SNP Links for Protein (Select 194473668) - SNP

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Links from Protein

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Select item 14908655841.

rs1490865584 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 22:37024265 (GRCh38)
22:37420306 (GRCh37)
Canonical SPDI:: NC_000022.11:37024264:C:
Gene:: MPST (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37024265del, NC_000022.10:g.37420306del, NG_027994.1:g.186del, NM_021126.8:c.110del, NM_021126.7:c.110del, NM_021126.6:c.110del, NM_021126.5:c.110del, NM_001130517.4:c.50del, NM_001130517.3:c.50del, NM_001130517.2:c.50del, NM_001013436.4:c.50del, NM_001013436.3:c.50del, NM_001013436.2:c.50del, NM_001369904.2:c.50del, NM_001369904.1:c.50del, NM_001369905.2:c.110del, NM_001369905.1:c.110del, NR_024038.1:n.462del, NM_001013440.1:c.50del, XM_047441376.1:c.110del, XM_047441377.1:c.50del, NP_066949.2:p.Ala37fs, NP_001123989.1:p.Ala17fs, NP_001013454.1:p.Ala17fs, NP_001356833.1:p.Ala17fs, NP_001356834.1:p.Ala37fs, XP_047297332.1:p.Ala37fs, XP_047297333.1:p.Ala17fs

Select item 14900537342.

rs1490053734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:37024586 (GRCh38)
22:37420627 (GRCh37)
Canonical SPDI:: NC_000022.11:37024585:C:G,NC_000022.11:37024585:C:T
Gene:: MPST (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.37024586C>G, NC_000022.11:g.37024586C>T, NC_000022.10:g.37420627C>G, NC_000022.10:g.37420627C>T, NM_021126.8:c.431C>G, NM_021126.8:c.431C>T, NM_021126.7:c.431C>G, NM_021126.7:c.431C>T, NM_021126.6:c.431C>G, NM_021126.6:c.431C>T, NM_021126.5:c.431C>G, NM_021126.5:c.431C>T, NM_001130517.4:c.371C>G, NM_001130517.4:c.371C>T, NM_001130517.3:c.371C>G, NM_001130517.3:c.371C>T, NM_001130517.2:c.371C>G, NM_001130517.2:c.371C>T, NM_001013436.4:c.371C>G, NM_001013436.4:c.371C>T, NM_001013436.3:c.371C>G, NM_001013436.3:c.371C>T, NM_001013436.2:c.371C>G, NM_001013436.2:c.371C>T, NM_001369904.2:c.371C>G, NM_001369904.2:c.371C>T, NM_001369904.1:c.371C>G, NM_001369904.1:c.371C>T, NM_001369905.2:c.431C>G, NM_001369905.2:c.431C>T, NM_001369905.1:c.431C>G, NM_001369905.1:c.431C>T, NR_024038.1:n.783C>G, NR_024038.1:n.783C>T, NM_001013440.1:c.371C>G, NM_001013440.1:c.371C>T, XM_047441376.1:c.431C>G, XM_047441376.1:c.431C>T, XM_047441377.1:c.371C>G, XM_047441377.1:c.371C>T, NP_066949.2:p.Ala144Gly, NP_066949.2:p.Ala144Val, NP_001123989.1:p.Ala124Gly, NP_001123989.1:p.Ala124Val, NP_001013454.1:p.Ala124Gly, NP_001013454.1:p.Ala124Val, NP_001356833.1:p.Ala124Gly, NP_001356833.1:p.Ala124Val, NP_001356834.1:p.Ala144Gly, NP_001356834.1:p.Ala144Val, XP_047297332.1:p.Ala144Gly, XP_047297332.1:p.Ala144Val, XP_047297333.1:p.Ala124Gly, XP_047297333.1:p.Ala124Val

Select item 14898898593.

