SNP Links for Protein (Select 1034568953) - SNP

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Links from Protein

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Select item 14884747561.

rs1488474756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88913423 (GRCh38)
10:90673180 (GRCh37)
Canonical SPDI:: NC_000010.11:88913422:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.88913423C>T, NC_000010.10:g.90673180C>T, XM_006717930.4:c.743C>T, XM_006717930.3:c.743C>T, XM_006717930.2:c.743C>T, XM_006717930.1:c.743C>T, NM_020799.4:c.743C>T, NM_020799.3:c.743C>T, XM_011539985.3:c.743C>T, XM_011539985.2:c.743C>T, XM_011539985.1:c.743C>T, XM_017016457.3:c.743C>T, XM_017016457.2:c.743C>T, XM_017016457.1:c.743C>T, XM_011539983.2:c.743C>T, XM_011539983.1:c.743C>T, XM_017016456.2:c.743C>T, XM_017016456.1:c.743C>T, XM_017016458.2:c.425C>T, XM_017016458.1:c.425C>T, XM_047425551.1:c.743C>T, XM_047425553.1:c.743C>T, XM_047425554.1:c.743C>T, XM_047425552.1:c.743C>T, XM_047425555.1:c.743C>T, XP_006717993.1:p.Ala248Val, NP_065850.1:p.Ala248Val, XP_011538287.1:p.Ala248Val, XP_016871946.1:p.Ala248Val, XP_011538285.1:p.Ala248Val, XP_016871945.1:p.Ala248Val, XP_016871947.1:p.Ala142Val, XP_047281507.1:p.Ala248Val, XP_047281509.1:p.Ala248Val, XP_047281510.1:p.Ala248Val, XP_047281508.1:p.Ala248Val, XP_047281511.1:p.Ala248Val

Select item 14873361142.

rs1487336114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:88914534 (GRCh38)
10:90674291 (GRCh37)
Canonical SPDI:: NC_000010.11:88914533:A:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.88914534A>T, NC_000010.10:g.90674291A>T, XM_006717930.4:c.779A>T, XM_006717930.3:c.779A>T, XM_006717930.2:c.779A>T, XM_006717930.1:c.779A>T, NM_020799.4:c.779A>T, NM_020799.3:c.779A>T, XM_011539985.3:c.779A>T, XM_011539985.2:c.779A>T, XM_011539985.1:c.779A>T, XM_017016457.3:c.779A>T, XM_017016457.2:c.779A>T, XM_017016457.1:c.779A>T, XM_011539983.2:c.779A>T, XM_011539983.1:c.779A>T, XM_017016456.2:c.779A>T, XM_017016456.1:c.779A>T, XM_017016458.2:c.461A>T, XM_017016458.1:c.461A>T, XM_047425551.1:c.779A>T, XM_047425553.1:c.779A>T, XM_047425554.1:c.779A>T, XM_047425552.1:c.779A>T, XM_047425555.1:c.779A>T, XP_006717993.1:p.Asn260Ile, NP_065850.1:p.Asn260Ile, XP_011538287.1:p.Asn260Ile, XP_016871946.1:p.Asn260Ile, XP_011538285.1:p.Asn260Ile, XP_016871945.1:p.Asn260Ile, XP_016871947.1:p.Asn154Ile, XP_047281507.1:p.Asn260Ile, XP_047281509.1:p.Asn260Ile, XP_047281510.1:p.Asn260Ile, XP_047281508.1:p.Asn260Ile, XP_047281511.1:p.Asn260Ile

Select item 14853799323.

