SNP Links for Protein (Select 24308400) - SNP

Links from Protein

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Select item 14891634501.

rs1489163450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72871565 (GRCh38)
10:74631323 (GRCh37)
Canonical SPDI:: NC_000010.11:72871564:T:C
Gene:: MCU (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72871565T>C, NC_000010.10:g.74631323T>C, NM_001270680.3:c.699T>C, NM_001270680.2:c.699T>C, NM_001270680.1:c.699T>C, NM_138357.3:c.846T>C, NM_138357.2:c.846T>C, NR_073062.2:n.1020T>C, NR_073062.1:n.1032T>C, NM_001270679.2:c.783T>C, NM_001270679.1:c.783T>C

Select item 14889825832.

rs1488982583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72859189 (GRCh38)
10:74618947 (GRCh37)
Canonical SPDI:: NC_000010.11:72859188:T:C
Gene:: MCU (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.72859189T>C, NC_000010.10:g.74618947T>C, NM_001270680.3:c.86T>C, NM_001270680.2:c.86T>C, NM_001270680.1:c.86T>C, NM_138357.3:c.233T>C, NM_138357.2:c.233T>C, NR_073062.2:n.407T>C, NR_073062.1:n.419T>C, NM_001270679.2:c.233T>C, NM_001270679.1:c.233T>C, NP_001257609.1:p.Val29Ala, NP_612366.1:p.Val78Ala, NP_001257608.1:p.Val78Ala

Select item 14888126643.

rs1488812664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72871401 (GRCh38)
10:74631159 (GRCh37)
Canonical SPDI:: NC_000010.11:72871400:G:A
Gene:: MCU (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72871401G>A, NC_000010.10:g.74631159G>A, NM_001270680.3:c.535G>A, NM_001270680.2:c.535G>A, NM_001270680.1:c.535G>A, NM_138357.3:c.682G>A, NM_138357.2:c.682G>A, NR_073062.2:n.856G>A, NR_073062.1:n.868G>A, NM_001270679.2:c.619G>A, NM_001270679.1:c.619G>A, NP_001257609.1:p.Ala179Thr, NP_612366.1:p.Ala228Thr, NP_001257608.1:p.Ala207Thr

Select item 14882251554.

rs1488225155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:72871421 (GRCh38)
10:74631179 (GRCh37)
Canonical SPDI:: NC_000010.11:72871420:G:T
Gene:: MCU (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72871421G>T, NC_000010.10:g.74631179G>T, NM_001270680.3:c.555G>T, NM_001270680.2:c.555G>T, NM_001270680.1:c.555G>T, NM_138357.3:c.702G>T, NM_138357.2:c.702G>T, NR_073062.2:n.876G>T, NR_073062.1:n.888G>T, NM_001270679.2:c.639G>T, NM_001270679.1:c.639G>T, NP_001257609.1:p.Leu185Phe, NP_612366.1:p.Leu234Phe, NP_001257608.1:p.Leu213Phe

Select item 14881636625.

rs1488163662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72859237 (GRCh38)
10:74618995 (GRCh37)
Canonical SPDI:: NC_000010.11:72859236:G:A
Gene:: MCU (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=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72859237G>A, NC_000010.10:g.74618995G>A, NM_001270680.3:c.134G>A, NM_001270680.2:c.134G>A, NM_001270680.1:c.134G>A, NM_138357.3:c.281G>A, NM_138357.2:c.281G>A, NR_073062.2:n.455G>A, NR_073062.1:n.467G>A, NM_001270679.2:c.281G>A, NM_001270679.1:c.281G>A, NP_001257609.1:p.Arg45His, NP_612366.1:p.Arg94His, NP_001257608.1:p.Arg94His

Select item 14815685356.

rs1481568535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72868743 (GRCh38)
10:74628501 (GRCh37)
Canonical SPDI:: NC_000010.11:72868742:A:G
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72868743A>G, NC_000010.10:g.74628501A>G, NM_001270680.3:c.390A>G, NM_001270680.2:c.390A>G, NM_001270680.1:c.390A>G, NM_138357.3:c.537A>G, NM_138357.2:c.537A>G, NR_073062.2:n.711A>G, NR_073062.1:n.723A>G

Select item 14716779247.

rs1471677924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72860456 (GRCh38)
10:74620214 (GRCh37)
Canonical SPDI:: NC_000010.11:72860455:A:G
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72860456A>G, NC_000010.10:g.74620214A>G, NM_001270680.3:c.278A>G, NM_001270680.2:c.278A>G, NM_001270680.1:c.278A>G, NM_138357.3:c.425A>G, NM_138357.2:c.425A>G, NR_073062.2:n.599A>G, NR_073062.1:n.611A>G, NM_001270679.2:c.425A>G, NM_001270679.1:c.425A>G, NP_001257609.1:p.Asp93Gly, NP_612366.1:p.Asp142Gly, NP_001257608.1:p.Asp142Gly

