SNP Links for Protein (Select 89242141) - SNP

Links from Protein

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Select item 14894927761.

rs1489492776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:23516390 (GRCh38)
18:21096354 (GRCh37)
Canonical SPDI:: NC_000018.10:23516389:G:C
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23516390G>C, NC_000018.9:g.21096354G>C, NG_033119.1:g.17921G>C, NM_013326.5:c.620G>C, NM_013326.4:c.620G>C, NM_001318709.1:c.476G>C, NM_001318708.1:c.149G>C, NM_001318707.1:c.149G>C, NM_001276342.1:c.476G>C, NR_075076.1:n.684G>C, NR_075075.1:n.540G>C, XM_047437486.1:c.149G>C, XM_047437487.1:c.149G>C, XM_047437488.1:c.620G>C, NP_037458.3:p.Ser207Thr, NP_001305638.1:p.Ser159Thr, NP_001305637.1:p.Ser50Thr, NP_001305636.1:p.Ser50Thr, NP_001263271.1:p.Ser159Thr, XP_047293442.1:p.Ser50Thr, XP_047293443.1:p.Ser50Thr, XP_047293444.1:p.Ser207Thr

Select item 14875016412.

rs1487501641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:23527875 (GRCh38)
18:21107839 (GRCh37)
Canonical SPDI:: NC_000018.10:23527874:C:A,NC_000018.10:23527874:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000018.10:g.23527875C>A, NC_000018.10:g.23527875C>T, NC_000018.9:g.21107839C>A, NC_000018.9:g.21107839C>T, NG_033119.1:g.29406C>A, NG_033119.1:g.29406C>T, NM_013326.5:c.1270C>A, NM_013326.5:c.1270C>T, NM_013326.4:c.1270C>A, NM_013326.4:c.1270C>T, NM_001318709.1:c.1126C>A, NM_001318709.1:c.1126C>T, NM_001318708.1:c.799C>A, NM_001318708.1:c.799C>T, NM_001318707.1:c.799C>A, NM_001318707.1:c.799C>T, NM_001276342.1:c.1126C>A, NM_001276342.1:c.1126C>T, NR_075076.1:n.1334C>A, NR_075076.1:n.1334C>T, NR_075075.1:n.1190C>A, NR_075075.1:n.1190C>T, XM_047437486.1:c.799C>A, XM_047437486.1:c.799C>T, XM_047437487.1:c.799C>A, XM_047437487.1:c.799C>T, NP_037458.3:p.Leu424Met, NP_001305638.1:p.Leu376Met, NP_001305637.1:p.Leu267Met, NP_001305636.1:p.Leu267Met, NP_001263271.1:p.Leu376Met, XP_047293442.1:p.Leu267Met, XP_047293443.1:p.Leu267Met

Select item 14855366263.

rs1485536626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23530038 (GRCh38)
18:21110002 (GRCh37)
Canonical SPDI:: NC_000018.10:23530037:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.23530038A>G, NC_000018.9:g.21110002A>G, NG_012795.1:g.61580T>C, NG_033119.1:g.31569A>G, NM_013326.5:c.1505A>G, NM_013326.4:c.1505A>G, NM_001318709.1:c.1361A>G, NM_001318708.1:c.1034A>G, NM_001318707.1:c.1034A>G, NM_001276342.1:c.1361A>G, NR_075076.1:n.1569A>G, NR_075075.1:n.1425A>G, XM_047437486.1:c.1034A>G, XM_047437487.1:c.1034A>G, NP_037458.3:p.His502Arg, NP_001305638.1:p.His454Arg, NP_001305637.1:p.His345Arg, NP_001305636.1:p.His345Arg, NP_001263271.1:p.His454Arg, XP_047293442.1:p.His345Arg, XP_047293443.1:p.His345Arg

Select item 14837606954.

