SNP Links for Protein (Select 705044511) - SNP

Links from Protein

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Select item 14903268881.

rs1490326888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100893222 (GRCh38)
7:100490843 (GRCh37)
Canonical SPDI:: NC_000007.14:100893221:G:A
Gene:: ACHE (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000007.14:g.100893222G>A, NC_000007.13:g.100490843G>A, NG_007474.2:g.7912C>T, NM_000665.5:c.1011C>T, NM_000665.4:c.1011C>T, NM_000665.3:c.1011C>T, NM_001302621.3:c.1011C>T, NM_001302621.2:c.1011C>T, NM_001302621.1:c.1011C>T, NM_001367919.2:c.1209C>T, NM_001367919.1:c.1209C>T, NM_001302622.2:c.1011C>T, NM_001302622.1:c.1011C>T, NM_001282449.2:c.1011C>T, NM_001282449.1:c.1011C>T, NR_160408.2:n.1118C>T, NR_160408.1:n.1118C>T, NM_001367918.1:c.1212C>T, NM_001367915.1:c.1011C>T, NM_001367917.1:c.1011C>T, NR_160407.1:n.1476C>T, NM_015831.2:c.1011C>T

Select item 14865314842.

rs1486531484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100892373 (GRCh38)
7:100489994 (GRCh37)
Canonical SPDI:: NC_000007.14:100892372:T:C
Gene:: ACHE (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100892373T>C, NC_000007.13:g.100489994T>C, NG_007474.2:g.8761A>G, NM_000665.5:c.1514A>G, NM_000665.4:c.1514A>G, NM_000665.3:c.1514A>G, NM_001302621.3:c.1514A>G, NM_001302621.2:c.1514A>G, NM_001302621.1:c.1514A>G, NM_001367919.2:c.1712A>G, NM_001367919.1:c.1712A>G, NM_001302622.2:c.1514A>G, NM_001302622.1:c.1514A>G, NM_001282449.2:c.1250A>G, NM_001282449.1:c.1250A>G, NM_001367918.1:c.1715A>G, NM_001367915.1:c.1514A>G, NM_001367917.1:c.1514A>G, NM_015831.2:c.1514A>G, NP_000656.1:p.Gln505Arg, NP_001289550.1:p.Gln505Arg, NP_001354848.1:p.Gln571Arg, NP_001289551.1:p.Gln505Arg, NP_001269378.1:p.Gln417Arg, NP_001354847.1:p.Gln572Arg, NP_001354844.1:p.Gln505Arg, NP_001354846.1:p.Gln505Arg

Select item 14856540373.

rs1485654037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:100894037 (GRCh38)
7:100491658 (GRCh37)
Canonical SPDI:: NC_000007.14:100894036:T:A,NC_000007.14:100894036:T:G
Gene:: ACHE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100894037T>A, NC_000007.14:g.100894037T>G, NC_000007.13:g.100491658T>A, NC_000007.13:g.100491658T>G, NG_007474.2:g.7097A>T, NG_007474.2:g.7097A>C, NM_000665.5:c.196A>T, NM_000665.5:c.196A>C, NM_000665.4:c.196A>T, NM_000665.4:c.196A>C, NM_000665.3:c.196A>T, NM_000665.3:c.196A>C, NM_001302621.3:c.196A>T, NM_001302621.3:c.196A>C, NM_001302621.2:c.196A>T, NM_001302621.2:c.196A>C, NM_001302621.1:c.196A>T, NM_001302621.1:c.196A>C, NM_001367919.2:c.394A>T, NM_001367919.2:c.394A>C, NM_001367919.1:c.394A>T, NM_001367919.1:c.394A>C, NM_001302622.2:c.196A>T, NM_001302622.2:c.196A>C, NM_001302622.1:c.196A>T, NM_001302622.1:c.196A>C, NM_001282449.2:c.196A>T, NM_001282449.2:c.196A>C, NM_001282449.1:c.196A>T, NM_001282449.1:c.196A>C, NR_160408.2:n.303A>T, NR_160408.2:n.303A>C, NR_160408.1:n.303A>T, NR_160408.1:n.303A>C, NM_001367918.1:c.397A>T, NM_001367918.1:c.397A>C, NM_001367915.1:c.196A>T, NM_001367915.1:c.196A>C, NM_001367917.1:c.196A>T, NM_001367917.1:c.196A>C, NR_160407.1:n.661A>T, NR_160407.1:n.661A>C, NM_015831.2:c.196A>T, NM_015831.2:c.196A>C, NP_000656.1:p.Ile66Phe, NP_000656.1:p.Ile66Leu, NP_001289550.1:p.Ile66Phe, NP_001289550.1:p.Ile66Leu, NP_001354848.1:p.Ile132Phe, NP_001354848.1:p.Ile132Leu, NP_001289551.1:p.Ile66Phe, NP_001289551.1:p.Ile66Leu, NP_001269378.1:p.Ile66Phe, NP_001269378.1:p.Ile66Leu, NP_001354847.1:p.Ile133Phe, NP_001354847.1:p.Ile133Leu, NP_001354844.1:p.Ile66Phe, NP_001354844.1:p.Ile66Leu, NP_001354846.1:p.Ile66Phe, NP_001354846.1:p.Ile66Leu

