SNP Links for Protein (Select 767905088) - SNP

Links from Protein

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Select item 14891097171.

rs1489109717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46195816 (GRCh38)
1:46661488 (GRCh37)
Canonical SPDI:: NC_000001.11:46195815:C:T
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.46195816C>T, NC_000001.10:g.46661488C>T, NG_009205.3:g.29490G>A, NM_017739.4:c.529G>A, NM_017739.3:c.529G>A, NM_001243766.2:c.529G>A, NM_001243766.1:c.529G>A, NM_001290129.2:c.463G>A, NM_001290129.1:c.463G>A, NM_001290130.2:c.100G>A, NM_001290130.1:c.100G>A, NM_001410783.1:c.529G>A, XM_011541760.4:c.463G>A, XM_011541760.3:c.463G>A, XM_011541760.2:c.463G>A, XM_011541760.1:c.463G>A, XM_017001690.2:c.529G>A, XM_017001690.1:c.529G>A, XM_006710756.2:c.529G>A, XM_006710756.1:c.529G>A, XM_006710755.2:c.529G>A, XM_006710755.1:c.529G>A, XM_005271010.2:c.529G>A, XM_005271010.1:c.529G>A, XM_047424511.1:c.529G>A, NR_024332.1:n.1180G>A, XM_047424497.1:c.529G>A, NP_060209.4:p.Val177Ile, NP_001230695.2:p.Val177Ile, NP_001277058.2:p.Val155Ile, NP_001277059.2:p.Val34Ile, XP_011540062.1:p.Val155Ile, XP_016857179.1:p.Val177Ile, XP_006710819.1:p.Val177Ile, XP_006710818.1:p.Val177Ile, XP_005271067.1:p.Val177Ile, XP_047280467.1:p.Val177Ile, XP_047280453.1:p.Val177Ile

Select item 14887209172.

rs1488720917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46197015 (GRCh38)
1:46662687 (GRCh37)
Canonical SPDI:: NC_000001.11:46197014:C:T
Gene:: POMGNT1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46197015C>T, NC_000001.10:g.46662687C>T, NG_009205.3:g.28291G>A, NM_017739.4:c.190G>A, NM_017739.3:c.190G>A, NM_001243766.2:c.190G>A, NM_001243766.1:c.190G>A, NM_001290129.2:c.124G>A, NM_001290129.1:c.124G>A, NM_001290130.2:c.-240G>A, NM_001290130.1:c.-240G>A, NM_001410783.1:c.190G>A, XM_011541760.4:c.124G>A, XM_011541760.3:c.124G>A, XM_011541760.2:c.124G>A, XM_011541760.1:c.124G>A, XM_017001690.2:c.190G>A, XM_017001690.1:c.190G>A, XM_006710756.2:c.190G>A, XM_006710756.1:c.190G>A, XM_006710755.2:c.190G>A, XM_006710755.1:c.190G>A, XM_005271010.2:c.190G>A, XM_005271010.1:c.190G>A, XM_047424511.1:c.190G>A, NR_024332.1:n.841G>A, XM_047424497.1:c.190G>A, NP_060209.4:p.Ala64Thr, NP_001230695.2:p.Ala64Thr, NP_001277058.2:p.Ala42Thr, XP_011540062.1:p.Ala42Thr, XP_016857179.1:p.Ala64Thr, XP_006710819.1:p.Ala64Thr, XP_006710818.1:p.Ala64Thr, XP_005271067.1:p.Ala64Thr, XP_047280467.1:p.Ala64Thr, XP_047280453.1:p.Ala64Thr

Select item 14874815603.

