SNP Links for Protein (Select 15147248) - SNP

Links from Protein

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Select item 14878559911.

rs1487855991 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:42900327 (GRCh38)
13:43474464 (GRCh37)
Canonical SPDI:: NC_000013.11:42900327:T:TT
Gene:: EPSTI1 (Varview), LOC124903165 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000013.11:g.42900328dup, NC_000013.10:g.43474464dup, NG_051573.1:g.96985dup, NM_033255.5:c.797dup, NM_033255.4:c.797dup, NM_033255.3:c.797dup, NM_001002264.4:c.830dup, NM_001002264.3:c.830dup, NM_001002264.2:c.830dup, NM_001330543.2:c.830dup, NM_001330543.1:c.830dup, NM_001331228.2:c.416dup, NM_001331228.1:c.416dup, XM_006719896.5:c.830dup, XM_006719896.4:c.830dup, XM_006719896.3:c.830dup, XM_006719896.2:c.830dup, XM_006719896.1:c.830dup, XM_011535312.3:c.449dup, XM_011535312.2:c.449dup, XM_011535312.1:c.449dup, XM_017020855.3:c.449dup, XM_017020855.2:c.449dup, XM_017020855.1:c.449dup, XM_011535314.2:c.284dup, XM_011535314.1:c.284dup, XM_005266596.2:c.797dup, XM_005266596.1:c.797dup, XM_011535313.2:c.449dup, XM_011535313.1:c.449dup, XM_047430778.1:c.449dup, XM_047430779.1:c.449dup, XM_047430780.1:c.449dup, XM_047430781.1:c.449dup, XM_047430784.1:c.416dup, NP_150280.1:p.His266fs, NP_001002264.1:p.His277fs, NP_001317472.1:p.His277fs, NP_001318157.1:p.His139fs, XP_006719959.1:p.His277fs, XP_011533614.1:p.His150fs, XP_016876344.1:p.His150fs, XP_011533616.1:p.His95fs, XP_005266653.1:p.His266fs, XP_011533615.1:p.His150fs, XP_047286734.1:p.His150fs, XP_047286735.1:p.His150fs, XP_047286736.1:p.His150fs, XP_047286737.1:p.His150fs, XP_047286740.1:p.His139fs

Select item 14870326802.

rs1487032680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:42992160 (GRCh38)
13:43566296 (GRCh37)
Canonical SPDI:: NC_000013.11:42992159:G:A
Gene:: EPSTI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.42992160G>A, NC_000013.10:g.43566296G>A, NG_051573.1:g.5153C>T, NM_033255.5:c.6C>T, NM_033255.4:c.6C>T, NM_033255.3:c.6C>T, NM_001002264.4:c.6C>T, NM_001002264.3:c.6C>T, NM_001002264.2:c.6C>T, NM_001330543.2:c.6C>T, NM_001330543.1:c.6C>T, NM_001331228.2:c.-317C>T, NM_001331228.1:c.-317C>T, XM_006719896.5:c.6C>T, XM_006719896.4:c.6C>T, XM_006719896.3:c.6C>T, XM_006719896.2:c.6C>T, XM_006719896.1:c.6C>T, XM_005266596.2:c.6C>T, XM_005266596.1:c.6C>T, XM_011535313.2:c.-317C>T, XM_011535313.1:c.-317C>T, XM_047430778.1:c.-3210C>T, XM_047430779.1:c.-1886C>T, XM_047430780.1:c.-1205C>T, XM_047430781.1:c.-690C>T, XM_047430784.1:c.-460C>T

Select item 14785164103.

rs1478516410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:42954016 (GRCh38)
13:43528152 (GRCh37)
Canonical SPDI:: NC_000013.11:42954015:A:G
Gene:: EPSTI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.42954016A>G, NC_000013.10:g.43528152A>G, NG_051573.1:g.43297T>C, NM_033255.5:c.495T>C, NM_033255.4:c.495T>C, NM_033255.3:c.495T>C, NM_001002264.4:c.495T>C, NM_001002264.3:c.495T>C, NM_001002264.2:c.495T>C, NM_001330543.2:c.495T>C, NM_001330543.1:c.495T>C, NM_001331228.2:c.114T>C, NM_001331228.1:c.114T>C, XM_006719896.5:c.495T>C, XM_006719896.4:c.495T>C, XM_006719896.3:c.495T>C, XM_006719896.2:c.495T>C, XM_006719896.1:c.495T>C, XM_011535312.3:c.114T>C, XM_011535312.2:c.114T>C, XM_011535312.1:c.114T>C, XM_017020855.3:c.114T>C, XM_017020855.2:c.114T>C, XM_017020855.1:c.114T>C, XM_005266596.2:c.495T>C, XM_005266596.1:c.495T>C, XM_011535313.2:c.114T>C, XM_011535313.1:c.114T>C, XM_047430778.1:c.114T>C, XM_047430779.1:c.114T>C, XM_047430780.1:c.114T>C, XM_047430781.1:c.114T>C, XM_047430784.1:c.114T>C

