SNP Links for Protein (Select 28603830) - SNP

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Links from Protein

Items: 1 to 20 of 90

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Select item 14763282091.

rs1476328209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:44541986 (GRCh38)
X:44401232 (GRCh37)
Canonical SPDI:: NC_000023.11:44541985:G:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.44541986G>T, NC_000023.10:g.44401232G>T, NG_021288.1:g.5990C>A, NM_173794.4:c.144C>A, NM_173794.3:c.144C>A, NP_776155.1:p.Tyr48Ter

Select item 14741016232.

rs1474101623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:44541993 (GRCh38)
X:44401239 (GRCh37)
Canonical SPDI:: NC_000023.11:44541992:T:C
Gene:: FUNDC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.44541993T>C, NC_000023.10:g.44401239T>C, NG_021288.1:g.5983A>G, NM_173794.4:c.137A>G, NM_173794.3:c.137A>G, NP_776155.1:p.Glu46Gly

Select item 14660087683.

rs1466008768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:44542824 (GRCh38)
X:44402070 (GRCh37)
Canonical SPDI:: NC_000023.11:44542823:G:A
Gene:: FUNDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.44542824G>A, NC_000023.10:g.44402070G>A, NG_021288.1:g.5152C>T, NM_173794.4:c.9C>T, NM_173794.3:c.9C>T

Select item 14599321634.

rs1459932163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:44527365 (GRCh38)
X:44386611 (GRCh37)
Canonical SPDI:: NC_000023.11:44527364:T:A,NC_000023.11:44527364:T:C
Gene:: FUNDC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44527365T>A, NC_000023.11:g.44527365T>C, NC_000023.10:g.44386611T>A, NC_000023.10:g.44386611T>C, NG_021288.1:g.20611A>T, NG_021288.1:g.20611A>G, NM_173794.4:c.262A>T, NM_173794.4:c.262A>G, NM_173794.3:c.262A>T, NM_173794.3:c.262A>G, NP_776155.1:p.Ile88Phe, NP_776155.1:p.Ile88Val

Select item 14367631755.

rs1436763175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:44542002 (GRCh38)
X:44401248 (GRCh37)
Canonical SPDI:: NC_000023.11:44542001:G:A
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.44542002G>A, NC_000023.10:g.44401248G>A, NG_021288.1:g.5974C>T, NM_173794.4:c.128C>T, NM_173794.3:c.128C>T, NP_776155.1:p.Pro43Leu

Select item 14347847046.

rs1434784704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:44542022 (GRCh38)
X:44401268 (GRCh37)
Canonical SPDI:: NC_000023.11:44542021:C:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44542022C>T, NC_000023.10:g.44401268C>T, NG_021288.1:g.5954G>A, NM_173794.4:c.108G>A, NM_173794.3:c.108G>A

Select item 14329504467.

rs1432950446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:44542812 (GRCh38)
X:44402059 (GRCh37)
Canonical SPDI:: NC_000023.11:44542812:GGGGGG:GGGGGGG
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
G=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.44542818dup, NC_000023.10:g.44402064dup, NG_021288.1:g.5163dup, NM_173794.4:c.20dup, NM_173794.3:c.20dup, NP_776155.1:p.Pro8fs

Select item 14291290588.

rs1429129058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:44527324 (GRCh38)
X:44386570 (GRCh37)
Canonical SPDI:: NC_000023.11:44527323:T:C
Gene:: FUNDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44527324T>C, NC_000023.10:g.44386570T>C, NG_021288.1:g.20652A>G, NM_173794.4:c.303A>G, NM_173794.3:c.303A>G

Select item 14256542139.

rs1425654213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:44538487 (GRCh38)
X:44397733 (GRCh37)
Canonical SPDI:: NC_000023.11:44538486:C:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44538487C>T, NC_000023.10:g.44397733C>T, NG_021288.1:g.9489G>A, NM_173794.4:c.241G>A, NM_173794.3:c.241G>A, NP_776155.1:p.Gly81Ser

Select item 141196618810.

rs1411966188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:44538534 (GRCh38)
X:44397780 (GRCh37)
Canonical SPDI:: NC_000023.11:44538533:C:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44538534C>T, NC_000023.10:g.44397780C>T, NG_021288.1:g.9442G>A, NM_173794.4:c.194G>A, NM_173794.3:c.194G>A, NP_776155.1:p.Gly65Glu

Select item 141153920411.

rs1411539204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:44542045 (GRCh38)
X:44401291 (GRCh37)
Canonical SPDI:: NC_000023.11:44542044:T:C
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44542045T>C, NC_000023.10:g.44401291T>C, NG_021288.1:g.5931A>G, NM_173794.4:c.85A>G, NM_173794.3:c.85A>G, NP_776155.1:p.Arg29Gly

Select item 141094218512.

