SNP Links for Protein (Select 74024895) - SNP

Links from Protein

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Select item 14868084141.

rs1486808414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:73466523 (GRCh38)
6:74176246 (GRCh37)
Canonical SPDI:: NC_000006.12:73466522:A:G
Gene:: MTO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73466523A>G, NC_000006.11:g.74176246A>G, NG_032856.2:g.9793A>G, NM_012123.3:c.452A>G, NM_012123.4:c.452A>G, NM_133645.2:c.452A>G, NM_133645.3:c.452A>G, NM_001123226.1:c.452A>G, NM_001123226.2:c.452A>G, XM_047418605.1:c.452A>G, XM_047418606.1:c.452A>G, XM_047418607.1:c.452A>G, NP_036255.2:p.Gln151Arg, NP_598400.1:p.Gln151Arg, NP_001116698.1:p.Gln151Arg, XP_047274561.1:p.Gln151Arg, XP_047274562.1:p.Gln151Arg, XP_047274563.1:p.Gln151Arg

Select item 14854604972.

rs1485460497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:73482224 (GRCh38)
6:74191947 (GRCh37)
Canonical SPDI:: NC_000006.12:73482223:A:C
Gene:: MTO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73482224A>C, NC_000006.11:g.74191947A>C, NG_032856.2:g.25494A>C, NM_012123.3:c.1445A>C, NM_012123.4:c.1445A>C, NM_133645.2:c.1520A>C, NM_133645.3:c.1520A>C, NM_001123226.1:c.1565A>C, NM_001123226.2:c.1565A>C, NP_036255.2:p.Asp482Ala, NP_598400.1:p.Asp507Ala, NP_001116698.1:p.Asp522Ala

Select item 14841765683.

rs1484176568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:73480690 (GRCh38)
6:74190413 (GRCh37)
Canonical SPDI:: NC_000006.12:73480689:A:G
Gene:: MTO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73480690A>G, NC_000006.11:g.74190413A>G, NG_032856.2:g.23960A>G, NM_012123.3:c.1145A>G, NM_012123.4:c.1145A>G, NM_133645.2:c.1220A>G, NM_133645.3:c.1220A>G, NM_001123226.1:c.1145A>G, NM_001123226.2:c.1145A>G, XM_047418605.1:c.1145A>G, XM_047418606.1:c.1145A>G, XM_047418607.1:c.1195A>G, NP_036255.2:p.Tyr382Cys, NP_598400.1:p.Tyr407Cys, NP_001116698.1:p.Tyr382Cys, XP_047274561.1:p.Tyr382Cys, XP_047274562.1:p.Tyr382Cys, XP_047274563.1:p.Met399Val

Select item 14826376864.

rs1482637686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:73482494 (GRCh38)
6:74192217 (GRCh37)
Canonical SPDI:: NC_000006.12:73482493:C:G
Gene:: MTO1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.73482494C>G, NC_000006.11:g.74192217C>G, NG_032856.2:g.25764C>G, NM_012123.3:c.1511C>G, NM_012123.4:c.1511C>G, NM_133645.2:c.1586C>G, NM_133645.3:c.1586C>G, NM_001123226.1:c.1631C>G, NM_001123226.2:c.1631C>G, XM_047418605.1:c.1306C>G, NP_036255.2:p.Ala504Gly, NP_598400.1:p.Ala529Gly, NP_001116698.1:p.Ala544Gly, XP_047274561.1:p.Leu436Val

Select item 14819196385.

rs1481919638 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:73466376 (GRCh38)
6:74176099 (GRCh37)
Canonical SPDI:: NC_000006.12:73466375:A:
Gene:: MTO1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73466376del, NC_000006.11:g.74176099del, NG_032856.2:g.9646del, NM_012123.3:c.385del, NM_012123.4:c.385del, NM_133645.2:c.385del, NM_133645.3:c.385del, NM_001123226.1:c.385del, NM_001123226.2:c.385del, XM_047418605.1:c.385del, XM_047418606.1:c.385del, XM_047418607.1:c.385del, NP_036255.2:p.Ile129fs, NP_598400.1:p.Ile129fs, NP_001116698.1:p.Ile129fs, XP_047274561.1:p.Ile129fs, XP_047274562.1:p.Ile129fs, XP_047274563.1:p.Ile129fs

