SNP Links for Protein (Select 1099520069) - SNP

Select item 14885082561.

rs1488508256 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:26494895 (GRCh38)
22:26890862 (GRCh37)
Canonical SPDI:: NC_000022.11:26494895:G:GG
Gene:: TFIP11 (Varview), SRRD (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.26494896dup, NC_000022.10:g.26890862dup, NM_012143.4:c.1893dup, NM_012143.3:c.1893dup, NM_012143.2:c.1893dup, NM_001008697.3:c.1893dup, NM_001008697.2:c.1893dup, NM_001008697.1:c.1893dup, NM_001346858.2:c.1893dup, NM_001346858.1:c.1893dup, NM_001346857.2:c.1893dup, NM_001346857.1:c.1893dup, NM_001346861.2:c.1893dup, NM_001346861.1:c.1893dup, NM_001346859.2:c.1893dup, NM_001346859.1:c.1893dup, NM_001346862.2:c.1800dup, NM_001346862.1:c.1800dup, NP_036275.1:p.Met632fs, NP_001008697.1:p.Met632fs, NP_001333787.1:p.Met632fs, NP_001333786.1:p.Met632fs, NP_001333790.1:p.Met632fs, NP_001333788.1:p.Met632fs, NP_001333791.1:p.Met601fs

Select item 14880291232.

rs1488029123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 22:26496237 (GRCh38)
22:26892204 (GRCh37)
Canonical SPDI:: NC_000022.11:26496237:GTG:GTGTG
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.26496239_26496240dup, NC_000022.10:g.26892205_26892206dup, NM_012143.4:c.1683_1684dup, NM_012143.3:c.1683_1684dup, NM_012143.2:c.1683_1684dup, NM_001008697.3:c.1683_1684dup, NM_001008697.2:c.1683_1684dup, NM_001008697.1:c.1683_1684dup, NM_001346858.2:c.1683_1684dup, NM_001346858.1:c.1683_1684dup, NM_001346857.2:c.1683_1684dup, NM_001346857.1:c.1683_1684dup, NM_001346861.2:c.1683_1684dup, NM_001346861.1:c.1683_1684dup, NM_001346859.2:c.1683_1684dup, NM_001346859.1:c.1683_1684dup, NM_001346862.2:c.1590_1591dup, NM_001346862.1:c.1590_1591dup, NP_036275.1:p.Arg562fs, NP_001008697.1:p.Arg562fs, NP_001333787.1:p.Arg562fs, NP_001333786.1:p.Arg562fs, NP_001333790.1:p.Arg562fs, NP_001333788.1:p.Arg562fs, NP_001333791.1:p.Arg531fs

Select item 14877975563.

rs1487797556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:26498968 (GRCh38)
22:26894934 (GRCh37)
Canonical SPDI:: NC_000022.11:26498967:G:A,NC_000022.11:26498967:G:C
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.26498968G>A, NC_000022.11:g.26498968G>C, NC_000022.10:g.26894934G>A, NC_000022.10:g.26894934G>C, NM_012143.4:c.1337C>T, NM_012143.4:c.1337C>G, NM_012143.3:c.1337C>T, NM_012143.3:c.1337C>G, NM_012143.2:c.1337C>T, NM_012143.2:c.1337C>G, NM_001008697.3:c.1337C>T, NM_001008697.3:c.1337C>G, NM_001008697.2:c.1337C>T, NM_001008697.2:c.1337C>G, NM_001008697.1:c.1337C>T, NM_001008697.1:c.1337C>G, NM_001346858.2:c.1337C>T, NM_001346858.2:c.1337C>G, NM_001346858.1:c.1337C>T, NM_001346858.1:c.1337C>G, NM_001346857.2:c.1337C>T, NM_001346857.2:c.1337C>G, NM_001346857.1:c.1337C>T, NM_001346857.1:c.1337C>G, NM_001346861.2:c.1337C>T, NM_001346861.2:c.1337C>G, NM_001346861.1:c.1337C>T, NM_001346861.1:c.1337C>G, NM_001346859.2:c.1337C>T, NM_001346859.2:c.1337C>G, NM_001346859.1:c.1337C>T, NM_001346859.1:c.1337C>G, NM_001346862.2:c.1244C>T, NM_001346862.2:c.1244C>G, NM_001346862.1:c.1244C>T, NM_001346862.1:c.1244C>G, NP_036275.1:p.Thr446Ile, NP_036275.1:p.Thr446Ser, NP_001008697.1:p.Thr446Ile, NP_001008697.1:p.Thr446Ser, NP_001333787.1:p.Thr446Ile, NP_001333787.1:p.Thr446Ser, NP_001333786.1:p.Thr446Ile, NP_001333786.1:p.Thr446Ser, NP_001333790.1:p.Thr446Ile, NP_001333790.1:p.Thr446Ser, NP_001333788.1:p.Thr446Ile, NP_001333788.1:p.Thr446Ser, NP_001333791.1:p.Thr415Ile, NP_001333791.1:p.Thr415Ser