Select item 14768368534.

rs1476836853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:42992053 (GRCh38)
13:43566189 (GRCh37)
Canonical SPDI:: NC_000013.11:42992052:T:C
Gene:: EPSTI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.42992053T>C, NC_000013.10:g.43566189T>C, NG_051573.1:g.5260A>G, NM_033255.5:c.113A>G, NM_033255.4:c.113A>G, NM_033255.3:c.113A>G, NM_001002264.4:c.113A>G, NM_001002264.3:c.113A>G, NM_001002264.2:c.113A>G, NM_001330543.2:c.113A>G, NM_001330543.1:c.113A>G, NM_001331228.2:c.-210A>G, NM_001331228.1:c.-210A>G, XM_006719896.5:c.113A>G, XM_006719896.4:c.113A>G, XM_006719896.3:c.113A>G, XM_006719896.2:c.113A>G, XM_006719896.1:c.113A>G, XM_005266596.2:c.113A>G, XM_005266596.1:c.113A>G, XM_011535313.2:c.-210A>G, XM_011535313.1:c.-210A>G, XM_047430778.1:c.-3103A>G, XM_047430779.1:c.-1779A>G, XM_047430780.1:c.-1098A>G, XM_047430781.1:c.-583A>G, XM_047430784.1:c.-353A>G, NP_150280.1:p.Glu38Gly, NP_001002264.1:p.Glu38Gly, NP_001317472.1:p.Glu38Gly, XP_006719959.1:p.Glu38Gly, XP_005266653.1:p.Glu38Gly

Select item 14746446445.

rs1474644644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:42917555 (GRCh38)
13:43491691 (GRCh37)
Canonical SPDI:: NC_000013.11:42917554:C:T
Gene:: EPSTI1 (Varview), LOC124903165 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000013.11:g.42917555C>T, NC_000013.10:g.43491691C>T, NG_051573.1:g.79758G>A, NM_033255.5:c.727G>A, NM_033255.4:c.727G>A, NM_033255.3:c.727G>A, NM_001002264.4:c.760G>A, NM_001002264.3:c.760G>A, NM_001002264.2:c.760G>A, NM_001330543.2:c.760G>A, NM_001330543.1:c.760G>A, NM_001331228.2:c.346G>A, NM_001331228.1:c.346G>A, XM_006719896.5:c.760G>A, XM_006719896.4:c.760G>A, XM_006719896.3:c.760G>A, XM_006719896.2:c.760G>A, XM_006719896.1:c.760G>A, XM_011535312.3:c.379G>A, XM_011535312.2:c.379G>A, XM_011535312.1:c.379G>A, XM_017020855.3:c.379G>A, XM_017020855.2:c.379G>A, XM_017020855.1:c.379G>A, XM_011535314.2:c.214G>A, XM_011535314.1:c.214G>A, XM_005266596.2:c.727G>A, XM_005266596.1:c.727G>A, XM_011535313.2:c.379G>A, XM_011535313.1:c.379G>A, XM_047430778.1:c.379G>A, XM_047430779.1:c.379G>A, XM_047430780.1:c.379G>A, XM_047430781.1:c.379G>A, XM_047430784.1:c.346G>A, NP_150280.1:p.Glu243Lys, NP_001002264.1:p.Glu254Lys, NP_001317472.1:p.Glu254Lys, NP_001318157.1:p.Glu116Lys, XP_006719959.1:p.Glu254Lys, XP_011533614.1:p.Glu127Lys, XP_016876344.1:p.Glu127Lys, XP_011533616.1:p.Glu72Lys, XP_005266653.1:p.Glu243Lys, XP_011533615.1:p.Glu127Lys, XP_047286734.1:p.Glu127Lys, XP_047286735.1:p.Glu127Lys, XP_047286736.1:p.Glu127Lys, XP_047286737.1:p.Glu127Lys, XP_047286740.1:p.Glu116Lys

Select item 14717253866.

