SNP Links for Protein (Select 226442709) - SNP

Links from Protein

Items: 1 to 20 of 366

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Select item 14867193491.

rs1486719349 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:108759893 (GRCh38)
4:109681049 (GRCh37)
Canonical SPDI:: NC_000004.12:108759892:GGG:GG
Gene:: ETNPPL (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000004.12:g.108759895del, NC_000004.11:g.109681051del, NM_031279.4:c.191del, NM_031279.3:c.191del, NM_001331031.2:c.71del, NM_001331031.1:c.71del, NM_001331032.2:c.71del, NM_001331032.1:c.71del, NM_001146627.2:c.17del, NM_001146627.1:c.17del, NM_001331033.2:c.-29del, NM_001331033.1:c.-29del, NR_027474.1:n.394del, NR_027475.1:n.253del, NP_112569.2:p.Pro64fs, NP_001317960.1:p.Pro24fs, NP_001317961.1:p.Pro24fs, NP_001140099.1:p.Pro6fs

Select item 14845911182.

rs1484591118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:108742599 (GRCh38)
4:109663755 (GRCh37)
Canonical SPDI:: NC_000004.12:108742598:G:A
Gene:: ETNPPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.108742599G>A, NC_000004.11:g.109663755G>A, NM_031279.4:c.1385C>T, NM_031279.3:c.1385C>T, NM_001331031.2:c.1265C>T, NM_001331031.1:c.1265C>T, NM_001331032.2:c.1265C>T, NM_001331032.1:c.1265C>T, NM_001146590.2:c.1367C>T, NM_001146590.1:c.1367C>T, NM_001146627.2:c.1211C>T, NM_001146627.1:c.1211C>T, NM_001331033.2:c.1166C>T, NM_001331033.1:c.1166C>T, NR_027474.1:n.1588C>T, NR_027475.1:n.1447C>T, NP_112569.2:p.Ala462Val, NP_001317960.1:p.Ala422Val, NP_001317961.1:p.Ala422Val, NP_001140062.1:p.Ala456Val, NP_001140099.1:p.Ala404Val, NP_001317962.1:p.Ala389Val

Select item 14807725443.

rs1480772544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:108748062 (GRCh38)
4:109669218 (GRCh37)
Canonical SPDI:: NC_000004.12:108748061:T:C
Gene:: ETNPPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108748062T>C, NC_000004.11:g.109669218T>C, NM_031279.4:c.1025A>G, NM_031279.3:c.1025A>G, NM_001331031.2:c.905A>G, NM_001331031.1:c.905A>G, NM_001331032.2:c.905A>G, NM_001331032.1:c.905A>G, NM_001146590.2:c.1007A>G, NM_001146590.1:c.1007A>G, NM_001146627.2:c.851A>G, NM_001146627.1:c.851A>G, NM_001331033.2:c.806A>G, NM_001331033.1:c.806A>G, NR_027474.1:n.1228A>G, NR_027475.1:n.1087A>G, NP_112569.2:p.Tyr342Cys, NP_001317960.1:p.Tyr302Cys, NP_001317961.1:p.Tyr302Cys, NP_001140062.1:p.Tyr336Cys, NP_001140099.1:p.Tyr284Cys, NP_001317962.1:p.Tyr269Cys

Select item 14801627004.

rs1480162700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:108748155 (GRCh38)
4:109669311 (GRCh37)
Canonical SPDI:: NC_000004.12:108748154:C:A
Gene:: ETNPPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000004.12:g.108748155C>A, NC_000004.11:g.109669311C>A, NM_031279.4:c.932G>T, NM_031279.3:c.932G>T, NM_001331031.2:c.812G>T, NM_001331031.1:c.812G>T, NM_001331032.2:c.812G>T, NM_001331032.1:c.812G>T, NM_001146590.2:c.914G>T, NM_001146590.1:c.914G>T, NM_001146627.2:c.758G>T, NM_001146627.1:c.758G>T, NM_001331033.2:c.713G>T, NM_001331033.1:c.713G>T, NR_027474.1:n.1135G>T, NR_027475.1:n.994G>T, NP_112569.2:p.Gly311Val, NP_001317960.1:p.Gly271Val, NP_001317961.1:p.Gly271Val, NP_001140062.1:p.Gly305Val, NP_001140099.1:p.Gly253Val, NP_001317962.1:p.Gly238Val