Select item 14853378524.

rs1485337852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100891268 (GRCh38)
7:100488889 (GRCh37)
Canonical SPDI:: NC_000007.14:100891267:C:T
Gene:: ACHE (Varview), UFSP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100891268C>T, NC_000007.13:g.100488889C>T, NG_007474.2:g.9866G>A, NM_000665.5:c.1624G>A, NM_000665.4:c.1624G>A, NM_000665.3:c.1624G>A, NM_001302621.3:c.1624G>A, NM_001302621.2:c.1624G>A, NM_001302621.1:c.1624G>A, NM_001367919.2:c.1822G>A, NM_001367919.1:c.1822G>A, NM_001302622.2:c.1624G>A, NM_001302622.1:c.1624G>A, NM_001282449.2:c.1360G>A, NM_001282449.1:c.1360G>A, NR_160408.2:n.1246G>A, NR_160408.1:n.1246G>A, NM_001367918.1:c.1825G>A, NM_001367915.1:c.1624G>A, NM_001367917.1:c.1624G>A, NR_160407.1:n.1604G>A, NM_015831.2:c.1624G>A, NP_000656.1:p.Val542Ile, NP_001289550.1:p.Val542Ile, NP_001354848.1:p.Val608Ile, NP_001289551.1:p.Val542Ile, NP_001269378.1:p.Val454Ile, NP_001354847.1:p.Val609Ile, NP_001354844.1:p.Val542Ile, NP_001354846.1:p.Val542Ile

Select item 14831266795.

rs1483126679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100894061 (GRCh38)
7:100491682 (GRCh37)
Canonical SPDI:: NC_000007.14:100894060:C:T
Gene:: ACHE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.100894061C>T, NC_000007.13:g.100491682C>T, NG_007474.2:g.7073G>A, NM_000665.5:c.172G>A, NM_000665.4:c.172G>A, NM_000665.3:c.172G>A, NM_001302621.3:c.172G>A, NM_001302621.2:c.172G>A, NM_001302621.1:c.172G>A, NM_001367919.2:c.370G>A, NM_001367919.1:c.370G>A, NM_001302622.2:c.172G>A, NM_001302622.1:c.172G>A, NM_001282449.2:c.172G>A, NM_001282449.1:c.172G>A, NR_160408.2:n.279G>A, NR_160408.1:n.279G>A, NM_001367918.1:c.373G>A, NM_001367915.1:c.172G>A, NM_001367917.1:c.172G>A, NR_160407.1:n.637G>A, NM_015831.2:c.172G>A, NP_000656.1:p.Gly58Ser, NP_001289550.1:p.Gly58Ser, NP_001354848.1:p.Gly124Ser, NP_001289551.1:p.Gly58Ser, NP_001269378.1:p.Gly58Ser, NP_001354847.1:p.Gly125Ser, NP_001354844.1:p.Gly58Ser, NP_001354846.1:p.Gly58Ser

Select item 14828991916.

rs1482899191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:100893363 (GRCh38)
7:100490984 (GRCh37)
Canonical SPDI:: NC_000007.14:100893362:T:A
Gene:: ACHE (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100893363T>A, NC_000007.13:g.100490984T>A, NG_007474.2:g.7771A>T, NM_000665.5:c.870A>T, NM_000665.4:c.870A>T, NM_000665.3:c.870A>T, NM_001302621.3:c.870A>T, NM_001302621.2:c.870A>T, NM_001302621.1:c.870A>T, NM_001367919.2:c.1068A>T, NM_001367919.1:c.1068A>T, NM_001302622.2:c.870A>T, NM_001302622.1:c.870A>T, NM_001282449.2:c.870A>T, NM_001282449.1:c.870A>T, NR_160408.2:n.977A>T, NR_160408.1:n.977A>T, NM_001367918.1:c.1071A>T, NM_001367915.1:c.870A>T, NM_001367917.1:c.870A>T, NR_160407.1:n.1335A>T, NM_015831.2:c.870A>T

