SNP Links for Protein (Select 81230485) - SNP

Links from Protein

Items: 1 to 20 of 407

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Select item 14899861681.

rs1489986168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73537674 (GRCh38)
14:74004378 (GRCh37)
Canonical SPDI:: NC_000014.9:73537673:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73537674G>A, NC_000014.8:g.74004378G>A, NM_001037161.2:c.253G>A, NM_001037161.1:c.253G>A, NP_001032238.1:p.Glu85Lys

Select item 14871694752.

rs1487169475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73537789 (GRCh38)
14:74004493 (GRCh37)
Canonical SPDI:: NC_000014.9:73537788:T:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
HGVS:: NC_000014.9:g.73537789T>C, NC_000014.8:g.74004493T>C, NM_001037161.2:c.368T>C, NM_001037161.1:c.368T>C, NP_001032238.1:p.Val123Ala

Select item 14843081313.

rs1484308131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:73543273 (GRCh38)
14:74009977 (GRCh37)
Canonical SPDI:: NC_000014.9:73543272:T:G
Gene:: HEATR4 (Varview), ACOT1 (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.73543273T>G, NC_000014.8:g.74009977T>G, XM_017021590.2:c.515T>G, XM_017021590.1:c.515T>G, NM_001037161.2:c.884T>G, NM_001037161.1:c.884T>G, XM_017021589.2:c.533T>G, XM_017021589.1:c.533T>G, XP_016877079.1:p.Val172Gly, NP_001032238.1:p.Val295Gly, XP_016877078.1:p.Val178Gly

Select item 14832785864.

rs1483278586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73537547 (GRCh38)
14:74004251 (GRCh37)
Canonical SPDI:: NC_000014.9:73537546:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.73537547G>A, NC_000014.8:g.74004251G>A, NM_001037161.2:c.126G>A, NM_001037161.1:c.126G>A

Select item 14797612625.

rs1479761262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:73537612 (GRCh38)
14:74004316 (GRCh37)
Canonical SPDI:: NC_000014.9:73537611:G:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.73537612G>T, NC_000014.8:g.74004316G>T, NM_001037161.2:c.191G>T, NM_001037161.1:c.191G>T, NP_001032238.1:p.Arg64Leu

Select item 14788870326.

rs1478887032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73537790 (GRCh38)
14:74004494 (GRCh37)
Canonical SPDI:: NC_000014.9:73537789:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000014.9:g.73537790G>A, NC_000014.8:g.74004494G>A, NM_001037161.2:c.369G>A, NM_001037161.1:c.369G>A

Select item 14788043727.

rs1478804372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73543500 (GRCh38)
14:74010204 (GRCh37)
Canonical SPDI:: NC_000014.9:73543499:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.73543500C>T, NC_000014.8:g.74010204C>T, XM_017021590.2:c.742C>T, XM_017021590.1:c.742C>T, NM_001037161.2:c.1111C>T, NM_001037161.1:c.1111C>T, XM_017021589.2:c.760C>T, XM_017021589.1:c.760C>T, XP_016877079.1:p.Arg248Trp, NP_001032238.1:p.Arg371Trp, XP_016877078.1:p.Arg254Trp

Select item 14753716948.

rs1475371694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:73541569 (GRCh38)
14:74008273 (GRCh37)
Canonical SPDI:: NC_000014.9:73541568:G:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.73541569G>C, NC_000014.8:g.74008273G>C, XM_017021590.2:c.165G>C, XM_017021590.1:c.165G>C, NM_001037161.2:c.534G>C, NM_001037161.1:c.534G>C, XM_017021589.2:c.183G>C, XM_017021589.1:c.183G>C

Select item 14728935539.

rs1472893553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:73537878 (GRCh38)
14:74004582 (GRCh37)
Canonical SPDI:: NC_000014.9:73537877:G:C,NC_000014.9:73537877:G:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73537878G>C, NC_000014.9:g.73537878G>T, NC_000014.8:g.74004582G>C, NC_000014.8:g.74004582G>T, NM_001037161.2:c.457G>C, NM_001037161.2:c.457G>T, NM_001037161.1:c.457G>C, NM_001037161.1:c.457G>T, NP_001032238.1:p.Glu153Gln, NP_001032238.1:p.Glu153Ter

Select item 147275333810.

rs1472753338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73543619 (GRCh38)
14:74010323 (GRCh37)
Canonical SPDI:: NC_000014.9:73543618:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.73543619G>A, NC_000014.8:g.74010323G>A, XM_017021590.2:c.861G>A, XM_017021590.1:c.861G>A, NM_001037161.2:c.1230G>A, NM_001037161.1:c.1230G>A, XM_017021589.2:c.879G>A, XM_017021589.1:c.879G>A

Select item 147222549911.

rs1472225499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:73543278 (GRCh38)
14:74009982 (GRCh37)
Canonical SPDI:: NC_000014.9:73543277:A:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.73543278A>C, NC_000014.8:g.74009982A>C, XM_017021590.2:c.520A>C, XM_017021590.1:c.520A>C, NM_001037161.2:c.889A>C, NM_001037161.1:c.889A>C, XM_017021589.2:c.538A>C, XM_017021589.1:c.538A>C, XP_016877079.1:p.Asn174His, NP_001032238.1:p.Asn297His, XP_016877078.1:p.Asn180His

