SNP Links for Protein (Select 223468622) - SNP

Links from Protein

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Select item 14883985101.

rs1488398510 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:140479211 (GRCh38)
7:140179011 (GRCh37)
Canonical SPDI:: NC_000007.14:140479210:CCCCC:CCCC
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,5_prime_UTR_variant
HGVS:: NC_000007.14:g.140479215del, NC_000007.13:g.140179015del, NM_013446.4:c.134del, NM_013446.3:c.134del, XM_011515996.3:c.134del, XM_011515996.2:c.134del, XM_011515996.1:c.134del, NM_001291663.2:c.-221del, NM_001291663.1:c.-221del, NM_001145125.2:c.134del, NM_001145125.1:c.134del, NR_117084.1:n.359del, NP_038474.2:p.Gly45fs, XP_011514298.1:p.Gly45fs, NP_001138597.1:p.Gly45fs

Select item 14828309852.

rs1482830985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140456849 (GRCh38)
7:140156649 (GRCh37)
Canonical SPDI:: NC_000007.14:140456848:A:G
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140456849A>G, NC_000007.13:g.140156649A>G, NM_013446.4:c.789T>C, NM_013446.3:c.789T>C, XM_011515997.4:c.597T>C, XM_011515997.3:c.597T>C, XM_011515997.2:c.597T>C, XM_011515997.1:c.597T>C, XM_011515996.3:c.660T>C, XM_011515996.2:c.660T>C, XM_011515996.1:c.660T>C, XM_011515998.2:c.597T>C, XM_011515998.1:c.597T>C, NM_001291663.2:c.597T>C, NM_001291663.1:c.597T>C, NM_001145125.2:c.789T>C, NM_001145125.1:c.789T>C, XM_047420098.1:c.597T>C, XM_047420099.1:c.597T>C, NR_117084.1:n.557T>C

Select item 14820746683.

rs1482074668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:140456695 (GRCh38)
7:140156495 (GRCh37)
Canonical SPDI:: NC_000007.14:140456694:G:A,NC_000007.14:140456694:G:T
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.140456695G>A, NC_000007.14:g.140456695G>T, NC_000007.13:g.140156495G>A, NC_000007.13:g.140156495G>T, NM_013446.4:c.943C>T, NM_013446.4:c.943C>A, NM_013446.3:c.943C>T, NM_013446.3:c.943C>A, XM_011515997.4:c.751C>T, XM_011515997.4:c.751C>A, XM_011515997.3:c.751C>T, XM_011515997.3:c.751C>A, XM_011515997.2:c.751C>T, XM_011515997.2:c.751C>A, XM_011515997.1:c.751C>T, XM_011515997.1:c.751C>A, XM_011515996.3:c.814C>T, XM_011515996.3:c.814C>A, XM_011515996.2:c.814C>T, XM_011515996.2:c.814C>A, XM_011515996.1:c.814C>T, XM_011515996.1:c.814C>A, XM_011515998.2:c.751C>T, XM_011515998.2:c.751C>A, XM_011515998.1:c.751C>T, XM_011515998.1:c.751C>A, NM_001291663.2:c.751C>T, NM_001291663.2:c.751C>A, NM_001291663.1:c.751C>T, NM_001291663.1:c.751C>A, NM_001145125.2:c.943C>T, NM_001145125.2:c.943C>A, NM_001145125.1:c.943C>T, NM_001145125.1:c.943C>A, XM_047420098.1:c.751C>T, XM_047420098.1:c.751C>A, XM_047420099.1:c.751C>T, XM_047420099.1:c.751C>A, NR_117084.1:n.711C>T, NR_117084.1:n.711C>A, NP_038474.2:p.Arg315Cys, NP_038474.2:p.Arg315Ser, XP_011514299.1:p.Arg251Cys, XP_011514299.1:p.Arg251Ser, XP_011514298.1:p.Arg272Cys, XP_011514298.1:p.Arg272Ser, XP_011514300.1:p.Arg251Cys, XP_011514300.1:p.Arg251Ser, NP_001278592.1:p.Arg251Cys, NP_001278592.1:p.Arg251Ser, NP_001138597.1:p.Arg315Cys, NP_001138597.1:p.Arg315Ser, XP_047276054.1:p.Arg251Cys, XP_047276054.1:p.Arg251Ser, XP_047276055.1:p.Arg251Cys, XP_047276055.1:p.Arg251Ser

