SNP Links for Protein (Select 13654270) - SNP

Links from Protein

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Select item 14884890801.

rs1488489080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:65529664 (GRCh38)
X:64749544 (GRCh37)
Canonical SPDI:: NC_000023.11:65529663:A:G
Gene:: LAS1L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.65529664A>G, NC_000023.10:g.64749544A>G, NG_016369.1:g.10143T>C, NM_031206.7:c.729T>C, NM_031206.6:c.729T>C, NM_031206.5:c.729T>C, NM_031206.4:c.729T>C, NM_001170649.2:c.729T>C, NM_001170649.1:c.729T>C, NM_001170650.2:c.603T>C, NM_001170650.1:c.603T>C, NM_001375335.1:c.729T>C, NM_001375334.1:c.729T>C, NM_001375336.1:c.729T>C, NM_001375337.1:c.729T>C, NR_164681.1:n.801T>C, NM_001375328.1:c.729T>C, NM_001375333.1:c.729T>C, NM_001375330.1:c.729T>C, NM_001375331.1:c.729T>C, NM_001375332.1:c.-68T>C, NM_001375329.1:c.729T>C, XM_005262306.5:c.729T>C, XM_011531046.3:c.729T>C, XM_011531046.2:c.729T>C, XM_011531046.1:c.729T>C, XR_938412.3:n.801T>C, XR_938412.2:n.792T>C, XR_938412.1:n.805T>C, XM_011531045.3:c.603T>C, XM_011531045.2:c.603T>C, XM_011531045.1:c.603T>C, XM_047442538.1:c.729T>C, XM_047442541.1:c.729T>C, XM_047442539.1:c.729T>C, NM_001410733.1:c.729T>C, XM_047442540.1:c.729T>C, XR_007068201.1:n.801T>C, XM_047442537.1:c.729T>C, XM_047442542.1:c.-68T>C

Select item 14865241172.

rs1486524117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65523631 (GRCh38)
X:64743511 (GRCh37)
Canonical SPDI:: NC_000023.11:65523630:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000023.11:g.65523631G>A, NC_000023.10:g.64743511G>A, NG_016369.1:g.16176C>T, NM_031206.7:c.1377C>T, NM_031206.6:c.1377C>T, NM_031206.5:c.1377C>T, NM_031206.4:c.1377C>T, NM_001170649.2:c.1326C>T, NM_001170649.1:c.1326C>T, NM_001170650.2:c.1200C>T, NM_001170650.1:c.1200C>T, NM_001375335.1:c.1377C>T, NM_001375334.1:c.1377C>T, NM_001375336.1:c.1326C>T, NM_001375337.1:c.1326C>T, NR_164681.1:n.1449C>T, NM_001375328.1:c.1377C>T, NM_001375333.1:c.1326C>T, NM_001375330.1:c.1377C>T, NM_001375331.1:c.1326C>T, NM_001375332.1:c.420C>T, NM_001375329.1:c.1377C>T, XM_005262306.5:c.1377C>T, XM_011531046.3:c.1377C>T, XM_011531046.2:c.1377C>T, XM_011531046.1:c.1377C>T, XR_938412.3:n.1449C>T, XR_938412.2:n.1440C>T, XR_938412.1:n.1453C>T, XM_011531045.3:c.1251C>T, XM_011531045.2:c.1251C>T, XM_011531045.1:c.1251C>T, XM_047442538.1:c.1377C>T, XM_047442541.1:c.1326C>T, XM_047442539.1:c.1326C>T, NM_001410733.1:c.1377C>T, XM_047442540.1:c.1326C>T, XR_007068201.1:n.1449C>T, XM_047442537.1:c.1326C>T, XM_047442542.1:c.471C>T

Select item 14836650773.