Select item 14677566548.

rs1467756654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:72834375 (GRCh38)
10:74594133 (GRCh37)
Canonical SPDI:: NC_000010.11:72834374:C:G
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.72834375C>G, NC_000010.10:g.74594133C>G, NM_001270680.3:c.20C>G, NM_001270680.2:c.20C>G, NM_001270680.1:c.20C>G, NM_138357.3:c.167C>G, NM_138357.2:c.167C>G, NR_073062.2:n.341C>G, NR_073062.1:n.353C>G, NM_001270679.2:c.167C>G, NM_001270679.1:c.167C>G, NP_001257609.1:p.Ala7Gly, NP_612366.1:p.Ala56Gly, NP_001257608.1:p.Ala56Gly

Select item 14665593799.

rs1466559379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:72868832 (GRCh38)
10:74628590 (GRCh37)
Canonical SPDI:: NC_000010.11:72868831:A:T
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72868832A>T, NC_000010.10:g.74628590A>T, NM_001270680.3:c.479A>T, NM_001270680.2:c.479A>T, NM_001270680.1:c.479A>T, NM_138357.3:c.626A>T, NM_138357.2:c.626A>T, NR_073062.2:n.800A>T, NR_073062.1:n.812A>T, NP_001257609.1:p.Asp160Val, NP_612366.1:p.Asp209Val

Select item 146557434110.

rs1465574341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72859284 (GRCh38)
10:74619042 (GRCh37)
Canonical SPDI:: NC_000010.11:72859283:G:A
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72859284G>A, NC_000010.10:g.74619042G>A, NM_001270680.3:c.181G>A, NM_001270680.2:c.181G>A, NM_001270680.1:c.181G>A, NM_138357.3:c.328G>A, NM_138357.2:c.328G>A, NR_073062.2:n.502G>A, NR_073062.1:n.514G>A, NM_001270679.2:c.328G>A, NM_001270679.1:c.328G>A, NP_001257609.1:p.Val61Ile, NP_612366.1:p.Val110Ile, NP_001257608.1:p.Val110Ile

Select item 146370580111.

rs1463705801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72884357 (GRCh38)
10:74644115 (GRCh37)
Canonical SPDI:: NC_000010.11:72884356:A:G
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.72884357A>G, NC_000010.10:g.74644115A>G, NM_001270680.3:c.806A>G, NM_001270680.2:c.806A>G, NM_001270680.1:c.806A>G, NM_138357.3:c.953A>G, NM_138357.2:c.953A>G, NR_073062.2:n.1127A>G, NR_073062.1:n.1139A>G, NM_001270679.2:c.890A>G, NM_001270679.1:c.890A>G, NP_001257609.1:p.Asn269Ser, NP_612366.1:p.Asn318Ser, NP_001257608.1:p.Asn297Ser

Select item 146294916712.

rs1462949167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:72834365 (GRCh38)
10:74594123 (GRCh37)
Canonical SPDI:: NC_000010.11:72834364:C:G
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72834365C>G, NC_000010.10:g.74594123C>G, NM_001270680.3:c.10C>G, NM_001270680.2:c.10C>G, NM_001270680.1:c.10C>G, NM_138357.3:c.157C>G, NM_138357.2:c.157C>G, NR_073062.2:n.331C>G, NR_073062.1:n.343C>G, NM_001270679.2:c.157C>G, NM_001270679.1:c.157C>G, NP_001257609.1:p.Gln4Glu, NP_612366.1:p.Gln53Glu, NP_001257608.1:p.Gln53Glu

Select item 146248918213.

rs1462489182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:72692259 (GRCh38)
10:74452017 (GRCh37)
Canonical SPDI:: NC_000010.11:72692258:G:A,NC_000010.11:72692258:G:T
Gene:: MCU (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72692259G>A, NC_000010.11:g.72692259G>T, NC_000010.10:g.74452017G>A, NC_000010.10:g.74452017G>T, NM_138357.3:c.108G>A, NM_138357.3:c.108G>T, NM_138357.2:c.108G>A, NM_138357.2:c.108G>T, NR_073062.2:n.117G>A, NR_073062.2:n.117G>T, NR_073062.1:n.129G>A, NR_073062.1:n.129G>T, NM_001270679.2:c.108G>A, NM_001270679.2:c.108G>T, NM_001270679.1:c.108G>A, NM_001270679.1:c.108G>T

Select item 145041042514.

rs1450410425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:72859343 (GRCh38)
10:74619101 (GRCh37)
Canonical SPDI:: NC_000010.11:72859342:A:T
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72859343A>T, NC_000010.10:g.74619101A>T, NM_001270680.3:c.240A>T, NM_001270680.2:c.240A>T, NM_001270680.1:c.240A>T, NM_138357.3:c.387A>T, NM_138357.2:c.387A>T, NR_073062.2:n.561A>T, NR_073062.1:n.573A>T, NM_001270679.2:c.387A>T, NM_001270679.1:c.387A>T