Select item 14810786407.

rs1481078640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100892366 (GRCh38)
7:100489987 (GRCh37)
Canonical SPDI:: NC_000007.14:100892365:C:T
Gene:: ACHE (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.100892366C>T, NC_000007.13:g.100489987C>T, NG_007474.2:g.8768G>A, NM_000665.5:c.1521G>A, NM_000665.4:c.1521G>A, NM_000665.3:c.1521G>A, NM_001302621.3:c.1521G>A, NM_001302621.2:c.1521G>A, NM_001302621.1:c.1521G>A, NM_001367919.2:c.1719G>A, NM_001367919.1:c.1719G>A, NM_001302622.2:c.1521G>A, NM_001302622.1:c.1521G>A, NM_001282449.2:c.1257G>A, NM_001282449.1:c.1257G>A, NM_001367918.1:c.1722G>A, NM_001367915.1:c.1521G>A, NM_001367917.1:c.1521G>A, NM_015831.2:c.1521G>A

Select item 14804210388.

rs1480421038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:100893383 (GRCh38)
7:100491004 (GRCh37)
Canonical SPDI:: NC_000007.14:100893382:G:A,NC_000007.14:100893382:G:T
Gene:: ACHE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000106/3 (TOMMO)
HGVS:: NC_000007.14:g.100893383G>A, NC_000007.14:g.100893383G>T, NC_000007.13:g.100491004G>A, NC_000007.13:g.100491004G>T, NG_007474.2:g.7751C>T, NG_007474.2:g.7751C>A, NM_000665.5:c.850C>T, NM_000665.5:c.850C>A, NM_000665.4:c.850C>T, NM_000665.4:c.850C>A, NM_000665.3:c.850C>T, NM_000665.3:c.850C>A, NM_001302621.3:c.850C>T, NM_001302621.3:c.850C>A, NM_001302621.2:c.850C>T, NM_001302621.2:c.850C>A, NM_001302621.1:c.850C>T, NM_001302621.1:c.850C>A, NM_001367919.2:c.1048C>T, NM_001367919.2:c.1048C>A, NM_001367919.1:c.1048C>T, NM_001367919.1:c.1048C>A, NM_001302622.2:c.850C>T, NM_001302622.2:c.850C>A, NM_001302622.1:c.850C>T, NM_001302622.1:c.850C>A, NM_001282449.2:c.850C>T, NM_001282449.2:c.850C>A, NM_001282449.1:c.850C>T, NM_001282449.1:c.850C>A, NR_160408.2:n.957C>T, NR_160408.2:n.957C>A, NR_160408.1:n.957C>T, NR_160408.1:n.957C>A, NM_001367918.1:c.1051C>T, NM_001367918.1:c.1051C>A, NM_001367915.1:c.850C>T, NM_001367915.1:c.850C>A, NM_001367917.1:c.850C>T, NM_001367917.1:c.850C>A, NR_160407.1:n.1315C>T, NR_160407.1:n.1315C>A, NM_015831.2:c.850C>T, NM_015831.2:c.850C>A, NP_000656.1:p.His284Tyr, NP_000656.1:p.His284Asn, NP_001289550.1:p.His284Tyr, NP_001289550.1:p.His284Asn, NP_001354848.1:p.His350Tyr, NP_001354848.1:p.His350Asn, NP_001289551.1:p.His284Tyr, NP_001289551.1:p.His284Asn, NP_001269378.1:p.His284Tyr, NP_001269378.1:p.His284Asn, NP_001354847.1:p.His351Tyr, NP_001354847.1:p.His351Asn, NP_001354844.1:p.His284Tyr, NP_001354844.1:p.His284Asn, NP_001354846.1:p.His284Tyr, NP_001354846.1:p.His284Asn

Select item 14799792869.