rs1471725386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:42917562 (GRCh38)
13:43491698 (GRCh37)
Canonical SPDI:: NC_000013.11:42917561:C:A
Gene:: EPSTI1 (Varview), LOC124903165 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
HGVS:: NC_000013.11:g.42917562C>A, NC_000013.10:g.43491698C>A, NG_051573.1:g.79751G>T, NM_033255.5:c.720G>T, NM_033255.4:c.720G>T, NM_033255.3:c.720G>T, NM_001002264.4:c.753G>T, NM_001002264.3:c.753G>T, NM_001002264.2:c.753G>T, NM_001330543.2:c.753G>T, NM_001330543.1:c.753G>T, NM_001331228.2:c.339G>T, NM_001331228.1:c.339G>T, XM_006719896.5:c.753G>T, XM_006719896.4:c.753G>T, XM_006719896.3:c.753G>T, XM_006719896.2:c.753G>T, XM_006719896.1:c.753G>T, XM_011535312.3:c.372G>T, XM_011535312.2:c.372G>T, XM_011535312.1:c.372G>T, XM_017020855.3:c.372G>T, XM_017020855.2:c.372G>T, XM_017020855.1:c.372G>T, XM_011535314.2:c.207G>T, XM_011535314.1:c.207G>T, XM_005266596.2:c.720G>T, XM_005266596.1:c.720G>T, XM_011535313.2:c.372G>T, XM_011535313.1:c.372G>T, XM_047430778.1:c.372G>T, XM_047430779.1:c.372G>T, XM_047430780.1:c.372G>T, XM_047430781.1:c.372G>T, XM_047430784.1:c.339G>T, NP_150280.1:p.Met240Ile, NP_001002264.1:p.Met251Ile, NP_001317472.1:p.Met251Ile, NP_001318157.1:p.Met113Ile, XP_006719959.1:p.Met251Ile, XP_011533614.1:p.Met124Ile, XP_016876344.1:p.Met124Ile, XP_011533616.1:p.Met69Ile, XP_005266653.1:p.Met240Ile, XP_011533615.1:p.Met124Ile, XP_047286734.1:p.Met124Ile, XP_047286735.1:p.Met124Ile, XP_047286736.1:p.Met124Ile, XP_047286737.1:p.Met124Ile, XP_047286740.1:p.Met113Ile

Select item 14700703187.

rs1470070318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:42991994 (GRCh38)
13:43566130 (GRCh37)
Canonical SPDI:: NC_000013.11:42991993:G:A,NC_000013.11:42991993:G:C
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.42991994G>A, NC_000013.11:g.42991994G>C, NC_000013.10:g.43566130G>A, NC_000013.10:g.43566130G>C, NG_051573.1:g.5319C>T, NG_051573.1:g.5319C>G, NM_033255.5:c.172C>T, NM_033255.5:c.172C>G, NM_033255.4:c.172C>T, NM_033255.4:c.172C>G, NM_033255.3:c.172C>T, NM_033255.3:c.172C>G, NM_001002264.4:c.172C>T, NM_001002264.4:c.172C>G, NM_001002264.3:c.172C>T, NM_001002264.3:c.172C>G, NM_001002264.2:c.172C>T, NM_001002264.2:c.172C>G, NM_001330543.2:c.172C>T, NM_001330543.2:c.172C>G, NM_001330543.1:c.172C>T, NM_001330543.1:c.172C>G, NM_001331228.2:c.-151C>T, NM_001331228.2:c.-151C>G, NM_001331228.1:c.-151C>T, NM_001331228.1:c.-151C>G, XM_006719896.5:c.172C>T, XM_006719896.5:c.172C>G, XM_006719896.4:c.172C>T, XM_006719896.4:c.172C>G, XM_006719896.3:c.172C>T, XM_006719896.3:c.172C>G, XM_006719896.2:c.172C>T, XM_006719896.2:c.172C>G, XM_006719896.1:c.172C>T, XM_006719896.1:c.172C>G, XM_005266596.2:c.172C>T, XM_005266596.2:c.172C>G, XM_005266596.1:c.172C>T, XM_005266596.1:c.172C>G, XM_011535313.2:c.-151C>T, XM_011535313.2:c.-151C>G, XM_011535313.1:c.-151C>T, XM_011535313.1:c.-151C>G, XM_047430778.1:c.-3044C>T, XM_047430778.1:c.-3044C>G, XM_047430779.1:c.-1720C>T, XM_047430779.1:c.-1720C>G, XM_047430780.1:c.-1039C>T, XM_047430780.1:c.-1039C>G, XM_047430781.1:c.-524C>T, XM_047430781.1:c.-524C>G, XM_047430784.1:c.-294C>T, XM_047430784.1:c.-294C>G, NP_150280.1:p.His58Tyr, NP_150280.1:p.His58Asp, NP_001002264.1:p.His58Tyr, NP_001002264.1:p.His58Asp, NP_001317472.1:p.His58Tyr, NP_001317472.1:p.His58Asp, XP_006719959.1:p.His58Tyr, XP_006719959.1:p.His58Asp, XP_005266653.1:p.His58Tyr, XP_005266653.1:p.His58Asp

Select item 14676861118.