rs1483665077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:65534682 (GRCh38)
X:64754562 (GRCh37)
Canonical SPDI:: NC_000023.11:65534681:C:T
Gene:: LAS1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000023.11:g.65534682C>T, NC_000023.10:g.64754562C>T, NG_016369.1:g.5125G>A, NM_031206.7:c.34G>A, NM_031206.6:c.34G>A, NM_031206.5:c.34G>A, NM_031206.4:c.34G>A, NM_001170649.2:c.34G>A, NM_001170649.1:c.34G>A, NM_001170650.2:c.34G>A, NM_001170650.1:c.34G>A, NM_001375335.1:c.34G>A, NM_001375334.1:c.34G>A, NM_001375336.1:c.34G>A, NM_001375337.1:c.34G>A, NR_164681.1:n.106G>A, NM_001375328.1:c.34G>A, NM_001375333.1:c.34G>A, NM_001375330.1:c.34G>A, NM_001375331.1:c.34G>A, NM_001375332.1:c.-763G>A, NM_001375329.1:c.34G>A, XM_005262306.5:c.34G>A, XM_011531046.3:c.34G>A, XM_011531046.2:c.34G>A, XM_011531046.1:c.34G>A, XR_938412.3:n.106G>A, XR_938412.2:n.97G>A, XR_938412.1:n.110G>A, XM_011531045.3:c.34G>A, XM_011531045.2:c.34G>A, XM_011531045.1:c.34G>A, XM_047442538.1:c.34G>A, XM_047442541.1:c.34G>A, XM_047442539.1:c.34G>A, NM_001410733.1:c.34G>A, XM_047442540.1:c.34G>A, XR_007068201.1:n.106G>A, XM_047442537.1:c.34G>A, NP_112483.1:p.Gly12Ser, NP_001164120.1:p.Gly12Ser, NP_001164121.1:p.Gly12Ser, NP_001362264.1:p.Gly12Ser, NP_001362263.1:p.Gly12Ser, NP_001362265.1:p.Gly12Ser, NP_001362266.1:p.Gly12Ser, NP_001362257.1:p.Gly12Ser, NP_001362262.1:p.Gly12Ser, NP_001362259.1:p.Gly12Ser, NP_001362260.1:p.Gly12Ser, NP_001362258.1:p.Gly12Ser, XP_005262363.1:p.Gly12Ser, XP_011529348.1:p.Gly12Ser, XP_011529347.1:p.Gly12Ser, XP_047298494.1:p.Gly12Ser, XP_047298497.1:p.Gly12Ser, XP_047298495.1:p.Gly12Ser, XP_047298496.1:p.Gly12Ser, XP_047298493.1:p.Gly12Ser

Select item 14818078654.

rs1481807865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:65534667 (GRCh38)
X:64754547 (GRCh37)
Canonical SPDI:: NC_000023.11:65534666:C:A
Gene:: LAS1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000023.11:g.65534667C>A, NC_000023.10:g.64754547C>A, NG_016369.1:g.5140G>T, NM_031206.7:c.49G>T, NM_031206.6:c.49G>T, NM_031206.5:c.49G>T, NM_031206.4:c.49G>T, NM_001170649.2:c.49G>T, NM_001170649.1:c.49G>T, NM_001170650.2:c.49G>T, NM_001170650.1:c.49G>T, NM_001375335.1:c.49G>T, NM_001375334.1:c.49G>T, NM_001375336.1:c.49G>T, NM_001375337.1:c.49G>T, NR_164681.1:n.121G>T, NM_001375328.1:c.49G>T, NM_001375333.1:c.49G>T, NM_001375330.1:c.49G>T, NM_001375331.1:c.49G>T, NM_001375332.1:c.-748G>T, NM_001375329.1:c.49G>T, XM_005262306.5:c.49G>T, XM_011531046.3:c.49G>T, XM_011531046.2:c.49G>T, XM_011531046.1:c.49G>T, XR_938412.3:n.121G>T, XR_938412.2:n.112G>T, XR_938412.1:n.125G>T, XM_011531045.3:c.49G>T, XM_011531045.2:c.49G>T, XM_011531045.1:c.49G>T, XM_047442538.1:c.49G>T, XM_047442541.1:c.49G>T, XM_047442539.1:c.49G>T, NM_001410733.1:c.49G>T, XM_047442540.1:c.49G>T, XR_007068201.1:n.121G>T, XM_047442537.1:c.49G>T, NP_112483.1:p.Asp17Tyr, NP_001164120.1:p.Asp17Tyr, NP_001164121.1:p.Asp17Tyr, NP_001362264.1:p.Asp17Tyr, NP_001362263.1:p.Asp17Tyr, NP_001362265.1:p.Asp17Tyr, NP_001362266.1:p.Asp17Tyr, NP_001362257.1:p.Asp17Tyr, NP_001362262.1:p.Asp17Tyr, NP_001362259.1:p.Asp17Tyr, NP_001362260.1:p.Asp17Tyr, NP_001362258.1:p.Asp17Tyr, XP_005262363.1:p.Asp17Tyr, XP_011529348.1:p.Asp17Tyr, XP_011529347.1:p.Asp17Tyr, XP_047298494.1:p.Asp17Tyr, XP_047298497.1:p.Asp17Tyr, XP_047298495.1:p.Asp17Tyr, XP_047298496.1:p.Asp17Tyr, XP_047298493.1:p.Asp17Tyr