Select item 14865507704.

rs1486550770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:26496879 (GRCh38)
22:26892845 (GRCh37)
Canonical SPDI:: NC_000022.11:26496878:C:A,NC_000022.11:26496878:C:G
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.26496879C>A, NC_000022.11:g.26496879C>G, NC_000022.10:g.26892845C>A, NC_000022.10:g.26892845C>G, NM_012143.4:c.1447G>T, NM_012143.4:c.1447G>C, NM_012143.3:c.1447G>T, NM_012143.3:c.1447G>C, NM_012143.2:c.1447G>T, NM_012143.2:c.1447G>C, NM_001008697.3:c.1447G>T, NM_001008697.3:c.1447G>C, NM_001008697.2:c.1447G>T, NM_001008697.2:c.1447G>C, NM_001008697.1:c.1447G>T, NM_001008697.1:c.1447G>C, NM_001346858.2:c.1447G>T, NM_001346858.2:c.1447G>C, NM_001346858.1:c.1447G>T, NM_001346858.1:c.1447G>C, NM_001346857.2:c.1447G>T, NM_001346857.2:c.1447G>C, NM_001346857.1:c.1447G>T, NM_001346857.1:c.1447G>C, NM_001346861.2:c.1447G>T, NM_001346861.2:c.1447G>C, NM_001346861.1:c.1447G>T, NM_001346861.1:c.1447G>C, NM_001346859.2:c.1447G>T, NM_001346859.2:c.1447G>C, NM_001346859.1:c.1447G>T, NM_001346859.1:c.1447G>C, NM_001346862.2:c.1354G>T, NM_001346862.2:c.1354G>C, NM_001346862.1:c.1354G>T, NM_001346862.1:c.1354G>C, NP_036275.1:p.Glu483Ter, NP_036275.1:p.Glu483Gln, NP_001008697.1:p.Glu483Ter, NP_001008697.1:p.Glu483Gln, NP_001333787.1:p.Glu483Ter, NP_001333787.1:p.Glu483Gln, NP_001333786.1:p.Glu483Ter, NP_001333786.1:p.Glu483Gln, NP_001333790.1:p.Glu483Ter, NP_001333790.1:p.Glu483Gln, NP_001333788.1:p.Glu483Ter, NP_001333788.1:p.Glu483Gln, NP_001333791.1:p.Glu452Ter, NP_001333791.1:p.Glu452Gln

Select item 14846257605.