rs1467686111 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 13:42954013 (GRCh38)
13:43528149 (GRCh37)
Canonical SPDI:: NC_000013.11:42954012:TTT:TT
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.42954015del, NC_000013.10:g.43528151del, NG_051573.1:g.43300del, NM_033255.5:c.498del, NM_033255.4:c.498del, NM_033255.3:c.498del, NM_001002264.4:c.498del, NM_001002264.3:c.498del, NM_001002264.2:c.498del, NM_001330543.2:c.498del, NM_001330543.1:c.498del, NM_001331228.2:c.117del, NM_001331228.1:c.117del, XM_006719896.5:c.498del, XM_006719896.4:c.498del, XM_006719896.3:c.498del, XM_006719896.2:c.498del, XM_006719896.1:c.498del, XM_011535312.3:c.117del, XM_011535312.2:c.117del, XM_011535312.1:c.117del, XM_017020855.3:c.117del, XM_017020855.2:c.117del, XM_017020855.1:c.117del, XM_005266596.2:c.498del, XM_005266596.1:c.498del, XM_011535313.2:c.117del, XM_011535313.1:c.117del, XM_047430778.1:c.117del, XM_047430779.1:c.117del, XM_047430780.1:c.117del, XM_047430781.1:c.117del, XM_047430784.1:c.117del, NP_150280.1:p.Lys166fs, NP_001002264.1:p.Lys166fs, NP_001317472.1:p.Lys166fs, NP_001318157.1:p.Lys39fs, XP_006719959.1:p.Lys166fs, XP_011533614.1:p.Lys39fs, XP_016876344.1:p.Lys39fs, XP_005266653.1:p.Lys166fs, XP_011533615.1:p.Lys39fs, XP_047286734.1:p.Lys39fs, XP_047286735.1:p.Lys39fs, XP_047286736.1:p.Lys39fs, XP_047286737.1:p.Lys39fs, XP_047286740.1:p.Lys39fs

Select item 14620974449.

rs1462097444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:42964067 (GRCh38)
13:43538203 (GRCh37)
Canonical SPDI:: NC_000013.11:42964066:T:G
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.42964067T>G, NC_000013.10:g.43538203T>G, NG_051573.1:g.33246A>C, NM_033255.5:c.404A>C, NM_033255.4:c.404A>C, NM_033255.3:c.404A>C, NM_001002264.4:c.404A>C, NM_001002264.3:c.404A>C, NM_001002264.2:c.404A>C, NM_001330543.2:c.404A>C, NM_001330543.1:c.404A>C, NM_001331228.2:c.23A>C, NM_001331228.1:c.23A>C, XM_006719896.5:c.404A>C, XM_006719896.4:c.404A>C, XM_006719896.3:c.404A>C, XM_006719896.2:c.404A>C, XM_006719896.1:c.404A>C, XM_011535312.3:c.23A>C, XM_011535312.2:c.23A>C, XM_011535312.1:c.23A>C, XM_017020855.3:c.23A>C, XM_017020855.2:c.23A>C, XM_017020855.1:c.23A>C, XM_005266596.2:c.404A>C, XM_005266596.1:c.404A>C, XM_011535313.2:c.23A>C, XM_011535313.1:c.23A>C, XM_047430778.1:c.23A>C, XM_047430779.1:c.23A>C, XM_047430780.1:c.23A>C, XM_047430781.1:c.23A>C, XM_047430784.1:c.23A>C, NP_150280.1:p.Lys135Thr, NP_001002264.1:p.Lys135Thr, NP_001317472.1:p.Lys135Thr, NP_001318157.1:p.Lys8Thr, XP_006719959.1:p.Lys135Thr, XP_011533614.1:p.Lys8Thr, XP_016876344.1:p.Lys8Thr, XP_005266653.1:p.Lys135Thr, XP_011533615.1:p.Lys8Thr, XP_047286734.1:p.Lys8Thr, XP_047286735.1:p.Lys8Thr, XP_047286736.1:p.Lys8Thr, XP_047286737.1:p.Lys8Thr, XP_047286740.1:p.Lys8Thr

Select item 146188204010.

rs1461882040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:42992127 (GRCh38)
13:43566263 (GRCh37)
Canonical SPDI:: NC_000013.11:42992126:G:A,NC_000013.11:42992126:G:T
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.42992127G>A, NC_000013.11:g.42992127G>T, NC_000013.10:g.43566263G>A, NC_000013.10:g.43566263G>T, NG_051573.1:g.5186C>T, NG_051573.1:g.5186C>A, NM_033255.5:c.39C>T, NM_033255.5:c.39C>A, NM_033255.4:c.39C>T, NM_033255.4:c.39C>A, NM_033255.3:c.39C>T, NM_033255.3:c.39C>A, NM_001002264.4:c.39C>T, NM_001002264.4:c.39C>A, NM_001002264.3:c.39C>T, NM_001002264.3:c.39C>A, NM_001002264.2:c.39C>T, NM_001002264.2:c.39C>A, NM_001330543.2:c.39C>T, NM_001330543.2:c.39C>A, NM_001330543.1:c.39C>T, NM_001330543.1:c.39C>A, NM_001331228.2:c.-284C>T, NM_001331228.2:c.-284C>A, NM_001331228.1:c.-284C>T, NM_001331228.1:c.-284C>A, XM_006719896.5:c.39C>T, XM_006719896.5:c.39C>A, XM_006719896.4:c.39C>T, XM_006719896.4:c.39C>A, XM_006719896.3:c.39C>T, XM_006719896.3:c.39C>A, XM_006719896.2:c.39C>T, XM_006719896.2:c.39C>A, XM_006719896.1:c.39C>T, XM_006719896.1:c.39C>A, XM_005266596.2:c.39C>T, XM_005266596.2:c.39C>A, XM_005266596.1:c.39C>T, XM_005266596.1:c.39C>A, XM_011535313.2:c.-284C>T, XM_011535313.2:c.-284C>A, XM_011535313.1:c.-284C>T, XM_011535313.1:c.-284C>A, XM_047430778.1:c.-3177C>T, XM_047430778.1:c.-3177C>A, XM_047430779.1:c.-1853C>T, XM_047430779.1:c.-1853C>A, XM_047430780.1:c.-1172C>T, XM_047430780.1:c.-1172C>A, XM_047430781.1:c.-657C>T, XM_047430781.1:c.-657C>A, XM_047430784.1:c.-427C>T, XM_047430784.1:c.-427C>A