rs1479979286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:100893327 (GRCh38)
7:100490948 (GRCh37)
Canonical SPDI:: NC_000007.14:100893326:G:A,NC_000007.14:100893326:G:C
Gene:: ACHE (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.100893327G>A, NC_000007.14:g.100893327G>C, NC_000007.13:g.100490948G>A, NC_000007.13:g.100490948G>C, NG_007474.2:g.7807C>T, NG_007474.2:g.7807C>G, NM_000665.5:c.906C>T, NM_000665.5:c.906C>G, NM_000665.4:c.906C>T, NM_000665.4:c.906C>G, NM_000665.3:c.906C>T, NM_000665.3:c.906C>G, NM_001302621.3:c.906C>T, NM_001302621.3:c.906C>G, NM_001302621.2:c.906C>T, NM_001302621.2:c.906C>G, NM_001302621.1:c.906C>T, NM_001302621.1:c.906C>G, NM_001367919.2:c.1104C>T, NM_001367919.2:c.1104C>G, NM_001367919.1:c.1104C>T, NM_001367919.1:c.1104C>G, NM_001302622.2:c.906C>T, NM_001302622.2:c.906C>G, NM_001302622.1:c.906C>T, NM_001302622.1:c.906C>G, NM_001282449.2:c.906C>T, NM_001282449.2:c.906C>G, NM_001282449.1:c.906C>T, NM_001282449.1:c.906C>G, NR_160408.2:n.1013C>T, NR_160408.2:n.1013C>G, NR_160408.1:n.1013C>T, NR_160408.1:n.1013C>G, NM_001367918.1:c.1107C>T, NM_001367918.1:c.1107C>G, NM_001367915.1:c.906C>T, NM_001367915.1:c.906C>G, NM_001367917.1:c.906C>T, NM_001367917.1:c.906C>G, NR_160407.1:n.1371C>T, NR_160407.1:n.1371C>G, NM_015831.2:c.906C>T, NM_015831.2:c.906C>G

Select item 147984808410.

rs1479848084 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100893947 (GRCh38)
7:100491568 (GRCh37)
Canonical SPDI:: NC_000007.14:100893946:A:G
Gene:: ACHE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100893947A>G, NC_000007.13:g.100491568A>G, NG_007474.2:g.7187T>C, NM_000665.5:c.286T>C, NM_000665.4:c.286T>C, NM_000665.3:c.286T>C, NM_001302621.3:c.286T>C, NM_001302621.2:c.286T>C, NM_001302621.1:c.286T>C, NM_001367919.2:c.484T>C, NM_001367919.1:c.484T>C, NM_001302622.2:c.286T>C, NM_001302622.1:c.286T>C, NM_001282449.2:c.286T>C, NM_001282449.1:c.286T>C, NR_160408.2:n.393T>C, NR_160408.1:n.393T>C, NM_001367918.1:c.487T>C, NM_001367915.1:c.286T>C, NM_001367917.1:c.286T>C, NR_160407.1:n.751T>C, NM_015831.2:c.286T>C, NP_000656.1:p.Phe96Leu, NP_001289550.1:p.Phe96Leu, NP_001354848.1:p.Phe162Leu, NP_001289551.1:p.Phe96Leu, NP_001269378.1:p.Phe96Leu, NP_001354847.1:p.Phe163Leu, NP_001354844.1:p.Phe96Leu, NP_001354846.1:p.Phe96Leu

Select item 147906869011.

rs1479068690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100890263 (GRCh38)
7:100487884 (GRCh37)
Canonical SPDI:: NC_000007.14:100890262:T:C
Gene:: ACHE (Varview), UFSP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100890263T>C, NC_000007.13:g.100487884T>C, NG_007474.2:g.10871A>G, NM_000665.5:c.1796A>G, NM_000665.4:c.1796A>G, NM_000665.3:c.1796A>G, NM_001302621.3:c.*695A>G, NM_001367919.2:c.1994A>G, NM_001367919.1:c.1994A>G, NM_001302622.2:c.1796A>G, NM_001302622.1:c.1796A>G, NM_001282449.2:c.1532A>G, NM_001282449.1:c.1532A>G, NR_160408.2:n.1418A>G, NR_160408.1:n.1418A>G, NM_001367918.1:c.1997A>G, NM_001367915.1:c.1796A>G, NM_001367917.1:c.1796A>G, NR_160407.1:n.1776A>G, NM_015831.2:c.*695A>G, NP_000656.1:p.Lys599Arg, NP_001354848.1:p.Lys665Arg, NP_001289551.1:p.Lys599Arg, NP_001269378.1:p.Lys511Arg, NP_001354847.1:p.Lys666Arg, NP_001354844.1:p.Lys599Arg, NP_001354846.1:p.Lys599Arg