rs1484625760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:26492219 (GRCh38)
22:26888185 (GRCh37)
Canonical SPDI:: NC_000022.11:26492218:G:A
Gene:: TFIP11 (Varview), SRRD (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.26492219G>A, NC_000022.10:g.26888185G>A, NM_012143.4:c.2308C>T, NM_012143.3:c.2308C>T, NM_012143.2:c.2308C>T, XM_011530178.3:c.*547G>A, XM_011530178.2:c.*547G>A, NM_001013694.3:c.*547G>A, XM_017028799.3:c.*731G>A, NM_001008697.3:c.2308C>T, NM_001008697.2:c.2308C>T, NM_001008697.1:c.2308C>T, NM_001346858.2:c.2308C>T, NM_001346858.1:c.2308C>T, NM_001346857.2:c.2308C>T, NM_001346857.1:c.2308C>T, NM_001346861.2:c.2308C>T, NM_001346861.1:c.2308C>T, NM_001346859.2:c.2308C>T, NM_001346859.1:c.2308C>T, NM_001346862.2:c.2215C>T, NM_001346862.1:c.2215C>T, NP_036275.1:p.Pro770Ser, NP_001008697.1:p.Pro770Ser, NP_001333787.1:p.Pro770Ser, NP_001333786.1:p.Pro770Ser, NP_001333790.1:p.Pro770Ser, NP_001333788.1:p.Pro770Ser, NP_001333791.1:p.Pro739Ser

Select item 14845938816.

rs1484593881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:26494916 (GRCh38)
22:26890882 (GRCh37)
Canonical SPDI:: NC_000022.11:26494915:T:C
Gene:: TFIP11 (Varview), SRRD (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.26494916T>C, NC_000022.10:g.26890882T>C, NM_012143.4:c.1873A>G, NM_012143.3:c.1873A>G, NM_012143.2:c.1873A>G, NM_001008697.3:c.1873A>G, NM_001008697.2:c.1873A>G, NM_001008697.1:c.1873A>G, NM_001346858.2:c.1873A>G, NM_001346858.1:c.1873A>G, NM_001346857.2:c.1873A>G, NM_001346857.1:c.1873A>G, NM_001346861.2:c.1873A>G, NM_001346861.1:c.1873A>G, NM_001346859.2:c.1873A>G, NM_001346859.1:c.1873A>G, NM_001346862.2:c.1780A>G, NM_001346862.1:c.1780A>G, NP_036275.1:p.Ile625Val, NP_001008697.1:p.Ile625Val, NP_001333787.1:p.Ile625Val, NP_001333786.1:p.Ile625Val, NP_001333790.1:p.Ile625Val, NP_001333788.1:p.Ile625Val, NP_001333791.1:p.Ile594Val

Select item 14842681247.

rs1484268124 [Homo sapiens]

Variant type:: DEL
Alleles:: AGAT>- [Show Flanks]
Chromosome:: 22:26494200 (GRCh38)
22:26890166 (GRCh37)
Canonical SPDI:: NC_000022.11:26494199:AGAT:
Gene:: TFIP11 (Varview), SRRD (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.26494200_26494203del, NC_000022.10:g.26890166_26890169del, NM_012143.4:c.2094_2097del, NM_012143.3:c.2094_2097del, NM_012143.2:c.2094_2097del, XM_011530178.3:c.*2528_*2531del, XM_011530178.2:c.*2528_*2531del, NM_001013694.3:c.*2528_*2531del, XM_017028799.3:c.*2712_*2715del, NM_001008697.3:c.2094_2097del, NM_001008697.2:c.2094_2097del, NM_001008697.1:c.2094_2097del, NM_001346858.2:c.2094_2097del, NM_001346858.1:c.2094_2097del, NM_001346857.2:c.2094_2097del, NM_001346857.1:c.2094_2097del, NM_001346861.2:c.2094_2097del, NM_001346861.1:c.2094_2097del, NM_001346859.2:c.2094_2097del, NM_001346859.1:c.2094_2097del, NM_001346862.2:c.2001_2004del, NM_001346862.1:c.2001_2004del, NP_036275.1:p.Val700fs, NP_001008697.1:p.Val700fs, NP_001333787.1:p.Val700fs, NP_001333786.1:p.Val700fs, NP_001333790.1:p.Val700fs, NP_001333788.1:p.Val700fs, NP_001333791.1:p.Val669fs

