SNP Links for Protein (Select 663071085) - SNP

Links from Protein

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Select item 14852315201.

rs1485231520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83427584 (GRCh38)
4:84348737 (GRCh37)
Canonical SPDI:: NC_000004.12:83427583:A:G
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.83427584A>G, NC_000004.11:g.84348737A>G, NM_133636.5:c.2655T>C, NM_133636.4:c.2655T>C, NM_133636.3:c.2655T>C, NM_133636.2:c.2655T>C, NM_001297756.2:c.1164T>C, NM_001297756.1:c.1164T>C, NM_001297757.2:c.1023T>C, NM_001297757.1:c.1023T>C, NM_001297755.2:c.2454T>C, NM_001297755.1:c.2454T>C

Select item 14828411652.

rs1482841165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:83407506 (GRCh38)
4:84328659 (GRCh37)
Canonical SPDI:: NC_000004.12:83407505:T:G
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83407506T>G, NC_000004.11:g.84328659T>G, NM_133636.5:c.3253A>C, NM_133636.4:c.3253A>C, NM_133636.3:c.3253A>C, NM_133636.2:c.3253A>C, NM_001297756.2:c.1762A>C, NM_001297756.1:c.1762A>C, NM_001297757.2:c.1621A>C, NM_001297757.1:c.1621A>C, NM_001297755.2:c.3052A>C, NM_001297755.1:c.3052A>C

Select item 14748655473.

rs1474865547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83437094 (GRCh38)
4:84358247 (GRCh37)
Canonical SPDI:: NC_000004.12:83437093:T:C
Gene:: HELQ (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.83437094T>C, NC_000004.11:g.84358247T>C, NM_133636.5:c.1812A>G, NM_133636.4:c.1812A>G, NM_133636.3:c.1812A>G, NM_133636.2:c.1812A>G, NM_001297756.2:c.321A>G, NM_001297756.1:c.321A>G, NM_001297757.2:c.180A>G, NM_001297757.1:c.180A>G, NM_001297755.2:c.1611A>G, NM_001297755.1:c.1611A>G

Select item 14744491964.

rs1474449196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:83432158 (GRCh38)
4:84353311 (GRCh37)
Canonical SPDI:: NC_000004.12:83432157:T:C,NC_000004.12:83432157:T:G
Gene:: HELQ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83432158T>C, NC_000004.12:g.83432158T>G, NC_000004.11:g.84353311T>C, NC_000004.11:g.84353311T>G, NM_133636.5:c.2158A>G, NM_133636.5:c.2158A>C, NM_133636.4:c.2158A>G, NM_133636.4:c.2158A>C, NM_133636.3:c.2158A>G, NM_133636.3:c.2158A>C, NM_133636.2:c.2158A>G, NM_133636.2:c.2158A>C, NM_001297756.2:c.667A>G, NM_001297756.2:c.667A>C, NM_001297756.1:c.667A>G, NM_001297756.1:c.667A>C, NM_001297757.2:c.526A>G, NM_001297757.2:c.526A>C, NM_001297757.1:c.526A>G, NM_001297757.1:c.526A>C, NM_001297755.2:c.1957A>G, NM_001297755.2:c.1957A>C, NM_001297755.1:c.1957A>G, NM_001297755.1:c.1957A>C, NP_598375.3:p.Ile720Val, NP_598375.3:p.Ile720Leu, NP_001284685.1:p.Ile223Val, NP_001284685.1:p.Ile223Leu, NP_001284686.1:p.Ile176Val, NP_001284686.1:p.Ile176Leu, NP_001284684.2:p.Ile653Val, NP_001284684.2:p.Ile653Leu

Select item 14734074025.

rs1473407402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83416857 (GRCh38)
4:84338010 (GRCh37)
Canonical SPDI:: NC_000004.12:83416856:T:C
Gene:: HELQ (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000004.12:g.83416857T>C, NC_000004.11:g.84338010T>C, NM_133636.5:c.3072A>G, NM_133636.4:c.3072A>G, NM_133636.3:c.3072A>G, NM_133636.2:c.3072A>G, NM_001297756.2:c.1581A>G, NM_001297756.1:c.1581A>G, NM_001297757.2:c.1440A>G, NM_001297757.1:c.1440A>G, NM_001297755.2:c.2871A>G, NM_001297755.1:c.2871A>G

Select item 14732625826.

