SNP Links for Protein (Select 81230487) - SNP

Links from Protein

Items: 1 to 20 of 164

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Select item 14837302791.

rs1483730279 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCA [Show Flanks]
Chromosome:: 14:73619431 (GRCh38)
14:74086136 (GRCh37)
Canonical SPDI:: NC_000014.9:73619431:TCA:TCATCA
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TCATCA=0./0 (ALFA)
TCA=0.000004/1 (GnomAD_exomes)
TCA=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73619432_73619434dup, NC_000014.8:g.74086136_74086138dup, NM_001365788.1:c.859_861dup, NM_001365789.1:c.217_219dup, NM_001037162.1:c.217_219dup, NP_001352717.1:p.Ser287dup, NP_001352718.1:p.Ser73dup, NP_001032239.1:p.Ser73dup

Select item 14814449132.

rs1481444913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73619420 (GRCh38)
14:74086124 (GRCh37)
Canonical SPDI:: NC_000014.9:73619419:A:G
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619420A>G, NC_000014.8:g.74086124A>G, NM_001365788.1:c.847A>G, NM_001365789.1:c.205A>G, NM_001037162.1:c.205A>G, NP_001352717.1:p.Lys283Glu, NP_001352718.1:p.Lys69Glu, NP_001032239.1:p.Lys69Glu

Select item 14736732603.

rs1473673260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73619717 (GRCh38)
14:74086421 (GRCh37)
Canonical SPDI:: NC_000014.9:73619716:A:G
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619717A>G, NC_000014.8:g.74086421A>G, NM_001365788.1:c.1144A>G, NM_001365789.1:c.502A>G, NM_001037162.1:c.502A>G, NP_001352717.1:p.Ile382Val, NP_001352718.1:p.Ile168Val, NP_001032239.1:p.Ile168Val

Select item 14710140874.

rs1471014087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73619346 (GRCh38)
14:74086050 (GRCh37)
Canonical SPDI:: NC_000014.9:73619345:T:C
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.73619346T>C, NC_000014.8:g.74086050T>C, NM_001365788.1:c.773T>C, NM_001365789.1:c.131T>C, NM_001037162.1:c.131T>C, NP_001352717.1:p.Val258Ala, NP_001352718.1:p.Val44Ala, NP_001032239.1:p.Val44Ala

Select item 14688576685.

rs1468857668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:73619800 (GRCh38)
14:74086504 (GRCh37)
Canonical SPDI:: NC_000014.9:73619799:T:G
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619800T>G, NC_000014.8:g.74086504T>G, NM_001365788.1:c.1227T>G, NM_001365789.1:c.585T>G, NM_001037162.1:c.585T>G, NP_001352717.1:p.His409Gln, NP_001352718.1:p.His195Gln, NP_001032239.1:p.His195Gln

Select item 14634983566.

rs1463498356 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:73619607 (GRCh38)
14:74086311 (GRCh37)
Canonical SPDI:: NC_000014.9:73619606:A:C
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.73619607A>C, NC_000014.8:g.74086311A>C, NM_001365788.1:c.1034A>C, NM_001365789.1:c.392A>C, NM_001037162.1:c.392A>C, NP_001352717.1:p.His345Pro, NP_001352718.1:p.His131Pro, NP_001032239.1:p.His131Pro

Select item 14612649167.

rs1461264916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:73619354 (GRCh38)
14:74086058 (GRCh37)
Canonical SPDI:: NC_000014.9:73619353:A:C
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619354A>C, NC_000014.8:g.74086058A>C, NM_001365788.1:c.781A>C, NM_001365789.1:c.139A>C, NM_001037162.1:c.139A>C, NP_001352717.1:p.Thr261Pro, NP_001352718.1:p.Thr47Pro, NP_001032239.1:p.Thr47Pro

Select item 14578314788.

rs1457831478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73619260 (GRCh38)
14:74085964 (GRCh37)
Canonical SPDI:: NC_000014.9:73619259:T:C
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619260T>C, NC_000014.8:g.74085964T>C, NM_001365788.1:c.687T>C, NM_001365789.1:c.45T>C, NM_001037162.1:c.45T>C

Select item 14536042989.

rs1453604298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73619563 (GRCh38)
14:74086267 (GRCh37)
Canonical SPDI:: NC_000014.9:73619562:G:A
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619563G>A, NC_000014.8:g.74086267G>A, NM_001365788.1:c.990G>A, NM_001365789.1:c.348G>A, NM_001037162.1:c.348G>A

Select item 145246828110.

rs1452468281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:73619735 (GRCh38)
14:74086439 (GRCh37)
Canonical SPDI:: NC_000014.9:73619734:C:G
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619735C>G, NC_000014.8:g.74086439C>G, NM_001365788.1:c.1162C>G, NM_001365789.1:c.520C>G, NM_001037162.1:c.520C>G, NP_001352717.1:p.Pro388Ala, NP_001352718.1:p.Pro174Ala, NP_001032239.1:p.Pro174Ala

Select item 144928215011.

rs1449282150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73619743 (GRCh38)
14:74086447 (GRCh37)
Canonical SPDI:: NC_000014.9:73619742:T:C
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619743T>C, NC_000014.8:g.74086447T>C, NM_001365788.1:c.1170T>C, NM_001365789.1:c.528T>C, NM_001037162.1:c.528T>C