Select item 14836305468.

rs1483630546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:26499213 (GRCh38)
22:26895179 (GRCh37)
Canonical SPDI:: NC_000022.11:26499212:A:G
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.26499213A>G, NC_000022.10:g.26895179A>G, NM_012143.4:c.1220T>C, NM_012143.3:c.1220T>C, NM_012143.2:c.1220T>C, NM_001008697.3:c.1220T>C, NM_001008697.2:c.1220T>C, NM_001008697.1:c.1220T>C, NM_001346858.2:c.1220T>C, NM_001346858.1:c.1220T>C, NM_001346857.2:c.1220T>C, NM_001346857.1:c.1220T>C, NM_001346861.2:c.1220T>C, NM_001346861.1:c.1220T>C, NM_001346859.2:c.1220T>C, NM_001346859.1:c.1220T>C, NM_001346862.2:c.1127T>C, NM_001346862.1:c.1127T>C, NP_036275.1:p.Leu407Pro, NP_001008697.1:p.Leu407Pro, NP_001333787.1:p.Leu407Pro, NP_001333786.1:p.Leu407Pro, NP_001333790.1:p.Leu407Pro, NP_001333788.1:p.Leu407Pro, NP_001333791.1:p.Leu376Pro

Select item 14819709229.

rs1481970922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:26496101 (GRCh38)
22:26892067 (GRCh37)
Canonical SPDI:: NC_000022.11:26496100:G:A
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.26496101G>A, NC_000022.10:g.26892067G>A, NM_012143.4:c.1821C>T, NM_012143.3:c.1821C>T, NM_012143.2:c.1821C>T, NM_001008697.3:c.1821C>T, NM_001008697.2:c.1821C>T, NM_001008697.1:c.1821C>T, NM_001346858.2:c.1821C>T, NM_001346858.1:c.1821C>T, NM_001346857.2:c.1821C>T, NM_001346857.1:c.1821C>T, NM_001346861.2:c.1821C>T, NM_001346861.1:c.1821C>T, NM_001346859.2:c.1821C>T, NM_001346859.1:c.1821C>T, NM_001346862.2:c.1728C>T, NM_001346862.1:c.1728C>T

Select item 148093515710.

rs1480935157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:26501932 (GRCh38)
22:26897898 (GRCh37)
Canonical SPDI:: NC_000022.11:26501931:T:C
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.26501932T>C, NC_000022.10:g.26897898T>C, NM_012143.4:c.769A>G, NM_012143.3:c.769A>G, NM_012143.2:c.769A>G, NM_001008697.3:c.769A>G, NM_001008697.2:c.769A>G, NM_001008697.1:c.769A>G, NM_001346858.2:c.769A>G, NM_001346858.1:c.769A>G, NM_001346857.2:c.769A>G, NM_001346857.1:c.769A>G, NM_001346861.2:c.769A>G, NM_001346861.1:c.769A>G, NM_001346859.2:c.769A>G, NM_001346859.1:c.769A>G, NM_001346862.2:c.676A>G, NM_001346862.1:c.676A>G, NP_036275.1:p.Thr257Ala, NP_001008697.1:p.Thr257Ala, NP_001333787.1:p.Thr257Ala, NP_001333786.1:p.Thr257Ala, NP_001333790.1:p.Thr257Ala, NP_001333788.1:p.Thr257Ala, NP_001333791.1:p.Thr226Ala

Select item 148011466911.