Select item 147621189712.

rs1476211897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:100893529 (GRCh38)
7:100491150 (GRCh37)
Canonical SPDI:: NC_000007.14:100893528:G:C,NC_000007.14:100893528:G:T
Gene:: ACHE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.100893529G>C, NC_000007.14:g.100893529G>T, NC_000007.13:g.100491150G>C, NC_000007.13:g.100491150G>T, NG_007474.2:g.7605C>G, NG_007474.2:g.7605C>A, NM_000665.5:c.704C>G, NM_000665.5:c.704C>A, NM_000665.4:c.704C>G, NM_000665.4:c.704C>A, NM_000665.3:c.704C>G, NM_000665.3:c.704C>A, NM_001302621.3:c.704C>G, NM_001302621.3:c.704C>A, NM_001302621.2:c.704C>G, NM_001302621.2:c.704C>A, NM_001302621.1:c.704C>G, NM_001302621.1:c.704C>A, NM_001367919.2:c.902C>G, NM_001367919.2:c.902C>A, NM_001367919.1:c.902C>G, NM_001367919.1:c.902C>A, NM_001302622.2:c.704C>G, NM_001302622.2:c.704C>A, NM_001302622.1:c.704C>G, NM_001302622.1:c.704C>A, NM_001282449.2:c.704C>G, NM_001282449.2:c.704C>A, NM_001282449.1:c.704C>G, NM_001282449.1:c.704C>A, NR_160408.2:n.811C>G, NR_160408.2:n.811C>A, NR_160408.1:n.811C>G, NR_160408.1:n.811C>A, NM_001367918.1:c.905C>G, NM_001367918.1:c.905C>A, NM_001367915.1:c.704C>G, NM_001367915.1:c.704C>A, NM_001367917.1:c.704C>G, NM_001367917.1:c.704C>A, NR_160407.1:n.1169C>G, NR_160407.1:n.1169C>A, NM_015831.2:c.704C>G, NM_015831.2:c.704C>A, NP_000656.1:p.Ala235Gly, NP_000656.1:p.Ala235Glu, NP_001289550.1:p.Ala235Gly, NP_001289550.1:p.Ala235Glu, NP_001354848.1:p.Ala301Gly, NP_001354848.1:p.Ala301Glu, NP_001289551.1:p.Ala235Gly, NP_001289551.1:p.Ala235Glu, NP_001269378.1:p.Ala235Gly, NP_001269378.1:p.Ala235Glu, NP_001354847.1:p.Ala302Gly, NP_001354847.1:p.Ala302Glu, NP_001354844.1:p.Ala235Gly, NP_001354844.1:p.Ala235Glu, NP_001354846.1:p.Ala235Gly, NP_001354846.1:p.Ala235Glu

Select item 147579969213.

rs1475799692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:100891275 (GRCh38)
7:100488896 (GRCh37)
Canonical SPDI:: NC_000007.14:100891274:C:G
Gene:: ACHE (Varview), UFSP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100891275C>G, NC_000007.13:g.100488896C>G, NG_007474.2:g.9859G>C, NM_000665.5:c.1617G>C, NM_000665.4:c.1617G>C, NM_000665.3:c.1617G>C, NM_001302621.3:c.1617G>C, NM_001302621.2:c.1617G>C, NM_001302621.1:c.1617G>C, NM_001367919.2:c.1815G>C, NM_001367919.1:c.1815G>C, NM_001302622.2:c.1617G>C, NM_001302622.1:c.1617G>C, NM_001282449.2:c.1353G>C, NM_001282449.1:c.1353G>C, NR_160408.2:n.1239G>C, NR_160408.1:n.1239G>C, NM_001367918.1:c.1818G>C, NM_001367915.1:c.1617G>C, NM_001367917.1:c.1617G>C, NR_160407.1:n.1597G>C, NM_015831.2:c.1617G>C, NP_000656.1:p.Gln539His, NP_001289550.1:p.Gln539His, NP_001354848.1:p.Gln605His, NP_001289551.1:p.Gln539His, NP_001269378.1:p.Gln451His, NP_001354847.1:p.Gln606His, NP_001354844.1:p.Gln539His, NP_001354846.1:p.Gln539His

Select item 147352964914.