rs1489889859 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:37024803 (GRCh38)
22:37420845 (GRCh37)
Canonical SPDI:: NC_000022.11:37024803::A
Gene:: MPST (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: A=0.0003/3 (ALFA)
HGVS:: NC_000022.11:g.37024803_37024804insA, NC_000022.10:g.37420844_37420845insA, NM_021126.8:c.648_649insA, NM_021126.7:c.648_649insA, NM_021126.6:c.648_649insA, NM_021126.5:c.648_649insA, NM_001130517.4:c.588_589insA, NM_001130517.3:c.588_589insA, NM_001130517.2:c.588_589insA, NM_001013436.4:c.588_589insA, NM_001013436.3:c.588_589insA, NM_001013436.2:c.588_589insA, NM_001369904.2:c.588_589insA, NM_001369904.1:c.588_589insA, NM_001369905.2:c.648_649insA, NM_001369905.1:c.648_649insA, NR_024038.1:n.1000_1001insA, NM_001013440.1:c.588_589insA, XM_047441376.1:c.648_649insA, XM_047441377.1:c.588_589insA, NP_066949.2:p.Arg217fs, NP_001123989.1:p.Arg197fs, NP_001013454.1:p.Arg197fs, NP_001356833.1:p.Arg197fs, NP_001356834.1:p.Arg217fs, XP_047297332.1:p.Arg217fs, XP_047297333.1:p.Arg197fs

Select item 14813049664.

rs1481304966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37029425 (GRCh38)
22:37425466 (GRCh37)
Canonical SPDI:: NC_000022.11:37029424:G:A
Gene:: MPST (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37029425G>A, NC_000022.10:g.37425466G>A, NM_021126.8:c.865G>A, NM_021126.7:c.865G>A, NM_021126.6:c.865G>A, NM_021126.5:c.865G>A, NM_001130517.4:c.805G>A, NM_001130517.3:c.805G>A, NM_001130517.2:c.805G>A, NM_001013436.4:c.805G>A, NM_001013436.3:c.805G>A, NM_001013436.2:c.805G>A, NM_001369904.2:c.805G>A, NM_001369904.1:c.805G>A, NM_001369905.2:c.*248G>A, NM_001369905.1:c.*248G>A, NR_024038.1:n.1217G>A, NM_001013440.1:c.805G>A, NP_066949.2:p.Val289Met, NP_001123989.1:p.Val269Met, NP_001013454.1:p.Val269Met, NP_001356833.1:p.Val269Met

Select item 14798095955.

rs1479809595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:37024547 (GRCh38)
22:37420588 (GRCh37)
Canonical SPDI:: NC_000022.11:37024546:C:G,NC_000022.11:37024546:C:T
Gene:: MPST (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000022.11:g.37024547C>G, NC_000022.11:g.37024547C>T, NC_000022.10:g.37420588C>G, NC_000022.10:g.37420588C>T, NM_021126.8:c.392C>G, NM_021126.8:c.392C>T, NM_021126.7:c.392C>G, NM_021126.7:c.392C>T, NM_021126.6:c.392C>G, NM_021126.6:c.392C>T, NM_021126.5:c.392C>G, NM_021126.5:c.392C>T, NM_001130517.4:c.332C>G, NM_001130517.4:c.332C>T, NM_001130517.3:c.332C>G, NM_001130517.3:c.332C>T, NM_001130517.2:c.332C>G, NM_001130517.2:c.332C>T, NM_001013436.4:c.332C>G, NM_001013436.4:c.332C>T, NM_001013436.3:c.332C>G, NM_001013436.3:c.332C>T, NM_001013436.2:c.332C>G, NM_001013436.2:c.332C>T, NM_001369904.2:c.332C>G, NM_001369904.2:c.332C>T, NM_001369904.1:c.332C>G, NM_001369904.1:c.332C>T, NM_001369905.2:c.392C>G, NM_001369905.2:c.392C>T, NM_001369905.1:c.392C>G, NM_001369905.1:c.392C>T, NR_024038.1:n.744C>G, NR_024038.1:n.744C>T, NM_001013440.1:c.332C>G, NM_001013440.1:c.332C>T, XM_047441376.1:c.392C>G, XM_047441376.1:c.392C>T, XM_047441377.1:c.332C>G, XM_047441377.1:c.332C>T, NP_066949.2:p.Pro131Arg, NP_066949.2:p.Pro131Leu, NP_001123989.1:p.Pro111Arg, NP_001123989.1:p.Pro111Leu, NP_001013454.1:p.Pro111Arg, NP_001013454.1:p.Pro111Leu, NP_001356833.1:p.Pro111Arg, NP_001356833.1:p.Pro111Leu, NP_001356834.1:p.Pro131Arg, NP_001356834.1:p.Pro131Leu, XP_047297332.1:p.Pro131Arg, XP_047297332.1:p.Pro131Leu, XP_047297333.1:p.Pro111Arg, XP_047297333.1:p.Pro111Leu

Select item 14788314746.