Select item 14802182566.

rs1480218256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:73466387 (GRCh38)
6:74176110 (GRCh37)
Canonical SPDI:: NC_000006.12:73466386:A:G
Gene:: MTO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73466387A>G, NC_000006.11:g.74176110A>G, NG_032856.2:g.9657A>G, NM_012123.3:c.396A>G, NM_012123.4:c.396A>G, NM_133645.2:c.396A>G, NM_133645.3:c.396A>G, NM_001123226.1:c.396A>G, NM_001123226.2:c.396A>G, XM_047418605.1:c.396A>G, XM_047418606.1:c.396A>G, XM_047418607.1:c.396A>G

Select item 14722948447.

rs1472294844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73482197 (GRCh38)
6:74191920 (GRCh37)
Canonical SPDI:: NC_000006.12:73482196:G:A
Gene:: MTO1 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.73482197G>A, NC_000006.11:g.74191920G>A, NG_032856.2:g.25467G>A, NM_012123.3:c.1418G>A, NM_012123.4:c.1418G>A, NM_133645.2:c.1493G>A, NM_133645.3:c.1493G>A, NM_001123226.1:c.1538G>A, NM_001123226.2:c.1538G>A, NP_036255.2:p.Arg473His, NP_598400.1:p.Arg498His, NP_001116698.1:p.Arg513His

Select item 14720500758.

rs1472050075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73466555 (GRCh38)
6:74176278 (GRCh37)
Canonical SPDI:: NC_000006.12:73466554:G:A
Gene:: MTO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73466555G>A, NC_000006.11:g.74176278G>A, NG_032856.2:g.9825G>A, NM_012123.3:c.484G>A, NM_012123.4:c.484G>A, NM_133645.2:c.484G>A, NM_133645.3:c.484G>A, NM_001123226.1:c.484G>A, NM_001123226.2:c.484G>A, XM_047418605.1:c.484G>A, XM_047418606.1:c.484G>A, XM_047418607.1:c.484G>A, NP_036255.2:p.Glu162Lys, NP_598400.1:p.Glu162Lys, NP_001116698.1:p.Glu162Lys, XP_047274561.1:p.Glu162Lys, XP_047274562.1:p.Glu162Lys, XP_047274563.1:p.Glu162Lys

Select item 14717984899.

rs1471798489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73466235 (GRCh38)
6:74175958 (GRCh37)
Canonical SPDI:: NC_000006.12:73466234:G:A
Gene:: MTO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.73466235G>A, NC_000006.11:g.74175958G>A, NG_032856.2:g.9505G>A, NM_012123.3:c.244G>A, NM_012123.4:c.244G>A, NM_133645.2:c.244G>A, NM_133645.3:c.244G>A, NM_001123226.1:c.244G>A, NM_001123226.2:c.244G>A, XM_047418605.1:c.244G>A, XM_047418606.1:c.244G>A, XM_047418607.1:c.244G>A, NP_036255.2:p.Gly82Ser, NP_598400.1:p.Gly82Ser, NP_001116698.1:p.Gly82Ser, XP_047274561.1:p.Gly82Ser, XP_047274562.1:p.Gly82Ser, XP_047274563.1:p.Gly82Ser

Select item 146941163610.

rs1469411636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:73466320 (GRCh38)
6:74176043 (GRCh37)
Canonical SPDI:: NC_000006.12:73466319:A:C
Gene:: MTO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.73466320A>C, NC_000006.11:g.74176043A>C, NG_032856.2:g.9590A>C, NM_012123.3:c.329A>C, NM_012123.4:c.329A>C, NM_133645.2:c.329A>C, NM_133645.3:c.329A>C, NM_001123226.1:c.329A>C, NM_001123226.2:c.329A>C, XM_047418605.1:c.329A>C, XM_047418606.1:c.329A>C, XM_047418607.1:c.329A>C, NP_036255.2:p.His110Pro, NP_598400.1:p.His110Pro, NP_001116698.1:p.His110Pro, XP_047274561.1:p.His110Pro, XP_047274562.1:p.His110Pro, XP_047274563.1:p.His110Pro