rs1483760695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23516422 (GRCh38)
18:21096386 (GRCh37)
Canonical SPDI:: NC_000018.10:23516421:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_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_000018.10:g.23516422A>G, NC_000018.9:g.21096386A>G, NG_033119.1:g.17953A>G, NM_013326.5:c.652A>G, NM_013326.4:c.652A>G, NM_001318709.1:c.508A>G, NM_001318708.1:c.181A>G, NM_001318707.1:c.181A>G, NM_001276342.1:c.508A>G, NR_075076.1:n.716A>G, NR_075075.1:n.572A>G, XM_047437486.1:c.181A>G, XM_047437487.1:c.181A>G, XM_047437488.1:c.652A>G, NP_037458.3:p.Ile218Val, NP_001305638.1:p.Ile170Val, NP_001305637.1:p.Ile61Val, NP_001305636.1:p.Ile61Val, NP_001263271.1:p.Ile170Val, XP_047293442.1:p.Ile61Val, XP_047293443.1:p.Ile61Val, XP_047293444.1:p.Ile218Val

Select item 14835711675.

rs1483571167 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:23531682 (GRCh38)
18:21111647 (GRCh37)
Canonical SPDI:: NC_000018.10:23531682:AA:AAA
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: frameshift_variant,terminator_codon_variant,intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23531684dup, NC_000018.9:g.21111648dup, NG_012795.1:g.59935dup, NM_000271.5:c.*519dup, NM_000271.4:c.*519dup, NG_033119.1:g.33215dup, NM_013326.5:c.1954dup, NM_013326.4:c.1954dup, NM_001318709.1:c.1810dup, NM_001318708.1:c.1359dup, NM_001318707.1:c.1483dup, NM_001276342.1:c.1686dup, XM_005258278.6:c.*519dup, XM_005258278.5:c.*519dup, XM_005258278.4:c.*519dup, XM_005258278.3:c.*519dup, XM_005258278.2:c.*519dup, XM_005258278.1:c.*519dup, NR_075076.1:n.1894dup, NR_075075.1:n.1874dup, XM_047437486.1:c.1483dup, XM_047437487.1:c.1483dup, NP_037458.3:p.Met652fs, NP_001305638.1:p.Met604fs, NP_001305636.1:p.Met495fs, XP_047293442.1:p.Met495fs, XP_047293443.1:p.Met495fs

Select item 14771682586.

rs1477168258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23519126 (GRCh38)
18:21099090 (GRCh37)
Canonical SPDI:: NC_000018.10:23519125:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23519126C>T, NC_000018.9:g.21099090C>T, NG_033119.1:g.20657C>T, NM_013326.5:c.801C>T, NM_013326.4:c.801C>T, NM_001318709.1:c.657C>T, NM_001318708.1:c.330C>T, NM_001318707.1:c.330C>T, NM_001276342.1:c.657C>T, NR_075076.1:n.865C>T, NR_075075.1:n.721C>T, XM_047437486.1:c.330C>T, XM_047437487.1:c.330C>T, XM_047437488.1:c.801C>T

Select item 14756984027.

rs1475698402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23529244 (GRCh38)
18:21109208 (GRCh37)
Canonical SPDI:: NC_000018.10:23529243:G:A
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23529244G>A, NC_000018.9:g.21109208G>A, NG_033119.1:g.30775G>A, NM_013326.5:c.1362G>A, NM_013326.4:c.1362G>A, NM_001318709.1:c.1218G>A, NM_001318708.1:c.891G>A, NM_001318707.1:c.891G>A, NM_001276342.1:c.1218G>A, XM_017025786.2:c.*443C>T, XM_017025786.1:c.*443C>T, XM_017025784.1:c.*443C>T, XM_017025785.1:c.*94C>T, XM_047437539.1:c.*94C>T, NR_075076.1:n.1426G>A, NR_075075.1:n.1282G>A, XM_047437486.1:c.891G>A, XM_047437487.1:c.891G>A, XM_047437488.1:c.1255G>A, XP_047293444.1:p.Ala419Thr

Select item 14737689978.