rs1480114669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:26498894 (GRCh38)
22:26894860 (GRCh37)
Canonical SPDI:: NC_000022.11:26498893:C:T
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.26498894C>T, NC_000022.10:g.26894860C>T, NM_012143.4:c.1411G>A, NM_012143.3:c.1411G>A, NM_012143.2:c.1411G>A, NM_001008697.3:c.1411G>A, NM_001008697.2:c.1411G>A, NM_001008697.1:c.1411G>A, NM_001346858.2:c.1411G>A, NM_001346858.1:c.1411G>A, NM_001346857.2:c.1411G>A, NM_001346857.1:c.1411G>A, NM_001346861.2:c.1411G>A, NM_001346861.1:c.1411G>A, NM_001346859.2:c.1411G>A, NM_001346859.1:c.1411G>A, NM_001346862.2:c.1318G>A, NM_001346862.1:c.1318G>A, NP_036275.1:p.Asp471Asn, NP_001008697.1:p.Asp471Asn, NP_001333787.1:p.Asp471Asn, NP_001333786.1:p.Asp471Asn, NP_001333790.1:p.Asp471Asn, NP_001333788.1:p.Asp471Asn, NP_001333791.1:p.Asp440Asn

Select item 147979460912.

rs1479794609 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACGGTCGGACATCCTGTAC>- [Show Flanks]
Chromosome:: 22:26499171 (GRCh38)
22:26895137 (GRCh37)
Canonical SPDI:: NC_000022.11:26499169:CACACGGTCGGACATCCTGTAC:C
Gene:: TFIP11 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.26499171_26499191del, NC_000022.10:g.26895137_26895157del, NM_012143.4:c.1243_1263del, NM_012143.3:c.1243_1263del, NM_012143.2:c.1243_1263del, NM_001008697.3:c.1243_1263del, NM_001008697.2:c.1243_1263del, NM_001008697.1:c.1243_1263del, NM_001346858.2:c.1243_1263del, NM_001346858.1:c.1243_1263del, NM_001346857.2:c.1243_1263del, NM_001346857.1:c.1243_1263del, NM_001346861.2:c.1243_1263del, NM_001346861.1:c.1243_1263del, NM_001346859.2:c.1243_1263del, NM_001346859.1:c.1243_1263del, NM_001346862.2:c.1150_1170del, NM_001346862.1:c.1150_1170del, NP_036275.1:p.Tyr415_Val421del, NP_001008697.1:p.Tyr415_Val421del, NP_001333787.1:p.Tyr415_Val421del, NP_001333786.1:p.Tyr415_Val421del, NP_001333790.1:p.Tyr415_Val421del, NP_001333788.1:p.Tyr415_Val421del, NP_001333791.1:p.Tyr384_Val390del

Select item 147920994713.

rs1479209947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:26496794 (GRCh38)
22:26892760 (GRCh37)
Canonical SPDI:: NC_000022.11:26496793:C:T
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.26496794C>T, NC_000022.10:g.26892760C>T, NM_012143.4:c.1532G>A, NM_012143.3:c.1532G>A, NM_012143.2:c.1532G>A, NM_001008697.3:c.1532G>A, NM_001008697.2:c.1532G>A, NM_001008697.1:c.1532G>A, NM_001346858.2:c.1532G>A, NM_001346858.1:c.1532G>A, NM_001346857.2:c.1532G>A, NM_001346857.1:c.1532G>A, NM_001346861.2:c.1532G>A, NM_001346861.1:c.1532G>A, NM_001346859.2:c.1532G>A, NM_001346859.1:c.1532G>A, NM_001346862.2:c.1439G>A, NM_001346862.1:c.1439G>A, NP_036275.1:p.Trp511Ter, NP_001008697.1:p.Trp511Ter, NP_001333787.1:p.Trp511Ter, NP_001333786.1:p.Trp511Ter, NP_001333790.1:p.Trp511Ter, NP_001333788.1:p.Trp511Ter, NP_001333791.1:p.Trp480Ter

Select item 147802176814.