Select item 14814486424.

rs1481448642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140459841 (GRCh38)
7:140159641 (GRCh37)
Canonical SPDI:: NC_000007.14:140459840:A:G
Gene:: MKRN1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.140459841A>G, NC_000007.13:g.140159641A>G, NM_013446.4:c.410T>C, NM_013446.3:c.410T>C, XM_011515997.4:c.218T>C, XM_011515997.3:c.218T>C, XM_011515997.2:c.218T>C, XM_011515997.1:c.218T>C, XM_011515996.3:c.281T>C, XM_011515996.2:c.281T>C, XM_011515996.1:c.281T>C, XM_011515998.2:c.218T>C, XM_011515998.1:c.218T>C, NM_001291663.2:c.218T>C, NM_001291663.1:c.218T>C, NM_001145125.2:c.410T>C, NM_001145125.1:c.410T>C, XM_047420098.1:c.218T>C, XM_047420099.1:c.218T>C, NP_038474.2:p.Ile137Thr, XP_011514299.1:p.Ile73Thr, XP_011514298.1:p.Ile94Thr, XP_011514300.1:p.Ile73Thr, NP_001278592.1:p.Ile73Thr, NP_001138597.1:p.Ile137Thr, XP_047276054.1:p.Ile73Thr, XP_047276055.1:p.Ile73Thr

Select item 14810611935.

rs1481061193 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:140459065 (GRCh38)
7:140158865 (GRCh37)
Canonical SPDI:: NC_000007.14:140459064:AT:
Gene:: MKRN1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140459065_140459066del, NC_000007.13:g.140158865_140158866del, NM_013446.4:c.712_713del, NM_013446.3:c.712_713del, XM_011515997.4:c.520_521del, XM_011515997.3:c.520_521del, XM_011515997.2:c.520_521del, XM_011515997.1:c.520_521del, XM_011515996.3:c.583_584del, XM_011515996.2:c.583_584del, XM_011515996.1:c.583_584del, XM_011515998.2:c.520_521del, XM_011515998.1:c.520_521del, NM_001291663.2:c.520_521del, NM_001291663.1:c.520_521del, NM_001145125.2:c.712_713del, NM_001145125.1:c.712_713del, XM_047420098.1:c.520_521del, XM_047420099.1:c.520_521del, NP_038474.2:p.Met238fs, XP_011514299.1:p.Met174fs, XP_011514298.1:p.Met195fs, XP_011514300.1:p.Met174fs, NP_001278592.1:p.Met174fs, NP_001138597.1:p.Met238fs, XP_047276054.1:p.Met174fs, XP_047276055.1:p.Met174fs

Select item 14753555716.

rs1475355571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140479239 (GRCh38)
7:140179039 (GRCh37)
Canonical SPDI:: NC_000007.14:140479238:C:T
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000212/4 (TOMMO)
HGVS:: NC_000007.14:g.140479239C>T, NC_000007.13:g.140179039C>T, NM_013446.4:c.106G>A, NM_013446.3:c.106G>A, XM_011515996.3:c.106G>A, XM_011515996.2:c.106G>A, XM_011515996.1:c.106G>A, NM_001291663.2:c.-249G>A, NM_001291663.1:c.-249G>A, NM_001145125.2:c.106G>A, NM_001145125.1:c.106G>A, NR_117084.1:n.331G>A, NP_038474.2:p.Ala36Thr, XP_011514298.1:p.Ala36Thr, NP_001138597.1:p.Ala36Thr