rs1473262582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83416734 (GRCh38)
4:84337887 (GRCh37)
Canonical SPDI:: NC_000004.12:83416733:T:C
Gene:: HELQ (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000004.12:g.83416734T>C, NC_000004.11:g.84337887T>C, NM_133636.5:c.3195A>G, NM_133636.4:c.3195A>G, NM_133636.3:c.3195A>G, NM_133636.2:c.3195A>G, NM_001297756.2:c.1704A>G, NM_001297756.1:c.1704A>G, NM_001297757.2:c.1563A>G, NM_001297757.1:c.1563A>G, NM_001297755.2:c.2994A>G, NM_001297755.1:c.2994A>G

Select item 14725256827.

rs1472525682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83436975 (GRCh38)
4:84358128 (GRCh37)
Canonical SPDI:: NC_000004.12:83436974:T:C
Gene:: HELQ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.83436975T>C, NC_000004.11:g.84358128T>C, NM_133636.5:c.1931A>G, NM_133636.4:c.1931A>G, NM_133636.3:c.1931A>G, NM_133636.2:c.1931A>G, NM_001297756.2:c.440A>G, NM_001297756.1:c.440A>G, NM_001297757.2:c.299A>G, NM_001297757.1:c.299A>G, NM_001297755.2:c.1730A>G, NM_001297755.1:c.1730A>G, NP_598375.3:p.His644Arg, NP_001284685.1:p.His147Arg, NP_001284686.1:p.His100Arg, NP_001284684.2:p.His577Arg

Select item 14665598288.

rs1466559828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:83427615 (GRCh38)
4:84348768 (GRCh37)
Canonical SPDI:: NC_000004.12:83427614:G:C
Gene:: HELQ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.83427615G>C, NC_000004.11:g.84348768G>C, NM_133636.5:c.2624C>G, NM_133636.4:c.2624C>G, NM_133636.3:c.2624C>G, NM_133636.2:c.2624C>G, NM_001297756.2:c.1133C>G, NM_001297756.1:c.1133C>G, NM_001297757.2:c.992C>G, NM_001297757.1:c.992C>G, NM_001297755.2:c.2423C>G, NM_001297755.1:c.2423C>G, NP_598375.3:p.Pro875Arg, NP_001284685.1:p.Pro378Arg, NP_001284686.1:p.Pro331Arg, NP_001284684.2:p.Pro808Arg

Select item 14639909179.

rs1463990917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:83421626 (GRCh38)
4:84342779 (GRCh37)
Canonical SPDI:: NC_000004.12:83421625:T:A,NC_000004.12:83421625:T:C
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.83421626T>A, NC_000004.12:g.83421626T>C, NC_000004.11:g.84342779T>A, NC_000004.11:g.84342779T>C, NM_133636.5:c.2886A>T, NM_133636.5:c.2886A>G, NM_133636.4:c.2886A>T, NM_133636.4:c.2886A>G, NM_133636.3:c.2886A>T, NM_133636.3:c.2886A>G, NM_133636.2:c.2886A>T, NM_133636.2:c.2886A>G, NM_001297756.2:c.1395A>T, NM_001297756.2:c.1395A>G, NM_001297756.1:c.1395A>T, NM_001297756.1:c.1395A>G, NM_001297757.2:c.1254A>T, NM_001297757.2:c.1254A>G, NM_001297757.1:c.1254A>T, NM_001297757.1:c.1254A>G, NM_001297755.2:c.2685A>T, NM_001297755.2:c.2685A>G, NM_001297755.1:c.2685A>T, NM_001297755.1:c.2685A>G

Select item 146355466410.

rs1463554664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83429675 (GRCh38)
4:84350828 (GRCh37)
Canonical SPDI:: NC_000004.12:83429674:T:C
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83429675T>C, NC_000004.11:g.84350828T>C, NM_133636.5:c.2367A>G, NM_133636.4:c.2367A>G, NM_133636.3:c.2367A>G, NM_133636.2:c.2367A>G, NM_001297756.2:c.876A>G, NM_001297756.1:c.876A>G, NM_001297757.2:c.735A>G, NM_001297757.1:c.735A>G, NM_001297755.2:c.2166A>G, NM_001297755.1:c.2166A>G

Select item 146322448711.

