SNP Links for Protein (Select 24429572) - SNP

Links from Protein

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Select item 14905541441.

rs1490554144 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTAT>- [Show Flanks]
Chromosome:: 9:32631592 (GRCh38)
9:32631590 (GRCh37)
Canonical SPDI:: NC_000009.12:32631584:TCATTATCATTAT:TCATTAT
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TCATTAT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.32631586CATTAT[1], NC_000009.11:g.32631584CATTAT[1], NM_153809.2:c.3984TAATGA[1], NP_722516.1:p.Asp1330_Asn1331del

Select item 14901056982.

rs1490105698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:32631076 (GRCh38)
9:32631074 (GRCh37)
Canonical SPDI:: NC_000009.12:32631075:C:G
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.32631076C>G, NC_000009.11:g.32631074C>G, NM_153809.2:c.4504G>C, NP_722516.1:p.Glu1502Gln

Select item 14895909493.

rs1489590949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:32631904 (GRCh38)
9:32631902 (GRCh37)
Canonical SPDI:: NC_000009.12:32631903:G:T
Gene:: TAF1L (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.32631904G>T, NC_000009.11:g.32631902G>T, NM_153809.2:c.3676C>A, NP_722516.1:p.Gln1226Lys

Select item 14894378594.

rs1489437859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:32630493 (GRCh38)
9:32630491 (GRCh37)
Canonical SPDI:: NC_000009.12:32630492:G:C,NC_000009.12:32630492:G:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.32630493G>C, NC_000009.12:g.32630493G>T, NC_000009.11:g.32630491G>C, NC_000009.11:g.32630491G>T, NM_153809.2:c.5087C>G, NM_153809.2:c.5087C>A, NP_722516.1:p.Ser1696Cys, NP_722516.1:p.Ser1696Tyr

Select item 14890815815.

rs1489081581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:32634095 (GRCh38)
9:32634093 (GRCh37)
Canonical SPDI:: NC_000009.12:32634094:C:A,NC_000009.12:32634094:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.32634095C>A, NC_000009.12:g.32634095C>T, NC_000009.11:g.32634093C>A, NC_000009.11:g.32634093C>T, NM_153809.2:c.1485G>T, NM_153809.2:c.1485G>A

Select item 14885955596.

rs1488595559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32635348 (GRCh38)
9:32635346 (GRCh37)
Canonical SPDI:: NC_000009.12:32635347:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.32635348T>C, NC_000009.11:g.32635346T>C, NM_153809.2:c.232A>G, NP_722516.1:p.Thr78Ala

Select item 14873181047.

rs1487318104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:32635156 (GRCh38)
9:32635154 (GRCh37)
Canonical SPDI:: NC_000009.12:32635155:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
T=0.0005/1 (Korea1K)
HGVS:: NC_000009.12:g.32635156C>T, NC_000009.11:g.32635154C>T, NM_153809.2:c.424G>A, NP_722516.1:p.Asp142Asn

Select item 14871208908.

rs1487120890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:32633033 (GRCh38)
9:32633031 (GRCh37)
Canonical SPDI:: NC_000009.12:32633032:T:A,NC_000009.12:32633032:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.32633033T>A, NC_000009.12:g.32633033T>C, NC_000009.11:g.32633031T>A, NC_000009.11:g.32633031T>C, NM_153809.2:c.2547A>T, NM_153809.2:c.2547A>G, NP_722516.1:p.Ile849Met

Select item 14860627309.

rs1486062730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32635298 (GRCh38)
9:32635296 (GRCh37)
Canonical SPDI:: NC_000009.12:32635297:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32635298T>C, NC_000009.11:g.32635296T>C, NM_153809.2:c.282A>G

Select item 148536000810.

rs1485360008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:32633772 (GRCh38)
9:32633770 (GRCh37)
Canonical SPDI:: NC_000009.12:32633771:A:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32633772A>T, NC_000009.11:g.32633770A>T, NM_153809.2:c.1808T>A, NP_722516.1:p.Phe603Tyr

Select item 148527713811.

rs1485277138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:32631969 (GRCh38)
9:32631967 (GRCh37)
Canonical SPDI:: NC_000009.12:32631968:A:G
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.32631969A>G, NC_000009.11:g.32631967A>G, NM_153809.2:c.3611T>C, NP_722516.1:p.Val1204Ala

Select item 148467715612.

rs1484677156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:32630152 (GRCh38)
9:32630150 (GRCh37)
Canonical SPDI:: NC_000009.12:32630151:G:A
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.32630152G>A, NC_000009.11:g.32630150G>A, NM_153809.2:c.5428C>T, NP_722516.1:p.Pro1810Ser

Select item 148448520013.

rs1484485200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:32631359 (GRCh38)
9:32631357 (GRCh37)
Canonical SPDI:: NC_000009.12:32631358:G:A,NC_000009.12:32631358:G:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32631359G>A, NC_000009.12:g.32631359G>C, NC_000009.11:g.32631357G>A, NC_000009.11:g.32631357G>C, NM_153809.2:c.4221C>T, NM_153809.2:c.4221C>G, NP_722516.1:p.Ile1407Met

Select item 148307267814.

rs1483072678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:32633453 (GRCh38)
9:32633451 (GRCh37)
Canonical SPDI:: NC_000009.12:32633452:T:G
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32633453T>G, NC_000009.11:g.32633451T>G, NM_153809.2:c.2127A>C, NP_722516.1:p.Leu709Phe

Select item 148294533615.

rs1482945336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:32630203 (GRCh38)
9:32630202 (GRCh37)
Canonical SPDI:: NC_000009.12:32630203:A:AA
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.32630204dup, NC_000009.11:g.32630202dup, NM_153809.2:c.5376dup, NP_722516.1:p.Glu1793Ter

Select item 148274317116.

rs1482743171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:32632608 (GRCh38)
9:32632606 (GRCh37)
Canonical SPDI:: NC_000009.12:32632607:G:A
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32632608G>A, NC_000009.11:g.32632606G>A, NM_153809.2:c.2972C>T, NP_722516.1:p.Pro991Leu

Select item 148238238217.

rs1482382382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:32632685 (GRCh38)
9:32632683 (GRCh37)
Canonical SPDI:: NC_000009.12:32632684:A:G
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32632685A>G, NC_000009.11:g.32632683A>G, NM_153809.2:c.2895T>C

Select item 148207331818.

rs1482073318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:32633363 (GRCh38)
9:32633361 (GRCh37)
Canonical SPDI:: NC_000009.12:32633362:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.32633363C>T, NC_000009.11:g.32633361C>T, NM_153809.2:c.2217G>A

Select item 148076912919.

rs1480769129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32631879 (GRCh38)
9:32631877 (GRCh37)
Canonical SPDI:: NC_000009.12:32631878:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.32631879T>C, NC_000009.11:g.32631877T>C, NM_153809.2:c.3701A>G, NP_722516.1:p.Lys1234Arg

Select item 148071942720.

rs1480719427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:32632681 (GRCh38)
9:32632679 (GRCh37)
Canonical SPDI:: NC_000009.12:32632680:G:A
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32632681G>A, NC_000009.11:g.32632679G>A, NM_153809.2:c.2899C>T

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