SNP Links for Protein (Select 19747273) - SNP

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Links from Protein

Items: 1 to 20 of 75

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Select item 14597247981.

rs1459724798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:52815212 (GRCh38)
X:52844236 (GRCh37)
Canonical SPDI:: NC_000023.11:52815211:A:G
Gene:: XAGE5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.52815212A>G, NW_004070877.1:g.2528327A>G, NC_000023.10:g.52844236A>G, NM_130775.3:c.299A>G, NM_130775.2:c.299A>G, NM_001386970.1:c.299A>G, NP_570131.1:p.Glu100Gly, NP_001373899.1:p.Glu100Gly

Select item 14535601732.

rs1453560173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:52813214 (GRCh38)
X:52842238 (GRCh37)
Canonical SPDI:: NC_000023.11:52813213:A:G
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.52813214A>G, NW_004070877.1:g.2526329A>G, NC_000023.10:g.52842238A>G, NM_130775.3:c.147A>G, NM_130775.2:c.147A>G, NM_001386970.1:c.147A>G

Select item 14507113223.

rs1450711322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:52815125 (GRCh38)
X:52844149 (GRCh37)
Canonical SPDI:: NC_000023.11:52815124:C:G
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.52815125C>G, NW_004070877.1:g.2528240C>G, NC_000023.10:g.52844149C>G, NM_130775.3:c.212C>G, NM_130775.2:c.212C>G, NM_001386970.1:c.212C>G, NP_570131.1:p.Ser71Cys, NP_001373899.1:p.Ser71Cys

Select item 14407690274.

rs1440769027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52813208 (GRCh38)
X:52842232 (GRCh37)
Canonical SPDI:: NC_000023.11:52813207:G:A
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.52813208G>A, NW_004070877.1:g.2526323G>A, NC_000023.10:g.52842232G>A, NM_130775.3:c.141G>A, NM_130775.2:c.141G>A, NM_001386970.1:c.141G>A

Select item 14024786585.

rs1402478658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:52812636 (GRCh38)
X:52841660 (GRCh37)
Canonical SPDI:: NC_000023.11:52812635:C:T
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.52812636C>T, NW_004070877.1:g.2525751C>T, NC_000023.10:g.52841660C>T, NM_130775.3:c.70C>T, NM_130775.2:c.70C>T, NM_001386970.1:c.70C>T, NP_570131.1:p.Leu24Phe, NP_001373899.1:p.Leu24Phe

Select item 13923626136.

rs1392362613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:52813183 (GRCh38)
X:52842207 (GRCh37)
Canonical SPDI:: NC_000023.11:52813182:A:G
Gene:: XAGE5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.52813183A>G, NW_004070877.1:g.2526298A>G, NC_000023.10:g.52842207A>G, NM_130775.3:c.116A>G, NM_130775.2:c.116A>G, NM_001386970.1:c.116A>G, NP_570131.1:p.Glu39Gly, NP_001373899.1:p.Glu39Gly

Select item 13762056747.

rs1376205674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52812601 (GRCh38)
X:52841625 (GRCh37)
Canonical SPDI:: NC_000023.11:52812600:G:A
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.52812601G>A, NW_004070877.1:g.2525716G>A, NC_000023.10:g.52841625G>A, NM_130775.3:c.35G>A, NM_130775.2:c.35G>A, NM_001386970.1:c.35G>A, NP_570131.1:p.Arg12Gln, NP_001373899.1:p.Arg12Gln

Select item 13393564788.

rs1339356478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:52815101 (GRCh38)
X:52844125 (GRCh37)
Canonical SPDI:: NC_000023.11:52815100:T:A
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.52815101T>A, NW_004070877.1:g.2528216T>A, NC_000023.10:g.52844125T>A, NM_130775.3:c.188T>A, NM_130775.2:c.188T>A, NM_001386970.1:c.188T>A, NP_570131.1:p.Leu63Gln, NP_001373899.1:p.Leu63Gln

Select item 13364098429.

rs1336409842 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:52815149 (GRCh38)
X:52844173 (GRCh37)
Canonical SPDI:: NC_000023.11:52815148:G:
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.52815149del, NW_004070877.1:g.2528264del, NC_000023.10:g.52844173del, NM_130775.3:c.236del, NM_130775.2:c.236del, NM_001386970.1:c.236del, NP_570131.1:p.Cys79fs, NP_001373899.1:p.Cys79fs

Select item 132825784810.

rs1328257848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:52812611 (GRCh38)
X:52841635 (GRCh37)
Canonical SPDI:: NC_000023.11:52812610:A:T
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.52812611A>T, NW_004070877.1:g.2525726A>T, NC_000023.10:g.52841635A>T, NM_130775.3:c.45A>T, NM_130775.2:c.45A>T, NM_001386970.1:c.45A>T

Select item 132186747611.

rs1321867476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52812580 (GRCh38)
X:52841604 (GRCh37)
Canonical SPDI:: NC_000023.11:52812579:G:A
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.52812580G>A, NW_004070877.1:g.2525695G>A, NC_000023.10:g.52841604G>A, NM_130775.3:c.14G>A, NM_130775.2:c.14G>A, NM_001386970.1:c.14G>A, NP_570131.1:p.Gly5Glu, NP_001373899.1:p.Gly5Glu

Select item 131059347012.

