SNP Links for Protein (Select 525342559) - SNP

Links from Protein

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Select item 14888321991.

rs1488832199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54100939 (GRCh38)
8:55013499 (GRCh37)
Canonical SPDI:: NC_000008.11:54100938:C:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.54100939C>T, NC_000008.10:g.55013499C>T, XM_005251127.6:c.-38G>A, XM_005251127.5:c.-38G>A, XM_005251127.4:c.-38G>A, XM_005251127.3:c.-38G>A, XM_005251127.2:c.-38G>A, XM_005251127.1:c.-38G>A, NM_006330.4:c.70G>A, NM_006330.3:c.70G>A, XM_017012956.3:c.70G>A, XM_017012956.2:c.70G>A, XM_017012956.1:c.70G>A, NM_001279359.2:c.-38G>A, NM_001279359.1:c.-38G>A, NM_001279358.2:c.70G>A, NM_001279358.1:c.70G>A, NM_001279357.2:c.70G>A, NM_001279357.1:c.70G>A, NM_001279360.2:c.-123G>A, NM_001279360.1:c.-123G>A, XM_017012958.2:c.-38G>A, XM_017012958.1:c.-38G>A, NM_001279356.2:c.70G>A, NM_001279356.1:c.70G>A, XM_017012960.2:c.-57G>A, XM_017012960.1:c.-57G>A, XM_047421228.1:c.-32G>A, XM_047421223.1:c.-32G>A, XM_047421224.1:c.-32G>A, XM_047421227.1:c.-200G>A, XM_047421226.1:c.-115G>A, XM_047421225.1:c.70G>A, NP_006321.1:p.Val24Met, XP_016868445.1:p.Val24Met, NP_001266287.1:p.Val24Met, NP_001266286.1:p.Val24Met, NP_001266285.1:p.Val24Met, XP_047277181.1:p.Val24Met

Select item 14853949612.

rs1485394961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54100937 (GRCh38)
8:55013497 (GRCh37)
Canonical SPDI:: NC_000008.11:54100936:C:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.54100937C>T, NC_000008.10:g.55013497C>T, XM_005251127.6:c.-36G>A, XM_005251127.5:c.-36G>A, XM_005251127.4:c.-36G>A, XM_005251127.3:c.-36G>A, XM_005251127.2:c.-36G>A, XM_005251127.1:c.-36G>A, NM_006330.4:c.72G>A, NM_006330.3:c.72G>A, XM_017012956.3:c.72G>A, XM_017012956.2:c.72G>A, XM_017012956.1:c.72G>A, NM_001279359.2:c.-36G>A, NM_001279359.1:c.-36G>A, NM_001279358.2:c.72G>A, NM_001279358.1:c.72G>A, NM_001279357.2:c.72G>A, NM_001279357.1:c.72G>A, NM_001279360.2:c.-121G>A, NM_001279360.1:c.-121G>A, XM_017012958.2:c.-36G>A, XM_017012958.1:c.-36G>A, NM_001279356.2:c.72G>A, NM_001279356.1:c.72G>A, XM_017012960.2:c.-55G>A, XM_017012960.1:c.-55G>A, XM_047421228.1:c.-30G>A, XM_047421223.1:c.-30G>A, XM_047421224.1:c.-30G>A, XM_047421227.1:c.-198G>A, XM_047421226.1:c.-113G>A, XM_047421225.1:c.72G>A

Select item 14765069663.

rs1476506966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:54051183 (GRCh38)
8:54963743 (GRCh37)
Canonical SPDI:: NC_000008.11:54051182:A:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.54051183A>T, NC_000008.10:g.54963743A>T, XM_005251127.6:c.321T>A, XM_005251127.5:c.321T>A, XM_005251127.4:c.321T>A, XM_005251127.3:c.321T>A, XM_005251127.2:c.321T>A, XM_005251127.1:c.321T>A, NM_006330.4:c.468T>A, NM_006330.3:c.468T>A, XM_017012956.3:c.402T>A, XM_017012956.2:c.402T>A, XM_017012956.1:c.402T>A, NM_001279359.2:c.321T>A, NM_001279359.1:c.321T>A, NM_001279357.2:c.420T>A, NM_001279357.1:c.420T>A, NM_001279360.2:c.276T>A, NM_001279360.1:c.276T>A, NM_001279356.2:c.366T>A, NM_001279356.1:c.366T>A, XM_017012960.2:c.276T>A, XM_017012960.1:c.276T>A, XM_047421228.1:c.579T>A, XM_047421223.1:c.579T>A, XM_047421227.1:c.276T>A, XM_047421226.1:c.321T>A

Select item 14752005864.