rs1485379932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88922339 (GRCh38)
10:90682096 (GRCh37)
Canonical SPDI:: NC_000010.11:88922338:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88922339C>T, NC_000010.10:g.90682096C>T, XM_006717930.4:c.1157C>T, XM_006717930.3:c.1157C>T, XM_006717930.2:c.1157C>T, XM_006717930.1:c.1157C>T, NM_020799.4:c.1157C>T, NM_020799.3:c.1157C>T, XM_011539985.3:c.1157C>T, XM_011539985.2:c.1157C>T, XM_011539985.1:c.1157C>T, XM_017016457.3:c.1019C>T, XM_017016457.2:c.1019C>T, XM_017016457.1:c.1019C>T, XM_011539983.2:c.1157C>T, XM_011539983.1:c.1157C>T, XM_017016456.2:c.1157C>T, XM_017016456.1:c.1157C>T, XM_017016458.2:c.839C>T, XM_017016458.1:c.839C>T, XM_047425551.1:c.1157C>T, XM_047425553.1:c.1157C>T, XM_047425554.1:c.1157C>T, XM_047425552.1:c.1157C>T, XM_047425555.1:c.1019C>T, XP_006717993.1:p.Thr386Ile, NP_065850.1:p.Thr386Ile, XP_011538287.1:p.Thr386Ile, XP_016871946.1:p.Thr340Ile, XP_011538285.1:p.Thr386Ile, XP_016871945.1:p.Thr386Ile, XP_016871947.1:p.Thr280Ile, XP_047281507.1:p.Thr386Ile, XP_047281509.1:p.Thr386Ile, XP_047281510.1:p.Thr386Ile, XP_047281508.1:p.Thr386Ile, XP_047281511.1:p.Thr340Ile

Select item 14754640544.

rs1475464054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88911005 (GRCh38)
10:90670762 (GRCh37)
Canonical SPDI:: NC_000010.11:88911004:A:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.88911005A>G, NC_000010.10:g.90670762A>G, XM_006717930.4:c.414A>G, XM_006717930.3:c.414A>G, XM_006717930.2:c.414A>G, XM_006717930.1:c.414A>G, NM_020799.4:c.414A>G, NM_020799.3:c.414A>G, XM_011539985.3:c.414A>G, XM_011539985.2:c.414A>G, XM_011539985.1:c.414A>G, XM_017016457.3:c.414A>G, XM_017016457.2:c.414A>G, XM_017016457.1:c.414A>G, XM_011539983.2:c.414A>G, XM_011539983.1:c.414A>G, XM_017016456.2:c.414A>G, XM_017016456.1:c.414A>G, XM_017016458.2:c.96A>G, XM_017016458.1:c.96A>G, XM_047425551.1:c.414A>G, XM_047425553.1:c.414A>G, XM_047425554.1:c.414A>G, XM_047425552.1:c.414A>G, XM_047425555.1:c.414A>G

Select item 14750984515.

rs1475098451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88914656 (GRCh38)
10:90674413 (GRCh37)
Canonical SPDI:: NC_000010.11:88914655:C:A
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.88914656C>A, NC_000010.10:g.90674413C>A, XM_006717930.4:c.901C>A, XM_006717930.3:c.901C>A, XM_006717930.2:c.901C>A, XM_006717930.1:c.901C>A, NM_020799.4:c.901C>A, NM_020799.3:c.901C>A, XM_011539985.3:c.901C>A, XM_011539985.2:c.901C>A, XM_011539985.1:c.901C>A, XM_017016457.3:c.901C>A, XM_017016457.2:c.901C>A, XM_017016457.1:c.901C>A, XM_011539983.2:c.901C>A, XM_011539983.1:c.901C>A, XM_017016456.2:c.901C>A, XM_017016456.1:c.901C>A, XM_017016458.2:c.583C>A, XM_017016458.1:c.583C>A, XM_047425551.1:c.901C>A, XM_047425553.1:c.901C>A, XM_047425554.1:c.901C>A, XM_047425552.1:c.901C>A, XM_047425555.1:c.901C>A, XP_006717993.1:p.Leu301Met, NP_065850.1:p.Leu301Met, XP_011538287.1:p.Leu301Met, XP_016871946.1:p.Leu301Met, XP_011538285.1:p.Leu301Met, XP_016871945.1:p.Leu301Met, XP_016871947.1:p.Leu195Met, XP_047281507.1:p.Leu301Met, XP_047281509.1:p.Leu301Met, XP_047281510.1:p.Leu301Met, XP_047281508.1:p.Leu301Met, XP_047281511.1:p.Leu301Met