rs1463224487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83407532 (GRCh38)
4:84328685 (GRCh37)
Canonical SPDI:: NC_000004.12:83407531:A:G
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.83407532A>G, NC_000004.11:g.84328685A>G, NM_133636.5:c.3227T>C, NM_133636.4:c.3227T>C, NM_133636.3:c.3227T>C, NM_133636.2:c.3227T>C, NM_001297756.2:c.1736T>C, NM_001297756.1:c.1736T>C, NM_001297757.2:c.1595T>C, NM_001297757.1:c.1595T>C, NM_001297755.2:c.3026T>C, NM_001297755.1:c.3026T>C, NP_598375.3:p.Leu1076Pro, NP_001284685.1:p.Leu579Pro, NP_001284686.1:p.Leu532Pro, NP_001284684.2:p.Leu1009Pro

Select item 146249375512.

rs1462493755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83407536 (GRCh38)
4:84328689 (GRCh37)
Canonical SPDI:: NC_000004.12:83407535:C:T
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83407536C>T, NC_000004.11:g.84328689C>T, NM_133636.5:c.3223G>A, NM_133636.4:c.3223G>A, NM_133636.3:c.3223G>A, NM_133636.2:c.3223G>A, NM_001297756.2:c.1732G>A, NM_001297756.1:c.1732G>A, NM_001297757.2:c.1591G>A, NM_001297757.1:c.1591G>A, NM_001297755.2:c.3022G>A, NM_001297755.1:c.3022G>A, NP_598375.3:p.Ala1075Thr, NP_001284685.1:p.Ala578Thr, NP_001284686.1:p.Ala531Thr, NP_001284684.2:p.Ala1008Thr

Select item 146193314913.

rs1461933149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83436958 (GRCh38)
4:84358111 (GRCh37)
Canonical SPDI:: NC_000004.12:83436957:C:T
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83436958C>T, NC_000004.11:g.84358111C>T, NM_133636.5:c.1948G>A, NM_133636.4:c.1948G>A, NM_133636.3:c.1948G>A, NM_133636.2:c.1948G>A, NM_001297756.2:c.457G>A, NM_001297756.1:c.457G>A, NM_001297757.2:c.316G>A, NM_001297757.1:c.316G>A, NM_001297755.2:c.1747G>A, NM_001297755.1:c.1747G>A, NP_598375.3:p.Asp650Asn, NP_001284685.1:p.Asp153Asn, NP_001284686.1:p.Asp106Asn, NP_001284684.2:p.Asp583Asn

Select item 146170435814.

rs1461704358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83421667 (GRCh38)
4:84342820 (GRCh37)
Canonical SPDI:: NC_000004.12:83421666:T:C
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000895/4 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000004.12:g.83421667T>C, NC_000004.11:g.84342820T>C, NM_133636.5:c.2845A>G, NM_133636.4:c.2845A>G, NM_133636.3:c.2845A>G, NM_133636.2:c.2845A>G, NM_001297756.2:c.1354A>G, NM_001297756.1:c.1354A>G, NM_001297757.2:c.1213A>G, NM_001297757.1:c.1213A>G, NM_001297755.2:c.2644A>G, NM_001297755.1:c.2644A>G, NP_598375.3:p.Asn949Asp, NP_001284685.1:p.Asn452Asp, NP_001284686.1:p.Asn405Asp, NP_001284684.2:p.Asn882Asp

Select item 146152769715.

rs1461527697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83416802 (GRCh38)
4:84337955 (GRCh37)
Canonical SPDI:: NC_000004.12:83416801:G:A
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.83416802G>A, NC_000004.11:g.84337955G>A, NM_133636.5:c.3127C>T, NM_133636.4:c.3127C>T, NM_133636.3:c.3127C>T, NM_133636.2:c.3127C>T, NM_001297756.2:c.1636C>T, NM_001297756.1:c.1636C>T, NM_001297757.2:c.1495C>T, NM_001297757.1:c.1495C>T, NM_001297755.2:c.2926C>T, NM_001297755.1:c.2926C>T, NP_598375.3:p.Pro1043Ser, NP_001284685.1:p.Pro546Ser, NP_001284686.1:p.Pro499Ser, NP_001284684.2:p.Pro976Ser

Select item 146090419816.