rs1475200586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54048085 (GRCh38)
8:54960645 (GRCh37)
Canonical SPDI:: NC_000008.11:54048084:G:A
Gene:: LYPLA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.54048085G>A, NC_000008.10:g.54960645G>A, XM_005251127.6:c.526C>T, XM_005251127.5:c.526C>T, XM_005251127.4:c.526C>T, XM_005251127.3:c.526C>T, XM_005251127.2:c.526C>T, XM_005251127.1:c.526C>T, NM_006330.4:c.673C>T, NM_006330.3:c.673C>T, XM_017012956.3:c.607C>T, XM_017012956.2:c.607C>T, XM_017012956.1:c.607C>T, NM_001279359.2:c.526C>T, NM_001279359.1:c.526C>T, NM_001279358.2:c.631C>T, NM_001279358.1:c.631C>T, NM_001279357.2:c.625C>T, NM_001279357.1:c.625C>T, NM_001279360.2:c.481C>T, NM_001279360.1:c.481C>T, XM_017012958.2:c.484C>T, XM_017012958.1:c.484C>T, NM_001279356.2:c.571C>T, NM_001279356.1:c.571C>T, XM_017012960.2:c.481C>T, XM_017012960.1:c.481C>T, XM_047421228.1:c.784C>T, XM_047421223.1:c.784C>T, XM_047421224.1:c.742C>T, XM_047421227.1:c.481C>T, XM_047421226.1:c.526C>T, XM_047421225.1:c.565C>T, XP_005251184.1:p.Leu176Phe, NP_006321.1:p.Leu225Phe, XP_016868445.1:p.Leu203Phe, NP_001266288.1:p.Leu176Phe, NP_001266287.1:p.Leu211Phe, NP_001266286.1:p.Leu209Phe, NP_001266289.1:p.Leu161Phe, XP_016868447.1:p.Leu162Phe, NP_001266285.1:p.Leu191Phe, XP_016868449.1:p.Leu161Phe, XP_047277184.1:p.Leu262Phe, XP_047277179.1:p.Leu262Phe, XP_047277180.1:p.Leu248Phe, XP_047277183.1:p.Leu161Phe, XP_047277182.1:p.Leu176Phe, XP_047277181.1:p.Leu189Phe

Select item 14700224315.

rs1470022431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54062311 (GRCh38)
8:54974871 (GRCh37)
Canonical SPDI:: NC_000008.11:54062310:C:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.54062311C>T, NC_000008.10:g.54974871C>T, XM_005251127.6:c.82G>A, XM_005251127.5:c.82G>A, XM_005251127.4:c.82G>A, XM_005251127.3:c.82G>A, XM_005251127.2:c.82G>A, XM_005251127.1:c.82G>A, NM_006330.4:c.229G>A, NM_006330.3:c.229G>A, XM_017012956.3:c.163G>A, XM_017012956.2:c.163G>A, XM_017012956.1:c.163G>A, NM_001279359.2:c.82G>A, NM_001279359.1:c.82G>A, NM_001279358.2:c.229G>A, NM_001279358.1:c.229G>A, NM_001279357.2:c.181G>A, NM_001279357.1:c.181G>A, NM_001279360.2:c.37G>A, NM_001279360.1:c.37G>A, XM_017012958.2:c.82G>A, XM_017012958.1:c.82G>A, NM_001279356.2:c.229G>A, NM_001279356.1:c.229G>A, XM_017012960.2:c.37G>A, XM_017012960.1:c.37G>A, XM_047421228.1:c.340G>A, XM_047421223.1:c.340G>A, XM_047421224.1:c.340G>A, XM_047421227.1:c.37G>A, XM_047421226.1:c.82G>A, XM_047421225.1:c.163G>A, XP_005251184.1:p.Gly28Arg, NP_006321.1:p.Gly77Arg, XP_016868445.1:p.Gly55Arg, NP_001266288.1:p.Gly28Arg, NP_001266287.1:p.Gly77Arg, NP_001266286.1:p.Gly61Arg, NP_001266289.1:p.Gly13Arg, XP_016868447.1:p.Gly28Arg, NP_001266285.1:p.Gly77Arg, XP_016868449.1:p.Gly13Arg, XP_047277184.1:p.Gly114Arg, XP_047277179.1:p.Gly114Arg, XP_047277180.1:p.Gly114Arg, XP_047277183.1:p.Gly13Arg, XP_047277182.1:p.Gly28Arg, XP_047277181.1:p.Gly55Arg

Select item 14652083956.