Select item 14746746576.

rs1474674657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88908765 (GRCh38)
10:90668522 (GRCh37)
Canonical SPDI:: NC_000010.11:88908764:G:A
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88908765G>A, NC_000010.10:g.90668522G>A, XM_006717930.4:c.312G>A, XM_006717930.3:c.312G>A, XM_006717930.2:c.312G>A, XM_006717930.1:c.312G>A, NM_020799.4:c.312G>A, NM_020799.3:c.312G>A, XM_011539985.3:c.312G>A, XM_011539985.2:c.312G>A, XM_011539985.1:c.312G>A, XM_017016457.3:c.312G>A, XM_017016457.2:c.312G>A, XM_017016457.1:c.312G>A, XM_011539983.2:c.312G>A, XM_011539983.1:c.312G>A, XM_017016456.2:c.312G>A, XM_017016456.1:c.312G>A, XM_017016458.2:c.-7G>A, XM_017016458.1:c.-7G>A, XM_047425551.1:c.312G>A, XM_047425553.1:c.312G>A, XM_047425554.1:c.312G>A, XM_047425552.1:c.312G>A, XM_047425555.1:c.312G>A, NM_017597.1:c.*175G>A

Select item 14709927957.

rs1470992795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88908748 (GRCh38)
10:90668505 (GRCh37)
Canonical SPDI:: NC_000010.11:88908747:G:A
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.88908748G>A, NC_000010.10:g.90668505G>A, XM_006717930.4:c.295G>A, XM_006717930.3:c.295G>A, XM_006717930.2:c.295G>A, XM_006717930.1:c.295G>A, NM_020799.4:c.295G>A, NM_020799.3:c.295G>A, XM_011539985.3:c.295G>A, XM_011539985.2:c.295G>A, XM_011539985.1:c.295G>A, XM_017016457.3:c.295G>A, XM_017016457.2:c.295G>A, XM_017016457.1:c.295G>A, XM_011539983.2:c.295G>A, XM_011539983.1:c.295G>A, XM_017016456.2:c.295G>A, XM_017016456.1:c.295G>A, XM_017016458.2:c.-24G>A, XM_017016458.1:c.-24G>A, XM_047425551.1:c.295G>A, XM_047425553.1:c.295G>A, XM_047425554.1:c.295G>A, XM_047425552.1:c.295G>A, XM_047425555.1:c.295G>A, NM_017597.1:c.*158G>A, XP_006717993.1:p.Ala99Thr, NP_065850.1:p.Ala99Thr, XP_011538287.1:p.Ala99Thr, XP_016871946.1:p.Ala99Thr, XP_011538285.1:p.Ala99Thr, XP_016871945.1:p.Ala99Thr, XP_047281507.1:p.Ala99Thr, XP_047281509.1:p.Ala99Thr, XP_047281510.1:p.Ala99Thr, XP_047281508.1:p.Ala99Thr, XP_047281511.1:p.Ala99Thr

Select item 14684251378.