rs1410942185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:44524212 (GRCh38)
X:44383458 (GRCh37)
Canonical SPDI:: NC_000023.11:44524211:C:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44524212C>T, NC_000023.10:g.44383458C>T, NG_021288.1:g.23764G>A, NM_173794.4:c.454G>A, NM_173794.3:c.454G>A, NP_776155.1:p.Gly152Arg

Select item 139233140413.

rs1392331404 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAAAATGGT [Show Flanks]
Chromosome:: X:44527299 (GRCh38)
X:44386546 (GRCh37)
Canonical SPDI:: NC_000023.11:44527299:T:TTAAAAATGGT
Gene:: FUNDC1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.44527300_44527301insTAAAAATGGT, NC_000023.10:g.44386546_44386547insTAAAAATGGT, NG_021288.1:g.20676_20677insCCATTTTTAA, NM_173794.4:c.327_328insCCATTTTTAA, NM_173794.3:c.327_328insCCATTTTTAA, NP_776155.1:p.Lys110fs

Select item 137345405214.

rs1373454052 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: X:44541988 (GRCh38)
X:44401234 (GRCh37)
Canonical SPDI:: NC_000023.11:44541986:TATT:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.44541988_44541990del, NC_000023.10:g.44401234_44401236del, NG_021288.1:g.5987_5989del, NM_173794.4:c.141_143del, NM_173794.3:c.141_143del, NP_776155.1:p.Lys47_Tyr48delinsAsn

Select item 136336226415.

rs1363362264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:44542810 (GRCh38)
X:44402056 (GRCh37)
Canonical SPDI:: NC_000023.11:44542809:G:A
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.44542810G>A, NC_000023.10:g.44402056G>A, NG_021288.1:g.5166C>T, NM_173794.4:c.23C>T, NM_173794.3:c.23C>T, NP_776155.1:p.Pro8Leu

Select item 135576886916.

rs1355768869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:44542814 (GRCh38)
X:44402060 (GRCh37)
Canonical SPDI:: NC_000023.11:44542813:G:C
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000048/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
C=0.000027/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44542814G>C, NC_000023.10:g.44402060G>C, NG_021288.1:g.5162C>G, NM_173794.4:c.19C>G, NM_173794.3:c.19C>G, NP_776155.1:p.Pro7Ala

Select item 133582280017.

rs1335822800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:44542817 (GRCh38)
X:44402063 (GRCh37)
Canonical SPDI:: NC_000023.11:44542816:G:A,NC_000023.11:44542816:G:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000009/1 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.44542817G>A, NC_000023.11:g.44542817G>T, NC_000023.10:g.44402063G>A, NC_000023.10:g.44402063G>T, NG_021288.1:g.5159C>T, NG_021288.1:g.5159C>A, NM_173794.4:c.16C>T, NM_173794.4:c.16C>A, NM_173794.3:c.16C>T, NM_173794.3:c.16C>A, NP_776155.1:p.Pro6Ser, NP_776155.1:p.Pro6Thr

Select item 132969785318.

rs1329697853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:44524215 (GRCh38)
X:44383461 (GRCh37)
Canonical SPDI:: NC_000023.11:44524214:G:A
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.44524215G>A, NC_000023.10:g.44383461G>A, NG_021288.1:g.23761C>T, NM_173794.4:c.451C>T, NM_173794.3:c.451C>T, NP_776155.1:p.Leu151Phe

Select item 132013791519.

rs1320137915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:44542809 (GRCh38)
X:44402055 (GRCh37)
Canonical SPDI:: NC_000023.11:44542808:G:A,NC_000023.11:44542808:G:C,NC_000023.11:44542808:G:T
Gene:: FUNDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
A=0.000045/1 (TOMMO)
T=0.000343/1 (KOREAN)
HGVS:: NC_000023.11:g.44542809G>A, NC_000023.11:g.44542809G>C, NC_000023.11:g.44542809G>T, NC_000023.10:g.44402055G>A, NC_000023.10:g.44402055G>C, NC_000023.10:g.44402055G>T, NG_021288.1:g.5167C>T, NG_021288.1:g.5167C>G, NG_021288.1:g.5167C>A, NM_173794.4:c.24C>T, NM_173794.4:c.24C>G, NM_173794.4:c.24C>A, NM_173794.3:c.24C>T, NM_173794.3:c.24C>G, NM_173794.3:c.24C>A

Select item 130147436220.

rs1301474362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:44527317 (GRCh38)
X:44386563 (GRCh37)
Canonical SPDI:: NC_000023.11:44527316:T:C
Gene:: FUNDC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.44527317T>C, NC_000023.10:g.44386563T>C, NG_021288.1:g.20659A>G, NM_173794.4:c.310A>G, NM_173794.3:c.310A>G, NP_776155.1:p.Lys104Glu