Select item 14670688197.

rs1467068819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:140479283 (GRCh38)
7:140179083 (GRCh37)
Canonical SPDI:: NC_000007.14:140479282:G:A,NC_000007.14:140479282:G:C
Gene:: MKRN1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140479283G>A, NC_000007.14:g.140479283G>C, NC_000007.13:g.140179083G>A, NC_000007.13:g.140179083G>C, NM_013446.4:c.62C>T, NM_013446.4:c.62C>G, NM_013446.3:c.62C>T, NM_013446.3:c.62C>G, XM_011515996.3:c.62C>T, XM_011515996.3:c.62C>G, XM_011515996.2:c.62C>T, XM_011515996.2:c.62C>G, XM_011515996.1:c.62C>T, XM_011515996.1:c.62C>G, NM_001291663.2:c.-293C>T, NM_001291663.2:c.-293C>G, NM_001291663.1:c.-293C>T, NM_001291663.1:c.-293C>G, NM_001145125.2:c.62C>T, NM_001145125.2:c.62C>G, NM_001145125.1:c.62C>T, NM_001145125.1:c.62C>G, NR_117084.1:n.287C>T, NR_117084.1:n.287C>G, NP_038474.2:p.Ala21Val, NP_038474.2:p.Ala21Gly, XP_011514298.1:p.Ala21Val, XP_011514298.1:p.Ala21Gly, NP_001138597.1:p.Ala21Val, NP_001138597.1:p.Ala21Gly

Select item 14642276548.

rs1464227654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140459190 (GRCh38)
7:140158990 (GRCh37)
Canonical SPDI:: NC_000007.14:140459189:G:A
Gene:: MKRN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140459190G>A, NC_000007.13:g.140158990G>A, NM_013446.4:c.588C>T, NM_013446.3:c.588C>T, XM_011515997.4:c.396C>T, XM_011515997.3:c.396C>T, XM_011515997.2:c.396C>T, XM_011515997.1:c.396C>T, XM_011515996.3:c.459C>T, XM_011515996.2:c.459C>T, XM_011515996.1:c.459C>T, XM_011515998.2:c.396C>T, XM_011515998.1:c.396C>T, NM_001291663.2:c.396C>T, NM_001291663.1:c.396C>T, NM_001145125.2:c.588C>T, NM_001145125.1:c.588C>T, XM_047420098.1:c.396C>T, XM_047420099.1:c.396C>T

Select item 14616864979.

rs1461686497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:140459866 (GRCh38)
7:140159666 (GRCh37)
Canonical SPDI:: NC_000007.14:140459865:C:A
Gene:: MKRN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140459866C>A, NC_000007.13:g.140159666C>A, NM_013446.4:c.385G>T, NM_013446.3:c.385G>T, XM_011515997.4:c.193G>T, XM_011515997.3:c.193G>T, XM_011515997.2:c.193G>T, XM_011515997.1:c.193G>T, XM_011515996.3:c.256G>T, XM_011515996.2:c.256G>T, XM_011515996.1:c.256G>T, XM_011515998.2:c.193G>T, XM_011515998.1:c.193G>T, NM_001291663.2:c.193G>T, NM_001291663.1:c.193G>T, NM_001145125.2:c.385G>T, NM_001145125.1:c.385G>T, XM_047420098.1:c.193G>T, XM_047420099.1:c.193G>T, NP_038474.2:p.Ala129Ser, XP_011514299.1:p.Ala65Ser, XP_011514298.1:p.Ala86Ser, XP_011514300.1:p.Ala65Ser, NP_001278592.1:p.Ala65Ser, NP_001138597.1:p.Ala129Ser, XP_047276054.1:p.Ala65Ser, XP_047276055.1:p.Ala65Ser

Select item 146164603210.