rs1468425137 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:88914563 (GRCh38)
10:90674321 (GRCh37)
Canonical SPDI:: NC_000010.11:88914563:TTTT:TTTTT
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.88914567dup, NC_000010.10:g.90674324dup, XM_006717930.4:c.812dup, XM_006717930.3:c.812dup, XM_006717930.2:c.812dup, XM_006717930.1:c.812dup, NM_020799.4:c.812dup, NM_020799.3:c.812dup, XM_011539985.3:c.812dup, XM_011539985.2:c.812dup, XM_011539985.1:c.812dup, XM_017016457.3:c.812dup, XM_017016457.2:c.812dup, XM_017016457.1:c.812dup, XM_011539983.2:c.812dup, XM_011539983.1:c.812dup, XM_017016456.2:c.812dup, XM_017016456.1:c.812dup, XM_017016458.2:c.494dup, XM_017016458.1:c.494dup, XM_047425551.1:c.812dup, XM_047425553.1:c.812dup, XM_047425554.1:c.812dup, XM_047425552.1:c.812dup, XM_047425555.1:c.812dup, XP_006717993.1:p.Leu271fs, NP_065850.1:p.Leu271fs, XP_011538287.1:p.Leu271fs, XP_016871946.1:p.Leu271fs, XP_011538285.1:p.Leu271fs, XP_016871945.1:p.Leu271fs, XP_016871947.1:p.Leu165fs, XP_047281507.1:p.Leu271fs, XP_047281509.1:p.Leu271fs, XP_047281510.1:p.Leu271fs, XP_047281508.1:p.Leu271fs, XP_047281511.1:p.Leu271fs

Select item 14667387509.

rs1466738750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:88905454 (GRCh38)
10:90665211 (GRCh37)
Canonical SPDI:: NC_000010.11:88905453:T:A,NC_000010.11:88905453:T:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.88905454T>A, NC_000010.11:g.88905454T>G, NC_000010.10:g.90665211T>A, NC_000010.10:g.90665211T>G, XM_006717930.4:c.42T>A, XM_006717930.4:c.42T>G, XM_006717930.3:c.42T>A, XM_006717930.3:c.42T>G, XM_006717930.2:c.42T>A, XM_006717930.2:c.42T>G, XM_006717930.1:c.42T>A, XM_006717930.1:c.42T>G, NM_020799.4:c.42T>A, NM_020799.4:c.42T>G, NM_020799.3:c.42T>A, NM_020799.3:c.42T>G, XM_011539985.3:c.42T>A, XM_011539985.3:c.42T>G, XM_011539985.2:c.42T>A, XM_011539985.2:c.42T>G, XM_011539985.1:c.42T>A, XM_011539985.1:c.42T>G, XM_017016457.3:c.42T>A, XM_017016457.3:c.42T>G, XM_017016457.2:c.42T>A, XM_017016457.2:c.42T>G, XM_017016457.1:c.42T>A, XM_017016457.1:c.42T>G, XM_011539983.2:c.42T>A, XM_011539983.2:c.42T>G, XM_011539983.1:c.42T>A, XM_011539983.1:c.42T>G, XM_017016456.2:c.42T>A, XM_017016456.2:c.42T>G, XM_017016456.1:c.42T>A, XM_017016456.1:c.42T>G, XM_047425551.1:c.42T>A, XM_047425551.1:c.42T>G, XM_047425553.1:c.42T>A, XM_047425553.1:c.42T>G, XM_047425554.1:c.42T>A, XM_047425554.1:c.42T>G, XM_047425552.1:c.42T>A, XM_047425552.1:c.42T>G, XM_047425555.1:c.42T>A, XM_047425555.1:c.42T>G

Select item 146672886010.

rs1466728860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:88922421 (GRCh38)
10:90682178 (GRCh37)
Canonical SPDI:: NC_000010.11:88922420:G:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88922421G>T, NC_000010.10:g.90682178G>T, XM_006717930.4:c.1239G>T, XM_006717930.3:c.1239G>T, XM_006717930.2:c.1239G>T, XM_006717930.1:c.1239G>T, NM_020799.4:c.1239G>T, NM_020799.3:c.1239G>T, XM_011539985.3:c.1239G>T, XM_011539985.2:c.1239G>T, XM_011539985.1:c.1239G>T, XM_017016457.3:c.1101G>T, XM_017016457.2:c.1101G>T, XM_017016457.1:c.1101G>T, XM_011539983.2:c.1239G>T, XM_011539983.1:c.1239G>T, XM_017016456.2:c.1239G>T, XM_017016456.1:c.1239G>T, XM_017016458.2:c.921G>T, XM_017016458.1:c.921G>T, XM_047425551.1:c.1239G>T, XM_047425553.1:c.1239G>T, XM_047425554.1:c.1239G>T, XM_047425552.1:c.1239G>T, XM_047425555.1:c.1101G>T, XP_006717993.1:p.Glu413Asp, NP_065850.1:p.Glu413Asp, XP_011538287.1:p.Glu413Asp, XP_016871946.1:p.Glu367Asp, XP_011538285.1:p.Glu413Asp, XP_016871945.1:p.Glu413Asp, XP_016871947.1:p.Glu307Asp, XP_047281507.1:p.Glu413Asp, XP_047281509.1:p.Glu413Asp, XP_047281510.1:p.Glu413Asp, XP_047281508.1:p.Glu413Asp, XP_047281511.1:p.Glu367Asp