rs1487481560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46193592 (GRCh38)
1:46659264 (GRCh37)
Canonical SPDI:: NC_000001.11:46193591:A:G
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46193592A>G, NC_000001.10:g.46659264A>G, NG_009205.3:g.31714T>C, NM_017739.4:c.998T>C, NM_017739.3:c.998T>C, NM_001243766.2:c.998T>C, NM_001243766.1:c.998T>C, NM_001290129.2:c.932T>C, NM_001290129.1:c.932T>C, NM_001290130.2:c.569T>C, NM_001290130.1:c.569T>C, NM_001410783.1:c.998T>C, XM_011541760.4:c.932T>C, XM_011541760.3:c.932T>C, XM_011541760.2:c.932T>C, XM_011541760.1:c.932T>C, XM_017001690.2:c.998T>C, XM_017001690.1:c.998T>C, XM_006710756.2:c.998T>C, XM_006710756.1:c.998T>C, XM_006710755.2:c.998T>C, XM_006710755.1:c.998T>C, XM_005271010.2:c.998T>C, XM_005271010.1:c.998T>C, XM_047424511.1:c.998T>C, NR_024332.1:n.1649T>C, XM_047424497.1:c.998T>C, NP_060209.4:p.Ile333Thr, NP_001230695.2:p.Ile333Thr, NP_001277058.2:p.Ile311Thr, NP_001277059.2:p.Ile190Thr, XP_011540062.1:p.Ile311Thr, XP_016857179.1:p.Ile333Thr, XP_006710819.1:p.Ile333Thr, XP_006710818.1:p.Ile333Thr, XP_005271067.1:p.Ile333Thr, XP_047280467.1:p.Ile333Thr, XP_047280453.1:p.Ile333Thr

Select item 14872546564.

rs1487254656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:46195821 (GRCh38)
1:46661493 (GRCh37)
Canonical SPDI:: NC_000001.11:46195820:C:A,NC_000001.11:46195820:C:T
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46195821C>A, NC_000001.11:g.46195821C>T, NC_000001.10:g.46661493C>A, NC_000001.10:g.46661493C>T, NG_009205.3:g.29485G>T, NG_009205.3:g.29485G>A, NM_017739.4:c.524G>T, NM_017739.4:c.524G>A, NM_017739.3:c.524G>T, NM_017739.3:c.524G>A, NM_001243766.2:c.524G>T, NM_001243766.2:c.524G>A, NM_001243766.1:c.524G>T, NM_001243766.1:c.524G>A, NM_001290129.2:c.458G>T, NM_001290129.2:c.458G>A, NM_001290129.1:c.458G>T, NM_001290129.1:c.458G>A, NM_001290130.2:c.95G>T, NM_001290130.2:c.95G>A, NM_001290130.1:c.95G>T, NM_001290130.1:c.95G>A, NM_001410783.1:c.524G>T, NM_001410783.1:c.524G>A, XM_011541760.4:c.458G>T, XM_011541760.4:c.458G>A, XM_011541760.3:c.458G>T, XM_011541760.3:c.458G>A, XM_011541760.2:c.458G>T, XM_011541760.2:c.458G>A, XM_011541760.1:c.458G>T, XM_011541760.1:c.458G>A, XM_017001690.2:c.524G>T, XM_017001690.2:c.524G>A, XM_017001690.1:c.524G>T, XM_017001690.1:c.524G>A, XM_006710756.2:c.524G>T, XM_006710756.2:c.524G>A, XM_006710756.1:c.524G>T, XM_006710756.1:c.524G>A, XM_006710755.2:c.524G>T, XM_006710755.2:c.524G>A, XM_006710755.1:c.524G>T, XM_006710755.1:c.524G>A, XM_005271010.2:c.524G>T, XM_005271010.2:c.524G>A, XM_005271010.1:c.524G>T, XM_005271010.1:c.524G>A, XM_047424511.1:c.524G>T, XM_047424511.1:c.524G>A, NR_024332.1:n.1175G>T, NR_024332.1:n.1175G>A, XM_047424497.1:c.524G>T, XM_047424497.1:c.524G>A, NP_060209.4:p.Cys175Phe, NP_060209.4:p.Cys175Tyr, NP_001230695.2:p.Cys175Phe, NP_001230695.2:p.Cys175Tyr, NP_001277058.2:p.Cys153Phe, NP_001277058.2:p.Cys153Tyr, NP_001277059.2:p.Cys32Phe, NP_001277059.2:p.Cys32Tyr, XP_011540062.1:p.Cys153Phe, XP_011540062.1:p.Cys153Tyr, XP_016857179.1:p.Cys175Phe, XP_016857179.1:p.Cys175Tyr, XP_006710819.1:p.Cys175Phe, XP_006710819.1:p.Cys175Tyr, XP_006710818.1:p.Cys175Phe, XP_006710818.1:p.Cys175Tyr, XP_005271067.1:p.Cys175Phe, XP_005271067.1:p.Cys175Tyr, XP_047280467.1:p.Cys175Phe, XP_047280467.1:p.Cys175Tyr, XP_047280453.1:p.Cys175Phe, XP_047280453.1:p.Cys175Tyr

Select item 14844822105.