rs1478831474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37024337 (GRCh38)
22:37420378 (GRCh37)
Canonical SPDI:: NC_000022.11:37024336:T:C
Gene:: MPST (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37024337T>C, NC_000022.10:g.37420378T>C, NG_027994.1:g.114A>G, NM_021126.8:c.182T>C, NM_021126.7:c.182T>C, NM_021126.6:c.182T>C, NM_021126.5:c.182T>C, NM_001130517.4:c.122T>C, NM_001130517.3:c.122T>C, NM_001130517.2:c.122T>C, NM_001013436.4:c.122T>C, NM_001013436.3:c.122T>C, NM_001013436.2:c.122T>C, NM_001369904.2:c.122T>C, NM_001369904.1:c.122T>C, NM_001369905.2:c.182T>C, NM_001369905.1:c.182T>C, NR_024038.1:n.534T>C, NM_001013440.1:c.122T>C, XM_047441376.1:c.182T>C, XM_047441377.1:c.122T>C, NP_066949.2:p.Leu61Pro, NP_001123989.1:p.Leu41Pro, NP_001013454.1:p.Leu41Pro, NP_001356833.1:p.Leu41Pro, NP_001356834.1:p.Leu61Pro, XP_047297332.1:p.Leu61Pro, XP_047297333.1:p.Leu41Pro

Select item 14742572167.

rs1474257216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37024589 (GRCh38)
22:37420630 (GRCh37)
Canonical SPDI:: NC_000022.11:37024588:T:C
Gene:: MPST (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.37024589T>C, NC_000022.10:g.37420630T>C, NM_021126.8:c.434T>C, NM_021126.7:c.434T>C, NM_021126.6:c.434T>C, NM_021126.5:c.434T>C, NM_001130517.4:c.374T>C, NM_001130517.3:c.374T>C, NM_001130517.2:c.374T>C, NM_001013436.4:c.374T>C, NM_001013436.3:c.374T>C, NM_001013436.2:c.374T>C, NM_001369904.2:c.374T>C, NM_001369904.1:c.374T>C, NM_001369905.2:c.434T>C, NM_001369905.1:c.434T>C, NR_024038.1:n.786T>C, NM_001013440.1:c.374T>C, XM_047441376.1:c.434T>C, XM_047441377.1:c.374T>C, NP_066949.2:p.Val145Ala, NP_001123989.1:p.Val125Ala, NP_001013454.1:p.Val125Ala, NP_001356833.1:p.Val125Ala, NP_001356834.1:p.Val145Ala, XP_047297332.1:p.Val145Ala, XP_047297333.1:p.Val125Ala

Select item 14722761228.

rs1472276122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37029414 (GRCh38)
22:37425455 (GRCh37)
Canonical SPDI:: NC_000022.11:37029413:G:A
Gene:: MPST (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000022.11:g.37029414G>A, NC_000022.10:g.37425455G>A, NM_021126.8:c.854G>A, NM_021126.7:c.854G>A, NM_021126.6:c.854G>A, NM_021126.5:c.854G>A, NM_001130517.4:c.794G>A, NM_001130517.3:c.794G>A, NM_001130517.2:c.794G>A, NM_001013436.4:c.794G>A, NM_001013436.3:c.794G>A, NM_001013436.2:c.794G>A, NM_001369904.2:c.794G>A, NM_001369904.1:c.794G>A, NM_001369905.2:c.*237G>A, NM_001369905.1:c.*237G>A, NR_024038.1:n.1206G>A, NM_001013440.1:c.794G>A, NP_066949.2:p.Gly285Asp, NP_001123989.1:p.Gly265Asp, NP_001013454.1:p.Gly265Asp, NP_001356833.1:p.Gly265Asp

Select item 14674335619.

rs1467433561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37024281 (GRCh38)
22:37420322 (GRCh37)
Canonical SPDI:: NC_000022.11:37024280:C:T
Gene:: MPST (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.37024281C>T, NC_000022.10:g.37420322C>T, NG_027994.1:g.170G>A, NM_021126.8:c.126C>T, NM_021126.7:c.126C>T, NM_021126.6:c.126C>T, NM_021126.5:c.126C>T, NM_001130517.4:c.66C>T, NM_001130517.3:c.66C>T, NM_001130517.2:c.66C>T, NM_001013436.4:c.66C>T, NM_001013436.3:c.66C>T, NM_001013436.2:c.66C>T, NM_001369904.2:c.66C>T, NM_001369904.1:c.66C>T, NM_001369905.2:c.126C>T, NM_001369905.1:c.126C>T, NR_024038.1:n.478C>T, NM_001013440.1:c.66C>T, XM_047441376.1:c.126C>T, XM_047441377.1:c.66C>T