Select item 147041776712.

rs1470417767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73543402 (GRCh38)
14:74010106 (GRCh37)
Canonical SPDI:: NC_000014.9:73543401:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73543402C>T, NC_000014.8:g.74010106C>T, XM_017021590.2:c.644C>T, XM_017021590.1:c.644C>T, NM_001037161.2:c.1013C>T, NM_001037161.1:c.1013C>T, XM_017021589.2:c.662C>T, XM_017021589.1:c.662C>T, XP_016877079.1:p.Ala215Val, NP_001032238.1:p.Ala338Val, XP_016877078.1:p.Ala221Val

Select item 146968972713.

rs1469689727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:73543584 (GRCh38)
14:74010288 (GRCh37)
Canonical SPDI:: NC_000014.9:73543583:T:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73543584T>G, NC_000014.8:g.74010288T>G, XM_017021590.2:c.826T>G, XM_017021590.1:c.826T>G, NM_001037161.2:c.1195T>G, NM_001037161.1:c.1195T>G, XM_017021589.2:c.844T>G, XM_017021589.1:c.844T>G, XP_016877079.1:p.Trp276Gly, NP_001032238.1:p.Trp399Gly, XP_016877078.1:p.Trp282Gly

Select item 146870266414.

rs1468702664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:73537873 (GRCh38)
14:74004577 (GRCh37)
Canonical SPDI:: NC_000014.9:73537872:C:A,NC_000014.9:73537872:C:G
Gene:: HEATR4 (Varview), ACOT1 (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)
A=0.000018/2 (GnomAD)
HGVS:: NC_000014.9:g.73537873C>A, NC_000014.9:g.73537873C>G, NC_000014.8:g.74004577C>A, NC_000014.8:g.74004577C>G, NM_001037161.2:c.452C>A, NM_001037161.2:c.452C>G, NM_001037161.1:c.452C>A, NM_001037161.1:c.452C>G, NP_001032238.1:p.Pro151Gln, NP_001032238.1:p.Pro151Arg

Select item 146861631615.

rs1468616316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73537531 (GRCh38)
14:74004235 (GRCh37)
Canonical SPDI:: NC_000014.9:73537530:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.73537531C>T, NC_000014.8:g.74004235C>T, NM_001037161.2:c.110C>T, NM_001037161.1:c.110C>T, NP_001032238.1:p.Ser37Phe

Select item 146647263716.

rs1466472637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:73543487 (GRCh38)
14:74010191 (GRCh37)
Canonical SPDI:: NC_000014.9:73543486:C:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.73543487C>A, NC_000014.8:g.74010191C>A, XM_017021590.2:c.729C>A, XM_017021590.1:c.729C>A, NM_001037161.2:c.1098C>A, NM_001037161.1:c.1098C>A, XM_017021589.2:c.747C>A, XM_017021589.1:c.747C>A, XP_016877079.1:p.Tyr243Ter, NP_001032238.1:p.Tyr366Ter, XP_016877078.1:p.Tyr249Ter

Select item 146341102617.

rs1463411026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73541663 (GRCh38)
14:74008367 (GRCh37)
Canonical SPDI:: NC_000014.9:73541662:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.73541663G>A, NC_000014.8:g.74008367G>A, XM_017021590.2:c.259G>A, XM_017021590.1:c.259G>A, NM_001037161.2:c.628G>A, NM_001037161.1:c.628G>A, XM_017021589.2:c.277G>A, XM_017021589.1:c.277G>A, XP_016877079.1:p.Glu87Lys, NP_001032238.1:p.Glu210Lys, XP_016877078.1:p.Glu93Lys

Select item 146075518318.

rs1460755183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:73537496 (GRCh38)
14:74004200 (GRCh37)
Canonical SPDI:: NC_000014.9:73537495:C:G,NC_000014.9:73537495:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/4 (GnomAD)
HGVS:: NC_000014.9:g.73537496C>G, NC_000014.9:g.73537496C>T, NC_000014.8:g.74004200C>G, NC_000014.8:g.74004200C>T, NM_001037161.2:c.75C>G, NM_001037161.2:c.75C>T, NM_001037161.1:c.75C>G, NM_001037161.1:c.75C>T

Select item 145800210419.

rs1458002104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:73537451 (GRCh38)
14:74004155 (GRCh37)
Canonical SPDI:: NC_000014.9:73537450:G:A,NC_000014.9:73537450:G:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000015/2 (GnomAD_exomes)
C=0.002915/2 (KOREAN)
HGVS:: NC_000014.9:g.73537451G>A, NC_000014.9:g.73537451G>C, NC_000014.8:g.74004155G>A, NC_000014.8:g.74004155G>C, NM_001037161.2:c.30G>A, NM_001037161.2:c.30G>C, NM_001037161.1:c.30G>A, NM_001037161.1:c.30G>C

Select item 145329172820.

rs1453291728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73541543 (GRCh38)
14:74008247 (GRCh37)
Canonical SPDI:: NC_000014.9:73541542:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000014.9:g.73541543C>T, NC_000014.8:g.74008247C>T, XM_017021590.2:c.139C>T, XM_017021590.1:c.139C>T, NM_001037161.2:c.508C>T, NM_001037161.1:c.508C>T, XM_017021589.2:c.157C>T, XM_017021589.1:c.157C>T

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