SNP Links for Protein (Select 345842493) - SNP

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Links from Protein

Items: 1 to 20 of 168

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Select item 14844479001.

rs1484447900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50428196 (GRCh38)
19:50931453 (GRCh37)
Canonical SPDI:: NC_000019.10:50428195:G:A
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50428196G>A, NC_000019.9:g.50931453G>A, NG_028026.1:g.294G>A, NM_003121.5:c.649G>A, NM_003121.4:c.649G>A, NM_001243999.2:c.*111G>A, NM_001243999.1:c.*111G>A, NM_001244000.2:c.556G>A, NM_001244000.1:c.556G>A, NM_001243998.2:c.376G>A, NM_001243998.1:c.376G>A, NP_003112.2:p.Gly217Arg, NP_001230929.2:p.Gly186Arg, NP_001230927.1:p.Gly126Arg

Select item 14839337402.

rs1483933740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:50428132 (GRCh38)
19:50931389 (GRCh37)
Canonical SPDI:: NC_000019.10:50428131:C:A,NC_000019.10:50428131:C:T
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50428132C>A, NC_000019.10:g.50428132C>T, NC_000019.9:g.50931389C>A, NC_000019.9:g.50931389C>T, NG_028026.1:g.230C>A, NG_028026.1:g.230C>T, NM_003121.5:c.585C>A, NM_003121.5:c.585C>T, NM_003121.4:c.585C>A, NM_003121.4:c.585C>T, NM_001243999.2:c.*47C>A, NM_001243999.2:c.*47C>T, NM_001243999.1:c.*47C>A, NM_001243999.1:c.*47C>T, NM_001244000.2:c.492C>A, NM_001244000.2:c.492C>T, NM_001244000.1:c.492C>A, NM_001244000.1:c.492C>T, NM_001243998.2:c.312C>A, NM_001243998.2:c.312C>T, NM_001243998.1:c.312C>A, NM_001243998.1:c.312C>T

Select item 14806835533.

rs1480683553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50428086 (GRCh38)
19:50931343 (GRCh37)
Canonical SPDI:: NC_000019.10:50428085:C:T
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_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.50428086C>T, NC_000019.9:g.50931343C>T, NG_028026.1:g.184C>T, NM_003121.5:c.539C>T, NM_003121.4:c.539C>T, NM_001243999.2:c.*1C>T, NM_001243999.1:c.*1C>T, NM_001244000.2:c.446C>T, NM_001244000.1:c.446C>T, NM_001243998.2:c.266C>T, NM_001243998.1:c.266C>T, NP_003112.2:p.Thr180Met, NP_001230929.2:p.Thr149Met, NP_001230927.1:p.Thr89Met

Select item 14796348964.

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 14783512355.

rs1478351235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:50428295 (GRCh38)
19:50931552 (GRCh37)
Canonical SPDI:: NC_000019.10:50428294:C:A
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50428295C>A, NC_000019.9:g.50931552C>A, NG_028026.1:g.393C>A, NM_003121.5:c.748C>A, NM_003121.4:c.748C>A, NM_001243999.2:c.*210C>A, NM_001243999.1:c.*210C>A, NM_001244000.2:c.655C>A, NM_001244000.1:c.655C>A, NM_001243998.2:c.475C>A, NM_001243998.1:c.475C>A, NP_003112.2:p.Gln250Lys, NP_001230929.2:p.Gln219Lys, NP_001230927.1:p.Gln159Lys

Select item 14749494556.

rs1474949455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50428204 (GRCh38)
19:50931461 (GRCh37)
Canonical SPDI:: NC_000019.10:50428203:C:T
Gene:: SPIB (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50428204C>T, NC_000019.9:g.50931461C>T, NG_028026.1:g.302C>T, NM_003121.5:c.657C>T, NM_003121.4:c.657C>T, NM_001243999.2:c.*119C>T, NM_001243999.1:c.*119C>T, NM_001244000.2:c.564C>T, NM_001244000.1:c.564C>T, NM_001243998.2:c.384C>T, NM_001243998.1:c.384C>T

Select item 14732108577.

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 14674815818.

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 14626827079.

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 145026355710.

rs1450263557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50428163 (GRCh38)
19:50931420 (GRCh37)
Canonical SPDI:: NC_000019.10:50428162:G:A
Gene:: SPIB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.50428163G>A, NC_000019.9:g.50931420G>A, NG_028026.1:g.261G>A, NM_003121.5:c.616G>A, NM_003121.4:c.616G>A, NM_001243999.2:c.*78G>A, NM_001243999.1:c.*78G>A, NM_001244000.2:c.523G>A, NM_001244000.1:c.523G>A, NM_001243998.2:c.343G>A, NM_001243998.1:c.343G>A, NP_003112.2:p.Glu206Lys, NP_001230929.2:p.Glu175Lys, NP_001230927.1:p.Glu115Lys

Select item 144624683811.