Select item 141724815812.

rs1417248158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73619576 (GRCh38)
14:74086280 (GRCh37)
Canonical SPDI:: NC_000014.9:73619575:G:A
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73619576G>A, NC_000014.8:g.74086280G>A, NM_001365788.1:c.1003G>A, NM_001365789.1:c.361G>A, NM_001037162.1:c.361G>A, NP_001352717.1:p.Ala335Thr, NP_001352718.1:p.Ala121Thr, NP_001032239.1:p.Ala121Thr

Select item 141201514313.

rs1412015143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73619798 (GRCh38)
14:74086502 (GRCh37)
Canonical SPDI:: NC_000014.9:73619797:C:T
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619798C>T, NC_000014.8:g.74086502C>T, NM_001365788.1:c.1225C>T, NM_001365789.1:c.583C>T, NM_001037162.1:c.583C>T, NP_001352717.1:p.His409Tyr, NP_001352718.1:p.His195Tyr, NP_001032239.1:p.His195Tyr

Select item 141182795014.

rs1411827950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:73619830 (GRCh38)
14:74086534 (GRCh37)
Canonical SPDI:: NC_000014.9:73619829:C:A,NC_000014.9:73619829:C:G,NC_000014.9:73619829:C:T
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0033/6 (Korea1K)
HGVS:: NC_000014.9:g.73619830C>A, NC_000014.9:g.73619830C>G, NC_000014.9:g.73619830C>T, NC_000014.8:g.74086534C>A, NC_000014.8:g.74086534C>G, NC_000014.8:g.74086534C>T, NM_001365788.1:c.1257C>A, NM_001365788.1:c.1257C>G, NM_001365788.1:c.1257C>T, NM_001365789.1:c.615C>A, NM_001365789.1:c.615C>G, NM_001365789.1:c.615C>T, NM_001037162.1:c.615C>A, NM_001037162.1:c.615C>G, NM_001037162.1:c.615C>T, NP_001352717.1:p.Ser419Arg, NP_001352717.1:p.Ser419Arg, NP_001352718.1:p.Ser205Arg, NP_001352718.1:p.Ser205Arg, NP_001032239.1:p.Ser205Arg, NP_001032239.1:p.Ser205Arg

Select item 140998922615.

rs1409989226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73619366 (GRCh38)
14:74086070 (GRCh37)
Canonical SPDI:: NC_000014.9:73619365:C:T
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.73619366C>T, NC_000014.8:g.74086070C>T, NM_001365788.1:c.793C>T, NM_001365789.1:c.151C>T, NM_001037162.1:c.151C>T

Select item 140503731816.

rs1405037318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73619805 (GRCh38)
14:74086509 (GRCh37)
Canonical SPDI:: NC_000014.9:73619804:A:G
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619805A>G, NC_000014.8:g.74086509A>G, NM_001365788.1:c.1232A>G, NM_001365789.1:c.590A>G, NM_001037162.1:c.590A>G, NP_001352717.1:p.Asn411Ser, NP_001352718.1:p.Asn197Ser, NP_001032239.1:p.Asn197Ser

Select item 138999631217.

rs1389996312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73619734 (GRCh38)
14:74086438 (GRCh37)
Canonical SPDI:: NC_000014.9:73619733:G:A
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.73619734G>A, NC_000014.8:g.74086438G>A, NM_001365788.1:c.1161G>A, NM_001365789.1:c.519G>A, NM_001037162.1:c.519G>A

Select item 137213789218.

rs1372137892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73619452 (GRCh38)
14:74086156 (GRCh37)
Canonical SPDI:: NC_000014.9:73619451:G:A
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619452G>A, NC_000014.8:g.74086156G>A, NM_001365788.1:c.879G>A, NM_001365789.1:c.237G>A, NM_001037162.1:c.237G>A, NP_001352717.1:p.Met293Ile, NP_001352718.1:p.Met79Ile, NP_001032239.1:p.Met79Ile

Select item 136067638319.

rs1360676383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:73619519 (GRCh38)
14:74086223 (GRCh37)
Canonical SPDI:: NC_000014.9:73619518:G:A,NC_000014.9:73619518:G:C
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.73619519G>A, NC_000014.9:g.73619519G>C, NC_000014.8:g.74086223G>A, NC_000014.8:g.74086223G>C, NM_001365788.1:c.946G>A, NM_001365788.1:c.946G>C, NM_001365789.1:c.304G>A, NM_001365789.1:c.304G>C, NM_001037162.1:c.304G>A, NM_001037162.1:c.304G>C, NP_001352717.1:p.Val316Met, NP_001352717.1:p.Val316Leu, NP_001352718.1:p.Val102Met, NP_001352718.1:p.Val102Leu, NP_001032239.1:p.Val102Met, NP_001032239.1:p.Val102Leu

Select item 135891824220.

rs1358918242 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:73619670 (GRCh38)
14:74086374 (GRCh37)
Canonical SPDI:: NC_000014.9:73619669:A:
Gene:: HEATR4 (Varview), ACOT6 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73619670del, NC_000014.8:g.74086374del, NM_001365788.1:c.1097del, NM_001365789.1:c.455del, NM_001037162.1:c.455del, NP_001352717.1:p.Tyr366fs, NP_001352718.1:p.Tyr152fs, NP_001032239.1:p.Tyr152fs

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