Select item 14785123065.

rs1478512306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:108742553 (GRCh38)
4:109663709 (GRCh37)
Canonical SPDI:: NC_000004.12:108742552:A:G
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.108742553A>G, NC_000004.11:g.109663709A>G, NM_031279.4:c.1431T>C, NM_031279.3:c.1431T>C, NM_001331031.2:c.1311T>C, NM_001331031.1:c.1311T>C, NM_001331032.2:c.1311T>C, NM_001331032.1:c.1311T>C, NM_001146590.2:c.1413T>C, NM_001146590.1:c.1413T>C, NM_001146627.2:c.1257T>C, NM_001146627.1:c.1257T>C, NM_001331033.2:c.1212T>C, NM_001331033.1:c.1212T>C, NR_027474.1:n.1634T>C, NR_027475.1:n.1493T>C

Select item 14722499926.

rs1472249992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:108756461 (GRCh38)
4:109677617 (GRCh37)
Canonical SPDI:: NC_000004.12:108756460:C:G
Gene:: ETNPPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.108756461C>G, NC_000004.11:g.109677617C>G, NM_031279.4:c.367G>C, NM_031279.3:c.367G>C, NM_001331031.2:c.247G>C, NM_001331031.1:c.247G>C, NM_001331032.2:c.247G>C, NM_001331032.1:c.247G>C, NM_001146590.2:c.349G>C, NM_001146590.1:c.349G>C, NM_001146627.2:c.193G>C, NM_001146627.1:c.193G>C, NM_001331033.2:c.148G>C, NM_001331033.1:c.148G>C, NR_027474.1:n.570G>C, NR_027475.1:n.429G>C, NP_112569.2:p.Ala123Pro, NP_001317960.1:p.Ala83Pro, NP_001317961.1:p.Ala83Pro, NP_001140062.1:p.Ala117Pro, NP_001140099.1:p.Ala65Pro, NP_001317962.1:p.Ala50Pro

Select item 14633397107.

rs1463339710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:108749417 (GRCh38)
4:109670573 (GRCh37)
Canonical SPDI:: NC_000004.12:108749416:C:T
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108749417C>T, NC_000004.11:g.109670573C>T, NM_031279.4:c.748G>A, NM_031279.3:c.748G>A, NM_001331031.2:c.628G>A, NM_001331031.1:c.628G>A, NM_001331032.2:c.628G>A, NM_001331032.1:c.628G>A, NM_001146590.2:c.730G>A, NM_001146590.1:c.730G>A, NM_001146627.2:c.574G>A, NM_001146627.1:c.574G>A, NM_001331033.2:c.529G>A, NM_001331033.1:c.529G>A, NR_027474.1:n.951G>A, NR_027475.1:n.810G>A, NP_112569.2:p.Val250Met, NP_001317960.1:p.Val210Met, NP_001317961.1:p.Val210Met, NP_001140062.1:p.Val244Met, NP_001140099.1:p.Val192Met, NP_001317962.1:p.Val177Met

Select item 14629647818.

rs1462964781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:108756437 (GRCh38)
4:109677593 (GRCh37)
Canonical SPDI:: NC_000004.12:108756436:C:G
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108756437C>G, NC_000004.11:g.109677593C>G, NM_031279.4:c.391G>C, NM_031279.3:c.391G>C, NM_001331031.2:c.271G>C, NM_001331031.1:c.271G>C, NM_001331032.2:c.271G>C, NM_001331032.1:c.271G>C, NM_001146590.2:c.373G>C, NM_001146590.1:c.373G>C, NM_001146627.2:c.217G>C, NM_001146627.1:c.217G>C, NM_001331033.2:c.172G>C, NM_001331033.1:c.172G>C, NR_027474.1:n.594G>C, NR_027475.1:n.453G>C, NP_112569.2:p.Asp131His, NP_001317960.1:p.Asp91His, NP_001317961.1:p.Asp91His, NP_001140062.1:p.Asp125His, NP_001140099.1:p.Asp73His, NP_001317962.1:p.Asp58His

Select item 14625182019.