rs1465208395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:54062285 (GRCh38)
8:54974845 (GRCh37)
Canonical SPDI:: NC_000008.11:54062284:A:G
Gene:: LYPLA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.54062285A>G, NC_000008.10:g.54974845A>G, XM_005251127.6:c.108T>C, XM_005251127.5:c.108T>C, XM_005251127.4:c.108T>C, XM_005251127.3:c.108T>C, XM_005251127.2:c.108T>C, XM_005251127.1:c.108T>C, NM_006330.4:c.255T>C, NM_006330.3:c.255T>C, XM_017012956.3:c.189T>C, XM_017012956.2:c.189T>C, XM_017012956.1:c.189T>C, NM_001279359.2:c.108T>C, NM_001279359.1:c.108T>C, NM_001279358.2:c.255T>C, NM_001279358.1:c.255T>C, NM_001279357.2:c.207T>C, NM_001279357.1:c.207T>C, NM_001279360.2:c.63T>C, NM_001279360.1:c.63T>C, XM_017012958.2:c.108T>C, XM_017012958.1:c.108T>C, NM_001279356.2:c.255T>C, NM_001279356.1:c.255T>C, XM_017012960.2:c.63T>C, XM_017012960.1:c.63T>C, XM_047421228.1:c.366T>C, XM_047421223.1:c.366T>C, XM_047421224.1:c.366T>C, XM_047421227.1:c.63T>C, XM_047421226.1:c.108T>C, XM_047421225.1:c.189T>C

Select item 14538360477.

rs1453836047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:54065769 (GRCh38)
8:54978329 (GRCh37)
Canonical SPDI:: NC_000008.11:54065768:A:G,NC_000008.11:54065768:A:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.54065769A>G, NC_000008.11:g.54065769A>T, NC_000008.10:g.54978329A>G, NC_000008.10:g.54978329A>T, NM_006330.4:c.146T>C, NM_006330.4:c.146T>A, NM_006330.3:c.146T>C, NM_006330.3:c.146T>A, NM_001279358.2:c.146T>C, NM_001279358.2:c.146T>A, NM_001279358.1:c.146T>C, NM_001279358.1:c.146T>A, NM_001279357.2:c.146T>C, NM_001279357.2:c.146T>A, NM_001279357.1:c.146T>C, NM_001279357.1:c.146T>A, NM_001279360.2:c.-47T>C, NM_001279360.2:c.-47T>A, NM_001279360.1:c.-47T>C, NM_001279360.1:c.-47T>A, NM_001279356.2:c.146T>C, NM_001279356.2:c.146T>A, NM_001279356.1:c.146T>C, NM_001279356.1:c.146T>A, XM_047421228.1:c.257T>C, XM_047421228.1:c.257T>A, XM_047421223.1:c.257T>C, XM_047421223.1:c.257T>A, XM_047421224.1:c.257T>C, XM_047421224.1:c.257T>A, XM_047421227.1:c.-47T>C, XM_047421227.1:c.-47T>A, NP_006321.1:p.Ile49Thr, NP_006321.1:p.Ile49Asn, NP_001266287.1:p.Ile49Thr, NP_001266287.1:p.Ile49Asn, NP_001266286.1:p.Ile49Thr, NP_001266286.1:p.Ile49Asn, NP_001266285.1:p.Ile49Thr, NP_001266285.1:p.Ile49Asn, XP_047277184.1:p.Ile86Thr, XP_047277184.1:p.Ile86Asn, XP_047277179.1:p.Ile86Thr, XP_047277179.1:p.Ile86Asn, XP_047277180.1:p.Ile86Thr, XP_047277180.1:p.Ile86Asn

Select item 14462633048.

rs1446263304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:54101765 (GRCh38)
8:55014325 (GRCh37)
Canonical SPDI:: NC_000008.11:54101764:G:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.54101765G>T, NC_000008.10:g.55014325G>T, NM_006330.4:c.59C>A, NM_006330.3:c.59C>A, XM_017012956.3:c.59C>A, XM_017012956.2:c.59C>A, XM_017012956.1:c.59C>A, NM_001279359.2:c.-49C>A, NM_001279359.1:c.-49C>A, NM_001279358.2:c.59C>A, NM_001279358.1:c.59C>A, NM_001279357.2:c.59C>A, NM_001279357.1:c.59C>A, XM_017012958.2:c.-49C>A, XM_017012958.1:c.-49C>A, NM_001279356.2:c.59C>A, NM_001279356.1:c.59C>A, XM_047421228.1:c.-43C>A, XM_047421225.1:c.59C>A, NP_006321.1:p.Ala20Asp, XP_016868445.1:p.Ala20Asp, NP_001266287.1:p.Ala20Asp, NP_001266286.1:p.Ala20Asp, NP_001266285.1:p.Ala20Asp, XP_047277181.1:p.Ala20Asp

