SNP Links for Protein (Select 14150017) - SNP

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Links from Protein

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Select item 14903588761.

rs1490358876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:85654164 (GRCh38)
11:85365208 (GRCh37)
Canonical SPDI:: NC_000011.10:85654163:C:A,NC_000011.10:85654163:C:T
Gene:: TMEM126A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.85654164C>A, NC_000011.10:g.85654164C>T, NC_000011.9:g.85365208C>A, NC_000011.9:g.85365208C>T, NG_017157.2:g.11246C>A, NG_017157.2:g.11246C>T, NM_032273.4:c.188C>A, NM_032273.4:c.188C>T, NM_032273.3:c.188C>A, NM_032273.3:c.188C>T, NM_001244735.2:c.-23C>A, NM_001244735.2:c.-23C>T, NM_001244735.1:c.-23C>A, NM_001244735.1:c.-23C>T, NP_115649.1:p.Ala63Asp, NP_115649.1:p.Ala63Val

Select item 14812359312.

rs1481235931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:85655653 (GRCh38)
11:85366697 (GRCh37)
Canonical SPDI:: NC_000011.10:85655652:G:A,NC_000011.10:85655652:G:C
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.85655653G>A, NC_000011.10:g.85655653G>C, NC_000011.9:g.85366697G>A, NC_000011.9:g.85366697G>C, NG_017157.2:g.12735G>A, NG_017157.2:g.12735G>C, NM_032273.4:c.340G>A, NM_032273.4:c.340G>C, NM_032273.3:c.340G>A, NM_032273.3:c.340G>C, NM_001244735.2:c.130G>A, NM_001244735.2:c.130G>C, NM_001244735.1:c.130G>A, NM_001244735.1:c.130G>C, NP_115649.1:p.Gly114Ser, NP_115649.1:p.Gly114Arg, NP_001231664.1:p.Gly44Ser, NP_001231664.1:p.Gly44Arg

Select item 14809363423.

rs1480936342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:85656431 (GRCh38)
11:85367475 (GRCh37)
Canonical SPDI:: NC_000011.10:85656430:T:C
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.85656431T>C, NC_000011.9:g.85367475T>C, NG_017157.2:g.13513T>C, NM_032273.4:c.518T>C, NM_032273.3:c.518T>C, NM_001244735.2:c.308T>C, NM_001244735.1:c.308T>C, NP_115649.1:p.Leu173Pro, NP_001231664.1:p.Leu103Pro

Select item 14798396894.

rs1479839689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:85656423 (GRCh38)
11:85367467 (GRCh37)
Canonical SPDI:: NC_000011.10:85656422:A:C
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.85656423A>C, NC_000011.9:g.85367467A>C, NG_017157.2:g.13505A>C, NM_032273.4:c.510A>C, NM_032273.3:c.510A>C, NM_001244735.2:c.300A>C, NM_001244735.1:c.300A>C

Select item 14725844095.

rs1472584409 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:85650294 (GRCh38)
11:85361339 (GRCh37)
Canonical SPDI:: NC_000011.10:85650294::T
Gene:: TMEM126A (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.85650294_85650295insT, NC_000011.9:g.85361338_85361339insT, NG_017157.2:g.7376_7377insT, NM_032273.4:c.39_40insT, NM_032273.3:c.39_40insT, NP_115649.1:p.Ile14fs

Select item 14720287746.

rs1472028774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:85654190 (GRCh38)
11:85365234 (GRCh37)
Canonical SPDI:: NC_000011.10:85654189:G:T
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.85654190G>T, NC_000011.9:g.85365234G>T, NG_017157.2:g.11272G>T, NM_032273.4:c.214G>T, NM_032273.3:c.214G>T, NM_001244735.2:c.4G>T, NM_001244735.1:c.4G>T, NP_115649.1:p.Ala72Ser, NP_001231664.1:p.Ala2Ser

Select item 14651663027.

rs1465166302 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:85656496 (GRCh38)
11:85367540 (GRCh37)
Canonical SPDI:: NC_000011.10:85656495:C:
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.85656496del, NC_000011.9:g.85367540del, NG_017157.2:g.13578del, NM_032273.4:c.583del, NM_032273.3:c.583del, NM_001244735.2:c.373del, NM_001244735.1:c.373del, NP_115649.1:p.His195fs, NP_001231664.1:p.His125fs

Select item 14582970168.

rs1458297016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:85654226 (GRCh38)
11:85365270 (GRCh37)
Canonical SPDI:: NC_000011.10:85654225:A:G
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.85654226A>G, NC_000011.9:g.85365270A>G, NG_017157.2:g.11308A>G, NM_032273.4:c.250A>G, NM_032273.3:c.250A>G, NM_001244735.2:c.40A>G, NM_001244735.1:c.40A>G, NP_115649.1:p.Arg84Gly, NP_001231664.1:p.Arg14Gly

Select item 14539673309.

rs1453967330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:85656319 (GRCh38)
11:85367363 (GRCh37)
Canonical SPDI:: NC_000011.10:85656318:G:A
Gene:: TMEM126A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.85656319G>A, NC_000011.9:g.85367363G>A, NG_017157.2:g.13401G>A, NM_032273.4:c.406G>A, NM_032273.3:c.406G>A, NM_001244735.2:c.196G>A, NM_001244735.1:c.196G>A, NP_115649.1:p.Ala136Thr, NP_001231664.1:p.Ala66Thr