Select item 146612674211.

rs1466126742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88913358 (GRCh38)
10:90673115 (GRCh37)
Canonical SPDI:: NC_000010.11:88913357:T:C
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.88913358T>C, NC_000010.10:g.90673115T>C, XM_006717930.4:c.678T>C, XM_006717930.3:c.678T>C, XM_006717930.2:c.678T>C, XM_006717930.1:c.678T>C, NM_020799.4:c.678T>C, NM_020799.3:c.678T>C, XM_011539985.3:c.678T>C, XM_011539985.2:c.678T>C, XM_011539985.1:c.678T>C, XM_017016457.3:c.678T>C, XM_017016457.2:c.678T>C, XM_017016457.1:c.678T>C, XM_011539983.2:c.678T>C, XM_011539983.1:c.678T>C, XM_017016456.2:c.678T>C, XM_017016456.1:c.678T>C, XM_017016458.2:c.360T>C, XM_017016458.1:c.360T>C, XM_047425551.1:c.678T>C, XM_047425553.1:c.678T>C, XM_047425554.1:c.678T>C, XM_047425552.1:c.678T>C, XM_047425555.1:c.678T>C

Select item 146407941212.

rs1464079412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88908718 (GRCh38)
10:90668475 (GRCh37)
Canonical SPDI:: NC_000010.11:88908717:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88908718C>T, NC_000010.10:g.90668475C>T, XM_006717930.4:c.265C>T, XM_006717930.3:c.265C>T, XM_006717930.2:c.265C>T, XM_006717930.1:c.265C>T, NM_020799.4:c.265C>T, NM_020799.3:c.265C>T, XM_011539985.3:c.265C>T, XM_011539985.2:c.265C>T, XM_011539985.1:c.265C>T, XM_017016457.3:c.265C>T, XM_017016457.2:c.265C>T, XM_017016457.1:c.265C>T, XM_011539983.2:c.265C>T, XM_011539983.1:c.265C>T, XM_017016456.2:c.265C>T, XM_017016456.1:c.265C>T, XM_017016458.2:c.-54C>T, XM_017016458.1:c.-54C>T, XM_047425551.1:c.265C>T, XM_047425553.1:c.265C>T, XM_047425554.1:c.265C>T, XM_047425552.1:c.265C>T, XM_047425555.1:c.265C>T, NM_017597.1:c.*128C>T, XP_006717993.1:p.Leu89Phe, NP_065850.1:p.Leu89Phe, XP_011538287.1:p.Leu89Phe, XP_016871946.1:p.Leu89Phe, XP_011538285.1:p.Leu89Phe, XP_016871945.1:p.Leu89Phe, XP_047281507.1:p.Leu89Phe, XP_047281509.1:p.Leu89Phe, XP_047281510.1:p.Leu89Phe, XP_047281508.1:p.Leu89Phe, XP_047281511.1:p.Leu89Phe

Select item 145885556313.