rs1473768997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23531695 (GRCh38)
18:21111659 (GRCh37)
Canonical SPDI:: NC_000018.10:23531694:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23531695A>G, NC_000018.9:g.21111659A>G, NG_012795.1:g.59923T>C, NM_000271.5:c.*507T>C, NM_000271.4:c.*507T>C, NG_033119.1:g.33226A>G, NM_013326.5:c.1965A>G, NM_013326.4:c.1965A>G, NM_001318709.1:c.1821A>G, NM_001318708.1:c.*11A>G, NM_001318707.1:c.1494A>G, NM_001276342.1:c.*11A>G, XM_005258278.6:c.*507T>C, XM_005258278.5:c.*507T>C, XM_005258278.4:c.*507T>C, XM_005258278.3:c.*507T>C, XM_005258278.2:c.*507T>C, XM_005258278.1:c.*507T>C, NR_075076.1:n.1905A>G, NR_075075.1:n.1885A>G, XM_047437486.1:c.1494A>G, XM_047437487.1:c.1494A>G

Select item 14698635149.

rs1469863514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:23526727 (GRCh38)
18:21106691 (GRCh37)
Canonical SPDI:: NC_000018.10:23526726:A:C,NC_000018.10:23526726:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23526727A>C, NC_000018.10:g.23526727A>G, NC_000018.9:g.21106691A>C, NC_000018.9:g.21106691A>G, NG_033119.1:g.28258A>C, NG_033119.1:g.28258A>G, NM_013326.5:c.1151A>C, NM_013326.5:c.1151A>G, NM_013326.4:c.1151A>C, NM_013326.4:c.1151A>G, NM_001318709.1:c.1007A>C, NM_001318709.1:c.1007A>G, NM_001318708.1:c.680A>C, NM_001318708.1:c.680A>G, NM_001318707.1:c.680A>C, NM_001318707.1:c.680A>G, NM_001276342.1:c.1007A>C, NM_001276342.1:c.1007A>G, NR_075076.1:n.1215A>C, NR_075076.1:n.1215A>G, NR_075075.1:n.1071A>C, NR_075075.1:n.1071A>G, XM_047437486.1:c.680A>C, XM_047437486.1:c.680A>G, XM_047437487.1:c.680A>C, XM_047437487.1:c.680A>G, XM_047437488.1:c.1151A>C, XM_047437488.1:c.1151A>G, NP_037458.3:p.Lys384Thr, NP_037458.3:p.Lys384Arg, NP_001305638.1:p.Lys336Thr, NP_001305638.1:p.Lys336Arg, NP_001305637.1:p.Lys227Thr, NP_001305637.1:p.Lys227Arg, NP_001305636.1:p.Lys227Thr, NP_001305636.1:p.Lys227Arg, NP_001263271.1:p.Lys336Thr, NP_001263271.1:p.Lys336Arg, XP_047293442.1:p.Lys227Thr, XP_047293442.1:p.Lys227Arg, XP_047293443.1:p.Lys227Thr, XP_047293443.1:p.Lys227Arg, XP_047293444.1:p.Lys384Thr, XP_047293444.1:p.Lys384Arg

Select item 146939464910.

rs1469394649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23518963 (GRCh38)
18:21098927 (GRCh37)
Canonical SPDI:: NC_000018.10:23518962:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23518963C>T, NC_000018.9:g.21098927C>T, NG_033119.1:g.20494C>T, NM_013326.5:c.727C>T, NM_013326.4:c.727C>T, NM_001318709.1:c.583C>T, NM_001318708.1:c.256C>T, NM_001318707.1:c.256C>T, NM_001276342.1:c.583C>T, NR_075076.1:n.791C>T, NR_075075.1:n.647C>T, XM_047437486.1:c.256C>T, XM_047437487.1:c.256C>T, XM_047437488.1:c.727C>T, NP_037458.3:p.Leu243Phe, NP_001305638.1:p.Leu195Phe, NP_001305637.1:p.Leu86Phe, NP_001305636.1:p.Leu86Phe, NP_001263271.1:p.Leu195Phe, XP_047293442.1:p.Leu86Phe, XP_047293443.1:p.Leu86Phe, XP_047293444.1:p.Leu243Phe