Select item 144925954515.

rs1449259545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72884270 (GRCh38)
10:74644028 (GRCh37)
Canonical SPDI:: NC_000010.11:72884269:A:G
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72884270A>G, NC_000010.10:g.74644028A>G, NM_001270680.3:c.719A>G, NM_001270680.2:c.719A>G, NM_001270680.1:c.719A>G, NM_138357.3:c.866A>G, NM_138357.2:c.866A>G, NR_073062.2:n.1040A>G, NR_073062.1:n.1052A>G, NM_001270679.2:c.803A>G, NM_001270679.1:c.803A>G, NP_001257609.1:p.Tyr240Cys, NP_612366.1:p.Tyr289Cys, NP_001257608.1:p.Tyr268Cys

Select item 144772353216.

rs1447723532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:72860496 (GRCh38)
10:74620254 (GRCh37)
Canonical SPDI:: NC_000010.11:72860495:C:A
Gene:: MCU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.72860496C>A, NC_000010.10:g.74620254C>A, NM_001270680.3:c.318C>A, NM_001270680.2:c.318C>A, NM_001270680.1:c.318C>A, NM_138357.3:c.465C>A, NM_138357.2:c.465C>A, NR_073062.2:n.639C>A, NR_073062.1:n.651C>A, NM_001270679.2:c.465C>A, NM_001270679.1:c.465C>A, NP_001257609.1:p.Asp106Glu, NP_612366.1:p.Asp155Glu, NP_001257608.1:p.Asp155Glu

Select item 144489902817.

rs1444899028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72868736 (GRCh38)
10:74628494 (GRCh37)
Canonical SPDI:: NC_000010.11:72868735:A:G
Gene:: MCU (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72868736A>G, NC_000010.10:g.74628494A>G, NM_001270680.3:c.383A>G, NM_001270680.2:c.383A>G, NM_001270680.1:c.383A>G, NM_138357.3:c.530A>G, NM_138357.2:c.530A>G, NR_073062.2:n.704A>G, NR_073062.1:n.716A>G, NP_001257609.1:p.Asn128Ser, NP_612366.1:p.Asn177Ser

Select item 144405029718.

rs1444050297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:72868723 (GRCh38)
10:74628481 (GRCh37)
Canonical SPDI:: NC_000010.11:72868722:G:C,NC_000010.11:72868722:G:T
Gene:: MCU (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.72868723G>C, NC_000010.11:g.72868723G>T, NC_000010.10:g.74628481G>C, NC_000010.10:g.74628481G>T, NM_001270680.3:c.370G>C, NM_001270680.3:c.370G>T, NM_001270680.2:c.370G>C, NM_001270680.2:c.370G>T, NM_001270680.1:c.370G>C, NM_001270680.1:c.370G>T, NM_138357.3:c.517G>C, NM_138357.3:c.517G>T, NM_138357.2:c.517G>C, NM_138357.2:c.517G>T, NR_073062.2:n.691G>C, NR_073062.2:n.691G>T, NR_073062.1:n.703G>C, NR_073062.1:n.703G>T, NP_001257609.1:p.Ala124Pro, NP_001257609.1:p.Ala124Ser, NP_612366.1:p.Ala173Pro, NP_612366.1:p.Ala173Ser

Select item 143682200619.

rs1436822006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:72884347 (GRCh38)
10:74644105 (GRCh37)
Canonical SPDI:: NC_000010.11:72884346:G:C
Gene:: MCU (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.72884347G>C, NC_000010.10:g.74644105G>C, NM_001270680.3:c.796G>C, NM_001270680.2:c.796G>C, NM_001270680.1:c.796G>C, NM_138357.3:c.943G>C, NM_138357.2:c.943G>C, NR_073062.2:n.1117G>C, NR_073062.1:n.1129G>C, NM_001270679.2:c.880G>C, NM_001270679.1:c.880G>C, NP_001257609.1:p.Glu266Gln, NP_612366.1:p.Glu315Gln, NP_001257608.1:p.Glu294Gln

Select item 143454590920.

rs1434545909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:72871442 (GRCh38)
10:74631200 (GRCh37)
Canonical SPDI:: NC_000010.11:72871441:C:G
Gene:: MCU (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72871442C>G, NC_000010.10:g.74631200C>G, NM_001270680.3:c.576C>G, NM_001270680.2:c.576C>G, NM_001270680.1:c.576C>G, NM_138357.3:c.723C>G, NM_138357.2:c.723C>G, NR_073062.2:n.897C>G, NR_073062.1:n.909C>G, NM_001270679.2:c.660C>G, NM_001270679.1:c.660C>G

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