rs1478021768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:26496807 (GRCh38)
22:26892773 (GRCh37)
Canonical SPDI:: NC_000022.11:26496806:A:G
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.26496807A>G, NC_000022.10:g.26892773A>G, NM_012143.4:c.1519T>C, NM_012143.3:c.1519T>C, NM_012143.2:c.1519T>C, NM_001008697.3:c.1519T>C, NM_001008697.2:c.1519T>C, NM_001008697.1:c.1519T>C, NM_001346858.2:c.1519T>C, NM_001346858.1:c.1519T>C, NM_001346857.2:c.1519T>C, NM_001346857.1:c.1519T>C, NM_001346861.2:c.1519T>C, NM_001346861.1:c.1519T>C, NM_001346859.2:c.1519T>C, NM_001346859.1:c.1519T>C, NM_001346862.2:c.1426T>C, NM_001346862.1:c.1426T>C, NP_036275.1:p.Phe507Leu, NP_001008697.1:p.Phe507Leu, NP_001333787.1:p.Phe507Leu, NP_001333786.1:p.Phe507Leu, NP_001333790.1:p.Phe507Leu, NP_001333788.1:p.Phe507Leu, NP_001333791.1:p.Phe476Leu

Select item 147796292015.

rs1477962920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:26503702 (GRCh38)
22:26899668 (GRCh37)
Canonical SPDI:: NC_000022.11:26503701:G:A
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.26503702G>A, NC_000022.10:g.26899668G>A, NM_012143.4:c.612C>T, NM_012143.3:c.612C>T, NM_012143.2:c.612C>T, NM_001008697.3:c.612C>T, NM_001008697.2:c.612C>T, NM_001008697.1:c.612C>T, NM_001346858.2:c.612C>T, NM_001346858.1:c.612C>T, NM_001346857.2:c.612C>T, NM_001346857.1:c.612C>T, NM_001346861.2:c.612C>T, NM_001346861.1:c.612C>T, NM_001346859.2:c.612C>T, NM_001346859.1:c.612C>T, NM_001346862.2:c.519C>T, NM_001346862.1:c.519C>T

Select item 147598424916.

rs1475984249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:26499370 (GRCh38)
22:26895336 (GRCh37)
Canonical SPDI:: NC_000022.11:26499369:C:T
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.26499370C>T, NC_000022.10:g.26895336C>T, NM_012143.4:c.1063G>A, NM_012143.3:c.1063G>A, NM_012143.2:c.1063G>A, NM_001008697.3:c.1063G>A, NM_001008697.2:c.1063G>A, NM_001008697.1:c.1063G>A, NM_001346858.2:c.1063G>A, NM_001346858.1:c.1063G>A, NM_001346857.2:c.1063G>A, NM_001346857.1:c.1063G>A, NM_001346861.2:c.1063G>A, NM_001346861.1:c.1063G>A, NM_001346859.2:c.1063G>A, NM_001346859.1:c.1063G>A, NM_001346862.2:c.970G>A, NM_001346862.1:c.970G>A, NP_036275.1:p.Glu355Lys, NP_001008697.1:p.Glu355Lys, NP_001333787.1:p.Glu355Lys, NP_001333786.1:p.Glu355Lys, NP_001333790.1:p.Glu355Lys, NP_001333788.1:p.Glu355Lys, NP_001333791.1:p.Glu324Lys

Select item 147563138717.

rs1475631387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:26496240 (GRCh38)
22:26892206 (GRCh37)
Canonical SPDI:: NC_000022.11:26496239:G:C
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.26496240G>C, NC_000022.10:g.26892206G>C, NM_012143.4:c.1682C>G, NM_012143.3:c.1682C>G, NM_012143.2:c.1682C>G, NM_001008697.3:c.1682C>G, NM_001008697.2:c.1682C>G, NM_001008697.1:c.1682C>G, NM_001346858.2:c.1682C>G, NM_001346858.1:c.1682C>G, NM_001346857.2:c.1682C>G, NM_001346857.1:c.1682C>G, NM_001346861.2:c.1682C>G, NM_001346861.1:c.1682C>G, NM_001346859.2:c.1682C>G, NM_001346859.1:c.1682C>G, NM_001346862.2:c.1589C>G, NM_001346862.1:c.1589C>G, NP_036275.1:p.Ala561Gly, NP_001008697.1:p.Ala561Gly, NP_001333787.1:p.Ala561Gly, NP_001333786.1:p.Ala561Gly, NP_001333790.1:p.Ala561Gly, NP_001333788.1:p.Ala561Gly, NP_001333791.1:p.Ala530Gly