rs1458855563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88910933 (GRCh38)
10:90670690 (GRCh37)
Canonical SPDI:: NC_000010.11:88910932:A:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88910933A>G, NC_000010.10:g.90670690A>G, XM_006717930.4:c.342A>G, XM_006717930.3:c.342A>G, XM_006717930.2:c.342A>G, XM_006717930.1:c.342A>G, NM_020799.4:c.342A>G, NM_020799.3:c.342A>G, XM_011539985.3:c.342A>G, XM_011539985.2:c.342A>G, XM_011539985.1:c.342A>G, XM_017016457.3:c.342A>G, XM_017016457.2:c.342A>G, XM_017016457.1:c.342A>G, XM_011539983.2:c.342A>G, XM_011539983.1:c.342A>G, XM_017016456.2:c.342A>G, XM_017016456.1:c.342A>G, XM_017016458.2:c.24A>G, XM_017016458.1:c.24A>G, XM_047425551.1:c.342A>G, XM_047425553.1:c.342A>G, XM_047425554.1:c.342A>G, XM_047425552.1:c.342A>G, XM_047425555.1:c.342A>G

Select item 145695542914.

rs1456955429 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:88914535 (GRCh38)
10:90674292 (GRCh37)
Canonical SPDI:: NC_000010.11:88914534:T:G
Gene:: STAMBPL1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.88914535T>G, NC_000010.10:g.90674292T>G, XM_006717930.4:c.780T>G, XM_006717930.3:c.780T>G, XM_006717930.2:c.780T>G, XM_006717930.1:c.780T>G, NM_020799.4:c.780T>G, NM_020799.3:c.780T>G, XM_011539985.3:c.780T>G, XM_011539985.2:c.780T>G, XM_011539985.1:c.780T>G, XM_017016457.3:c.780T>G, XM_017016457.2:c.780T>G, XM_017016457.1:c.780T>G, XM_011539983.2:c.780T>G, XM_011539983.1:c.780T>G, XM_017016456.2:c.780T>G, XM_017016456.1:c.780T>G, XM_017016458.2:c.462T>G, XM_017016458.1:c.462T>G, XM_047425551.1:c.780T>G, XM_047425553.1:c.780T>G, XM_047425554.1:c.780T>G, XM_047425552.1:c.780T>G, XM_047425555.1:c.780T>G, XP_006717993.1:p.Asn260Lys, NP_065850.1:p.Asn260Lys, XP_011538287.1:p.Asn260Lys, XP_016871946.1:p.Asn260Lys, XP_011538285.1:p.Asn260Lys, XP_016871945.1:p.Asn260Lys, XP_016871947.1:p.Asn154Lys, XP_047281507.1:p.Asn260Lys, XP_047281509.1:p.Asn260Lys, XP_047281510.1:p.Asn260Lys, XP_047281508.1:p.Asn260Lys, XP_047281511.1:p.Asn260Lys

Select item 144856509515.

rs1448565095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:88922407 (GRCh38)
10:90682164 (GRCh37)
Canonical SPDI:: NC_000010.11:88922406:C:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88922407C>G, NC_000010.10:g.90682164C>G, XM_006717930.4:c.1225C>G, XM_006717930.3:c.1225C>G, XM_006717930.2:c.1225C>G, XM_006717930.1:c.1225C>G, NM_020799.4:c.1225C>G, NM_020799.3:c.1225C>G, XM_011539985.3:c.1225C>G, XM_011539985.2:c.1225C>G, XM_011539985.1:c.1225C>G, XM_017016457.3:c.1087C>G, XM_017016457.2:c.1087C>G, XM_017016457.1:c.1087C>G, XM_011539983.2:c.1225C>G, XM_011539983.1:c.1225C>G, XM_017016456.2:c.1225C>G, XM_017016456.1:c.1225C>G, XM_017016458.2:c.907C>G, XM_017016458.1:c.907C>G, XM_047425551.1:c.1225C>G, XM_047425553.1:c.1225C>G, XM_047425554.1:c.1225C>G, XM_047425552.1:c.1225C>G, XM_047425555.1:c.1087C>G, XP_006717993.1:p.Pro409Ala, NP_065850.1:p.Pro409Ala, XP_011538287.1:p.Pro409Ala, XP_016871946.1:p.Pro363Ala, XP_011538285.1:p.Pro409Ala, XP_016871945.1:p.Pro409Ala, XP_016871947.1:p.Pro303Ala, XP_047281507.1:p.Pro409Ala, XP_047281509.1:p.Pro409Ala, XP_047281510.1:p.Pro409Ala, XP_047281508.1:p.Pro409Ala, XP_047281511.1:p.Pro363Ala