Select item 146913257711.

rs1469132577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:73473411 (GRCh38)
6:74183134 (GRCh37)
Canonical SPDI:: NC_000006.12:73473410:G:C
Gene:: MTO1 (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_000006.12:g.73473411G>C, NC_000006.11:g.74183134G>C, NG_032856.2:g.16681G>C, NM_012123.3:c.582G>C, NM_012123.4:c.582G>C, NM_133645.2:c.582G>C, NM_133645.3:c.582G>C, NM_001123226.1:c.582G>C, NM_001123226.2:c.582G>C, XM_047418605.1:c.582G>C, XM_047418606.1:c.582G>C, XM_047418607.1:c.582G>C

Select item 146659958712.

rs1466599587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73480040 (GRCh38)
6:74189763 (GRCh37)
Canonical SPDI:: NC_000006.12:73480039:G:A
Gene:: MTO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73480040G>A, NC_000006.11:g.74189763G>A, NG_032856.2:g.23310G>A, NM_012123.3:c.1043G>A, NM_012123.4:c.1043G>A, NM_133645.2:c.1043G>A, NM_133645.3:c.1043G>A, NM_001123226.1:c.1043G>A, NM_001123226.2:c.1043G>A, XM_047418605.1:c.1043G>A, XM_047418606.1:c.1043G>A, XM_047418607.1:c.1043G>A, NP_036255.2:p.Gly348Glu, NP_598400.1:p.Gly348Glu, NP_001116698.1:p.Gly348Glu, XP_047274561.1:p.Gly348Glu, XP_047274562.1:p.Gly348Glu, XP_047274563.1:p.Gly348Glu

Select item 146574623713.

rs1465746237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73497867 (GRCh38)
6:74207590 (GRCh37)
Canonical SPDI:: NC_000006.12:73497866:G:A
Gene:: MTO1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.73497867G>A, NC_000006.11:g.74207590G>A, NG_032856.2:g.41137G>A, NM_012123.3:c.1888G>A, NM_012123.4:c.1888G>A, NM_133645.2:c.1963G>A, NM_133645.3:c.1963G>A, NM_001123226.1:c.2008G>A, NM_001123226.2:c.2008G>A, NP_036255.2:p.Glu630Lys, NP_598400.1:p.Glu655Lys, NP_001116698.1:p.Glu670Lys

Select item 146441514014.

rs1464415140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73473442 (GRCh38)
6:74183165 (GRCh37)
Canonical SPDI:: NC_000006.12:73473441:T:C
Gene:: MTO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73473442T>C, NC_000006.11:g.74183165T>C, NG_032856.2:g.16712T>C, NM_012123.3:c.613T>C, NM_012123.4:c.613T>C, NM_133645.2:c.613T>C, NM_133645.3:c.613T>C, NM_001123226.1:c.613T>C, NM_001123226.2:c.613T>C, XM_047418605.1:c.613T>C, XM_047418606.1:c.613T>C, XM_047418607.1:c.613T>C

Select item 146395881115.

rs1463958811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:73500606 (GRCh38)
6:74210329 (GRCh37)
Canonical SPDI:: NC_000006.12:73500605:A:C
Gene:: MTO1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0082/15 (Korea1K)
HGVS:: NC_000006.12:g.73500606A>C, NC_000006.11:g.74210329A>C, NG_032856.2:g.43876A>C, NM_012123.3:c.1950A>C, NM_012123.4:c.1950A>C, NM_133645.2:c.2025A>C, NM_133645.3:c.2025A>C, NM_001123226.1:c.2070A>C, NM_001123226.2:c.2070A>C