rs1446246838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50428291 (GRCh38)
19:50931548 (GRCh37)
Canonical SPDI:: NC_000019.10:50428290:C:T
Gene:: SPIB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.50428291C>T, NC_000019.9:g.50931548C>T, NG_028026.1:g.389C>T, NM_003121.5:c.744C>T, NM_003121.4:c.744C>T, NM_001243999.2:c.*206C>T, NM_001243999.1:c.*206C>T, NM_001244000.2:c.651C>T, NM_001244000.1:c.651C>T, NM_001243998.2:c.471C>T, NM_001243998.1:c.471C>T

Select item 144055265212.

rs1440552652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50428195 (GRCh38)
19:50931452 (GRCh37)
Canonical SPDI:: NC_000019.10:50428194:G:A
Gene:: SPIB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50428195G>A, NC_000019.9:g.50931452G>A, NG_028026.1:g.293G>A, NM_003121.5:c.648G>A, NM_003121.4:c.648G>A, NM_001243999.2:c.*110G>A, NM_001243999.1:c.*110G>A, NM_001244000.2:c.555G>A, NM_001244000.1:c.555G>A, NM_001243998.2:c.375G>A, NM_001243998.1:c.375G>A

Select item 143843009913.

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 143672524314.

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 143315677815.

rs1433156778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50428232 (GRCh38)
19:50931489 (GRCh37)
Canonical SPDI:: NC_000019.10:50428231:C:T
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50428232C>T, NC_000019.9:g.50931489C>T, NG_028026.1:g.330C>T, NM_003121.5:c.685C>T, NM_003121.4:c.685C>T, NM_001243999.2:c.*147C>T, NM_001243999.1:c.*147C>T, NM_001244000.2:c.592C>T, NM_001244000.1:c.592C>T, NM_001243998.2:c.412C>T, NM_001243998.1:c.412C>T, NP_003112.2:p.Arg229Cys, NP_001230929.2:p.Arg198Cys, NP_001230927.1:p.Arg138Cys

Select item 143292698816.

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 143040806417.

rs1430408064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50428251 (GRCh38)
19:50931508 (GRCh37)
Canonical SPDI:: NC_000019.10:50428250:C:T
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50428251C>T, NC_000019.9:g.50931508C>T, NG_028026.1:g.349C>T, NM_003121.5:c.704C>T, NM_003121.4:c.704C>T, NM_001243999.2:c.*166C>T, NM_001243999.1:c.*166C>T, NM_001244000.2:c.611C>T, NM_001244000.1:c.611C>T, NM_001243998.2:c.431C>T, NM_001243998.1:c.431C>T, NP_003112.2:p.Ala235Val, NP_001230929.2:p.Ala204Val, NP_001230927.1:p.Ala144Val

Select item 142634074018.

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 141332309319.

rs1413323093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:50428175 (GRCh38)
19:50931432 (GRCh37)
Canonical SPDI:: NC_000019.10:50428174:C:A,NC_000019.10:50428174:C:T
Gene:: SPIB (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50428175C>A, NC_000019.10:g.50428175C>T, NC_000019.9:g.50931432C>A, NC_000019.9:g.50931432C>T, NG_028026.1:g.273C>A, NG_028026.1:g.273C>T, NM_003121.5:c.628C>A, NM_003121.5:c.628C>T, NM_003121.4:c.628C>A, NM_003121.4:c.628C>T, NM_001243999.2:c.*90C>A, NM_001243999.2:c.*90C>T, NM_001243999.1:c.*90C>A, NM_001243999.1:c.*90C>T, NM_001244000.2:c.535C>A, NM_001244000.2:c.535C>T, NM_001244000.1:c.535C>A, NM_001244000.1:c.535C>T, NM_001243998.2:c.355C>A, NM_001243998.2:c.355C>T, NM_001243998.1:c.355C>A, NM_001243998.1:c.355C>T, NP_003112.2:p.Arg210Ser, NP_003112.2:p.Arg210Cys, NP_001230929.2:p.Arg179Ser, NP_001230929.2:p.Arg179Cys, NP_001230927.1:p.Arg119Ser, NP_001230927.1:p.Arg119Cys

Select item 140937807420.

rs1409378074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:50428151 (GRCh38)
19:50931408 (GRCh37)
Canonical SPDI:: NC_000019.10:50428150:T:C
Gene:: SPIB (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50428151T>C, NC_000019.9:g.50931408T>C, NG_028026.1:g.249T>C, NM_003121.5:c.604T>C, NM_003121.4:c.604T>C, NM_001243999.2:c.*66T>C, NM_001243999.1:c.*66T>C, NM_001244000.2:c.511T>C, NM_001244000.1:c.511T>C, NM_001243998.2:c.331T>C, NM_001243998.1:c.331T>C, NP_003112.2:p.Ser202Pro, NP_001230929.2:p.Ser171Pro, NP_001230927.1:p.Ser111Pro

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