Select item 146753910211.

rs1467539102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23504388 (GRCh38)
18:21084352 (GRCh37)
Canonical SPDI:: NC_000018.10:23504387:T:C
Gene:: RMC1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23504388T>C, NC_000018.9:g.21084352T>C, NG_033119.1:g.5919T>C, NM_013326.5:c.120T>C, NM_013326.4:c.120T>C, NM_001318709.1:c.120T>C, NM_001318708.1:c.-267T>C, NM_001318707.1:c.-123T>C, NM_001276342.1:c.120T>C, NR_075076.1:n.269T>C, NR_075075.1:n.269T>C, XM_047437486.1:c.-267T>C, XM_047437488.1:c.120T>C

Select item 146738676412.

rs1467386764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 18:23530491 (GRCh38)
18:21110455 (GRCh37)
Canonical SPDI:: NC_000018.10:23530490:T:A,NC_000018.10:23530490:T:C
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23530491T>A, NC_000018.10:g.23530491T>C, NC_000018.9:g.21110455T>A, NC_000018.9:g.21110455T>C, NG_012795.1:g.61127A>T, NG_012795.1:g.61127A>G, NG_033119.1:g.32022T>A, NG_033119.1:g.32022T>C, NM_013326.5:c.1773T>A, NM_013326.5:c.1773T>C, NM_013326.4:c.1773T>A, NM_013326.4:c.1773T>C, NM_001318709.1:c.1629T>A, NM_001318709.1:c.1629T>C, NM_001318707.1:c.1302T>A, NM_001318707.1:c.1302T>C, NR_075075.1:n.1693T>A, NR_075075.1:n.1693T>C, XM_047437486.1:c.1302T>A, XM_047437486.1:c.1302T>C, XM_047437487.1:c.1302T>A, XM_047437487.1:c.1302T>C

Select item 146230756013.

rs1462307560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23519077 (GRCh38)
18:21099041 (GRCh37)
Canonical SPDI:: NC_000018.10:23519076:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000018.10:g.23519077C>T, NC_000018.9:g.21099041C>T, NG_033119.1:g.20608C>T, NM_013326.5:c.752C>T, NM_013326.4:c.752C>T, NM_001318709.1:c.608C>T, NM_001318708.1:c.281C>T, NM_001318707.1:c.281C>T, NM_001276342.1:c.608C>T, NR_075076.1:n.816C>T, NR_075075.1:n.672C>T, XM_047437486.1:c.281C>T, XM_047437487.1:c.281C>T, XM_047437488.1:c.752C>T, NP_037458.3:p.Ala251Val, NP_001305638.1:p.Ala203Val, NP_001305637.1:p.Ala94Val, NP_001305636.1:p.Ala94Val, NP_001263271.1:p.Ala203Val, XP_047293442.1:p.Ala94Val, XP_047293443.1:p.Ala94Val, XP_047293444.1:p.Ala251Val

Select item 146213715814.

rs1462137158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:23520296 (GRCh38)
18:21100260 (GRCh37)
Canonical SPDI:: NC_000018.10:23520295:A:G
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23520296A>G, NC_000018.9:g.21100260A>G, NG_033119.1:g.21827A>G, NM_013326.5:c.944A>G, NM_013326.4:c.944A>G, NM_001318709.1:c.800A>G, NM_001318708.1:c.473A>G, NM_001318707.1:c.473A>G, NM_001276342.1:c.800A>G, NR_075076.1:n.1008A>G, NR_075075.1:n.864A>G, XM_047437486.1:c.473A>G, XM_047437487.1:c.473A>G, XM_047437488.1:c.944A>G, NP_037458.3:p.Tyr315Cys, NP_001305638.1:p.Tyr267Cys, NP_001305637.1:p.Tyr158Cys, NP_001305636.1:p.Tyr158Cys, NP_001263271.1:p.Tyr267Cys, XP_047293442.1:p.Tyr158Cys, XP_047293443.1:p.Tyr158Cys, XP_047293444.1:p.Tyr315Cys