Select item 145494093611.

rs1454940936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:42992046 (GRCh38)
13:43566182 (GRCh37)
Canonical SPDI:: NC_000013.11:42992045:C:A
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.42992046C>A, NC_000013.10:g.43566182C>A, NG_051573.1:g.5267G>T, NM_033255.5:c.120G>T, NM_033255.4:c.120G>T, NM_033255.3:c.120G>T, NM_001002264.4:c.120G>T, NM_001002264.3:c.120G>T, NM_001002264.2:c.120G>T, NM_001330543.2:c.120G>T, NM_001330543.1:c.120G>T, NM_001331228.2:c.-203G>T, NM_001331228.1:c.-203G>T, XM_006719896.5:c.120G>T, XM_006719896.4:c.120G>T, XM_006719896.3:c.120G>T, XM_006719896.2:c.120G>T, XM_006719896.1:c.120G>T, XM_005266596.2:c.120G>T, XM_005266596.1:c.120G>T, XM_011535313.2:c.-203G>T, XM_011535313.1:c.-203G>T, XM_047430778.1:c.-3096G>T, XM_047430779.1:c.-1772G>T, XM_047430780.1:c.-1091G>T, XM_047430781.1:c.-576G>T, XM_047430784.1:c.-346G>T, NP_150280.1:p.Gln40His, NP_001002264.1:p.Gln40His, NP_001317472.1:p.Gln40His, XP_006719959.1:p.Gln40His, XP_005266653.1:p.Gln40His

Select item 145167147012.

rs1451671470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:42964113 (GRCh38)
13:43538249 (GRCh37)
Canonical SPDI:: NC_000013.11:42964112:T:A
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.42964113T>A, NC_000013.10:g.43538249T>A, NG_051573.1:g.33200A>T, NM_033255.5:c.358A>T, NM_033255.4:c.358A>T, NM_033255.3:c.358A>T, NM_001002264.4:c.358A>T, NM_001002264.3:c.358A>T, NM_001002264.2:c.358A>T, NM_001330543.2:c.358A>T, NM_001330543.1:c.358A>T, NM_001331228.2:c.-24A>T, NM_001331228.1:c.-24A>T, XM_006719896.5:c.358A>T, XM_006719896.4:c.358A>T, XM_006719896.3:c.358A>T, XM_006719896.2:c.358A>T, XM_006719896.1:c.358A>T, XM_011535312.3:c.-24A>T, XM_011535312.2:c.-24A>T, XM_011535312.1:c.-24A>T, XM_017020855.3:c.-24A>T, XM_017020855.2:c.-24A>T, XM_017020855.1:c.-24A>T, XM_005266596.2:c.358A>T, XM_005266596.1:c.358A>T, XM_011535313.2:c.-24A>T, XM_011535313.1:c.-24A>T, XM_047430778.1:c.-24A>T, XM_047430779.1:c.-24A>T, XM_047430780.1:c.-24A>T, XM_047430781.1:c.-24A>T, XM_047430784.1:c.-24A>T, NP_150280.1:p.Arg120Ter, NP_001002264.1:p.Arg120Ter, NP_001317472.1:p.Arg120Ter, XP_006719959.1:p.Arg120Ter, XP_005266653.1:p.Arg120Ter

Select item 145129171413.

rs1451291714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:42969120 (GRCh38)
13:43543256 (GRCh37)
Canonical SPDI:: NC_000013.11:42969119:G:A
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.42969120G>A, NC_000013.10:g.43543256G>A, NG_051573.1:g.28193C>T, NM_033255.5:c.305C>T, NM_033255.4:c.305C>T, NM_033255.3:c.305C>T, NM_001002264.4:c.305C>T, NM_001002264.3:c.305C>T, NM_001002264.2:c.305C>T, NM_001330543.2:c.305C>T, NM_001330543.1:c.305C>T, NM_001331228.2:c.-77C>T, NM_001331228.1:c.-77C>T, XM_006719896.5:c.305C>T, XM_006719896.4:c.305C>T, XM_006719896.3:c.305C>T, XM_006719896.2:c.305C>T, XM_006719896.1:c.305C>T, XM_011535312.3:c.-77C>T, XM_011535312.2:c.-77C>T, XM_011535312.1:c.-77C>T, XM_017020855.3:c.-77C>T, XM_017020855.2:c.-77C>T, XM_017020855.1:c.-77C>T, XM_005266596.2:c.305C>T, XM_005266596.1:c.305C>T, XM_011535313.2:c.-77C>T, XM_011535313.1:c.-77C>T, XM_047430778.1:c.-77C>T, XM_047430779.1:c.-77C>T, XM_047430780.1:c.-77C>T, XM_047430781.1:c.-77C>T, XM_047430784.1:c.-77C>T, NP_150280.1:p.Pro102Leu, NP_001002264.1:p.Pro102Leu, NP_001317472.1:p.Pro102Leu, XP_006719959.1:p.Pro102Leu, XP_005266653.1:p.Pro102Leu