rs1461646032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140459927 (GRCh38)
7:140159727 (GRCh37)
Canonical SPDI:: NC_000007.14:140459926:A:G
Gene:: MKRN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.140459927A>G, NC_000007.13:g.140159727A>G, NM_013446.4:c.324T>C, NM_013446.3:c.324T>C, XM_011515997.4:c.132T>C, XM_011515997.3:c.132T>C, XM_011515997.2:c.132T>C, XM_011515997.1:c.132T>C, XM_011515996.3:c.195T>C, XM_011515996.2:c.195T>C, XM_011515996.1:c.195T>C, XM_011515998.2:c.132T>C, XM_011515998.1:c.132T>C, NM_001291663.2:c.132T>C, NM_001291663.1:c.132T>C, NM_001145125.2:c.324T>C, NM_001145125.1:c.324T>C, XM_047420098.1:c.132T>C, XM_047420099.1:c.132T>C

Select item 145979205111.

rs1459792051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140456734 (GRCh38)
7:140156534 (GRCh37)
Canonical SPDI:: NC_000007.14:140456733:G:A
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.140456734G>A, NC_000007.13:g.140156534G>A, NM_013446.4:c.904C>T, NM_013446.3:c.904C>T, XM_011515997.4:c.712C>T, XM_011515997.3:c.712C>T, XM_011515997.2:c.712C>T, XM_011515997.1:c.712C>T, XM_011515996.3:c.775C>T, XM_011515996.2:c.775C>T, XM_011515996.1:c.775C>T, XM_011515998.2:c.712C>T, XM_011515998.1:c.712C>T, NM_001291663.2:c.712C>T, NM_001291663.1:c.712C>T, NM_001145125.2:c.904C>T, NM_001145125.1:c.904C>T, XM_047420098.1:c.712C>T, XM_047420099.1:c.712C>T, NR_117084.1:n.672C>T, NP_038474.2:p.Leu302Phe, XP_011514299.1:p.Leu238Phe, XP_011514298.1:p.Leu259Phe, XP_011514300.1:p.Leu238Phe, NP_001278592.1:p.Leu238Phe, NP_001138597.1:p.Leu302Phe, XP_047276054.1:p.Leu238Phe, XP_047276055.1:p.Leu238Phe

Select item 145759241412.

rs1457592414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:140479290 (GRCh38)
7:140179090 (GRCh37)
Canonical SPDI:: NC_000007.14:140479289:C:A,NC_000007.14:140479289:C:T
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.140479290C>A, NC_000007.14:g.140479290C>T, NC_000007.13:g.140179090C>A, NC_000007.13:g.140179090C>T, NM_013446.4:c.55G>T, NM_013446.4:c.55G>A, NM_013446.3:c.55G>T, NM_013446.3:c.55G>A, XM_011515996.3:c.55G>T, XM_011515996.3:c.55G>A, XM_011515996.2:c.55G>T, XM_011515996.2:c.55G>A, XM_011515996.1:c.55G>T, XM_011515996.1:c.55G>A, NM_001291663.2:c.-300G>T, NM_001291663.2:c.-300G>A, NM_001291663.1:c.-300G>T, NM_001291663.1:c.-300G>A, NM_001145125.2:c.55G>T, NM_001145125.2:c.55G>A, NM_001145125.1:c.55G>T, NM_001145125.1:c.55G>A, NR_117084.1:n.280G>T, NR_117084.1:n.280G>A, NP_038474.2:p.Ala19Ser, NP_038474.2:p.Ala19Thr, XP_011514298.1:p.Ala19Ser, XP_011514298.1:p.Ala19Thr, NP_001138597.1:p.Ala19Ser, NP_001138597.1:p.Ala19Thr

Select item 145713532713.

rs1457135327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:140479309 (GRCh38)
7:140179109 (GRCh37)
Canonical SPDI:: NC_000007.14:140479308:T:C
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.140479309T>C, NC_000007.13:g.140179109T>C, NM_013446.4:c.36A>G, NM_013446.3:c.36A>G, XM_011515996.3:c.36A>G, XM_011515996.2:c.36A>G, XM_011515996.1:c.36A>G, NM_001291663.2:c.-319A>G, NM_001291663.1:c.-319A>G, NM_001145125.2:c.36A>G, NM_001145125.1:c.36A>G, NR_117084.1:n.261A>G