rs1484482210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:46189922 (GRCh38)
1:46655594 (GRCh37)
Canonical SPDI:: NC_000001.11:46189921:G:C
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.46189922G>C, NC_000001.10:g.46655594G>C, NG_009205.3:g.35384C>G, NM_017739.4:c.1717C>G, NM_017739.3:c.1717C>G, NM_001243766.2:c.1717C>G, NM_001243766.1:c.1717C>G, NM_001290129.2:c.1651C>G, NM_001290129.1:c.1651C>G, NM_001290130.2:c.1288C>G, NM_001290130.1:c.1288C>G, NM_001410783.1:c.1717C>G, XM_011541760.4:c.1651C>G, XM_011541760.3:c.1651C>G, XM_011541760.2:c.1651C>G, XM_011541760.1:c.1651C>G, XM_017001690.2:c.1717C>G, XM_017001690.1:c.1717C>G, XM_006710756.2:c.1717C>G, XM_006710756.1:c.1717C>G, XM_006710755.2:c.1717C>G, XM_006710755.1:c.1717C>G, XM_005271010.2:c.1717C>G, XM_005271010.1:c.1717C>G, XM_047424511.1:c.1717C>G, NR_024332.1:n.2368C>G, XM_047424497.1:c.1717C>G, NP_060209.4:p.His573Asp, NP_001230695.2:p.His573Asp, NP_001277058.2:p.His551Asp, NP_001277059.2:p.His430Asp, XP_011540062.1:p.His551Asp, XP_016857179.1:p.His573Asp, XP_006710819.1:p.His573Asp, XP_006710818.1:p.His573Asp, XP_005271067.1:p.His573Asp, XP_047280467.1:p.His573Asp, XP_047280453.1:p.His573Asp

Select item 14795139416.

rs1479513941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:46189558 (GRCh38)
1:46655230 (GRCh37)
Canonical SPDI:: NC_000001.11:46189557:T:C
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_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)
HGVS:: NC_000001.11:g.46189558T>C, NC_000001.10:g.46655230T>C, NG_009205.3:g.35748A>G, NM_017739.4:c.1795A>G, NM_017739.3:c.1795A>G, NM_001243766.2:c.1795A>G, NM_001243766.1:c.1795A>G, NM_001290129.2:c.1729A>G, NM_001290129.1:c.1729A>G, NM_001290130.2:c.1366A>G, NM_001290130.1:c.1366A>G, NM_001410783.1:c.1795A>G, XM_011541760.4:c.1729A>G, XM_011541760.3:c.1729A>G, XM_011541760.2:c.1729A>G, XM_011541760.1:c.1729A>G, XM_017001690.2:c.1795A>G, XM_017001690.1:c.1795A>G, XM_006710756.2:c.1795A>G, XM_006710756.1:c.1795A>G, XM_006710755.2:c.1795A>G, XM_006710755.1:c.1795A>G, XM_005271010.2:c.1795A>G, XM_005271010.1:c.1795A>G, XM_047424511.1:c.1795A>G, NR_024332.1:n.2446A>G, XM_047424497.1:c.1795A>G, NP_060209.4:p.Ile599Val, NP_001230695.2:p.Ile599Val, NP_001277058.2:p.Ile577Val, NP_001277059.2:p.Ile456Val, XP_011540062.1:p.Ile577Val, XP_016857179.1:p.Ile599Val, XP_006710819.1:p.Ile599Val, XP_006710818.1:p.Ile599Val, XP_005271067.1:p.Ile599Val, XP_047280467.1:p.Ile599Val, XP_047280453.1:p.Ile599Val

Select item 14789430227.