Select item 14808423565.

rs1480842356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:65518399 (GRCh38)
X:64738279 (GRCh37)
Canonical SPDI:: NC_000023.11:65518398:G:A,NC_000023.11:65518398:G:C
Gene:: LAS1L (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.65518399G>A, NC_000023.11:g.65518399G>C, NC_000023.10:g.64738279G>A, NC_000023.10:g.64738279G>C, NG_016369.1:g.21408C>T, NG_016369.1:g.21408C>G, NM_031206.7:c.1515C>T, NM_031206.7:c.1515C>G, NM_031206.6:c.1515C>T, NM_031206.6:c.1515C>G, NM_031206.5:c.1515C>T, NM_031206.5:c.1515C>G, NM_031206.4:c.1515C>T, NM_031206.4:c.1515C>G, NM_001170649.2:c.1464C>T, NM_001170649.2:c.1464C>G, NM_001170649.1:c.1464C>T, NM_001170649.1:c.1464C>G, NM_001170650.2:c.1338C>T, NM_001170650.2:c.1338C>G, NM_001170650.1:c.1338C>T, NM_001170650.1:c.1338C>G, NR_164681.1:n.1703C>T, NR_164681.1:n.1703C>G, NM_001375328.1:c.1515C>T, NM_001375328.1:c.1515C>G, NM_001375333.1:c.1464C>T, NM_001375333.1:c.1464C>G, NM_001375332.1:c.558C>T, NM_001375332.1:c.558C>G, XM_011531045.3:c.1389C>T, XM_011531045.3:c.1389C>G, XM_011531045.2:c.1389C>T, XM_011531045.2:c.1389C>G, XM_011531045.1:c.1389C>T, XM_011531045.1:c.1389C>G, XM_047442537.1:c.1580C>T, XM_047442537.1:c.1580C>G, XM_047442542.1:c.609C>T, XM_047442542.1:c.609C>G, XP_047298493.1:p.Pro527Leu, XP_047298493.1:p.Pro527Arg

Select item 14791817396.

rs1479181739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65534690 (GRCh38)
X:64754570 (GRCh37)
Canonical SPDI:: NC_000023.11:65534689:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.65534690G>A, NC_000023.10:g.64754570G>A, NG_016369.1:g.5117C>T, NM_031206.7:c.26C>T, NM_031206.6:c.26C>T, NM_031206.5:c.26C>T, NM_031206.4:c.26C>T, NM_001170649.2:c.26C>T, NM_001170649.1:c.26C>T, NM_001170650.2:c.26C>T, NM_001170650.1:c.26C>T, NM_001375335.1:c.26C>T, NM_001375334.1:c.26C>T, NM_001375336.1:c.26C>T, NM_001375337.1:c.26C>T, NR_164681.1:n.98C>T, NM_001375328.1:c.26C>T, NM_001375333.1:c.26C>T, NM_001375330.1:c.26C>T, NM_001375331.1:c.26C>T, NM_001375332.1:c.-771C>T, NM_001375329.1:c.26C>T, XM_005262306.5:c.26C>T, XM_011531046.3:c.26C>T, XM_011531046.2:c.26C>T, XM_011531046.1:c.26C>T, XR_938412.3:n.98C>T, XR_938412.2:n.89C>T, XR_938412.1:n.102C>T, XM_011531045.3:c.26C>T, XM_011531045.2:c.26C>T, XM_011531045.1:c.26C>T, XM_047442538.1:c.26C>T, XM_047442541.1:c.26C>T, XM_047442539.1:c.26C>T, NM_001410733.1:c.26C>T, XM_047442540.1:c.26C>T, XR_007068201.1:n.98C>T, XM_047442537.1:c.26C>T, NP_112483.1:p.Pro9Leu, NP_001164120.1:p.Pro9Leu, NP_001164121.1:p.Pro9Leu, NP_001362264.1:p.Pro9Leu, NP_001362263.1:p.Pro9Leu, NP_001362265.1:p.Pro9Leu, NP_001362266.1:p.Pro9Leu, NP_001362257.1:p.Pro9Leu, NP_001362262.1:p.Pro9Leu, NP_001362259.1:p.Pro9Leu, NP_001362260.1:p.Pro9Leu, NP_001362258.1:p.Pro9Leu, XP_005262363.1:p.Pro9Leu, XP_011529348.1:p.Pro9Leu, XP_011529347.1:p.Pro9Leu, XP_047298494.1:p.Pro9Leu, XP_047298497.1:p.Pro9Leu, XP_047298495.1:p.Pro9Leu, XP_047298496.1:p.Pro9Leu, XP_047298493.1:p.Pro9Leu