rs1462518201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:108759828 (GRCh38)
4:109680984 (GRCh37)
Canonical SPDI:: NC_000004.12:108759827:C:T
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.108759828C>T, NC_000004.11:g.109680984C>T, NM_031279.4:c.256G>A, NM_031279.3:c.256G>A, NM_001331031.2:c.136G>A, NM_001331031.1:c.136G>A, NM_001331032.2:c.136G>A, NM_001331032.1:c.136G>A, NM_001146590.2:c.238G>A, NM_001146590.1:c.238G>A, NM_001146627.2:c.82G>A, NM_001146627.1:c.82G>A, NM_001331033.2:c.37G>A, NM_001331033.1:c.37G>A, NR_027474.1:n.459G>A, NR_027475.1:n.318G>A, NP_112569.2:p.Asp86Asn, NP_001317960.1:p.Asp46Asn, NP_001317961.1:p.Asp46Asn, NP_001140062.1:p.Asp80Asn, NP_001140099.1:p.Asp28Asn, NP_001317962.1:p.Asp13Asn

Select item 145950050310.

rs1459500503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:108742518 (GRCh38)
4:109663674 (GRCh37)
Canonical SPDI:: NC_000004.12:108742517:G:A
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.108742518G>A, NC_000004.11:g.109663674G>A, NM_031279.4:c.1466C>T, NM_031279.3:c.1466C>T, NM_001331031.2:c.1346C>T, NM_001331031.1:c.1346C>T, NM_001331032.2:c.1346C>T, NM_001331032.1:c.1346C>T, NM_001146590.2:c.1448C>T, NM_001146590.1:c.1448C>T, NM_001146627.2:c.1292C>T, NM_001146627.1:c.1292C>T, NM_001331033.2:c.1247C>T, NM_001331033.1:c.1247C>T, NR_027474.1:n.1669C>T, NR_027475.1:n.1528C>T, NP_112569.2:p.Thr489Ile, NP_001317960.1:p.Thr449Ile, NP_001317961.1:p.Thr449Ile, NP_001140062.1:p.Thr483Ile, NP_001140099.1:p.Thr431Ile, NP_001317962.1:p.Thr416Ile

Select item 145623410011.

rs1456234100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:108742530 (GRCh38)
4:109663686 (GRCh37)
Canonical SPDI:: NC_000004.12:108742529:A:T
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108742530A>T, NC_000004.11:g.109663686A>T, NM_031279.4:c.1454T>A, NM_031279.3:c.1454T>A, NM_001331031.2:c.1334T>A, NM_001331031.1:c.1334T>A, NM_001331032.2:c.1334T>A, NM_001331032.1:c.1334T>A, NM_001146590.2:c.1436T>A, NM_001146590.1:c.1436T>A, NM_001146627.2:c.1280T>A, NM_001146627.1:c.1280T>A, NM_001331033.2:c.1235T>A, NM_001331033.1:c.1235T>A, NR_027474.1:n.1657T>A, NR_027475.1:n.1516T>A, NP_112569.2:p.Met485Lys, NP_001317960.1:p.Met445Lys, NP_001317961.1:p.Met445Lys, NP_001140062.1:p.Met479Lys, NP_001140099.1:p.Met427Lys, NP_001317962.1:p.Met412Lys

Select item 145422081712.

rs1454220817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:108749258 (GRCh38)
4:109670414 (GRCh37)
Canonical SPDI:: NC_000004.12:108749257:C:T
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.108749258C>T, NC_000004.11:g.109670414C>T, NM_031279.4:c.907G>A, NM_031279.3:c.907G>A, NM_001331031.2:c.787G>A, NM_001331031.1:c.787G>A, NM_001331032.2:c.787G>A, NM_001331032.1:c.787G>A, NM_001146590.2:c.889G>A, NM_001146590.1:c.889G>A, NM_001146627.2:c.733G>A, NM_001146627.1:c.733G>A, NM_001331033.2:c.688G>A, NM_001331033.1:c.688G>A, NR_027474.1:n.1110G>A, NR_027475.1:n.969G>A, NP_112569.2:p.Gly303Arg, NP_001317960.1:p.Gly263Arg, NP_001317961.1:p.Gly263Arg, NP_001140062.1:p.Gly297Arg, NP_001140099.1:p.Gly245Arg, NP_001317962.1:p.Gly230Arg

Select item 144807610913.