rs1478943022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:46189864 (GRCh38)
1:46655536 (GRCh37)
Canonical SPDI:: NC_000001.11:46189863:T:C,NC_000001.11:46189863:T:G
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46189864T>C, NC_000001.11:g.46189864T>G, NC_000001.10:g.46655536T>C, NC_000001.10:g.46655536T>G, NG_009205.3:g.35442A>G, NG_009205.3:g.35442A>C, NM_017739.4:c.1775A>G, NM_017739.4:c.1775A>C, NM_017739.3:c.1775A>G, NM_017739.3:c.1775A>C, NM_001243766.2:c.1775A>G, NM_001243766.2:c.1775A>C, NM_001243766.1:c.1775A>G, NM_001243766.1:c.1775A>C, NM_001290129.2:c.1709A>G, NM_001290129.2:c.1709A>C, NM_001290129.1:c.1709A>G, NM_001290129.1:c.1709A>C, NM_001290130.2:c.1346A>G, NM_001290130.2:c.1346A>C, NM_001290130.1:c.1346A>G, NM_001290130.1:c.1346A>C, NM_001410783.1:c.1775A>G, NM_001410783.1:c.1775A>C, XM_011541760.4:c.1709A>G, XM_011541760.4:c.1709A>C, XM_011541760.3:c.1709A>G, XM_011541760.3:c.1709A>C, XM_011541760.2:c.1709A>G, XM_011541760.2:c.1709A>C, XM_011541760.1:c.1709A>G, XM_011541760.1:c.1709A>C, XM_017001690.2:c.1775A>G, XM_017001690.2:c.1775A>C, XM_017001690.1:c.1775A>G, XM_017001690.1:c.1775A>C, XM_006710756.2:c.1775A>G, XM_006710756.2:c.1775A>C, XM_006710756.1:c.1775A>G, XM_006710756.1:c.1775A>C, XM_006710755.2:c.1775A>G, XM_006710755.2:c.1775A>C, XM_006710755.1:c.1775A>G, XM_006710755.1:c.1775A>C, XM_005271010.2:c.1775A>G, XM_005271010.2:c.1775A>C, XM_005271010.1:c.1775A>G, XM_005271010.1:c.1775A>C, XM_047424511.1:c.1775A>G, XM_047424511.1:c.1775A>C, NR_024332.1:n.2426A>G, NR_024332.1:n.2426A>C, XM_047424497.1:c.1775A>G, XM_047424497.1:c.1775A>C, NP_060209.4:p.Gln592Arg, NP_060209.4:p.Gln592Pro, NP_001230695.2:p.Gln592Arg, NP_001230695.2:p.Gln592Pro, NP_001277058.2:p.Gln570Arg, NP_001277058.2:p.Gln570Pro, NP_001277059.2:p.Gln449Arg, NP_001277059.2:p.Gln449Pro, XP_011540062.1:p.Gln570Arg, XP_011540062.1:p.Gln570Pro, XP_016857179.1:p.Gln592Arg, XP_016857179.1:p.Gln592Pro, XP_006710819.1:p.Gln592Arg, XP_006710819.1:p.Gln592Pro, XP_006710818.1:p.Gln592Arg, XP_006710818.1:p.Gln592Pro, XP_005271067.1:p.Gln592Arg, XP_005271067.1:p.Gln592Pro, XP_047280467.1:p.Gln592Arg, XP_047280467.1:p.Gln592Pro, XP_047280453.1:p.Gln592Arg, XP_047280453.1:p.Gln592Pro

Select item 14768143528.

rs1476814352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:46194291 (GRCh38)
1:46659963 (GRCh37)
Canonical SPDI:: NC_000001.11:46194290:C:T
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46194291C>T, NC_000001.10:g.46659963C>T, NG_009205.3:g.31015G>A, NM_017739.4:c.862G>A, NM_017739.3:c.862G>A, NM_001243766.2:c.862G>A, NM_001243766.1:c.862G>A, NM_001290129.2:c.796G>A, NM_001290129.1:c.796G>A, NM_001290130.2:c.433G>A, NM_001290130.1:c.433G>A, NM_001410783.1:c.862G>A, XM_011541760.4:c.796G>A, XM_011541760.3:c.796G>A, XM_011541760.2:c.796G>A, XM_011541760.1:c.796G>A, XM_017001690.2:c.862G>A, XM_017001690.1:c.862G>A, XM_006710756.2:c.862G>A, XM_006710756.1:c.862G>A, XM_006710755.2:c.862G>A, XM_006710755.1:c.862G>A, XM_005271010.2:c.862G>A, XM_005271010.1:c.862G>A, XM_047424511.1:c.862G>A, NR_024332.1:n.1513G>A, XM_047424497.1:c.862G>A, NP_060209.4:p.Glu288Lys, NP_001230695.2:p.Glu288Lys, NP_001277058.2:p.Glu266Lys, NP_001277059.2:p.Glu145Lys, XP_011540062.1:p.Glu266Lys, XP_016857179.1:p.Glu288Lys, XP_006710819.1:p.Glu288Lys, XP_006710818.1:p.Glu288Lys, XP_005271067.1:p.Glu288Lys, XP_047280467.1:p.Glu288Lys, XP_047280453.1:p.Glu288Lys

Select item 14724962349.