Select item 146345346416.

rs1463453464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73482230 (GRCh38)
6:74191953 (GRCh37)
Canonical SPDI:: NC_000006.12:73482229:G:A
Gene:: MTO1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_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_000006.12:g.73482230G>A, NC_000006.11:g.74191953G>A, NG_032856.2:g.25500G>A, NM_012123.3:c.1451G>A, NM_012123.4:c.1451G>A, NM_133645.2:c.1526G>A, NM_133645.3:c.1526G>A, NM_001123226.1:c.1571G>A, NM_001123226.2:c.1571G>A, NP_036255.2:p.Arg484Gln, NP_598400.1:p.Arg509Gln, NP_001116698.1:p.Arg524Gln

Select item 146341006417.

rs1463410064 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:73482581 (GRCh38)
6:74192304 (GRCh37)
Canonical SPDI:: NC_000006.12:73482580:CA:
Gene:: MTO1 (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.73482581_73482582del, NC_000006.11:g.74192304_74192305del, NG_032856.2:g.25851_25852del, NM_012123.3:c.1598_1599del, NM_012123.4:c.1598_1599del, NM_133645.2:c.1673_1674del, NM_133645.3:c.1673_1674del, NM_001123226.1:c.1718_1719del, NM_001123226.2:c.1718_1719del, XM_047418605.1:c.*76_*77del, NP_036255.2:p.Pro533fs, NP_598400.1:p.Pro558fs, NP_001116698.1:p.Pro573fs

Select item 146282370918.

rs1462823709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:73461983 (GRCh38)
6:74171706 (GRCh37)
Canonical SPDI:: NC_000006.12:73461982:T:C,NC_000006.12:73461982:T:G
Gene:: MTO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73461983T>C, NC_000006.12:g.73461983T>G, NC_000006.11:g.74171706T>C, NC_000006.11:g.74171706T>G, NG_032856.2:g.5253T>C, NG_032856.2:g.5253T>G, NM_012123.3:c.129T>C, NM_012123.3:c.129T>G, NM_012123.4:c.129T>C, NM_012123.4:c.129T>G, NM_133645.2:c.129T>C, NM_133645.2:c.129T>G, NM_133645.3:c.129T>C, NM_133645.3:c.129T>G, NM_001123226.1:c.129T>C, NM_001123226.1:c.129T>G, NM_001123226.2:c.129T>C, NM_001123226.2:c.129T>G, XM_047418605.1:c.129T>C, XM_047418605.1:c.129T>G, XM_047418606.1:c.129T>C, XM_047418606.1:c.129T>G, XM_047418607.1:c.129T>C, XM_047418607.1:c.129T>G

Select item 146119175919.

rs1461191759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73466321 (GRCh38)
6:74176044 (GRCh37)
Canonical SPDI:: NC_000006.12:73466320:T:C
Gene:: MTO1 (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_000006.12:g.73466321T>C, NC_000006.11:g.74176044T>C, NG_032856.2:g.9591T>C, NM_012123.3:c.330T>C, NM_012123.4:c.330T>C, NM_133645.2:c.330T>C, NM_133645.3:c.330T>C, NM_001123226.1:c.330T>C, NM_001123226.2:c.330T>C, XM_047418605.1:c.330T>C, XM_047418606.1:c.330T>C, XM_047418607.1:c.330T>C

Select item 145925279620.

rs1459252796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:73482169 (GRCh38)
6:74191892 (GRCh37)
Canonical SPDI:: NC_000006.12:73482168:C:T
Gene:: MTO1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.73482169C>T, NC_000006.11:g.74191892C>T, NG_032856.2:g.25439C>T, NM_012123.3:c.1390C>T, NM_012123.4:c.1390C>T, NM_133645.2:c.1465C>T, NM_133645.3:c.1465C>T, NM_001123226.1:c.1510C>T, NM_001123226.2:c.1510C>T, NP_036255.2:p.Arg464Cys, NP_598400.1:p.Arg489Cys, NP_001116698.1:p.Arg504Cys

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