Select item 14737200547.

rs1473720054 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: X:65518209 (GRCh38)
X:64738089 (GRCh37)
Canonical SPDI:: NC_000023.11:65518206:CTTCT:CT
Gene:: LAS1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.65518209_65518211del, NC_000023.10:g.64738089_64738091del, NG_016369.1:g.21598_21600del, NM_031206.7:c.1705_1707del, NM_031206.6:c.1705_1707del, NM_031206.5:c.1705_1707del, NM_031206.4:c.1705_1707del, NM_001170649.2:c.1654_1656del, NM_001170649.1:c.1654_1656del, NM_001170650.2:c.1528_1530del, NM_001170650.1:c.1528_1530del, NR_164681.1:n.1893_1895del, NM_001375328.1:c.1705_1707del, NM_001375333.1:c.1654_1656del, NM_001375332.1:c.748_750del, XM_011531045.3:c.1579_1581del, XM_011531045.2:c.1579_1581del, XM_011531045.1:c.1579_1581del, XM_047442537.1:c.*108_*110del, XM_047442542.1:c.799_801del, NP_112483.1:p.Lys569del, NP_001164120.1:p.Lys552del, NP_001164121.1:p.Lys510del, NP_001362257.1:p.Lys569del, NP_001362262.1:p.Lys552del, NP_001362261.1:p.Lys250del, XP_011529347.1:p.Lys527del, XP_047298498.1:p.Lys267del

Select item 14731234638.

rs1473123463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:65529766 (GRCh38)
X:64749646 (GRCh37)
Canonical SPDI:: NC_000023.11:65529765:C:T
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.65529766C>T, NC_000023.10:g.64749646C>T, NG_016369.1:g.10041G>A, NM_031206.7:c.627G>A, NM_031206.6:c.627G>A, NM_031206.5:c.627G>A, NM_031206.4:c.627G>A, NM_001170649.2:c.627G>A, NM_001170649.1:c.627G>A, NM_001170650.2:c.501G>A, NM_001170650.1:c.501G>A, NM_001375335.1:c.627G>A, NM_001375334.1:c.627G>A, NM_001375336.1:c.627G>A, NM_001375337.1:c.627G>A, NR_164681.1:n.699G>A, NM_001375328.1:c.627G>A, NM_001375333.1:c.627G>A, NM_001375330.1:c.627G>A, NM_001375331.1:c.627G>A, NM_001375332.1:c.-170G>A, NM_001375329.1:c.627G>A, XM_005262306.5:c.627G>A, XM_011531046.3:c.627G>A, XM_011531046.2:c.627G>A, XM_011531046.1:c.627G>A, XR_938412.3:n.699G>A, XR_938412.2:n.690G>A, XR_938412.1:n.703G>A, XM_011531045.3:c.501G>A, XM_011531045.2:c.501G>A, XM_011531045.1:c.501G>A, XM_047442538.1:c.627G>A, XM_047442541.1:c.627G>A, XM_047442539.1:c.627G>A, NM_001410733.1:c.627G>A, XM_047442540.1:c.627G>A, XR_007068201.1:n.699G>A, XM_047442537.1:c.627G>A, XM_047442542.1:c.-170G>A

Select item 14712335479.

rs1471233547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:65518246 (GRCh38)
X:64738126 (GRCh37)
Canonical SPDI:: NC_000023.11:65518245:C:T
Gene:: LAS1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.65518246C>T, NC_000023.10:g.64738126C>T, NG_016369.1:g.21561G>A, NM_031206.7:c.1668G>A, NM_031206.6:c.1668G>A, NM_031206.5:c.1668G>A, NM_031206.4:c.1668G>A, NM_001170649.2:c.1617G>A, NM_001170649.1:c.1617G>A, NM_001170650.2:c.1491G>A, NM_001170650.1:c.1491G>A, NR_164681.1:n.1856G>A, NM_001375328.1:c.1668G>A, NM_001375333.1:c.1617G>A, NM_001375332.1:c.711G>A, XM_011531045.3:c.1542G>A, XM_011531045.2:c.1542G>A, XM_011531045.1:c.1542G>A, XM_047442537.1:c.*71G>A, XM_047442542.1:c.762G>A

Select item 146811703010.