Select item 144764013014.

rs1447640130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:42991991 (GRCh38)
13:43566127 (GRCh37)
Canonical SPDI:: NC_000013.11:42991990:C:T
Gene:: EPSTI1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.42991991C>T, NC_000013.10:g.43566127C>T, NG_051573.1:g.5322G>A, NM_033255.5:c.175G>A, NM_033255.4:c.175G>A, NM_033255.3:c.175G>A, NM_001002264.4:c.175G>A, NM_001002264.3:c.175G>A, NM_001002264.2:c.175G>A, NM_001330543.2:c.175G>A, NM_001330543.1:c.175G>A, NM_001331228.2:c.-148G>A, NM_001331228.1:c.-148G>A, XM_006719896.5:c.175G>A, XM_006719896.4:c.175G>A, XM_006719896.3:c.175G>A, XM_006719896.2:c.175G>A, XM_006719896.1:c.175G>A, XM_005266596.2:c.175G>A, XM_005266596.1:c.175G>A, XM_011535313.2:c.-148G>A, XM_011535313.1:c.-148G>A, XM_047430778.1:c.-3041G>A, XM_047430779.1:c.-1717G>A, XM_047430780.1:c.-1036G>A, XM_047430781.1:c.-521G>A, XM_047430784.1:c.-291G>A, NP_150280.1:p.Ala59Thr, NP_001002264.1:p.Ala59Thr, NP_001317472.1:p.Ala59Thr, XP_006719959.1:p.Ala59Thr, XP_005266653.1:p.Ala59Thr

Select item 144646798615.

rs1446467986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:42969095 (GRCh38)
13:43543231 (GRCh37)
Canonical SPDI:: NC_000013.11:42969094:T:C
Gene:: EPSTI1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.42969095T>C, NC_000013.10:g.43543231T>C, NG_051573.1:g.28218A>G, NM_033255.5:c.330A>G, NM_033255.4:c.330A>G, NM_033255.3:c.330A>G, NM_001002264.4:c.330A>G, NM_001002264.3:c.330A>G, NM_001002264.2:c.330A>G, NM_001330543.2:c.330A>G, NM_001330543.1:c.330A>G, NM_001331228.2:c.-52A>G, NM_001331228.1:c.-52A>G, XM_006719896.5:c.330A>G, XM_006719896.4:c.330A>G, XM_006719896.3:c.330A>G, XM_006719896.2:c.330A>G, XM_006719896.1:c.330A>G, XM_011535312.3:c.-52A>G, XM_011535312.2:c.-52A>G, XM_011535312.1:c.-52A>G, XM_017020855.3:c.-52A>G, XM_017020855.2:c.-52A>G, XM_017020855.1:c.-52A>G, XM_005266596.2:c.330A>G, XM_005266596.1:c.330A>G, XM_011535313.2:c.-52A>G, XM_011535313.1:c.-52A>G, XM_047430778.1:c.-52A>G, XM_047430779.1:c.-52A>G, XM_047430780.1:c.-52A>G, XM_047430781.1:c.-52A>G, XM_047430784.1:c.-52A>G

Select item 143754476916.