Select item 14438488549.

rs1443848854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:54051031 (GRCh38)
8:54963591 (GRCh37)
Canonical SPDI:: NC_000008.11:54051030:A:G,NC_000008.11:54051030:A:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.54051031A>G, NC_000008.11:g.54051031A>T, NC_000008.10:g.54963591A>G, NC_000008.10:g.54963591A>T, XM_005251127.6:c.473T>C, XM_005251127.6:c.473T>A, XM_005251127.5:c.473T>C, XM_005251127.5:c.473T>A, XM_005251127.4:c.473T>C, XM_005251127.4:c.473T>A, XM_005251127.3:c.473T>C, XM_005251127.3:c.473T>A, XM_005251127.2:c.473T>C, XM_005251127.2:c.473T>A, XM_005251127.1:c.473T>C, XM_005251127.1:c.473T>A, NM_006330.4:c.620T>C, NM_006330.4:c.620T>A, NM_006330.3:c.620T>C, NM_006330.3:c.620T>A, XM_017012956.3:c.554T>C, XM_017012956.3:c.554T>A, XM_017012956.2:c.554T>C, XM_017012956.2:c.554T>A, XM_017012956.1:c.554T>C, XM_017012956.1:c.554T>A, NM_001279359.2:c.473T>C, NM_001279359.2:c.473T>A, NM_001279359.1:c.473T>C, NM_001279359.1:c.473T>A, NM_001279358.2:c.578T>C, NM_001279358.2:c.578T>A, NM_001279358.1:c.578T>C, NM_001279358.1:c.578T>A, NM_001279357.2:c.572T>C, NM_001279357.2:c.572T>A, NM_001279357.1:c.572T>C, NM_001279357.1:c.572T>A, NM_001279360.2:c.428T>C, NM_001279360.2:c.428T>A, NM_001279360.1:c.428T>C, NM_001279360.1:c.428T>A, XM_017012958.2:c.431T>C, XM_017012958.2:c.431T>A, XM_017012958.1:c.431T>C, XM_017012958.1:c.431T>A, NM_001279356.2:c.518T>C, NM_001279356.2:c.518T>A, NM_001279356.1:c.518T>C, NM_001279356.1:c.518T>A, XM_017012960.2:c.428T>C, XM_017012960.2:c.428T>A, XM_017012960.1:c.428T>C, XM_017012960.1:c.428T>A, XM_047421228.1:c.731T>C, XM_047421228.1:c.731T>A, XM_047421223.1:c.731T>C, XM_047421223.1:c.731T>A, XM_047421224.1:c.689T>C, XM_047421224.1:c.689T>A, XM_047421227.1:c.428T>C, XM_047421227.1:c.428T>A, XM_047421226.1:c.473T>C, XM_047421226.1:c.473T>A, XM_047421225.1:c.512T>C, XM_047421225.1:c.512T>A, XP_005251184.1:p.Met158Thr, XP_005251184.1:p.Met158Lys, NP_006321.1:p.Met207Thr, NP_006321.1:p.Met207Lys, XP_016868445.1:p.Met185Thr, XP_016868445.1:p.Met185Lys, NP_001266288.1:p.Met158Thr, NP_001266288.1:p.Met158Lys, NP_001266287.1:p.Met193Thr, NP_001266287.1:p.Met193Lys, NP_001266286.1:p.Met191Thr, NP_001266286.1:p.Met191Lys, NP_001266289.1:p.Met143Thr, NP_001266289.1:p.Met143Lys, XP_016868447.1:p.Met144Thr, XP_016868447.1:p.Met144Lys, NP_001266285.1:p.Met173Thr, NP_001266285.1:p.Met173Lys, XP_016868449.1:p.Met143Thr, XP_016868449.1:p.Met143Lys, XP_047277184.1:p.Met244Thr, XP_047277184.1:p.Met244Lys, XP_047277179.1:p.Met244Thr, XP_047277179.1:p.Met244Lys, XP_047277180.1:p.Met230Thr, XP_047277180.1:p.Met230Lys, XP_047277183.1:p.Met143Thr, XP_047277183.1:p.Met143Lys, XP_047277182.1:p.Met158Thr, XP_047277182.1:p.Met158Lys, XP_047277181.1:p.Met171Thr, XP_047277181.1:p.Met171Lys

Select item 144332145610.

