Select item 14533459918.

rs1453345991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:50422911 (GRCh38)
19:50926168 (GRCh37)
Canonical SPDI:: NC_000019.10:50422910:C:G,NC_000019.10:50422910:C:T
Gene:: SPIB (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50422911C>G, NC_000019.10:g.50422911C>T, NC_000019.9:g.50926168C>G, NC_000019.9:g.50926168C>T, NM_003121.5:c.213C>G, NM_003121.5:c.213C>T, NM_003121.4:c.213C>G, NM_003121.4:c.213C>T, NM_001243999.2:c.213C>G, NM_001243999.2:c.213C>T, NM_001243999.1:c.213C>G, NM_001243999.1:c.213C>T, NM_001244000.2:c.155C>G, NM_001244000.2:c.155C>T, NM_001244000.1:c.155C>G, NM_001244000.1:c.155C>T, NP_001230929.2:p.Pro52Arg, NP_001230929.2:p.Pro52Leu

Select item 14519940319.

rs1451994031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:50423030 (GRCh38)
19:50926287 (GRCh37)
Canonical SPDI:: NC_000019.10:50423029:C:A
Gene:: SPIB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.50423030C>A, NC_000019.9:g.50926287C>A, NM_003121.5:c.332C>A, NM_003121.4:c.332C>A, NM_001243999.2:c.332C>A, NM_001243999.1:c.332C>A, NM_001244000.2:c.274C>A, NM_001244000.1:c.274C>A, NP_003112.2:p.Ala111Asp, NP_001230928.1:p.Ala111Asp, NP_001230929.2:p.Leu92Ile

Select item 144023772410.

rs1440237724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:50422973 (GRCh38)
19:50926230 (GRCh37)
Canonical SPDI:: NC_000019.10:50422972:C:A,NC_000019.10:50422972:C:T
Gene:: SPIB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000019.10:g.50422973C>A, NC_000019.10:g.50422973C>T, NC_000019.9:g.50926230C>A, NC_000019.9:g.50926230C>T, NM_003121.5:c.275C>A, NM_003121.5:c.275C>T, NM_003121.4:c.275C>A, NM_003121.4:c.275C>T, NM_001243999.2:c.275C>A, NM_001243999.2:c.275C>T, NM_001243999.1:c.275C>A, NM_001243999.1:c.275C>T, NM_001244000.2:c.217C>A, NM_001244000.2:c.217C>T, NM_001244000.1:c.217C>A, NM_001244000.1:c.217C>T, NP_003112.2:p.Ala92Asp, NP_003112.2:p.Ala92Val, NP_001230928.1:p.Ala92Asp, NP_001230928.1:p.Ala92Val, NP_001230929.2:p.Pro73Thr, NP_001230929.2:p.Pro73Ser

Select item 143843009911.

rs1438430099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50428072 (GRCh38)
19:50931329 (GRCh37)
Canonical SPDI:: NC_000019.10:50428071:G:C
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.50428072G>C, NC_000019.9:g.50931329G>C, NG_028026.1:g.170G>C, NM_003121.5:c.525G>C, NM_003121.4:c.525G>C, NM_001243999.2:c.521G>C, NM_001243999.1:c.521G>C, NM_001244000.2:c.432G>C, NM_001244000.1:c.432G>C, NM_001243998.2:c.252G>C, NM_001243998.1:c.252G>C, NP_001230928.1:p.Cys174Ser

Select item 143672524312.

rs1436725243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50422533 (GRCh38)
19:50925790 (GRCh37)
Canonical SPDI:: NC_000019.10:50422532:G:C
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50422533G>C, NC_000019.9:g.50925790G>C, NM_003121.5:c.112G>C, NM_003121.4:c.112G>C, NM_001243999.2:c.112G>C, NM_001243999.1:c.112G>C, NM_001244000.2:c.54G>C, NM_001244000.1:c.54G>C, NM_001243998.2:c.54G>C, NM_001243998.1:c.54G>C, NP_003112.2:p.Glu38Gln, NP_001230928.1:p.Glu38Gln, NP_001230929.2:p.Gln18His, NP_001230927.1:p.Gln18His

Select item 143383859413.

rs1433838594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50418972 (GRCh38)
19:50922229 (GRCh37)
Canonical SPDI:: NC_000019.10:50418971:C:T
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.50418972C>T, NC_000019.9:g.50922229C>T, NG_033800.1:g.39650C>T, NM_003121.5:c.10C>T, NM_003121.4:c.10C>T, NM_001243999.2:c.10C>T, NM_001243999.1:c.10C>T, NM_001244000.2:c.-49C>T, NM_001244000.1:c.-49C>T, NM_001243998.2:c.-49C>T, NM_001243998.1:c.-49C>T