rs1460904198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:83429630 (GRCh38)
4:84350783 (GRCh37)
Canonical SPDI:: NC_000004.12:83429629:T:A,NC_000004.12:83429629:T:C
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.83429630T>A, NC_000004.12:g.83429630T>C, NC_000004.11:g.84350783T>A, NC_000004.11:g.84350783T>C, NM_133636.5:c.2412A>T, NM_133636.5:c.2412A>G, NM_133636.4:c.2412A>T, NM_133636.4:c.2412A>G, NM_133636.3:c.2412A>T, NM_133636.3:c.2412A>G, NM_133636.2:c.2412A>T, NM_133636.2:c.2412A>G, NM_001297756.2:c.921A>T, NM_001297756.2:c.921A>G, NM_001297756.1:c.921A>T, NM_001297756.1:c.921A>G, NM_001297757.2:c.780A>T, NM_001297757.2:c.780A>G, NM_001297757.1:c.780A>T, NM_001297757.1:c.780A>G, NM_001297755.2:c.2211A>T, NM_001297755.2:c.2211A>G, NM_001297755.1:c.2211A>T, NM_001297755.1:c.2211A>G, NP_598375.3:p.Arg804Ser, NP_001284685.1:p.Arg307Ser, NP_001284686.1:p.Arg260Ser, NP_001284684.2:p.Arg737Ser

Select item 146075355617.

rs1460753556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83429707 (GRCh38)
4:84350860 (GRCh37)
Canonical SPDI:: NC_000004.12:83429706:C:T
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83429707C>T, NC_000004.11:g.84350860C>T, NM_133636.5:c.2335G>A, NM_133636.4:c.2335G>A, NM_133636.3:c.2335G>A, NM_133636.2:c.2335G>A, NM_001297756.2:c.844G>A, NM_001297756.1:c.844G>A, NM_001297757.2:c.703G>A, NM_001297757.1:c.703G>A, NM_001297755.2:c.2134G>A, NM_001297755.1:c.2134G>A, NP_598375.3:p.Gly779Ser, NP_001284685.1:p.Gly282Ser, NP_001284686.1:p.Gly235Ser, NP_001284684.2:p.Gly712Ser

Select item 145991356018.

rs1459913560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:83439937 (GRCh38)
4:84361090 (GRCh37)
Canonical SPDI:: NC_000004.12:83439936:A:T
Gene:: HELQ (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.83439937A>T, NC_000004.11:g.84361090A>T, NM_133636.5:c.1734T>A, NM_133636.4:c.1734T>A, NM_133636.3:c.1734T>A, NM_133636.2:c.1734T>A, NM_001297756.2:c.243T>A, NM_001297756.1:c.243T>A, NM_001297757.2:c.102T>A, NM_001297757.1:c.102T>A, NM_001297755.2:c.1533T>A, NM_001297755.1:c.1533T>A, NP_598375.3:p.Tyr578Ter, NP_001284685.1:p.Tyr81Ter, NP_001284686.1:p.Tyr34Ter, NP_001284684.2:p.Tyr511Ter

Select item 145918555519.

rs1459185555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83427607 (GRCh38)
4:84348760 (GRCh37)
Canonical SPDI:: NC_000004.12:83427606:G:A
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83427607G>A, NC_000004.11:g.84348760G>A, NM_133636.5:c.2632C>T, NM_133636.4:c.2632C>T, NM_133636.3:c.2632C>T, NM_133636.2:c.2632C>T, NM_001297756.2:c.1141C>T, NM_001297756.1:c.1141C>T, NM_001297757.2:c.1000C>T, NM_001297757.1:c.1000C>T, NM_001297755.2:c.2431C>T, NM_001297755.1:c.2431C>T

Select item 145521059520.

rs1455210595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:83439882 (GRCh38)
4:84361035 (GRCh37)
Canonical SPDI:: NC_000004.12:83439881:T:G
Gene:: HELQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83439882T>G, NC_000004.11:g.84361035T>G, NM_133636.5:c.1789A>C, NM_133636.4:c.1789A>C, NM_133636.3:c.1789A>C, NM_133636.2:c.1789A>C, NM_001297756.2:c.298A>C, NM_001297756.1:c.298A>C, NM_001297757.2:c.157A>C, NM_001297757.1:c.157A>C, NM_001297755.2:c.1588A>C, NM_001297755.1:c.1588A>C, NP_598375.3:p.Ile597Leu, NP_001284685.1:p.Ile100Leu, NP_001284686.1:p.Ile53Leu, NP_001284684.2:p.Ile530Leu

dbSNP

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