rs1437544769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:42895031 (GRCh38)
13:43469167 (GRCh37)
Canonical SPDI:: NC_000013.11:42895030:T:C,NC_000013.11:42895030:T:G
Gene:: EPSTI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.42895031T>C, NC_000013.11:g.42895031T>G, NC_000013.10:g.43469167T>C, NC_000013.10:g.43469167T>G, NG_051573.1:g.102282A>G, NG_051573.1:g.102282A>C, NM_033255.5:c.893A>G, NM_033255.5:c.893A>C, NM_033255.4:c.893A>G, NM_033255.4:c.893A>C, NM_033255.3:c.893A>G, NM_033255.3:c.893A>C, NM_001002264.4:c.926A>G, NM_001002264.4:c.926A>C, NM_001002264.3:c.926A>G, NM_001002264.3:c.926A>C, NM_001002264.2:c.926A>G, NM_001002264.2:c.926A>C, NM_001330543.2:c.926A>G, NM_001330543.2:c.926A>C, NM_001330543.1:c.926A>G, NM_001330543.1:c.926A>C, NM_001331228.2:c.512A>G, NM_001331228.2:c.512A>C, NM_001331228.1:c.512A>G, NM_001331228.1:c.512A>C, XM_011535312.3:c.545A>G, XM_011535312.3:c.545A>C, XM_011535312.2:c.545A>G, XM_011535312.2:c.545A>C, XM_011535312.1:c.545A>G, XM_011535312.1:c.545A>C, XM_017020855.3:c.545A>G, XM_017020855.3:c.545A>C, XM_017020855.2:c.545A>G, XM_017020855.2:c.545A>C, XM_017020855.1:c.545A>G, XM_017020855.1:c.545A>C, XM_011535314.2:c.380A>G, XM_011535314.2:c.380A>C, XM_011535314.1:c.380A>G, XM_011535314.1:c.380A>C, XM_005266596.2:c.893A>G, XM_005266596.2:c.893A>C, XM_005266596.1:c.893A>G, XM_005266596.1:c.893A>C, XM_011535313.2:c.545A>G, XM_011535313.2:c.545A>C, XM_011535313.1:c.545A>G, XM_011535313.1:c.545A>C, XM_047430778.1:c.545A>G, XM_047430778.1:c.545A>C, XM_047430779.1:c.545A>G, XM_047430779.1:c.545A>C, XM_047430780.1:c.545A>G, XM_047430780.1:c.545A>C, XM_047430781.1:c.545A>G, XM_047430781.1:c.545A>C, XM_047430784.1:c.512A>G, XM_047430784.1:c.512A>C, NP_150280.1:p.Asn298Ser, NP_150280.1:p.Asn298Thr, NP_001002264.1:p.Asn309Ser, NP_001002264.1:p.Asn309Thr, NP_001317472.1:p.Asn309Ser, NP_001317472.1:p.Asn309Thr, NP_001318157.1:p.Asn171Ser, NP_001318157.1:p.Asn171Thr, XP_011533614.1:p.Asn182Ser, XP_011533614.1:p.Asn182Thr, XP_016876344.1:p.Asn182Ser, XP_016876344.1:p.Asn182Thr, XP_011533616.1:p.Asn127Ser, XP_011533616.1:p.Asn127Thr, XP_005266653.1:p.Asn298Ser, XP_005266653.1:p.Asn298Thr, XP_011533615.1:p.Asn182Ser, XP_011533615.1:p.Asn182Thr, XP_047286734.1:p.Asn182Ser, XP_047286734.1:p.Asn182Thr, XP_047286735.1:p.Asn182Ser, XP_047286735.1:p.Asn182Thr, XP_047286736.1:p.Asn182Ser, XP_047286736.1:p.Asn182Thr, XP_047286737.1:p.Asn182Ser, XP_047286737.1:p.Asn182Thr, XP_047286740.1:p.Asn171Ser, XP_047286740.1:p.Asn171Thr

Select item 143736482717.

rs1437364827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:42992034 (GRCh38)
13:43566170 (GRCh37)
Canonical SPDI:: NC_000013.11:42992033:C:G
Gene:: EPSTI1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.42992034C>G, NC_000013.10:g.43566170C>G, NG_051573.1:g.5279G>C, NM_033255.5:c.132G>C, NM_033255.4:c.132G>C, NM_033255.3:c.132G>C, NM_001002264.4:c.132G>C, NM_001002264.3:c.132G>C, NM_001002264.2:c.132G>C, NM_001330543.2:c.132G>C, NM_001330543.1:c.132G>C, NM_001331228.2:c.-191G>C, NM_001331228.1:c.-191G>C, XM_006719896.5:c.132G>C, XM_006719896.4:c.132G>C, XM_006719896.3:c.132G>C, XM_006719896.2:c.132G>C, XM_006719896.1:c.132G>C, XM_005266596.2:c.132G>C, XM_005266596.1:c.132G>C, XM_011535313.2:c.-191G>C, XM_011535313.1:c.-191G>C, XM_047430778.1:c.-3084G>C, XM_047430779.1:c.-1760G>C, XM_047430780.1:c.-1079G>C, XM_047430781.1:c.-564G>C, XM_047430784.1:c.-334G>C, NP_150280.1:p.Leu44Phe, NP_001002264.1:p.Leu44Phe, NP_001317472.1:p.Leu44Phe, XP_006719959.1:p.Leu44Phe, XP_005266653.1:p.Leu44Phe

Select item 143434115218.