rs1468117030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65534587 (GRCh38)
X:64754467 (GRCh37)
Canonical SPDI:: NC_000023.11:65534586:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.65534587G>A, NC_000023.10:g.64754467G>A, NG_016369.1:g.5220C>T, NM_031206.7:c.129C>T, NM_031206.6:c.129C>T, NM_031206.5:c.129C>T, NM_031206.4:c.129C>T, NM_001170649.2:c.129C>T, NM_001170649.1:c.129C>T, NM_001170650.2:c.129C>T, NM_001170650.1:c.129C>T, NM_001375335.1:c.129C>T, NM_001375334.1:c.129C>T, NM_001375336.1:c.129C>T, NM_001375337.1:c.129C>T, NR_164681.1:n.201C>T, NM_001375328.1:c.129C>T, NM_001375333.1:c.129C>T, NM_001375330.1:c.129C>T, NM_001375331.1:c.129C>T, NM_001375332.1:c.-668C>T, NM_001375329.1:c.129C>T, XM_005262306.5:c.129C>T, XM_011531046.3:c.129C>T, XM_011531046.2:c.129C>T, XM_011531046.1:c.129C>T, XR_938412.3:n.201C>T, XR_938412.2:n.192C>T, XR_938412.1:n.205C>T, XM_011531045.3:c.129C>T, XM_011531045.2:c.129C>T, XM_011531045.1:c.129C>T, XM_047442538.1:c.129C>T, XM_047442541.1:c.129C>T, XM_047442539.1:c.129C>T, NM_001410733.1:c.129C>T, XM_047442540.1:c.129C>T, XR_007068201.1:n.201C>T, XM_047442537.1:c.129C>T

Select item 146800107811.

rs1468001078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65529845 (GRCh38)
X:64749725 (GRCh37)
Canonical SPDI:: NC_000023.11:65529844:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.65529845G>A, NC_000023.10:g.64749725G>A, NG_016369.1:g.9962C>T, NM_031206.7:c.548C>T, NM_031206.6:c.548C>T, NM_031206.5:c.548C>T, NM_031206.4:c.548C>T, NM_001170649.2:c.548C>T, NM_001170649.1:c.548C>T, NM_001170650.2:c.422C>T, NM_001170650.1:c.422C>T, NM_001375335.1:c.548C>T, NM_001375334.1:c.548C>T, NM_001375336.1:c.548C>T, NM_001375337.1:c.548C>T, NR_164681.1:n.620C>T, NM_001375328.1:c.548C>T, NM_001375333.1:c.548C>T, NM_001375330.1:c.548C>T, NM_001375331.1:c.548C>T, NM_001375332.1:c.-249C>T, NM_001375329.1:c.548C>T, XM_005262306.5:c.548C>T, XM_011531046.3:c.548C>T, XM_011531046.2:c.548C>T, XM_011531046.1:c.548C>T, XR_938412.3:n.620C>T, XR_938412.2:n.611C>T, XR_938412.1:n.624C>T, XM_011531045.3:c.422C>T, XM_011531045.2:c.422C>T, XM_011531045.1:c.422C>T, XM_047442538.1:c.548C>T, XM_047442541.1:c.548C>T, XM_047442539.1:c.548C>T, NM_001410733.1:c.548C>T, XM_047442540.1:c.548C>T, XR_007068201.1:n.620C>T, XM_047442537.1:c.548C>T, XM_047442542.1:c.-249C>T, NP_112483.1:p.Thr183Ile, NP_001164120.1:p.Thr183Ile, NP_001164121.1:p.Thr141Ile, NP_001362264.1:p.Thr183Ile, NP_001362263.1:p.Thr183Ile, NP_001362265.1:p.Thr183Ile, NP_001362266.1:p.Thr183Ile, NP_001362257.1:p.Thr183Ile, NP_001362262.1:p.Thr183Ile, NP_001362259.1:p.Thr183Ile, NP_001362260.1:p.Thr183Ile, NP_001362258.1:p.Thr183Ile, XP_005262363.1:p.Thr183Ile, XP_011529348.1:p.Thr183Ile, XP_011529347.1:p.Thr141Ile, XP_047298494.1:p.Thr183Ile, XP_047298497.1:p.Thr183Ile, XP_047298495.1:p.Thr183Ile, XP_047298496.1:p.Thr183Ile, XP_047298493.1:p.Thr183Ile

Select item 146251199312.

rs1462511993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65518081 (GRCh38)
X:64737961 (GRCh37)
Canonical SPDI:: NC_000023.11:65518080:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.65518081G>A, NC_000023.10:g.64737961G>A, NG_016369.1:g.21726C>T, NM_031206.7:c.1833C>T, NM_031206.6:c.1833C>T, NM_031206.5:c.1833C>T, NM_031206.4:c.1833C>T, NM_001170649.2:c.1782C>T, NM_001170649.1:c.1782C>T, NM_001170650.2:c.1656C>T, NM_001170650.1:c.1656C>T, NR_164681.1:n.2021C>T, NM_001375328.1:c.1833C>T, NM_001375333.1:c.1782C>T, NM_001375332.1:c.876C>T, XM_011531045.3:c.1707C>T, XM_011531045.2:c.1707C>T, XM_011531045.1:c.1707C>T, XM_047442542.1:c.927C>T