Select item 145549931714.

rs1455499317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140459830 (GRCh38)
7:140159630 (GRCh37)
Canonical SPDI:: NC_000007.14:140459829:G:A
Gene:: MKRN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140459830G>A, NC_000007.13:g.140159630G>A, NM_013446.4:c.421C>T, NM_013446.3:c.421C>T, XM_011515997.4:c.229C>T, XM_011515997.3:c.229C>T, XM_011515997.2:c.229C>T, XM_011515997.1:c.229C>T, XM_011515996.3:c.292C>T, XM_011515996.2:c.292C>T, XM_011515996.1:c.292C>T, XM_011515998.2:c.229C>T, XM_011515998.1:c.229C>T, NM_001291663.2:c.229C>T, NM_001291663.1:c.229C>T, NM_001145125.2:c.421C>T, NM_001145125.1:c.421C>T, XM_047420098.1:c.229C>T, XM_047420099.1:c.229C>T, NP_038474.2:p.Leu141Phe, XP_011514299.1:p.Leu77Phe, XP_011514298.1:p.Leu98Phe, XP_011514300.1:p.Leu77Phe, NP_001278592.1:p.Leu77Phe, NP_001138597.1:p.Leu141Phe, XP_047276054.1:p.Leu77Phe, XP_047276055.1:p.Leu77Phe

Select item 145508721615.

rs1455087216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140459126 (GRCh38)
7:140158926 (GRCh37)
Canonical SPDI:: NC_000007.14:140459125:C:T
Gene:: MKRN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140459126C>T, NC_000007.13:g.140158926C>T, NM_013446.4:c.652G>A, NM_013446.3:c.652G>A, XM_011515997.4:c.460G>A, XM_011515997.3:c.460G>A, XM_011515997.2:c.460G>A, XM_011515997.1:c.460G>A, XM_011515996.3:c.523G>A, XM_011515996.2:c.523G>A, XM_011515996.1:c.523G>A, XM_011515998.2:c.460G>A, XM_011515998.1:c.460G>A, NM_001291663.2:c.460G>A, NM_001291663.1:c.460G>A, NM_001145125.2:c.652G>A, NM_001145125.1:c.652G>A, XM_047420098.1:c.460G>A, XM_047420099.1:c.460G>A, NP_038474.2:p.Ala218Thr, XP_011514299.1:p.Ala154Thr, XP_011514298.1:p.Ala175Thr, XP_011514300.1:p.Ala154Thr, NP_001278592.1:p.Ala154Thr, NP_001138597.1:p.Ala218Thr, XP_047276054.1:p.Ala154Thr, XP_047276055.1:p.Ala154Thr

Select item 145503268516.

rs1455032685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:140459901 (GRCh38)
7:140159701 (GRCh37)
Canonical SPDI:: NC_000007.14:140459900:G:T
Gene:: MKRN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140459901G>T, NC_000007.13:g.140159701G>T, NM_013446.4:c.350C>A, NM_013446.3:c.350C>A, XM_011515997.4:c.158C>A, XM_011515997.3:c.158C>A, XM_011515997.2:c.158C>A, XM_011515997.1:c.158C>A, XM_011515996.3:c.221C>A, XM_011515996.2:c.221C>A, XM_011515996.1:c.221C>A, XM_011515998.2:c.158C>A, XM_011515998.1:c.158C>A, NM_001291663.2:c.158C>A, NM_001291663.1:c.158C>A, NM_001145125.2:c.350C>A, NM_001145125.1:c.350C>A, XM_047420098.1:c.158C>A, XM_047420099.1:c.158C>A, NP_038474.2:p.Ala117Glu, XP_011514299.1:p.Ala53Glu, XP_011514298.1:p.Ala74Glu, XP_011514300.1:p.Ala53Glu, NP_001278592.1:p.Ala53Glu, NP_001138597.1:p.Ala117Glu, XP_047276054.1:p.Ala53Glu, XP_047276055.1:p.Ala53Glu