rs1434341152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:42900367 (GRCh38)
13:43474503 (GRCh37)
Canonical SPDI:: NC_000013.11:42900366:A:T
Gene:: EPSTI1 (Varview), LOC124903165 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.42900367A>T, NC_000013.10:g.43474503A>T, NG_051573.1:g.96946T>A, NM_033255.5:c.758T>A, NM_033255.4:c.758T>A, NM_033255.3:c.758T>A, NM_001002264.4:c.791T>A, NM_001002264.3:c.791T>A, NM_001002264.2:c.791T>A, NM_001330543.2:c.791T>A, NM_001330543.1:c.791T>A, NM_001331228.2:c.377T>A, NM_001331228.1:c.377T>A, XM_006719896.5:c.791T>A, XM_006719896.4:c.791T>A, XM_006719896.3:c.791T>A, XM_006719896.2:c.791T>A, XM_006719896.1:c.791T>A, XM_011535312.3:c.410T>A, XM_011535312.2:c.410T>A, XM_011535312.1:c.410T>A, XM_017020855.3:c.410T>A, XM_017020855.2:c.410T>A, XM_017020855.1:c.410T>A, XM_011535314.2:c.245T>A, XM_011535314.1:c.245T>A, XM_005266596.2:c.758T>A, XM_005266596.1:c.758T>A, XM_011535313.2:c.410T>A, XM_011535313.1:c.410T>A, XM_047430778.1:c.410T>A, XM_047430779.1:c.410T>A, XM_047430780.1:c.410T>A, XM_047430781.1:c.410T>A, XM_047430784.1:c.377T>A, NP_150280.1:p.Leu253Gln, NP_001002264.1:p.Leu264Gln, NP_001317472.1:p.Leu264Gln, NP_001318157.1:p.Leu126Gln, XP_006719959.1:p.Leu264Gln, XP_011533614.1:p.Leu137Gln, XP_016876344.1:p.Leu137Gln, XP_011533616.1:p.Leu82Gln, XP_005266653.1:p.Leu253Gln, XP_011533615.1:p.Leu137Gln, XP_047286734.1:p.Leu137Gln, XP_047286735.1:p.Leu137Gln, XP_047286736.1:p.Leu137Gln, XP_047286737.1:p.Leu137Gln, XP_047286740.1:p.Leu126Gln

Select item 143071715819.

rs1430717158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:42992109 (GRCh38)
13:43566245 (GRCh37)
Canonical SPDI:: NC_000013.11:42992108:G:C
Gene:: EPSTI1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.42992109G>C, NC_000013.10:g.43566245G>C, NG_051573.1:g.5204C>G, NM_033255.5:c.57C>G, NM_033255.4:c.57C>G, NM_033255.3:c.57C>G, NM_001002264.4:c.57C>G, NM_001002264.3:c.57C>G, NM_001002264.2:c.57C>G, NM_001330543.2:c.57C>G, NM_001330543.1:c.57C>G, NM_001331228.2:c.-266C>G, NM_001331228.1:c.-266C>G, XM_006719896.5:c.57C>G, XM_006719896.4:c.57C>G, XM_006719896.3:c.57C>G, XM_006719896.2:c.57C>G, XM_006719896.1:c.57C>G, XM_005266596.2:c.57C>G, XM_005266596.1:c.57C>G, XM_011535313.2:c.-266C>G, XM_011535313.1:c.-266C>G, XM_047430778.1:c.-3159C>G, XM_047430779.1:c.-1835C>G, XM_047430780.1:c.-1154C>G, XM_047430781.1:c.-639C>G, XM_047430784.1:c.-409C>G

Select item 142365631220.

rs1423656312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:42926361 (GRCh38)
13:43500497 (GRCh37)
Canonical SPDI:: NC_000013.11:42926360:A:G
Gene:: EPSTI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.42926361A>G, NC_000013.10:g.43500497A>G, NG_051573.1:g.70952T>C, NM_033255.5:c.632T>C, NM_033255.4:c.632T>C, NM_033255.3:c.632T>C, NM_001002264.4:c.632T>C, NM_001002264.3:c.632T>C, NM_001002264.2:c.632T>C, NM_001330543.2:c.632T>C, NM_001330543.1:c.632T>C, NM_001331228.2:c.251T>C, NM_001331228.1:c.251T>C, XM_006719896.5:c.632T>C, XM_006719896.4:c.632T>C, XM_006719896.3:c.632T>C, XM_006719896.2:c.632T>C, XM_006719896.1:c.632T>C, XM_011535312.3:c.251T>C, XM_011535312.2:c.251T>C, XM_011535312.1:c.251T>C, XM_017020855.3:c.251T>C, XM_017020855.2:c.251T>C, XM_017020855.1:c.251T>C, XM_011535314.2:c.86T>C, XM_011535314.1:c.86T>C, XM_005266596.2:c.632T>C, XM_005266596.1:c.632T>C, XM_011535313.2:c.251T>C, XM_011535313.1:c.251T>C, XM_047430778.1:c.251T>C, XM_047430779.1:c.251T>C, XM_047430780.1:c.251T>C, XM_047430781.1:c.251T>C, XM_047430784.1:c.251T>C, NP_150280.1:p.Val211Ala, NP_001002264.1:p.Val211Ala, NP_001317472.1:p.Val211Ala, NP_001318157.1:p.Val84Ala, XP_006719959.1:p.Val211Ala, XP_011533614.1:p.Val84Ala, XP_016876344.1:p.Val84Ala, XP_011533616.1:p.Val29Ala, XP_005266653.1:p.Val211Ala, XP_011533615.1:p.Val84Ala, XP_047286734.1:p.Val84Ala, XP_047286735.1:p.Val84Ala, XP_047286736.1:p.Val84Ala, XP_047286737.1:p.Val84Ala, XP_047286740.1:p.Val84Ala

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