Select item 145930597113.

rs1459305971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:65518327 (GRCh38)
X:64738207 (GRCh37)
Canonical SPDI:: NC_000023.11:65518326:T:C,NC_000023.11:65518326:T:G
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.65518327T>C, NC_000023.11:g.65518327T>G, NC_000023.10:g.64738207T>C, NC_000023.10:g.64738207T>G, NG_016369.1:g.21480A>G, NG_016369.1:g.21480A>C, NM_031206.7:c.1587A>G, NM_031206.7:c.1587A>C, NM_031206.6:c.1587A>G, NM_031206.6:c.1587A>C, NM_031206.5:c.1587A>G, NM_031206.5:c.1587A>C, NM_031206.4:c.1587A>G, NM_031206.4:c.1587A>C, NM_001170649.2:c.1536A>G, NM_001170649.2:c.1536A>C, NM_001170649.1:c.1536A>G, NM_001170649.1:c.1536A>C, NM_001170650.2:c.1410A>G, NM_001170650.2:c.1410A>C, NM_001170650.1:c.1410A>G, NM_001170650.1:c.1410A>C, NR_164681.1:n.1775A>G, NR_164681.1:n.1775A>C, NM_001375328.1:c.1587A>G, NM_001375328.1:c.1587A>C, NM_001375333.1:c.1536A>G, NM_001375333.1:c.1536A>C, NM_001375332.1:c.630A>G, NM_001375332.1:c.630A>C, XM_011531045.3:c.1461A>G, XM_011531045.3:c.1461A>C, XM_011531045.2:c.1461A>G, XM_011531045.2:c.1461A>C, XM_011531045.1:c.1461A>G, XM_011531045.1:c.1461A>C, XM_047442537.1:c.1652A>G, XM_047442537.1:c.1652A>C, XM_047442542.1:c.681A>G, XM_047442542.1:c.681A>C, XP_047298493.1:p.His551Arg, XP_047298493.1:p.His551Pro

Select item 145839885714.

rs1458398857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:65514958 (GRCh38)
X:64734838 (GRCh37)
Canonical SPDI:: NC_000023.11:65514957:T:C
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.65514958T>C, NC_000023.10:g.64734838T>C, NG_016369.1:g.24849A>G, NM_031206.7:c.1943A>G, NM_031206.6:c.1943A>G, NM_031206.5:c.1943A>G, NM_031206.4:c.1943A>G, NM_001170649.2:c.1892A>G, NM_001170649.1:c.1892A>G, NM_001170650.2:c.1766A>G, NM_001170650.1:c.1766A>G, NR_164681.1:n.2131A>G, NM_001375328.1:c.1940A>G, NM_001375333.1:c.1889A>G, NM_001375332.1:c.986A>G, XM_011531045.3:c.1817A>G, XM_011531045.2:c.1817A>G, XM_011531045.1:c.1817A>G, XM_047442542.1:c.1037A>G, NP_112483.1:p.Asp648Gly, NP_001164120.1:p.Asp631Gly, NP_001164121.1:p.Asp589Gly, NP_001362257.1:p.Asp647Gly, NP_001362262.1:p.Asp630Gly, NP_001362261.1:p.Asp329Gly, XP_011529347.1:p.Asp606Gly, XP_047298498.1:p.Asp346Gly

Select item 145805990415.

rs1458059904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:65518152 (GRCh38)
X:64738032 (GRCh37)
Canonical SPDI:: NC_000023.11:65518151:G:C
Gene:: LAS1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.65518152G>C, NC_000023.10:g.64738032G>C, NG_016369.1:g.21655C>G, NM_031206.7:c.1762C>G, NM_031206.6:c.1762C>G, NM_031206.5:c.1762C>G, NM_031206.4:c.1762C>G, NM_001170649.2:c.1711C>G, NM_001170649.1:c.1711C>G, NM_001170650.2:c.1585C>G, NM_001170650.1:c.1585C>G, NR_164681.1:n.1950C>G, NM_001375328.1:c.1762C>G, NM_001375333.1:c.1711C>G, NM_001375332.1:c.805C>G, XM_011531045.3:c.1636C>G, XM_011531045.2:c.1636C>G, XM_011531045.1:c.1636C>G, XM_047442537.1:c.*165C>G, XM_047442542.1:c.856C>G, NP_112483.1:p.Gln588Glu, NP_001164120.1:p.Gln571Glu, NP_001164121.1:p.Gln529Glu, NP_001362257.1:p.Gln588Glu, NP_001362262.1:p.Gln571Glu, NP_001362261.1:p.Gln269Glu, XP_011529347.1:p.Gln546Glu, XP_047298498.1:p.Gln286Glu