Select item 146590332610.

rs1465903326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37024701 (GRCh38)
22:37420742 (GRCh37)
Canonical SPDI:: NC_000022.11:37024700:C:T
Gene:: MPST (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.37024701C>T, NC_000022.10:g.37420742C>T, NM_021126.8:c.546C>T, NM_021126.7:c.546C>T, NM_021126.6:c.546C>T, NM_021126.5:c.546C>T, NM_001130517.4:c.486C>T, NM_001130517.3:c.486C>T, NM_001130517.2:c.486C>T, NM_001013436.4:c.486C>T, NM_001013436.3:c.486C>T, NM_001013436.2:c.486C>T, NM_001369904.2:c.486C>T, NM_001369904.1:c.486C>T, NM_001369905.2:c.546C>T, NM_001369905.1:c.546C>T, NR_024038.1:n.898C>T, NM_001013440.1:c.486C>T, XM_047441376.1:c.546C>T, XM_047441377.1:c.486C>T

Select item 145995949811.

rs1459959498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37024561 (GRCh38)
22:37420602 (GRCh37)
Canonical SPDI:: NC_000022.11:37024560:A:G
Gene:: MPST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37024561A>G, NC_000022.10:g.37420602A>G, NM_021126.8:c.406A>G, NM_021126.7:c.406A>G, NM_021126.6:c.406A>G, NM_021126.5:c.406A>G, NM_001130517.4:c.346A>G, NM_001130517.3:c.346A>G, NM_001130517.2:c.346A>G, NM_001013436.4:c.346A>G, NM_001013436.3:c.346A>G, NM_001013436.2:c.346A>G, NM_001369904.2:c.346A>G, NM_001369904.1:c.346A>G, NM_001369905.2:c.406A>G, NM_001369905.1:c.406A>G, NR_024038.1:n.758A>G, NM_001013440.1:c.346A>G, XM_047441376.1:c.406A>G, XM_047441377.1:c.346A>G, NP_066949.2:p.Met136Val, NP_001123989.1:p.Met116Val, NP_001013454.1:p.Met116Val, NP_001356833.1:p.Met116Val, NP_001356834.1:p.Met136Val, XP_047297332.1:p.Met136Val, XP_047297333.1:p.Met116Val

Select item 145984058712.

rs1459840587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:37024443 (GRCh38)
22:37420484 (GRCh37)
Canonical SPDI:: NC_000022.11:37024442:G:A,NC_000022.11:37024442:G:T
Gene:: MPST (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.00002/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.37024443G>A, NC_000022.11:g.37024443G>T, NC_000022.10:g.37420484G>A, NC_000022.10:g.37420484G>T, NG_027994.1:g.8C>T, NG_027994.1:g.8C>A, NM_021126.8:c.288G>A, NM_021126.8:c.288G>T, NM_021126.7:c.288G>A, NM_021126.7:c.288G>T, NM_021126.6:c.288G>A, NM_021126.6:c.288G>T, NM_021126.5:c.288G>A, NM_021126.5:c.288G>T, NM_001130517.4:c.228G>A, NM_001130517.4:c.228G>T, NM_001130517.3:c.228G>A, NM_001130517.3:c.228G>T, NM_001130517.2:c.228G>A, NM_001130517.2:c.228G>T, NM_001013436.4:c.228G>A, NM_001013436.4:c.228G>T, NM_001013436.3:c.228G>A, NM_001013436.3:c.228G>T, NM_001013436.2:c.228G>A, NM_001013436.2:c.228G>T, NM_001369904.2:c.228G>A, NM_001369904.2:c.228G>T, NM_001369904.1:c.228G>A, NM_001369904.1:c.228G>T, NM_001369905.2:c.288G>A, NM_001369905.2:c.288G>T, NM_001369905.1:c.288G>A, NM_001369905.1:c.288G>T, NR_024038.1:n.640G>A, NR_024038.1:n.640G>T, NM_001013440.1:c.228G>A, NM_001013440.1:c.228G>T, XM_047441376.1:c.288G>A, XM_047441376.1:c.288G>T, XM_047441377.1:c.228G>A, XM_047441377.1:c.228G>T

Select item 145890306713.