Select item 146211444315.

rs1462114443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:23529201 (GRCh38)
18:21109165 (GRCh37)
Canonical SPDI:: NC_000018.10:23529200:G:A
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.23529201G>A, NC_000018.9:g.21109165G>A, NG_033119.1:g.30732G>A, NM_013326.5:c.1319G>A, NM_013326.4:c.1319G>A, NM_001318709.1:c.1175G>A, NM_001318708.1:c.848G>A, NM_001318707.1:c.848G>A, NM_001276342.1:c.1175G>A, XM_017025786.2:c.*486C>T, XM_017025786.1:c.*486C>T, XM_017025784.1:c.*486C>T, XM_017025785.1:c.*137C>T, XM_047437539.1:c.*137C>T, NR_075076.1:n.1383G>A, NR_075075.1:n.1239G>A, XM_047437486.1:c.848G>A, XM_047437487.1:c.848G>A, XM_047437488.1:c.1212G>A, NP_037458.3:p.Arg440Gln, NP_001305638.1:p.Arg392Gln, NP_001305637.1:p.Arg283Gln, NP_001305636.1:p.Arg283Gln, NP_001263271.1:p.Arg392Gln, XP_047293442.1:p.Arg283Gln, XP_047293443.1:p.Arg283Gln

Select item 146197521416.

rs1461975214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:23529210 (GRCh38)
18:21109174 (GRCh37)
Canonical SPDI:: NC_000018.10:23529209:C:G,NC_000018.10:23529209:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000018.10:g.23529210C>G, NC_000018.10:g.23529210C>T, NC_000018.9:g.21109174C>G, NC_000018.9:g.21109174C>T, NG_033119.1:g.30741C>G, NG_033119.1:g.30741C>T, NM_013326.5:c.1328C>G, NM_013326.5:c.1328C>T, NM_013326.4:c.1328C>G, NM_013326.4:c.1328C>T, NM_001318709.1:c.1184C>G, NM_001318709.1:c.1184C>T, NM_001318708.1:c.857C>G, NM_001318708.1:c.857C>T, NM_001318707.1:c.857C>G, NM_001318707.1:c.857C>T, NM_001276342.1:c.1184C>G, NM_001276342.1:c.1184C>T, XM_017025786.2:c.*477G>C, XM_017025786.2:c.*477G>A, XM_017025786.1:c.*477G>C, XM_017025786.1:c.*477G>A, XM_017025784.1:c.*477G>C, XM_017025784.1:c.*477G>A, XM_017025785.1:c.*128G>C, XM_017025785.1:c.*128G>A, XM_047437539.1:c.*128G>C, XM_047437539.1:c.*128G>A, NR_075076.1:n.1392C>G, NR_075076.1:n.1392C>T, NR_075075.1:n.1248C>G, NR_075075.1:n.1248C>T, XM_047437486.1:c.857C>G, XM_047437486.1:c.857C>T, XM_047437487.1:c.857C>G, XM_047437487.1:c.857C>T, XM_047437488.1:c.1221C>G, XM_047437488.1:c.1221C>T, NP_037458.3:p.Pro443Arg, NP_037458.3:p.Pro443Leu, NP_001305638.1:p.Pro395Arg, NP_001305638.1:p.Pro395Leu, NP_001305637.1:p.Pro286Arg, NP_001305637.1:p.Pro286Leu, NP_001305636.1:p.Pro286Arg, NP_001305636.1:p.Pro286Leu, NP_001263271.1:p.Pro395Arg, NP_001263271.1:p.Pro395Leu, XP_047293442.1:p.Pro286Arg, XP_047293442.1:p.Pro286Leu, XP_047293443.1:p.Pro286Arg, XP_047293443.1:p.Pro286Leu