Select item 145024934116.

rs1450249341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65523693 (GRCh38)
X:64743573 (GRCh37)
Canonical SPDI:: NC_000023.11:65523692:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000023.11:g.65523693G>A, NC_000023.10:g.64743573G>A, NG_016369.1:g.16114C>T, NM_031206.7:c.1315C>T, NM_031206.6:c.1315C>T, NM_031206.5:c.1315C>T, NM_031206.4:c.1315C>T, NM_001170649.2:c.1264C>T, NM_001170649.1:c.1264C>T, NM_001170650.2:c.1138C>T, NM_001170650.1:c.1138C>T, NM_001375335.1:c.1315C>T, NM_001375334.1:c.1315C>T, NM_001375336.1:c.1264C>T, NM_001375337.1:c.1264C>T, NR_164681.1:n.1387C>T, NM_001375328.1:c.1315C>T, NM_001375333.1:c.1264C>T, NM_001375330.1:c.1315C>T, NM_001375331.1:c.1264C>T, NM_001375332.1:c.358C>T, NM_001375329.1:c.1315C>T, XM_005262306.5:c.1315C>T, XM_011531046.3:c.1315C>T, XM_011531046.2:c.1315C>T, XM_011531046.1:c.1315C>T, XR_938412.3:n.1387C>T, XR_938412.2:n.1378C>T, XR_938412.1:n.1391C>T, XM_011531045.3:c.1189C>T, XM_011531045.2:c.1189C>T, XM_011531045.1:c.1189C>T, XM_047442538.1:c.1315C>T, XM_047442541.1:c.1264C>T, XM_047442539.1:c.1264C>T, NM_001410733.1:c.1315C>T, XM_047442540.1:c.1264C>T, XR_007068201.1:n.1387C>T, XM_047442537.1:c.1264C>T, XM_047442542.1:c.409C>T, NP_112483.1:p.Arg439Ter, NP_001164120.1:p.Arg422Ter, NP_001164121.1:p.Arg380Ter, NP_001362264.1:p.Arg439Ter, NP_001362263.1:p.Arg439Ter, NP_001362265.1:p.Arg422Ter, NP_001362266.1:p.Arg422Ter, NP_001362257.1:p.Arg439Ter, NP_001362262.1:p.Arg422Ter, NP_001362259.1:p.Arg439Ter, NP_001362260.1:p.Arg422Ter, NP_001362261.1:p.Arg120Ter, NP_001362258.1:p.Arg439Ter, XP_005262363.1:p.Arg439Ter, XP_011529348.1:p.Arg439Ter, XP_011529347.1:p.Arg397Ter, XP_047298494.1:p.Arg439Ter, XP_047298497.1:p.Arg422Ter, XP_047298495.1:p.Arg422Ter, XP_047298496.1:p.Arg422Ter, XP_047298493.1:p.Arg422Ter, XP_047298498.1:p.Arg137Ter

Select item 144789540017.

rs1447895400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:65517999 (GRCh38)
X:64737879 (GRCh37)
Canonical SPDI:: NC_000023.11:65517998:G:C
Gene:: LAS1L (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.65517999G>C, NC_000023.10:g.64737879G>C, NG_016369.1:g.21808C>G, NM_031206.7:c.1915C>G, NM_031206.6:c.1915C>G, NM_031206.5:c.1915C>G, NM_031206.4:c.1915C>G, NM_001170649.2:c.1864C>G, NM_001170649.1:c.1864C>G, NM_001170650.2:c.1738C>G, NM_001170650.1:c.1738C>G, NR_164681.1:n.2103C>G, NM_001375328.1:c.1915C>G, NM_001375333.1:c.1864C>G, NM_001375332.1:c.958C>G, XM_011531045.3:c.1789C>G, XM_011531045.2:c.1789C>G, XM_011531045.1:c.1789C>G, XM_047442542.1:c.1009C>G, NP_112483.1:p.Gln639Glu, NP_001164120.1:p.Gln622Glu, NP_001164121.1:p.Gln580Glu, NP_001362257.1:p.Gln639Glu, NP_001362262.1:p.Gln622Glu, NP_001362261.1:p.Gln320Glu, XP_011529347.1:p.Gln597Glu, XP_047298498.1:p.Gln337Glu