rs1310593470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:52812603 (GRCh38)
X:52841627 (GRCh37)
Canonical SPDI:: NC_000023.11:52812602:T:C
Gene:: XAGE5 (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.52812603T>C, NW_004070877.1:g.2525718T>C, NC_000023.10:g.52841627T>C, NM_130775.3:c.37T>C, NM_130775.2:c.37T>C, NM_001386970.1:c.37T>C, NP_570131.1:p.Cys13Arg, NP_001373899.1:p.Cys13Arg

Select item 131045470013.

rs1310454700 has merged into rs374503620 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: X:52813170 (GRCh38)
X:52842194 (GRCh37)
Canonical SPDI:: NC_000023.11:52813164:AAGAAGAA:AAGAA
Gene:: XAGE5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0.004341/100 (ALFA)
-=0./0 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.00193/353 (GnomAD_exomes)
-=0.002558/217 (ExAC)
-=0.00777/804 (GnomAD)
-=0.007908/38 (1000Genomes)
-=0.008587/2273 (TOPMED)
-=0.019696/201 (GoESP)
HGVS:: NC_000023.11:g.52813167GAA[1], NW_004070877.1:g.2526282GAA[1], NC_000023.10:g.52842191GAA[1], NM_130775.3:c.100GAA[1], NM_130775.2:c.100GAA[1], NM_001386970.1:c.100GAA[1], NP_570131.1:p.Glu35del, NP_001373899.1:p.Glu35del

Select item 129080651714.

rs1290806517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:52813217 (GRCh38)
X:52842241 (GRCh37)
Canonical SPDI:: NC_000023.11:52813216:A:G,NC_000023.11:52813216:A:T
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00001/1 (GnomAD)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.52813217A>G, NC_000023.11:g.52813217A>T, NW_004070877.1:g.2526332A>G, NW_004070877.1:g.2526332A>T, NC_000023.10:g.52842241A>G, NC_000023.10:g.52842241A>T, NM_130775.3:c.150A>G, NM_130775.3:c.150A>T, NM_130775.2:c.150A>G, NM_130775.2:c.150A>T, NM_001386970.1:c.150A>G, NM_001386970.1:c.150A>T, NP_570131.1:p.Glu50Asp, NP_001373899.1:p.Glu50Asp

Select item 126891537015.

rs1268915370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:52815103 (GRCh38)
X:52844127 (GRCh37)
Canonical SPDI:: NC_000023.11:52815102:G:T
Gene:: XAGE5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000019/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.52815103G>T, NW_004070877.1:g.2528218G>T, NC_000023.10:g.52844127G>T, NM_130775.3:c.190G>T, NM_130775.2:c.190G>T, NM_001386970.1:c.190G>T, NP_570131.1:p.Glu64Ter, NP_001373899.1:p.Glu64Ter

Select item 126612033316.

rs1266120333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52813140 (GRCh38)
X:52842164 (GRCh37)
Canonical SPDI:: NC_000023.11:52813139:G:A
Gene:: XAGE5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.52813140G>A, NW_004070877.1:g.2526255G>A, NC_000023.10:g.52842164G>A, NM_130775.3:c.73G>A, NM_130775.2:c.73G>A, NM_001386970.1:c.73G>A, NP_570131.1:p.Glu25Lys, NP_001373899.1:p.Glu25Lys

Select item 118628985117.

rs1186289851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52818198 (GRCh38)
X:52847222 (GRCh37)
Canonical SPDI:: NC_000023.11:52818197:G:A
Gene:: XAGE5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.52818198G>A, NW_004070877.1:g.2531313G>A, NC_000023.10:g.52847222G>A, NM_130775.3:c.312G>A, NM_130775.2:c.312G>A, NM_001386970.1:c.312G>A

Select item 117709592318.

rs1177095923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52813213 (GRCh38)
X:52842237 (GRCh37)
Canonical SPDI:: NC_000023.11:52813212:G:A
Gene:: XAGE5 (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.52813213G>A, NW_004070877.1:g.2526328G>A, NC_000023.10:g.52842237G>A, NM_130775.3:c.146G>A, NM_130775.2:c.146G>A, NM_001386970.1:c.146G>A, NP_570131.1:p.Arg49Lys, NP_001373899.1:p.Arg49Lys

Select item 86896553719.

rs868965537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:52813145 (GRCh38)
X:52842169 (GRCh37)
Canonical SPDI:: NC_000023.11:52813144:C:T
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.009/1 (Qatari)
HGVS:: NC_000023.11:g.52813145C>T, NW_004070877.1:g.2526260C>T, NC_000023.10:g.52842169C>T, NM_130775.3:c.78C>T, NM_130775.2:c.78C>T, NM_001386970.1:c.78C>T

Select item 78278423420.

rs782784234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:52815107 (GRCh38)
X:52844131 (GRCh37)
Canonical SPDI:: NC_000023.11:52815106:C:G,NC_000023.11:52815106:C:T
Gene:: XAGE5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.52815107C>G, NC_000023.11:g.52815107C>T, NW_004070877.1:g.2528222C>G, NW_004070877.1:g.2528222C>T, NC_000023.10:g.52844131C>G, NC_000023.10:g.52844131C>T, NM_130775.3:c.194C>G, NM_130775.3:c.194C>T, NM_130775.2:c.194C>G, NM_130775.2:c.194C>T, NM_001386970.1:c.194C>G, NM_001386970.1:c.194C>T, NP_570131.1:p.Ala65Gly, NP_570131.1:p.Ala65Val, NP_001373899.1:p.Ala65Gly, NP_001373899.1:p.Ala65Val

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