Select item 145032555917.

rs1450325559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140459199 (GRCh38)
7:140158999 (GRCh37)
Canonical SPDI:: NC_000007.14:140459198:G:A
Gene:: MKRN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140459199G>A, NC_000007.13:g.140158999G>A, NM_013446.4:c.579C>T, NM_013446.3:c.579C>T, XM_011515997.4:c.387C>T, XM_011515997.3:c.387C>T, XM_011515997.2:c.387C>T, XM_011515997.1:c.387C>T, XM_011515996.3:c.450C>T, XM_011515996.2:c.450C>T, XM_011515996.1:c.450C>T, XM_011515998.2:c.387C>T, XM_011515998.1:c.387C>T, NM_001291663.2:c.387C>T, NM_001291663.1:c.387C>T, NM_001145125.2:c.579C>T, NM_001145125.1:c.579C>T, XM_047420098.1:c.387C>T, XM_047420099.1:c.387C>T

Select item 144769845818.

rs1447698458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140479211 (GRCh38)
7:140179011 (GRCh37)
Canonical SPDI:: NC_000007.14:140479210:C:T
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140479211C>T, NC_000007.13:g.140179011C>T, NM_013446.4:c.134G>A, NM_013446.3:c.134G>A, XM_011515996.3:c.134G>A, XM_011515996.2:c.134G>A, XM_011515996.1:c.134G>A, NM_001291663.2:c.-221G>A, NM_001291663.1:c.-221G>A, NM_001145125.2:c.134G>A, NM_001145125.1:c.134G>A, NR_117084.1:n.359G>A, NP_038474.2:p.Gly45Asp, XP_011514298.1:p.Gly45Asp, NP_001138597.1:p.Gly45Asp

Select item 144567925719.

rs1445679257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140459094 (GRCh38)
7:140158894 (GRCh37)
Canonical SPDI:: NC_000007.14:140459093:A:G
Gene:: MKRN1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140459094A>G, NC_000007.13:g.140158894A>G, NM_013446.4:c.684T>C, NM_013446.3:c.684T>C, XM_011515997.4:c.492T>C, XM_011515997.3:c.492T>C, XM_011515997.2:c.492T>C, XM_011515997.1:c.492T>C, XM_011515996.3:c.555T>C, XM_011515996.2:c.555T>C, XM_011515996.1:c.555T>C, XM_011515998.2:c.492T>C, XM_011515998.1:c.492T>C, NM_001291663.2:c.492T>C, NM_001291663.1:c.492T>C, NM_001145125.2:c.684T>C, NM_001145125.1:c.684T>C, XM_047420098.1:c.492T>C, XM_047420099.1:c.492T>C

Select item 144521251620.

rs1445212516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140456864 (GRCh38)
7:140156664 (GRCh37)
Canonical SPDI:: NC_000007.14:140456863:C:T
Gene:: MKRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.140456864C>T, NC_000007.13:g.140156664C>T, NM_013446.4:c.774G>A, NM_013446.3:c.774G>A, XM_011515997.4:c.582G>A, XM_011515997.3:c.582G>A, XM_011515997.2:c.582G>A, XM_011515997.1:c.582G>A, XM_011515996.3:c.645G>A, XM_011515996.2:c.645G>A, XM_011515996.1:c.645G>A, XM_011515998.2:c.582G>A, XM_011515998.1:c.582G>A, NM_001291663.2:c.582G>A, NM_001291663.1:c.582G>A, NM_001145125.2:c.774G>A, NM_001145125.1:c.774G>A, XM_047420098.1:c.582G>A, XM_047420099.1:c.582G>A, NR_117084.1:n.542G>A

dbSNP

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