rs1443321456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:54051045 (GRCh38)
8:54963605 (GRCh37)
Canonical SPDI:: NC_000008.11:54051044:G:T
Gene:: LYPLA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.54051045G>T, NC_000008.10:g.54963605G>T, XM_005251127.6:c.459C>A, XM_005251127.5:c.459C>A, XM_005251127.4:c.459C>A, XM_005251127.3:c.459C>A, XM_005251127.2:c.459C>A, XM_005251127.1:c.459C>A, NM_006330.4:c.606C>A, NM_006330.3:c.606C>A, XM_017012956.3:c.540C>A, XM_017012956.2:c.540C>A, XM_017012956.1:c.540C>A, NM_001279359.2:c.459C>A, NM_001279359.1:c.459C>A, NM_001279358.2:c.564C>A, NM_001279358.1:c.564C>A, NM_001279357.2:c.558C>A, NM_001279357.1:c.558C>A, NM_001279360.2:c.414C>A, NM_001279360.1:c.414C>A, XM_017012958.2:c.417C>A, XM_017012958.1:c.417C>A, NM_001279356.2:c.504C>A, NM_001279356.1:c.504C>A, XM_017012960.2:c.414C>A, XM_017012960.1:c.414C>A, XM_047421228.1:c.717C>A, XM_047421223.1:c.717C>A, XM_047421224.1:c.675C>A, XM_047421227.1:c.414C>A, XM_047421226.1:c.459C>A, XM_047421225.1:c.498C>A

Select item 144068591111.

rs1440685911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54101788 (GRCh38)
8:55014348 (GRCh37)
Canonical SPDI:: NC_000008.11:54101787:G:A
Gene:: LYPLA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
HGVS:: NC_000008.11:g.54101788G>A, NC_000008.10:g.55014348G>A, NM_006330.4:c.36C>T, NM_006330.3:c.36C>T, XM_017012956.3:c.36C>T, XM_017012956.2:c.36C>T, XM_017012956.1:c.36C>T, NM_001279359.2:c.-72C>T, NM_001279359.1:c.-72C>T, NM_001279358.2:c.36C>T, NM_001279358.1:c.36C>T, NM_001279357.2:c.36C>T, NM_001279357.1:c.36C>T, XM_017012958.2:c.-72C>T, XM_017012958.1:c.-72C>T, NM_001279356.2:c.36C>T, NM_001279356.1:c.36C>T, XM_047421228.1:c.-66C>T, XM_047421225.1:c.36C>T

Select item 143678325712.

rs1436783257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54065796 (GRCh38)
8:54978356 (GRCh37)
Canonical SPDI:: NC_000008.11:54065795:G:A
Gene:: LYPLA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.54065796G>A, NC_000008.10:g.54978356G>A, XM_005251127.6:c.12C>T, XM_005251127.5:c.12C>T, XM_005251127.4:c.12C>T, XM_005251127.3:c.12C>T, XM_005251127.2:c.12C>T, XM_005251127.1:c.12C>T, NM_006330.4:c.119C>T, NM_006330.3:c.119C>T, NM_001279359.2:c.12C>T, NM_001279359.1:c.12C>T, NM_001279358.2:c.119C>T, NM_001279358.1:c.119C>T, NM_001279357.2:c.119C>T, NM_001279357.1:c.119C>T, NM_001279360.2:c.-74C>T, NM_001279360.1:c.-74C>T, XM_017012958.2:c.12C>T, XM_017012958.1:c.12C>T, NM_001279356.2:c.119C>T, NM_001279356.1:c.119C>T, XM_047421228.1:c.230C>T, XM_047421223.1:c.230C>T, XM_047421224.1:c.230C>T, XM_047421227.1:c.-74C>T, XM_047421226.1:c.12C>T, NP_006321.1:p.Ala40Val, NP_001266287.1:p.Ala40Val, NP_001266286.1:p.Ala40Val, NP_001266285.1:p.Ala40Val, XP_047277184.1:p.Ala77Val, XP_047277179.1:p.Ala77Val, XP_047277180.1:p.Ala77Val

Select item 143008945613.