rs1472496234 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:46189339 (GRCh38)
1:46655011 (GRCh37)
Canonical SPDI:: NC_000001.11:46189338:TG:
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46189339_46189340del, NC_000001.10:g.46655011_46655012del, NG_009205.3:g.35966_35967del, NM_017739.4:c.1913_1914del, NM_017739.3:c.1913_1914del, NM_001243766.2:c.1887_1888del, NM_001243766.1:c.1887_1888del, NM_001290129.2:c.1847_1848del, NM_001290129.1:c.1847_1848del, NM_001290130.2:c.1484_1485del, NM_001290130.1:c.1484_1485del, XM_011541760.4:c.1847_1848del, XM_011541760.3:c.1847_1848del, XM_011541760.2:c.1847_1848del, XM_011541760.1:c.1847_1848del, XM_017001690.2:c.1913_1914del, XM_017001690.1:c.1913_1914del, XM_006710756.2:c.1887_1888del, XM_006710756.1:c.1887_1888del, XM_047424511.1:c.1913_1914del, NR_024332.1:n.2538_2539del, NP_060209.4:p.Ser638fs, NP_001230695.2:p.His631fs, NP_001277058.2:p.Ser616fs, NP_001277059.2:p.Ser495fs, XP_011540062.1:p.Ser616fs, XP_016857179.1:p.Ser638fs, XP_006710819.1:p.His631fs, XP_047280467.1:p.Ser638fs

Select item 146909845810.

rs1469098458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:46192317 (GRCh38)
1:46657989 (GRCh37)
Canonical SPDI:: NC_000001.11:46192316:T:C
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.46192317T>C, NC_000001.10:g.46657989T>C, NG_009205.3:g.32989A>G, NM_017739.4:c.1404A>G, NM_017739.3:c.1404A>G, NM_001243766.2:c.1404A>G, NM_001243766.1:c.1404A>G, NM_001290129.2:c.1338A>G, NM_001290129.1:c.1338A>G, NM_001290130.2:c.975A>G, NM_001290130.1:c.975A>G, NM_001410783.1:c.1404A>G, XM_011541760.4:c.1338A>G, XM_011541760.3:c.1338A>G, XM_011541760.2:c.1338A>G, XM_011541760.1:c.1338A>G, XM_017001690.2:c.1404A>G, XM_017001690.1:c.1404A>G, XM_006710756.2:c.1404A>G, XM_006710756.1:c.1404A>G, XM_006710755.2:c.1404A>G, XM_006710755.1:c.1404A>G, XM_005271010.2:c.1404A>G, XM_005271010.1:c.1404A>G, XM_047424511.1:c.1404A>G, NR_024332.1:n.2055A>G, XM_047424497.1:c.1404A>G

Select item 146897349211.

rs1468973492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46197329 (GRCh38)
1:46663001 (GRCh37)
Canonical SPDI:: NC_000001.11:46197328:A:G
Gene:: POMGNT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46197329A>G, NC_000001.10:g.46663001A>G, NG_009205.3:g.27977T>C, NM_001290129.2:c.33T>C, NM_001290129.1:c.33T>C, XM_011541760.4:c.33T>C, XM_011541760.3:c.33T>C, XM_011541760.2:c.33T>C, XM_011541760.1:c.33T>C

Select item 146700712312.

rs1467007123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46189343 (GRCh38)
1:46655015 (GRCh37)
Canonical SPDI:: NC_000001.11:46189342:G:A
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.46189343G>A, NC_000001.10:g.46655015G>A, NG_009205.3:g.35963C>T, NM_017739.4:c.1910C>T, NM_017739.3:c.1910C>T, NM_001243766.2:c.1884C>T, NM_001243766.1:c.1884C>T, NM_001290129.2:c.1844C>T, NM_001290129.1:c.1844C>T, NM_001290130.2:c.1481C>T, NM_001290130.1:c.1481C>T, XM_011541760.4:c.1844C>T, XM_011541760.3:c.1844C>T, XM_011541760.2:c.1844C>T, XM_011541760.1:c.1844C>T, XM_017001690.2:c.1910C>T, XM_017001690.1:c.1910C>T, XM_006710756.2:c.1884C>T, XM_006710756.1:c.1884C>T, XM_047424511.1:c.1910C>T, NR_024332.1:n.2535C>T, NP_060209.4:p.Pro637Leu, NP_001277058.2:p.Pro615Leu, NP_001277059.2:p.Pro494Leu, XP_011540062.1:p.Pro615Leu, XP_016857179.1:p.Pro637Leu, XP_047280467.1:p.Pro637Leu