Select item 143296101714.

rs1432961017 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 19:50423001 (GRCh38)
19:50926259 (GRCh37)
Canonical SPDI:: NC_000019.10:50423001:CTC:CTCTC
Gene:: SPIB (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50423003_50423004dup, NC_000019.9:g.50926260_50926261dup, NM_003121.5:c.305_306dup, NM_003121.4:c.305_306dup, NM_001243999.2:c.305_306dup, NM_001243999.1:c.305_306dup, NM_001244000.2:c.247_248dup, NM_001244000.1:c.247_248dup, NP_003112.2:p.Pro103fs, NP_001230928.1:p.Pro103fs, NP_001230929.2:p.Leu84fs

Select item 143292698815.

rs1432926988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50428058 (GRCh38)
19:50931315 (GRCh37)
Canonical SPDI:: NC_000019.10:50428057:C:T
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50428058C>T, NC_000019.9:g.50931315C>T, NG_028026.1:g.156C>T, NM_003121.5:c.511C>T, NM_003121.4:c.511C>T, NM_001243999.2:c.507C>T, NM_001243999.1:c.507C>T, NM_001244000.2:c.418C>T, NM_001244000.1:c.418C>T, NM_001243998.2:c.238C>T, NM_001243998.1:c.238C>T

Select item 142634074016.

rs1426340740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50428060 (GRCh38)
19:50931317 (GRCh37)
Canonical SPDI:: NC_000019.10:50428059:G:A
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_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_000019.10:g.50428060G>A, NC_000019.9:g.50931317G>A, NG_028026.1:g.158G>A, NM_003121.5:c.513G>A, NM_003121.4:c.513G>A, NM_001243999.2:c.509G>A, NM_001243999.1:c.509G>A, NM_001244000.2:c.420G>A, NM_001244000.1:c.420G>A, NM_001243998.2:c.240G>A, NM_001243998.1:c.240G>A, NP_001230928.1:p.Cys170Tyr

Select item 142292303317.

rs1422923033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:50422997 (GRCh38)
19:50926254 (GRCh37)
Canonical SPDI:: NC_000019.10:50422996:C:A
Gene:: SPIB (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.50422997C>A, NC_000019.9:g.50926254C>A, NM_003121.5:c.299C>A, NM_003121.4:c.299C>A, NM_001243999.2:c.299C>A, NM_001243999.1:c.299C>A, NM_001244000.2:c.241C>A, NM_001244000.1:c.241C>A, NP_003112.2:p.Pro100His, NP_001230928.1:p.Pro100His, NP_001230929.2:p.Leu81Met

Select item 142162458918.

rs1421624589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50422865 (GRCh38)
19:50926122 (GRCh37)
Canonical SPDI:: NC_000019.10:50422864:C:T
Gene:: SPIB (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50422865C>T, NC_000019.9:g.50926122C>T, NM_003121.5:c.167C>T, NM_003121.4:c.167C>T, NM_001243999.2:c.167C>T, NM_001243999.1:c.167C>T, NM_001244000.2:c.109C>T, NM_001244000.1:c.109C>T, NP_003112.2:p.Thr56Ile, NP_001230928.1:p.Thr56Ile, NP_001230929.2:p.Pro37Ser

Select item 142024197519.

rs1420241975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50422824 (GRCh38)
19:50926081 (GRCh37)
Canonical SPDI:: NC_000019.10:50422823:C:T
Gene:: SPIB (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50422824C>T, NC_000019.9:g.50926081C>T, NM_003121.5:c.126C>T, NM_003121.4:c.126C>T, NM_001243999.2:c.126C>T, NM_001243999.1:c.126C>T, NM_001244000.2:c.68C>T, NM_001244000.1:c.68C>T, NP_001230929.2:p.Thr23Ile

Select item 141264136820.

rs1412641368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50422863 (GRCh38)
19:50926120 (GRCh37)
Canonical SPDI:: NC_000019.10:50422862:C:T
Gene:: SPIB (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50422863C>T, NC_000019.9:g.50926120C>T, NM_003121.5:c.165C>T, NM_003121.4:c.165C>T, NM_001243999.2:c.165C>T, NM_001243999.1:c.165C>T, NM_001244000.2:c.107C>T, NM_001244000.1:c.107C>T, NP_001230929.2:p.Pro36Leu

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