rs1448076109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:108754645 (GRCh38)
4:109675801 (GRCh37)
Canonical SPDI:: NC_000004.12:108754644:T:C
Gene:: ETNPPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.108754645T>C, NC_000004.11:g.109675801T>C, NM_031279.4:c.476A>G, NM_031279.3:c.476A>G, NM_001331031.2:c.356A>G, NM_001331031.1:c.356A>G, NM_001331032.2:c.356A>G, NM_001331032.1:c.356A>G, NM_001146590.2:c.458A>G, NM_001146590.1:c.458A>G, NM_001146627.2:c.302A>G, NM_001146627.1:c.302A>G, NM_001331033.2:c.257A>G, NM_001331033.1:c.257A>G, NR_027474.1:n.679A>G, NR_027475.1:n.538A>G, NP_112569.2:p.Asp159Gly, NP_001317960.1:p.Asp119Gly, NP_001317961.1:p.Asp119Gly, NP_001140062.1:p.Asp153Gly, NP_001140099.1:p.Asp101Gly, NP_001317962.1:p.Asp86Gly

Select item 144387268614.

rs1443872686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:108759796 (GRCh38)
4:109680952 (GRCh37)
Canonical SPDI:: NC_000004.12:108759795:T:C
Gene:: ETNPPL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000004.12:g.108759796T>C, NC_000004.11:g.109680952T>C, NM_031279.4:c.288A>G, NM_031279.3:c.288A>G, NM_001331031.2:c.168A>G, NM_001331031.1:c.168A>G, NM_001331032.2:c.168A>G, NM_001331032.1:c.168A>G, NM_001146590.2:c.270A>G, NM_001146590.1:c.270A>G, NM_001146627.2:c.114A>G, NM_001146627.1:c.114A>G, NM_001331033.2:c.69A>G, NM_001331033.1:c.69A>G, NR_027474.1:n.491A>G, NR_027475.1:n.350A>G

Select item 144310245115.

rs1443102451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:108749376 (GRCh38)
4:109670532 (GRCh37)
Canonical SPDI:: NC_000004.12:108749375:C:T
Gene:: ETNPPL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108749376C>T, NC_000004.11:g.109670532C>T, NM_031279.4:c.789G>A, NM_031279.3:c.789G>A, NM_001331031.2:c.669G>A, NM_001331031.1:c.669G>A, NM_001331032.2:c.669G>A, NM_001331032.1:c.669G>A, NM_001146590.2:c.771G>A, NM_001146590.1:c.771G>A, NM_001146627.2:c.615G>A, NM_001146627.1:c.615G>A, NM_001331033.2:c.570G>A, NM_001331033.1:c.570G>A, NR_027474.1:n.992G>A, NR_027475.1:n.851G>A

Select item 143436971816.

rs1434369718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:108752904 (GRCh38)
4:109674060 (GRCh37)
Canonical SPDI:: NC_000004.12:108752903:A:C
Gene:: ETNPPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.108752904A>C, NC_000004.11:g.109674060A>C, NM_031279.4:c.609T>G, NM_031279.3:c.609T>G, NM_001331031.2:c.489T>G, NM_001331031.1:c.489T>G, NM_001331032.2:c.489T>G, NM_001331032.1:c.489T>G, NM_001146590.2:c.591T>G, NM_001146590.1:c.591T>G, NM_001146627.2:c.435T>G, NM_001146627.1:c.435T>G, NM_001331033.2:c.390T>G, NM_001331033.1:c.390T>G, NR_027474.1:n.812T>G, NR_027475.1:n.671T>G, NP_112569.2:p.Ser203Arg, NP_001317960.1:p.Ser163Arg, NP_001317961.1:p.Ser163Arg, NP_001140062.1:p.Ser197Arg, NP_001140099.1:p.Ser145Arg, NP_001317962.1:p.Ser130Arg

Select item 143355525717.