Select item 146659704913.

rs1466597049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:46189530 (GRCh38)
1:46655202 (GRCh37)
Canonical SPDI:: NC_000001.11:46189529:T:C
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46189530T>C, NC_000001.10:g.46655202T>C, NG_009205.3:g.35776A>G, NM_017739.4:c.1823A>G, NM_017739.3:c.1823A>G, NM_001243766.2:c.1823A>G, NM_001243766.1:c.1823A>G, NM_001290129.2:c.1757A>G, NM_001290129.1:c.1757A>G, NM_001290130.2:c.1394A>G, NM_001290130.1:c.1394A>G, NM_001410783.1:c.1823A>G, XM_011541760.4:c.1757A>G, XM_011541760.3:c.1757A>G, XM_011541760.2:c.1757A>G, XM_011541760.1:c.1757A>G, XM_017001690.2:c.1823A>G, XM_017001690.1:c.1823A>G, XM_006710756.2:c.1823A>G, XM_006710756.1:c.1823A>G, XM_006710755.2:c.1823A>G, XM_006710755.1:c.1823A>G, XM_005271010.2:c.1823A>G, XM_005271010.1:c.1823A>G, XM_047424511.1:c.1823A>G, NR_024332.1:n.2474A>G, XM_047424497.1:c.1823A>G, NP_060209.4:p.His608Arg, NP_001230695.2:p.His608Arg, NP_001277058.2:p.His586Arg, NP_001277059.2:p.His465Arg, XP_011540062.1:p.His586Arg, XP_016857179.1:p.His608Arg, XP_006710819.1:p.His608Arg, XP_006710818.1:p.His608Arg, XP_005271067.1:p.His608Arg, XP_047280467.1:p.His608Arg, XP_047280453.1:p.His608Arg

Select item 146650486314.

rs1466504863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46194893 (GRCh38)
1:46660565 (GRCh37)
Canonical SPDI:: NC_000001.11:46194892:G:A
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.46194893G>A, NC_000001.10:g.46660565G>A, NG_009205.3:g.30413C>T, NM_017739.4:c.603C>T, NM_017739.3:c.603C>T, NM_001243766.2:c.603C>T, NM_001243766.1:c.603C>T, NM_001290129.2:c.537C>T, NM_001290129.1:c.537C>T, NM_001290130.2:c.174C>T, NM_001290130.1:c.174C>T, NM_001410783.1:c.603C>T, XM_011541760.4:c.537C>T, XM_011541760.3:c.537C>T, XM_011541760.2:c.537C>T, XM_011541760.1:c.537C>T, XM_017001690.2:c.603C>T, XM_017001690.1:c.603C>T, XM_006710756.2:c.603C>T, XM_006710756.1:c.603C>T, XM_006710755.2:c.603C>T, XM_006710755.1:c.603C>T, XM_005271010.2:c.603C>T, XM_005271010.1:c.603C>T, XM_047424511.1:c.603C>T, NR_024332.1:n.1254C>T, XM_047424497.1:c.603C>T

Select item 146586266115.

rs1465862661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:46192107 (GRCh38)
1:46657779 (GRCh37)
Canonical SPDI:: NC_000001.11:46192106:G:A
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.46192107G>A, NC_000001.10:g.46657779G>A, NG_009205.3:g.33199C>T, NM_017739.4:c.1530C>T, NM_017739.3:c.1530C>T, NM_001243766.2:c.1530C>T, NM_001243766.1:c.1530C>T, NM_001290129.2:c.1464C>T, NM_001290129.1:c.1464C>T, NM_001290130.2:c.1101C>T, NM_001290130.1:c.1101C>T, NM_001410783.1:c.1530C>T, XM_011541760.4:c.1464C>T, XM_011541760.3:c.1464C>T, XM_011541760.2:c.1464C>T, XM_011541760.1:c.1464C>T, XM_017001690.2:c.1530C>T, XM_017001690.1:c.1530C>T, XM_006710756.2:c.1530C>T, XM_006710756.1:c.1530C>T, XM_006710755.2:c.1530C>T, XM_006710755.1:c.1530C>T, XM_005271010.2:c.1530C>T, XM_005271010.1:c.1530C>T, XM_047424511.1:c.1530C>T, NR_024332.1:n.2181C>T, XM_047424497.1:c.1530C>T

Select item 146043090116.