Select item 144378546818.

rs1443785468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:65534566 (GRCh38)
X:64754446 (GRCh37)
Canonical SPDI:: NC_000023.11:65534565:C:T
Gene:: LAS1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.65534566C>T, NC_000023.10:g.64754446C>T, NG_016369.1:g.5241G>A, NM_031206.7:c.150G>A, NM_031206.6:c.150G>A, NM_031206.5:c.150G>A, NM_031206.4:c.150G>A, NM_001170649.2:c.150G>A, NM_001170649.1:c.150G>A, NM_001170650.2:c.150G>A, NM_001170650.1:c.150G>A, NM_001375335.1:c.150G>A, NM_001375334.1:c.150G>A, NM_001375336.1:c.150G>A, NM_001375337.1:c.150G>A, NR_164681.1:n.222G>A, NM_001375328.1:c.150G>A, NM_001375333.1:c.150G>A, NM_001375330.1:c.150G>A, NM_001375331.1:c.150G>A, NM_001375332.1:c.-647G>A, NM_001375329.1:c.150G>A, XM_005262306.5:c.150G>A, XM_011531046.3:c.150G>A, XM_011531046.2:c.150G>A, XM_011531046.1:c.150G>A, XR_938412.3:n.222G>A, XR_938412.2:n.213G>A, XR_938412.1:n.226G>A, XM_011531045.3:c.150G>A, XM_011531045.2:c.150G>A, XM_011531045.1:c.150G>A, XM_047442538.1:c.150G>A, XM_047442541.1:c.150G>A, XM_047442539.1:c.150G>A, NM_001410733.1:c.150G>A, XM_047442540.1:c.150G>A, XR_007068201.1:n.222G>A, XM_047442537.1:c.150G>A

Select item 144031720619.

rs1440317206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65512799 (GRCh38)
X:64732679 (GRCh37)
Canonical SPDI:: NC_000023.11:65512798:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.65512799G>A, NC_000023.10:g.64732679G>A, NG_016369.1:g.27008C>T, NM_031206.7:c.2181C>T, NM_031206.6:c.2181C>T, NM_031206.5:c.2181C>T, NM_031206.4:c.2181C>T, NM_001170649.2:c.2130C>T, NM_001170649.1:c.2130C>T, NM_001170650.2:c.2004C>T, NM_001170650.1:c.2004C>T, NR_164681.1:n.2369C>T, NM_001375328.1:c.2178C>T, NM_001375333.1:c.2127C>T, NM_001375332.1:c.1224C>T, XM_011531045.3:c.2055C>T, XM_011531045.2:c.2055C>T, XM_011531045.1:c.2055C>T, XM_047442542.1:c.1275C>T

Select item 143846202220.

rs1438462022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65531412 (GRCh38)
X:64751292 (GRCh37)
Canonical SPDI:: NC_000023.11:65531411:G:A
Gene:: LAS1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.65531412G>A, NC_000023.10:g.64751292G>A, NG_016369.1:g.8395C>T, NM_031206.7:c.459C>T, NM_031206.6:c.459C>T, NM_031206.5:c.459C>T, NM_031206.4:c.459C>T, NM_001170649.2:c.459C>T, NM_001170649.1:c.459C>T, NM_001170650.2:c.333C>T, NM_001170650.1:c.333C>T, NM_001375335.1:c.459C>T, NM_001375334.1:c.459C>T, NM_001375336.1:c.459C>T, NM_001375337.1:c.459C>T, NR_164681.1:n.531C>T, NM_001375328.1:c.459C>T, NM_001375333.1:c.459C>T, NM_001375330.1:c.459C>T, NM_001375331.1:c.459C>T, NM_001375332.1:c.-338C>T, NM_001375329.1:c.459C>T, XM_005262306.5:c.459C>T, XM_011531046.3:c.459C>T, XM_011531046.2:c.459C>T, XM_011531046.1:c.459C>T, XR_938412.3:n.531C>T, XR_938412.2:n.522C>T, XR_938412.1:n.535C>T, XM_011531045.3:c.333C>T, XM_011531045.2:c.333C>T, XM_011531045.1:c.333C>T, XM_047442538.1:c.459C>T, XM_047442541.1:c.459C>T, XM_047442539.1:c.459C>T, NM_001410733.1:c.459C>T, XM_047442540.1:c.459C>T, XR_007068201.1:n.531C>T, XM_047442537.1:c.459C>T

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