Select item 144778489516.

rs1447784895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88923194 (GRCh38)
10:90682951 (GRCh37)
Canonical SPDI:: NC_000010.11:88923193:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88923194C>T, NC_000010.10:g.90682951C>T, XM_006717930.4:c.1281C>T, XM_006717930.3:c.1281C>T, XM_006717930.2:c.1281C>T, XM_006717930.1:c.1281C>T, NM_020799.4:c.1281C>T, NM_020799.3:c.1281C>T, XM_011539985.3:c.1281C>T, XM_011539985.2:c.1281C>T, XM_011539985.1:c.1281C>T, XM_017016457.3:c.1143C>T, XM_017016457.2:c.1143C>T, XM_017016457.1:c.1143C>T, XM_011539983.2:c.1281C>T, XM_011539983.1:c.1281C>T, XM_017016456.2:c.1281C>T, XM_017016456.1:c.1281C>T, XM_017016458.2:c.963C>T, XM_017016458.1:c.963C>T, XM_047425551.1:c.1281C>T, XM_047425553.1:c.1281C>T, XM_047425554.1:c.1281C>T, XM_047425552.1:c.1281C>T, XM_047425555.1:c.1143C>T

Select item 144667570917.

rs1446675709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88922399 (GRCh38)
10:90682156 (GRCh37)
Canonical SPDI:: NC_000010.11:88922398:G:A
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.88922399G>A, NC_000010.10:g.90682156G>A, XM_006717930.4:c.1217G>A, XM_006717930.3:c.1217G>A, XM_006717930.2:c.1217G>A, XM_006717930.1:c.1217G>A, NM_020799.4:c.1217G>A, NM_020799.3:c.1217G>A, XM_011539985.3:c.1217G>A, XM_011539985.2:c.1217G>A, XM_011539985.1:c.1217G>A, XM_017016457.3:c.1079G>A, XM_017016457.2:c.1079G>A, XM_017016457.1:c.1079G>A, XM_011539983.2:c.1217G>A, XM_011539983.1:c.1217G>A, XM_017016456.2:c.1217G>A, XM_017016456.1:c.1217G>A, XM_017016458.2:c.899G>A, XM_017016458.1:c.899G>A, XM_047425551.1:c.1217G>A, XM_047425553.1:c.1217G>A, XM_047425554.1:c.1217G>A, XM_047425552.1:c.1217G>A, XM_047425555.1:c.1079G>A, XP_006717993.1:p.Gly406Asp, NP_065850.1:p.Gly406Asp, XP_011538287.1:p.Gly406Asp, XP_016871946.1:p.Gly360Asp, XP_011538285.1:p.Gly406Asp, XP_016871945.1:p.Gly406Asp, XP_016871947.1:p.Gly300Asp, XP_047281507.1:p.Gly406Asp, XP_047281509.1:p.Gly406Asp, XP_047281510.1:p.Gly406Asp, XP_047281508.1:p.Gly406Asp, XP_047281511.1:p.Gly360Asp

Select item 144543870618.

rs1445438706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88913322 (GRCh38)
10:90673079 (GRCh37)
Canonical SPDI:: NC_000010.11:88913321:T:C
Gene:: STAMBPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88913322T>C, NC_000010.10:g.90673079T>C, XM_006717930.4:c.642T>C, XM_006717930.3:c.642T>C, XM_006717930.2:c.642T>C, XM_006717930.1:c.642T>C, NM_020799.4:c.642T>C, NM_020799.3:c.642T>C, XM_011539985.3:c.642T>C, XM_011539985.2:c.642T>C, XM_011539985.1:c.642T>C, XM_017016457.3:c.642T>C, XM_017016457.2:c.642T>C, XM_017016457.1:c.642T>C, XM_011539983.2:c.642T>C, XM_011539983.1:c.642T>C, XM_017016456.2:c.642T>C, XM_017016456.1:c.642T>C, XM_017016458.2:c.324T>C, XM_017016458.1:c.324T>C, XM_047425551.1:c.642T>C, XM_047425553.1:c.642T>C, XM_047425554.1:c.642T>C, XM_047425552.1:c.642T>C, XM_047425555.1:c.642T>C