rs1460430901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:46192919 (GRCh38)
1:46658591 (GRCh37)
Canonical SPDI:: NC_000001.11:46192918:T:C
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46192919T>C, NC_000001.10:g.46658591T>C, NG_009205.3:g.32387A>G, NM_017739.4:c.1192A>G, NM_017739.3:c.1192A>G, NM_001243766.2:c.1192A>G, NM_001243766.1:c.1192A>G, NM_001290129.2:c.1126A>G, NM_001290129.1:c.1126A>G, NM_001290130.2:c.763A>G, NM_001290130.1:c.763A>G, NM_001410783.1:c.1192A>G, XM_011541760.4:c.1126A>G, XM_011541760.3:c.1126A>G, XM_011541760.2:c.1126A>G, XM_011541760.1:c.1126A>G, XM_017001690.2:c.1192A>G, XM_017001690.1:c.1192A>G, XM_006710756.2:c.1192A>G, XM_006710756.1:c.1192A>G, XM_006710755.2:c.1192A>G, XM_006710755.1:c.1192A>G, XM_005271010.2:c.1192A>G, XM_005271010.1:c.1192A>G, XM_047424511.1:c.1192A>G, NR_024332.1:n.1843A>G, XM_047424497.1:c.1192A>G, NP_060209.4:p.Ile398Val, NP_001230695.2:p.Ile398Val, NP_001277058.2:p.Ile376Val, NP_001277059.2:p.Ile255Val, XP_011540062.1:p.Ile376Val, XP_016857179.1:p.Ile398Val, XP_006710819.1:p.Ile398Val, XP_006710818.1:p.Ile398Val, XP_005271067.1:p.Ile398Val, XP_047280467.1:p.Ile398Val, XP_047280453.1:p.Ile398Val

Select item 146027688717.

rs1460276887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:46194562 (GRCh38)
1:46660234 (GRCh37)
Canonical SPDI:: NC_000001.11:46194561:A:G
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.46194562A>G, NC_000001.10:g.46660234A>G, NG_009205.3:g.30744T>C, NM_017739.4:c.742T>C, NM_017739.3:c.742T>C, NM_001243766.2:c.742T>C, NM_001243766.1:c.742T>C, NM_001290129.2:c.676T>C, NM_001290129.1:c.676T>C, NM_001290130.2:c.313T>C, NM_001290130.1:c.313T>C, NM_001410783.1:c.742T>C, XM_011541760.4:c.676T>C, XM_011541760.3:c.676T>C, XM_011541760.2:c.676T>C, XM_011541760.1:c.676T>C, XM_017001690.2:c.742T>C, XM_017001690.1:c.742T>C, XM_006710756.2:c.742T>C, XM_006710756.1:c.742T>C, XM_006710755.2:c.742T>C, XM_006710755.1:c.742T>C, XM_005271010.2:c.742T>C, XM_005271010.1:c.742T>C, XM_047424511.1:c.742T>C, NR_024332.1:n.1393T>C, XM_047424497.1:c.742T>C, NP_060209.4:p.Ser248Pro, NP_001230695.2:p.Ser248Pro, NP_001277058.2:p.Ser226Pro, NP_001277059.2:p.Ser105Pro, XP_011540062.1:p.Ser226Pro, XP_016857179.1:p.Ser248Pro, XP_006710819.1:p.Ser248Pro, XP_006710818.1:p.Ser248Pro, XP_005271067.1:p.Ser248Pro, XP_047280467.1:p.Ser248Pro, XP_047280453.1:p.Ser248Pro

Select item 145971869918.

rs1459718699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:46196831 (GRCh38)
1:46662503 (GRCh37)
Canonical SPDI:: NC_000001.11:46196830:A:T
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.46196831A>T, NC_000001.10:g.46662503A>T, NG_009205.3:g.28475T>A, NM_017739.4:c.254T>A, NM_017739.3:c.254T>A, NM_001243766.2:c.254T>A, NM_001243766.1:c.254T>A, NM_001290129.2:c.188T>A, NM_001290129.1:c.188T>A, NM_001290130.2:c.-176T>A, NM_001290130.1:c.-176T>A, NM_001410783.1:c.254T>A, XM_011541760.4:c.188T>A, XM_011541760.3:c.188T>A, XM_011541760.2:c.188T>A, XM_011541760.1:c.188T>A, XM_017001690.2:c.254T>A, XM_017001690.1:c.254T>A, XM_006710756.2:c.254T>A, XM_006710756.1:c.254T>A, XM_006710755.2:c.254T>A, XM_006710755.1:c.254T>A, XM_005271010.2:c.254T>A, XM_005271010.1:c.254T>A, XM_047424511.1:c.254T>A, NR_024332.1:n.905T>A, XM_047424497.1:c.254T>A, NP_060209.4:p.Leu85Gln, NP_001230695.2:p.Leu85Gln, NP_001277058.2:p.Leu63Gln, XP_011540062.1:p.Leu63Gln, XP_016857179.1:p.Leu85Gln, XP_006710819.1:p.Leu85Gln, XP_006710818.1:p.Leu85Gln, XP_005271067.1:p.Leu85Gln, XP_047280467.1:p.Leu85Gln, XP_047280453.1:p.Leu85Gln