rs1458903067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37024479 (GRCh38)
22:37420520 (GRCh37)
Canonical SPDI:: NC_000022.11:37024478:C:T
Gene:: MPST (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.37024479C>T, NC_000022.10:g.37420520C>T, NM_021126.8:c.324C>T, NM_021126.7:c.324C>T, NM_021126.6:c.324C>T, NM_021126.5:c.324C>T, NM_001130517.4:c.264C>T, NM_001130517.3:c.264C>T, NM_001130517.2:c.264C>T, NM_001013436.4:c.264C>T, NM_001013436.3:c.264C>T, NM_001013436.2:c.264C>T, NM_001369904.2:c.264C>T, NM_001369904.1:c.264C>T, NM_001369905.2:c.324C>T, NM_001369905.1:c.324C>T, NR_024038.1:n.676C>T, NM_001013440.1:c.264C>T, XM_047441376.1:c.324C>T, XM_047441377.1:c.264C>T

Select item 145455774014.

rs1454557740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37029259 (GRCh38)
22:37425300 (GRCh37)
Canonical SPDI:: NC_000022.11:37029258:C:T
Gene:: MPST (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.37029259C>T, NC_000022.10:g.37425300C>T, NM_021126.8:c.699C>T, NM_021126.7:c.699C>T, NM_021126.6:c.699C>T, NM_021126.5:c.699C>T, NM_001130517.4:c.639C>T, NM_001130517.3:c.639C>T, NM_001130517.2:c.639C>T, NM_001013436.4:c.639C>T, NM_001013436.3:c.639C>T, NM_001013436.2:c.639C>T, NM_001369904.2:c.639C>T, NM_001369904.1:c.639C>T, NM_001369905.2:c.*82C>T, NM_001369905.1:c.*82C>T, NR_024038.1:n.1051C>T, NM_001013440.1:c.639C>T

Select item 145032986515.

rs1450329865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:37024330 (GRCh38)
22:37420371 (GRCh37)
Canonical SPDI:: NC_000022.11:37024329:C:A
Gene:: MPST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37024330C>A, NC_000022.10:g.37420371C>A, NG_027994.1:g.121G>T, NM_021126.8:c.175C>A, NM_021126.7:c.175C>A, NM_021126.6:c.175C>A, NM_021126.5:c.175C>A, NM_001130517.4:c.115C>A, NM_001130517.3:c.115C>A, NM_001130517.2:c.115C>A, NM_001013436.4:c.115C>A, NM_001013436.3:c.115C>A, NM_001013436.2:c.115C>A, NM_001369904.2:c.115C>A, NM_001369904.1:c.115C>A, NM_001369905.2:c.175C>A, NM_001369905.1:c.175C>A, NR_024038.1:n.527C>A, NM_001013440.1:c.115C>A, XM_047441376.1:c.175C>A, XM_047441377.1:c.115C>A, NP_066949.2:p.Pro59Thr, NP_001123989.1:p.Pro39Thr, NP_001013454.1:p.Pro39Thr, NP_001356833.1:p.Pro39Thr, NP_001356834.1:p.Pro59Thr, XP_047297332.1:p.Pro59Thr, XP_047297333.1:p.Pro39Thr

Select item 145005338416.

rs1450053384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:37024196 (GRCh38)
22:37420237 (GRCh37)
Canonical SPDI:: NC_000022.11:37024195:G:C
Gene:: MPST (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.37024196G>C, NC_000022.10:g.37420237G>C, NG_027994.1:g.255C>G, NM_021126.8:c.41G>C, NM_021126.7:c.41G>C, NM_021126.6:c.41G>C, NM_021126.5:c.41G>C, NM_001130517.4:c.-20G>C, NM_001130517.3:c.-20G>C, NM_001130517.2:c.-20G>C, NM_001013436.4:c.-20G>C, NM_001013436.3:c.-20G>C, NM_001013436.2:c.-20G>C, NM_001369904.2:c.-20G>C, NM_001369904.1:c.-20G>C, NM_001369905.2:c.41G>C, NM_001369905.1:c.41G>C, NR_024038.1:n.393G>C, NM_001013440.1:c.-20G>C, XM_047441376.1:c.41G>C, XM_047441377.1:c.-20G>C, NP_066949.2:p.Arg14Pro, NP_001356834.1:p.Arg14Pro, XP_047297332.1:p.Arg14Pro

Select item 144992690417.