Select item 145890935517.

rs1458909355 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 18:23530265 (GRCh38)
18:21110229 (GRCh37)
Canonical SPDI:: NC_000018.10:23530260:TCCTCCT:TCCT
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TCCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23530262CCT[1], NC_000018.9:g.21110226CCT[1], NG_012795.1:g.61352GGA[1], NG_033119.1:g.31793CCT[1], NM_013326.5:c.1633CCT[1], NM_013326.4:c.1633CCT[1], NM_001318709.1:c.1489CCT[1], NM_001318708.1:c.1162CCT[1], NM_001318707.1:c.1162CCT[1], NM_001276342.1:c.1489CCT[1], NR_075076.1:n.1697CCT[1], NR_075075.1:n.1553CCT[1], XM_047437486.1:c.1162CCT[1], XM_047437487.1:c.1162CCT[1], NP_037458.3:p.Pro546del, NP_001305638.1:p.Pro498del, NP_001305637.1:p.Pro389del, NP_001305636.1:p.Pro389del, NP_001263271.1:p.Pro498del, XP_047293442.1:p.Pro389del, XP_047293443.1:p.Pro389del

Select item 145842225018.

rs1458422250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:23515959 (GRCh38)
18:21095923 (GRCh37)
Canonical SPDI:: NC_000018.10:23515958:C:T
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.23515959C>T, NC_000018.9:g.21095923C>T, NG_033119.1:g.17490C>T, NM_013326.5:c.512C>T, NM_013326.4:c.512C>T, NM_001318709.1:c.368C>T, NM_001318708.1:c.41C>T, NM_001318707.1:c.41C>T, NM_001276342.1:c.368C>T, NR_075076.1:n.576C>T, NR_075075.1:n.432C>T, XM_047437486.1:c.41C>T, XM_047437487.1:c.41C>T, XM_047437488.1:c.512C>T, NP_037458.3:p.Thr171Met, NP_001305638.1:p.Thr123Met, NP_001305637.1:p.Thr14Met, NP_001305636.1:p.Thr14Met, NP_001263271.1:p.Thr123Met, XP_047293442.1:p.Thr14Met, XP_047293443.1:p.Thr14Met, XP_047293444.1:p.Thr171Met

Select item 145680310119.

rs1456803101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:23530476 (GRCh38)
18:21110440 (GRCh37)
Canonical SPDI:: NC_000018.10:23530475:T:C
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.23530476T>C, NC_000018.9:g.21110440T>C, NG_012795.1:g.61142A>G, NG_033119.1:g.32007T>C, NM_013326.5:c.1758T>C, NM_013326.4:c.1758T>C, NM_001318709.1:c.1614T>C, NM_001318707.1:c.1287T>C, NR_075075.1:n.1678T>C, XM_047437486.1:c.1287T>C, XM_047437487.1:c.1287T>C

Select item 145446722020.

rs1454467220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:23518934 (GRCh38)
18:21098898 (GRCh37)
Canonical SPDI:: NC_000018.10:23518933:C:A
Gene:: NPC1 (Varview), RMC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.23518934C>A, NC_000018.9:g.21098898C>A, NG_033119.1:g.20465C>A, NM_013326.5:c.698C>A, NM_013326.4:c.698C>A, NM_001318709.1:c.554C>A, NM_001318708.1:c.227C>A, NM_001318707.1:c.227C>A, NM_001276342.1:c.554C>A, NR_075076.1:n.762C>A, NR_075075.1:n.618C>A, XM_047437486.1:c.227C>A, XM_047437487.1:c.227C>A, XM_047437488.1:c.698C>A, NP_037458.3:p.Thr233Asn, NP_001305638.1:p.Thr185Asn, NP_001305637.1:p.Thr76Asn, NP_001305636.1:p.Thr76Asn, NP_001263271.1:p.Thr185Asn, XP_047293442.1:p.Thr76Asn, XP_047293443.1:p.Thr76Asn, XP_047293444.1:p.Thr233Asn

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