Select item 147552625518.

rs1475526255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:26499291 (GRCh38)
22:26895257 (GRCh37)
Canonical SPDI:: NC_000022.11:26499290:T:C
Gene:: TFIP11 (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=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.26499291T>C, NC_000022.10:g.26895257T>C, NM_012143.4:c.1142A>G, NM_012143.3:c.1142A>G, NM_012143.2:c.1142A>G, NM_001008697.3:c.1142A>G, NM_001008697.2:c.1142A>G, NM_001008697.1:c.1142A>G, NM_001346858.2:c.1142A>G, NM_001346858.1:c.1142A>G, NM_001346857.2:c.1142A>G, NM_001346857.1:c.1142A>G, NM_001346861.2:c.1142A>G, NM_001346861.1:c.1142A>G, NM_001346859.2:c.1142A>G, NM_001346859.1:c.1142A>G, NM_001346862.2:c.1049A>G, NM_001346862.1:c.1049A>G, NP_036275.1:p.Glu381Gly, NP_001008697.1:p.Glu381Gly, NP_001333787.1:p.Glu381Gly, NP_001333786.1:p.Glu381Gly, NP_001333790.1:p.Glu381Gly, NP_001333788.1:p.Glu381Gly, NP_001333791.1:p.Glu350Gly

Select item 147547475519.

rs1475474755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:26510076 (GRCh38)
22:26906042 (GRCh37)
Canonical SPDI:: NC_000022.11:26510075:A:G
Gene:: TFIP11 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.26510076A>G, NC_000022.10:g.26906042A>G, NM_012143.4:c.197T>C, NM_012143.3:c.197T>C, NM_012143.2:c.197T>C, NM_001008697.3:c.197T>C, NM_001008697.2:c.197T>C, NM_001008697.1:c.197T>C, NM_001346858.2:c.197T>C, NM_001346858.1:c.197T>C, NM_001346857.2:c.197T>C, NM_001346857.1:c.197T>C, NM_001346861.2:c.197T>C, NM_001346861.1:c.197T>C, NM_001346859.2:c.197T>C, NM_001346859.1:c.197T>C, NP_036275.1:p.Phe66Ser, NP_001008697.1:p.Phe66Ser, NP_001333787.1:p.Phe66Ser, NP_001333786.1:p.Phe66Ser, NP_001333790.1:p.Phe66Ser, NP_001333788.1:p.Phe66Ser

Select item 147538359520.

rs1475383595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:26496236 (GRCh38)
22:26892202 (GRCh37)
Canonical SPDI:: NC_000022.11:26496235:C:T
Gene:: TFIP11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.26496236C>T, NC_000022.10:g.26892202C>T, NM_012143.4:c.1686G>A, NM_012143.3:c.1686G>A, NM_012143.2:c.1686G>A, NM_001008697.3:c.1686G>A, NM_001008697.2:c.1686G>A, NM_001008697.1:c.1686G>A, NM_001346858.2:c.1686G>A, NM_001346858.1:c.1686G>A, NM_001346857.2:c.1686G>A, NM_001346857.1:c.1686G>A, NM_001346861.2:c.1686G>A, NM_001346861.1:c.1686G>A, NM_001346859.2:c.1686G>A, NM_001346859.1:c.1686G>A, NM_001346862.2:c.1593G>A, NM_001346862.1:c.1593G>A

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Result Filters

Clinical Significance

Validation Status

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Global MAF

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Additional filters

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Items: 1 to 20 of 826

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