Select item 145260098810.

rs1452600988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:85650293 (GRCh38)
11:85361337 (GRCh37)
Canonical SPDI:: NC_000011.10:85650292:C:T
Gene:: TMEM126A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.85650293C>T, NC_000011.9:g.85361337C>T, NG_017157.2:g.7375C>T, NM_032273.4:c.38C>T, NM_032273.3:c.38C>T, NP_115649.1:p.Thr13Ile

Select item 145095286811.

rs1450952868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:85654092 (GRCh38)
11:85365136 (GRCh37)
Canonical SPDI:: NC_000011.10:85654091:T:C
Gene:: TMEM126A (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.85654092T>C, NC_000011.9:g.85365136T>C, NG_017157.2:g.11174T>C, NM_032273.4:c.116T>C, NM_032273.3:c.116T>C, NM_001244735.2:c.-95T>C, NM_001244735.1:c.-95T>C, NP_115649.1:p.Val39Ala

Select item 144835536312.

rs1448355363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:85654169 (GRCh38)
11:85365213 (GRCh37)
Canonical SPDI:: NC_000011.10:85654168:A:G
Gene:: TMEM126A (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.85654169A>G, NC_000011.9:g.85365213A>G, NG_017157.2:g.11251A>G, NM_032273.4:c.193A>G, NM_032273.3:c.193A>G, NM_001244735.2:c.-18A>G, NM_001244735.1:c.-18A>G, NP_115649.1:p.Ile65Val

Select item 144680125813.

rs1446801258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:85650313 (GRCh38)
11:85361357 (GRCh37)
Canonical SPDI:: NC_000011.10:85650312:A:C
Gene:: TMEM126A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.85650313A>C, NC_000011.9:g.85361357A>C, NG_017157.2:g.7395A>C, NM_032273.4:c.58A>C, NM_032273.3:c.58A>C, NP_115649.1:p.Lys20Gln

Select item 144627241914.

rs1446272419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:85650298 (GRCh38)
11:85361342 (GRCh37)
Canonical SPDI:: NC_000011.10:85650297:G:A,NC_000011.10:85650297:G:C
Gene:: TMEM126A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.85650298G>A, NC_000011.10:g.85650298G>C, NC_000011.9:g.85361342G>A, NC_000011.9:g.85361342G>C, NG_017157.2:g.7380G>A, NG_017157.2:g.7380G>C, NM_032273.4:c.43G>A, NM_032273.4:c.43G>C, NM_032273.3:c.43G>A, NM_032273.3:c.43G>C, NP_115649.1:p.Val15Ile, NP_115649.1:p.Val15Leu

Select item 143980678915.

rs1439806789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:85654116 (GRCh38)
11:85365160 (GRCh37)
Canonical SPDI:: NC_000011.10:85654115:G:A
Gene:: TMEM126A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.85654116G>A, NC_000011.9:g.85365160G>A, NG_017157.2:g.11198G>A, NM_032273.4:c.140G>A, NM_032273.3:c.140G>A, NM_001244735.2:c.-71G>A, NM_001244735.1:c.-71G>A, NP_115649.1:p.Gly47Asp

Select item 143941873016.

rs1439418730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:85654096 (GRCh38)
11:85365140 (GRCh37)
Canonical SPDI:: NC_000011.10:85654095:A:G
Gene:: TMEM126A (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.85654096A>G, NC_000011.9:g.85365140A>G, NG_017157.2:g.11178A>G, NM_032273.4:c.120A>G, NM_032273.3:c.120A>G, NM_001244735.2:c.-91A>G, NM_001244735.1:c.-91A>G

Select item 143607697417.

rs1436076974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:85656438 (GRCh38)
11:85367482 (GRCh37)
Canonical SPDI:: NC_000011.10:85656437:T:A
Gene:: TMEM126A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.85656438T>A, NC_000011.9:g.85367482T>A, NG_017157.2:g.13520T>A, NM_032273.4:c.525T>A, NM_032273.3:c.525T>A, NM_001244735.2:c.315T>A, NM_001244735.1:c.315T>A

Select item 141573686418.

rs1415736864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:85654163 (GRCh38)
11:85365207 (GRCh37)
Canonical SPDI:: NC_000011.10:85654162:G:C
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.85654163G>C, NC_000011.9:g.85365207G>C, NG_017157.2:g.11245G>C, NM_032273.4:c.187G>C, NM_032273.3:c.187G>C, NM_001244735.2:c.-24G>C, NM_001244735.1:c.-24G>C, NP_115649.1:p.Ala63Pro

Select item 141149605019.

rs1411496050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:85650287 (GRCh38)
11:85361331 (GRCh37)
Canonical SPDI:: NC_000011.10:85650286:A:T
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000011.10:g.85650287A>T, NC_000011.9:g.85361331A>T, NG_017157.2:g.7369A>T, NM_032273.4:c.32A>T, NM_032273.3:c.32A>T, NP_115649.1:p.Asn11Ile

Select item 141131766520.

rs1411317665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:85650296 (GRCh38)
11:85361340 (GRCh37)
Canonical SPDI:: NC_000011.10:85650295:T:C
Gene:: TMEM126A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.85650296T>C, NC_000011.9:g.85361340T>C, NG_017157.2:g.7378T>C, NM_032273.4:c.41T>C, NM_032273.3:c.41T>C, NP_115649.1:p.Ile14Thr

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