rs1449926904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37024514 (GRCh38)
22:37420555 (GRCh37)
Canonical SPDI:: NC_000022.11:37024513:A:G
Gene:: MPST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.37024514A>G, NC_000022.10:g.37420555A>G, NM_021126.8:c.359A>G, NM_021126.7:c.359A>G, NM_021126.6:c.359A>G, NM_021126.5:c.359A>G, NM_001130517.4:c.299A>G, NM_001130517.3:c.299A>G, NM_001130517.2:c.299A>G, NM_001013436.4:c.299A>G, NM_001013436.3:c.299A>G, NM_001013436.2:c.299A>G, NM_001369904.2:c.299A>G, NM_001369904.1:c.299A>G, NM_001369905.2:c.359A>G, NM_001369905.1:c.359A>G, NR_024038.1:n.711A>G, NM_001013440.1:c.299A>G, XM_047441376.1:c.359A>G, XM_047441377.1:c.299A>G, NP_066949.2:p.Tyr120Cys, NP_001123989.1:p.Tyr100Cys, NP_001013454.1:p.Tyr100Cys, NP_001356833.1:p.Tyr100Cys, NP_001356834.1:p.Tyr120Cys, XP_047297332.1:p.Tyr120Cys, XP_047297333.1:p.Tyr100Cys

Select item 144900845118.

rs1449008451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37019854 (GRCh38)
22:37415895 (GRCh37)
Canonical SPDI:: NC_000022.11:37019853:C:T
Gene:: MPST (Varview), TST (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,5_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_000022.11:g.37019854C>T, NC_000022.10:g.37415895C>T, NG_027994.1:g.4597G>A, NM_021126.8:c.18C>T, NM_021126.7:c.18C>T, NM_021126.6:c.18C>T, NM_021126.5:c.18C>T, NM_001369904.2:c.-219C>T, NM_001369904.1:c.-219C>T, NM_001369905.2:c.18C>T, NM_001369905.1:c.18C>T, NR_024038.1:n.194C>T, NM_001013440.1:c.-219C>T, XM_047441376.1:c.18C>T

Select item 144724861119.

rs1447248611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37024214 (GRCh38)
22:37420255 (GRCh37)
Canonical SPDI:: NC_000022.11:37024213:C:T
Gene:: MPST (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37024214C>T, NC_000022.10:g.37420255C>T, NG_027994.1:g.237G>A, NM_021126.8:c.59C>T, NM_021126.7:c.59C>T, NM_021126.6:c.59C>T, NM_021126.5:c.59C>T, NM_001130517.4:c.-2C>T, NM_001130517.3:c.-2C>T, NM_001130517.2:c.-2C>T, NM_001013436.4:c.-2C>T, NM_001013436.3:c.-2C>T, NM_001013436.2:c.-2C>T, NM_001369904.2:c.-2C>T, NM_001369904.1:c.-2C>T, NM_001369905.2:c.59C>T, NM_001369905.1:c.59C>T, NR_024038.1:n.411C>T, NM_001013440.1:c.-2C>T, XM_047441376.1:c.59C>T, XM_047441377.1:c.-2C>T, NP_066949.2:p.Ala20Val, NP_001356834.1:p.Ala20Val, XP_047297332.1:p.Ala20Val

Select item 144394499620.

rs1443944996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37024534 (GRCh38)
22:37420575 (GRCh37)
Canonical SPDI:: NC_000022.11:37024533:C:T
Gene:: MPST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.37024534C>T, NC_000022.10:g.37420575C>T, NM_021126.8:c.379C>T, NM_021126.7:c.379C>T, NM_021126.6:c.379C>T, NM_021126.5:c.379C>T, NM_001130517.4:c.319C>T, NM_001130517.3:c.319C>T, NM_001130517.2:c.319C>T, NM_001013436.4:c.319C>T, NM_001013436.3:c.319C>T, NM_001013436.2:c.319C>T, NM_001369904.2:c.319C>T, NM_001369904.1:c.319C>T, NM_001369905.2:c.379C>T, NM_001369905.1:c.379C>T, NR_024038.1:n.731C>T, NM_001013440.1:c.319C>T, XM_047441376.1:c.379C>T, XM_047441377.1:c.319C>T, NP_066949.2:p.Leu127Phe, NP_001123989.1:p.Leu107Phe, NP_001013454.1:p.Leu107Phe, NP_001356833.1:p.Leu107Phe, NP_001356834.1:p.Leu127Phe, XP_047297332.1:p.Leu127Phe, XP_047297333.1:p.Leu107Phe

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