rs1430089456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:54055115 (GRCh38)
8:54967675 (GRCh37)
Canonical SPDI:: NC_000008.11:54055114:T:C
Gene:: LYPLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.54055115T>C, NC_000008.10:g.54967675T>C, XM_005251127.6:c.158A>G, XM_005251127.5:c.158A>G, XM_005251127.4:c.158A>G, XM_005251127.3:c.158A>G, XM_005251127.2:c.158A>G, XM_005251127.1:c.158A>G, NM_006330.4:c.305A>G, NM_006330.3:c.305A>G, XM_017012956.3:c.239A>G, XM_017012956.2:c.239A>G, XM_017012956.1:c.239A>G, NM_001279359.2:c.158A>G, NM_001279359.1:c.158A>G, NM_001279358.2:c.305A>G, NM_001279358.1:c.305A>G, NM_001279357.2:c.257A>G, NM_001279357.1:c.257A>G, NM_001279360.2:c.113A>G, NM_001279360.1:c.113A>G, XM_017012958.2:c.158A>G, XM_017012958.1:c.158A>G, NM_001279356.2:c.305A>G, NM_001279356.1:c.305A>G, XM_017012960.2:c.113A>G, XM_017012960.1:c.113A>G, XM_047421228.1:c.416A>G, XM_047421223.1:c.416A>G, XM_047421224.1:c.416A>G, XM_047421227.1:c.113A>G, XM_047421226.1:c.158A>G, XM_047421225.1:c.239A>G, XP_005251184.1:p.Gln53Arg, NP_006321.1:p.Gln102Arg, XP_016868445.1:p.Gln80Arg, NP_001266288.1:p.Gln53Arg, NP_001266287.1:p.Gln102Arg, NP_001266286.1:p.Gln86Arg, NP_001266289.1:p.Gln38Arg, XP_016868447.1:p.Gln53Arg, NP_001266285.1:p.Gln102Arg, XP_016868449.1:p.Gln38Arg, XP_047277184.1:p.Gln139Arg, XP_047277179.1:p.Gln139Arg, XP_047277180.1:p.Gln139Arg, XP_047277183.1:p.Gln38Arg, XP_047277182.1:p.Gln53Arg, XP_047277181.1:p.Gln80Arg

Select item 142787532814.

rs1427875328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54062269 (GRCh38)
8:54974829 (GRCh37)
Canonical SPDI:: NC_000008.11:54062268:G:A
Gene:: LYPLA1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.54062269G>A, NC_000008.10:g.54974829G>A, XM_005251127.6:c.124C>T, XM_005251127.5:c.124C>T, XM_005251127.4:c.124C>T, XM_005251127.3:c.124C>T, XM_005251127.2:c.124C>T, XM_005251127.1:c.124C>T, NM_006330.4:c.271C>T, NM_006330.3:c.271C>T, XM_017012956.3:c.205C>T, XM_017012956.2:c.205C>T, XM_017012956.1:c.205C>T, NM_001279359.2:c.124C>T, NM_001279359.1:c.124C>T, NM_001279358.2:c.271C>T, NM_001279358.1:c.271C>T, NM_001279357.2:c.223C>T, NM_001279357.1:c.223C>T, NM_001279360.2:c.79C>T, NM_001279360.1:c.79C>T, XM_017012958.2:c.124C>T, XM_017012958.1:c.124C>T, NM_001279356.2:c.271C>T, NM_001279356.1:c.271C>T, XM_017012960.2:c.79C>T, XM_017012960.1:c.79C>T, XM_047421228.1:c.382C>T, XM_047421223.1:c.382C>T, XM_047421224.1:c.382C>T, XM_047421227.1:c.79C>T, XM_047421226.1:c.124C>T, XM_047421225.1:c.205C>T, XP_005251184.1:p.Gln42Ter, NP_006321.1:p.Gln91Ter, XP_016868445.1:p.Gln69Ter, NP_001266288.1:p.Gln42Ter, NP_001266287.1:p.Gln91Ter, NP_001266286.1:p.Gln75Ter, NP_001266289.1:p.Gln27Ter, XP_016868447.1:p.Gln42Ter, NP_001266285.1:p.Gln91Ter, XP_016868449.1:p.Gln27Ter, XP_047277184.1:p.Gln128Ter, XP_047277179.1:p.Gln128Ter, XP_047277180.1:p.Gln128Ter, XP_047277183.1:p.Gln27Ter, XP_047277182.1:p.Gln42Ter, XP_047277181.1:p.Gln69Ter

Select item 142579019815.

rs1425790198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:54062303 (GRCh38)
8:54974863 (GRCh37)
Canonical SPDI:: NC_000008.11:54062302:T:C
Gene:: LYPLA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000008.11:g.54062303T>C, NC_000008.10:g.54974863T>C, XM_005251127.6:c.90A>G, XM_005251127.5:c.90A>G, XM_005251127.4:c.90A>G, XM_005251127.3:c.90A>G, XM_005251127.2:c.90A>G, XM_005251127.1:c.90A>G, NM_006330.4:c.237A>G, NM_006330.3:c.237A>G, XM_017012956.3:c.171A>G, XM_017012956.2:c.171A>G, XM_017012956.1:c.171A>G, NM_001279359.2:c.90A>G, NM_001279359.1:c.90A>G, NM_001279358.2:c.237A>G, NM_001279358.1:c.237A>G, NM_001279357.2:c.189A>G, NM_001279357.1:c.189A>G, NM_001279360.2:c.45A>G, NM_001279360.1:c.45A>G, XM_017012958.2:c.90A>G, XM_017012958.1:c.90A>G, NM_001279356.2:c.237A>G, NM_001279356.1:c.237A>G, XM_017012960.2:c.45A>G, XM_017012960.1:c.45A>G, XM_047421228.1:c.348A>G, XM_047421223.1:c.348A>G, XM_047421224.1:c.348A>G, XM_047421227.1:c.45A>G, XM_047421226.1:c.90A>G, XM_047421225.1:c.171A>G