Select item 144390415119.

rs1443904151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88921332 (GRCh38)
10:90681089 (GRCh37)
Canonical SPDI:: NC_000010.11:88921331:A:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88921332A>G, NC_000010.10:g.90681089A>G, XM_006717930.4:c.1091A>G, XM_006717930.3:c.1091A>G, XM_006717930.2:c.1091A>G, XM_006717930.1:c.1091A>G, NM_020799.4:c.1091A>G, NM_020799.3:c.1091A>G, XM_011539985.3:c.1091A>G, XM_011539985.2:c.1091A>G, XM_011539985.1:c.1091A>G, XM_017016457.3:c.953A>G, XM_017016457.2:c.953A>G, XM_017016457.1:c.953A>G, XM_011539983.2:c.1091A>G, XM_011539983.1:c.1091A>G, XM_017016456.2:c.1091A>G, XM_017016456.1:c.1091A>G, XM_017016458.2:c.773A>G, XM_017016458.1:c.773A>G, XM_047425551.1:c.1091A>G, XM_047425553.1:c.1091A>G, XM_047425554.1:c.1091A>G, XM_047425552.1:c.1091A>G, XM_047425555.1:c.953A>G, XP_006717993.1:p.His364Arg, NP_065850.1:p.His364Arg, XP_011538287.1:p.His364Arg, XP_016871946.1:p.His318Arg, XP_011538285.1:p.His364Arg, XP_016871945.1:p.His364Arg, XP_016871947.1:p.His258Arg, XP_047281507.1:p.His364Arg, XP_047281509.1:p.His364Arg, XP_047281510.1:p.His364Arg, XP_047281508.1:p.His364Arg, XP_047281511.1:p.His318Arg

Select item 144102259520.

rs1441022595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88914542 (GRCh38)
10:90674299 (GRCh37)
Canonical SPDI:: NC_000010.11:88914541:G:A
Gene:: STAMBPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.88914542G>A, NC_000010.10:g.90674299G>A, XM_006717930.4:c.787G>A, XM_006717930.3:c.787G>A, XM_006717930.2:c.787G>A, XM_006717930.1:c.787G>A, NM_020799.4:c.787G>A, NM_020799.3:c.787G>A, XM_011539985.3:c.787G>A, XM_011539985.2:c.787G>A, XM_011539985.1:c.787G>A, XM_017016457.3:c.787G>A, XM_017016457.2:c.787G>A, XM_017016457.1:c.787G>A, XM_011539983.2:c.787G>A, XM_011539983.1:c.787G>A, XM_017016456.2:c.787G>A, XM_017016456.1:c.787G>A, XM_017016458.2:c.469G>A, XM_017016458.1:c.469G>A, XM_047425551.1:c.787G>A, XM_047425553.1:c.787G>A, XM_047425554.1:c.787G>A, XM_047425552.1:c.787G>A, XM_047425555.1:c.787G>A, XP_006717993.1:p.Val263Ile, NP_065850.1:p.Val263Ile, XP_011538287.1:p.Val263Ile, XP_016871946.1:p.Val263Ile, XP_011538285.1:p.Val263Ile, XP_016871945.1:p.Val263Ile, XP_016871947.1:p.Val157Ile, XP_047281507.1:p.Val263Ile, XP_047281509.1:p.Val263Ile, XP_047281510.1:p.Val263Ile, XP_047281508.1:p.Val263Ile, XP_047281511.1:p.Val263Ile

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