Select item 145924340419.

rs1459243404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:46196760 (GRCh38)
1:46662432 (GRCh37)
Canonical SPDI:: NC_000001.11:46196759:T:C
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.46196760T>C, NC_000001.10:g.46662432T>C, NG_009205.3:g.28546A>G, NM_017739.4:c.325A>G, NM_017739.3:c.325A>G, NM_001243766.2:c.325A>G, NM_001243766.1:c.325A>G, NM_001290129.2:c.259A>G, NM_001290129.1:c.259A>G, NM_001290130.2:c.-105A>G, NM_001290130.1:c.-105A>G, NM_001410783.1:c.325A>G, XM_011541760.4:c.259A>G, XM_011541760.3:c.259A>G, XM_011541760.2:c.259A>G, XM_011541760.1:c.259A>G, XM_017001690.2:c.325A>G, XM_017001690.1:c.325A>G, XM_006710756.2:c.325A>G, XM_006710756.1:c.325A>G, XM_006710755.2:c.325A>G, XM_006710755.1:c.325A>G, XM_005271010.2:c.325A>G, XM_005271010.1:c.325A>G, XM_047424511.1:c.325A>G, NR_024332.1:n.976A>G, XM_047424497.1:c.325A>G, NP_060209.4:p.Lys109Glu, NP_001230695.2:p.Lys109Glu, NP_001277058.2:p.Lys87Glu, XP_011540062.1:p.Lys87Glu, XP_016857179.1:p.Lys109Glu, XP_006710819.1:p.Lys109Glu, XP_006710818.1:p.Lys109Glu, XP_005271067.1:p.Lys109Glu, XP_047280467.1:p.Lys109Glu, XP_047280453.1:p.Lys109Glu

Select item 145769164220.

rs1457691642 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:46192135 (GRCh38)
1:46657807 (GRCh37)
Canonical SPDI:: NC_000001.11:46192133:AAA:A
Gene:: TSPAN1 (Varview), POMGNT1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
HGVS:: NC_000001.11:g.46192135_46192136del, NC_000001.10:g.46657807_46657808del, NG_009205.3:g.33171_33172del, NM_017739.4:c.1502_1503del, NM_017739.3:c.1502_1503del, NM_001243766.2:c.1502_1503del, NM_001243766.1:c.1502_1503del, NM_001290129.2:c.1436_1437del, NM_001290129.1:c.1436_1437del, NM_001290130.2:c.1073_1074del, NM_001290130.1:c.1073_1074del, NM_001410783.1:c.1502_1503del, XM_011541760.4:c.1436_1437del, XM_011541760.3:c.1436_1437del, XM_011541760.2:c.1436_1437del, XM_011541760.1:c.1436_1437del, XM_017001690.2:c.1502_1503del, XM_017001690.1:c.1502_1503del, XM_006710756.2:c.1502_1503del, XM_006710756.1:c.1502_1503del, XM_006710755.2:c.1502_1503del, XM_006710755.1:c.1502_1503del, XM_005271010.2:c.1502_1503del, XM_005271010.1:c.1502_1503del, XM_047424511.1:c.1502_1503del, NR_024332.1:n.2153_2154del, XM_047424497.1:c.1502_1503del, NP_060209.4:p.Phe501fs, NP_001230695.2:p.Phe501fs, NP_001277058.2:p.Phe479fs, NP_001277059.2:p.Phe358fs, XP_011540062.1:p.Phe479fs, XP_016857179.1:p.Phe501fs, XP_006710819.1:p.Phe501fs, XP_006710818.1:p.Phe501fs, XP_005271067.1:p.Phe501fs, XP_047280467.1:p.Phe501fs, XP_047280453.1:p.Phe501fs

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