Select item 142118889616.

rs1421188896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:54055112 (GRCh38)
8:54967672 (GRCh37)
Canonical SPDI:: NC_000008.11:54055111:T:C
Gene:: LYPLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.54055112T>C, NC_000008.10:g.54967672T>C, XM_005251127.6:c.161A>G, XM_005251127.5:c.161A>G, XM_005251127.4:c.161A>G, XM_005251127.3:c.161A>G, XM_005251127.2:c.161A>G, XM_005251127.1:c.161A>G, NM_006330.4:c.308A>G, NM_006330.3:c.308A>G, XM_017012956.3:c.242A>G, XM_017012956.2:c.242A>G, XM_017012956.1:c.242A>G, NM_001279359.2:c.161A>G, NM_001279359.1:c.161A>G, NM_001279358.2:c.308A>G, NM_001279358.1:c.308A>G, NM_001279357.2:c.260A>G, NM_001279357.1:c.260A>G, NM_001279360.2:c.116A>G, NM_001279360.1:c.116A>G, XM_017012958.2:c.161A>G, XM_017012958.1:c.161A>G, NM_001279356.2:c.308A>G, NM_001279356.1:c.308A>G, XM_017012960.2:c.116A>G, XM_017012960.1:c.116A>G, XM_047421228.1:c.419A>G, XM_047421223.1:c.419A>G, XM_047421224.1:c.419A>G, XM_047421227.1:c.116A>G, XM_047421226.1:c.161A>G, XM_047421225.1:c.242A>G, XP_005251184.1:p.Glu54Gly, NP_006321.1:p.Glu103Gly, XP_016868445.1:p.Glu81Gly, NP_001266288.1:p.Glu54Gly, NP_001266287.1:p.Glu103Gly, NP_001266286.1:p.Glu87Gly, NP_001266289.1:p.Glu39Gly, XP_016868447.1:p.Glu54Gly, NP_001266285.1:p.Glu103Gly, XP_016868449.1:p.Glu39Gly, XP_047277184.1:p.Glu140Gly, XP_047277179.1:p.Glu140Gly, XP_047277180.1:p.Glu140Gly, XP_047277183.1:p.Glu39Gly, XP_047277182.1:p.Glu54Gly, XP_047277181.1:p.Glu81Gly

Select item 141574504317.

rs1415745043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:54100914 (GRCh38)
8:55013474 (GRCh37)
Canonical SPDI:: NC_000008.11:54100913:T:G
Gene:: LYPLA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.54100914T>G, NC_000008.10:g.55013474T>G, XM_005251127.6:c.-13A>C, XM_005251127.5:c.-13A>C, XM_005251127.4:c.-13A>C, XM_005251127.3:c.-13A>C, XM_005251127.2:c.-13A>C, XM_005251127.1:c.-13A>C, NM_006330.4:c.95A>C, NM_006330.3:c.95A>C, XM_017012956.3:c.95A>C, XM_017012956.2:c.95A>C, XM_017012956.1:c.95A>C, NM_001279359.2:c.-13A>C, NM_001279359.1:c.-13A>C, NM_001279358.2:c.95A>C, NM_001279358.1:c.95A>C, NM_001279357.2:c.95A>C, NM_001279357.1:c.95A>C, NM_001279360.2:c.-98A>C, NM_001279360.1:c.-98A>C, XM_017012958.2:c.-13A>C, XM_017012958.1:c.-13A>C, NM_001279356.2:c.95A>C, NM_001279356.1:c.95A>C, XM_017012960.2:c.-32A>C, XM_017012960.1:c.-32A>C, XM_047421228.1:c.-7A>C, XM_047421223.1:c.-7A>C, XM_047421224.1:c.-7A>C, XM_047421227.1:c.-175A>C, XM_047421226.1:c.-90A>C, XM_047421225.1:c.95A>C, NP_006321.1:p.Asp32Ala, XP_016868445.1:p.Asp32Ala, NP_001266287.1:p.Asp32Ala, NP_001266286.1:p.Asp32Ala, NP_001266285.1:p.Asp32Ala, XP_047277181.1:p.Asp32Ala