rs1433555257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:108751018 (GRCh38)
4:109672174 (GRCh37)
Canonical SPDI:: NC_000004.12:108751017:T:A,NC_000004.12:108751017:T:C
Gene:: ETNPPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108751018T>A, NC_000004.12:g.108751018T>C, NC_000004.11:g.109672174T>A, NC_000004.11:g.109672174T>C, NM_031279.4:c.619A>T, NM_031279.4:c.619A>G, NM_031279.3:c.619A>T, NM_031279.3:c.619A>G, NM_001331031.2:c.499A>T, NM_001331031.2:c.499A>G, NM_001331031.1:c.499A>T, NM_001331031.1:c.499A>G, NM_001331032.2:c.499A>T, NM_001331032.2:c.499A>G, NM_001331032.1:c.499A>T, NM_001331032.1:c.499A>G, NM_001146590.2:c.601A>T, NM_001146590.2:c.601A>G, NM_001146590.1:c.601A>T, NM_001146590.1:c.601A>G, NM_001146627.2:c.445A>T, NM_001146627.2:c.445A>G, NM_001146627.1:c.445A>T, NM_001146627.1:c.445A>G, NM_001331033.2:c.400A>T, NM_001331033.2:c.400A>G, NM_001331033.1:c.400A>T, NM_001331033.1:c.400A>G, NR_027474.1:n.822A>T, NR_027474.1:n.822A>G, NR_027475.1:n.681A>T, NR_027475.1:n.681A>G, NP_112569.2:p.Ile207Phe, NP_112569.2:p.Ile207Val, NP_001317960.1:p.Ile167Phe, NP_001317960.1:p.Ile167Val, NP_001317961.1:p.Ile167Phe, NP_001317961.1:p.Ile167Val, NP_001140062.1:p.Ile201Phe, NP_001140062.1:p.Ile201Val, NP_001140099.1:p.Ile149Phe, NP_001140099.1:p.Ile149Val, NP_001317962.1:p.Ile134Phe, NP_001317962.1:p.Ile134Val

Select item 142919348918.

rs1429193489 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 4:108756435 (GRCh38)
4:109677591 (GRCh37)
Canonical SPDI:: NC_000004.12:108756434:A:
Gene:: ETNPPL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108756435del, NC_000004.11:g.109677591del, NM_031279.4:c.393del, NM_031279.3:c.393del, NM_001331031.2:c.273del, NM_001331031.1:c.273del, NM_001331032.2:c.273del, NM_001331032.1:c.273del, NM_001146590.2:c.375del, NM_001146590.1:c.375del, NM_001146627.2:c.219del, NM_001146627.1:c.219del, NM_001331033.2:c.174del, NM_001331033.1:c.174del, NR_027474.1:n.596del, NR_027475.1:n.455del, NP_112569.2:p.Asp131fs, NP_001317960.1:p.Asp91fs, NP_001317961.1:p.Asp91fs, NP_001140062.1:p.Asp125fs, NP_001140099.1:p.Asp73fs, NP_001317962.1:p.Asp58fs

Select item 142918429319.

rs1429184293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:108759811 (GRCh38)
4:109680967 (GRCh37)
Canonical SPDI:: NC_000004.12:108759810:A:G
Gene:: ETNPPL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.108759811A>G, NC_000004.11:g.109680967A>G, NM_031279.4:c.273T>C, NM_031279.3:c.273T>C, NM_001331031.2:c.153T>C, NM_001331031.1:c.153T>C, NM_001331032.2:c.153T>C, NM_001331032.1:c.153T>C, NM_001146590.2:c.255T>C, NM_001146590.1:c.255T>C, NM_001146627.2:c.99T>C, NM_001146627.1:c.99T>C, NM_001331033.2:c.54T>C, NM_001331033.1:c.54T>C, NR_027474.1:n.476T>C, NR_027475.1:n.335T>C

Select item 142917454320.

rs1429174543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:108759775 (GRCh38)
4:109680931 (GRCh37)
Canonical SPDI:: NC_000004.12:108759774:G:T
Gene:: ETNPPL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.108759775G>T, NC_000004.11:g.109680931G>T, NM_031279.4:c.309C>A, NM_031279.3:c.309C>A, NM_001331031.2:c.189C>A, NM_001331031.1:c.189C>A, NM_001331032.2:c.189C>A, NM_001331032.1:c.189C>A, NM_001146590.2:c.291C>A, NM_001146590.1:c.291C>A, NM_001146627.2:c.135C>A, NM_001146627.1:c.135C>A, NM_001331033.2:c.90C>A, NM_001331033.1:c.90C>A, NR_027474.1:n.512C>A, NR_027475.1:n.371C>A

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