Select item 141176946218.

rs1411769462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:54062294 (GRCh38)
8:54974854 (GRCh37)
Canonical SPDI:: NC_000008.11:54062293:T:G
Gene:: LYPLA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.54062294T>G, NC_000008.10:g.54974854T>G, XM_005251127.6:c.99A>C, XM_005251127.5:c.99A>C, XM_005251127.4:c.99A>C, XM_005251127.3:c.99A>C, XM_005251127.2:c.99A>C, XM_005251127.1:c.99A>C, NM_006330.4:c.246A>C, NM_006330.3:c.246A>C, XM_017012956.3:c.180A>C, XM_017012956.2:c.180A>C, XM_017012956.1:c.180A>C, NM_001279359.2:c.99A>C, NM_001279359.1:c.99A>C, NM_001279358.2:c.246A>C, NM_001279358.1:c.246A>C, NM_001279357.2:c.198A>C, NM_001279357.1:c.198A>C, NM_001279360.2:c.54A>C, NM_001279360.1:c.54A>C, XM_017012958.2:c.99A>C, XM_017012958.1:c.99A>C, NM_001279356.2:c.246A>C, NM_001279356.1:c.246A>C, XM_017012960.2:c.54A>C, XM_017012960.1:c.54A>C, XM_047421228.1:c.357A>C, XM_047421223.1:c.357A>C, XM_047421224.1:c.357A>C, XM_047421227.1:c.54A>C, XM_047421226.1:c.99A>C, XM_047421225.1:c.180A>C

Select item 140492352719.

rs1404923527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54051185 (GRCh38)
8:54963745 (GRCh37)
Canonical SPDI:: NC_000008.11:54051184:G:A
Gene:: LYPLA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.54051185G>A, NC_000008.10:g.54963745G>A, XM_005251127.6:c.319C>T, XM_005251127.5:c.319C>T, XM_005251127.4:c.319C>T, XM_005251127.3:c.319C>T, XM_005251127.2:c.319C>T, XM_005251127.1:c.319C>T, NM_006330.4:c.466C>T, NM_006330.3:c.466C>T, XM_017012956.3:c.400C>T, XM_017012956.2:c.400C>T, XM_017012956.1:c.400C>T, NM_001279359.2:c.319C>T, NM_001279359.1:c.319C>T, NM_001279357.2:c.418C>T, NM_001279357.1:c.418C>T, NM_001279360.2:c.274C>T, NM_001279360.1:c.274C>T, NM_001279356.2:c.364C>T, NM_001279356.1:c.364C>T, XM_017012960.2:c.274C>T, XM_017012960.1:c.274C>T, XM_047421228.1:c.577C>T, XM_047421223.1:c.577C>T, XM_047421227.1:c.274C>T, XM_047421226.1:c.319C>T, XP_005251184.1:p.Pro107Ser, NP_006321.1:p.Pro156Ser, XP_016868445.1:p.Pro134Ser, NP_001266288.1:p.Pro107Ser, NP_001266286.1:p.Pro140Ser, NP_001266289.1:p.Pro92Ser, NP_001266285.1:p.Pro122Ser, XP_016868449.1:p.Pro92Ser, XP_047277184.1:p.Pro193Ser, XP_047277179.1:p.Pro193Ser, XP_047277183.1:p.Pro92Ser, XP_047277182.1:p.Pro107Ser

Select item 140211882120.

rs1402118821 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 8:54101812 (GRCh38)
8:55014372 (GRCh37)
Canonical SPDI:: NC_000008.11:54101811:A:
Gene:: LYPLA1 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.54101812del, NC_000008.10:g.55014372del, NM_006330.4:c.12del, NM_006330.3:c.12del, XM_017012956.3:c.12del, XM_017012956.2:c.12del, XM_017012956.1:c.12del, NM_001279359.2:c.-96del, NM_001279359.1:c.-96del, NM_001279358.2:c.12del, NM_001279358.1:c.12del, NM_001279357.2:c.12del, NM_001279357.1:c.12del, XM_017012958.2:c.-96del, XM_017012958.1:c.-96del, NM_001279356.2:c.12del, NM_001279356.1:c.12del, XM_047421228.1:c.-90del, XM_047421225.1:c.12del, NP_006321.1:p.Asn4fs, XP_016868445.1:p.Asn4fs, NP_001266287.1:p.Asn4fs, NP_001266286.1:p.Asn4fs, NP_001266285.1:p.Asn4fs, XP_047277181.1:p.Asn4fs

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