rs1473529649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100893614 (GRCh38)
7:100491235 (GRCh37)
Canonical SPDI:: NC_000007.14:100893613:G:C
Gene:: ACHE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100893614G>C, NC_000007.13:g.100491235G>C, NG_007474.2:g.7520C>G, NM_000665.5:c.619C>G, NM_000665.4:c.619C>G, NM_000665.3:c.619C>G, NM_001302621.3:c.619C>G, NM_001302621.2:c.619C>G, NM_001302621.1:c.619C>G, NM_001367919.2:c.817C>G, NM_001367919.1:c.817C>G, NM_001302622.2:c.619C>G, NM_001302622.1:c.619C>G, NM_001282449.2:c.619C>G, NM_001282449.1:c.619C>G, NR_160408.2:n.726C>G, NR_160408.1:n.726C>G, NM_001367918.1:c.820C>G, NM_001367915.1:c.619C>G, NM_001367917.1:c.619C>G, NR_160407.1:n.1084C>G, NM_015831.2:c.619C>G, NP_000656.1:p.Gln207Glu, NP_001289550.1:p.Gln207Glu, NP_001354848.1:p.Gln273Glu, NP_001289551.1:p.Gln207Glu, NP_001269378.1:p.Gln207Glu, NP_001354847.1:p.Gln274Glu, NP_001354844.1:p.Gln207Glu, NP_001354846.1:p.Gln207Glu

Select item 147289963215.

rs1472899632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100893999 (GRCh38)
7:100491620 (GRCh37)
Canonical SPDI:: NC_000007.14:100893998:A:G
Gene:: ACHE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.100893999A>G, NC_000007.13:g.100491620A>G, NG_007474.2:g.7135T>C, NM_000665.5:c.234T>C, NM_000665.4:c.234T>C, NM_000665.3:c.234T>C, NM_001302621.3:c.234T>C, NM_001302621.2:c.234T>C, NM_001302621.1:c.234T>C, NM_001367919.2:c.432T>C, NM_001367919.1:c.432T>C, NM_001302622.2:c.234T>C, NM_001302622.1:c.234T>C, NM_001282449.2:c.234T>C, NM_001282449.1:c.234T>C, NR_160408.2:n.341T>C, NR_160408.1:n.341T>C, NM_001367918.1:c.435T>C, NM_001367915.1:c.234T>C, NM_001367917.1:c.234T>C, NR_160407.1:n.699T>C, NM_015831.2:c.234T>C

Select item 147161193716.

rs1471611937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100893619 (GRCh38)
7:100491240 (GRCh37)
Canonical SPDI:: NC_000007.14:100893618:A:C
Gene:: ACHE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100893619A>C, NC_000007.13:g.100491240A>C, NG_007474.2:g.7515T>G, NM_000665.5:c.614T>G, NM_000665.4:c.614T>G, NM_000665.3:c.614T>G, NM_001302621.3:c.614T>G, NM_001302621.2:c.614T>G, NM_001302621.1:c.614T>G, NM_001367919.2:c.812T>G, NM_001367919.1:c.812T>G, NM_001302622.2:c.614T>G, NM_001302622.1:c.614T>G, NM_001282449.2:c.614T>G, NM_001282449.1:c.614T>G, NR_160408.2:n.721T>G, NR_160408.1:n.721T>G, NM_001367918.1:c.815T>G, NM_001367915.1:c.614T>G, NM_001367917.1:c.614T>G, NR_160407.1:n.1079T>G, NM_015831.2:c.614T>G, NP_000656.1:p.Leu205Arg, NP_001289550.1:p.Leu205Arg, NP_001354848.1:p.Leu271Arg, NP_001289551.1:p.Leu205Arg, NP_001269378.1:p.Leu205Arg, NP_001354847.1:p.Leu272Arg, NP_001354844.1:p.Leu205Arg, NP_001354846.1:p.Leu205Arg

Select item 147003639017.

rs1470036390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:100891313 (GRCh38)
7:100488934 (GRCh37)
Canonical SPDI:: NC_000007.14:100891312:T:C,NC_000007.14:100891312:T:G
Gene:: ACHE (Varview), UFSP1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100891313T>C, NC_000007.14:g.100891313T>G, NC_000007.13:g.100488934T>C, NC_000007.13:g.100488934T>G, NG_007474.2:g.9821A>G, NG_007474.2:g.9821A>C, NM_000665.5:c.1579A>G, NM_000665.5:c.1579A>C, NM_000665.4:c.1579A>G, NM_000665.4:c.1579A>C, NM_000665.3:c.1579A>G, NM_000665.3:c.1579A>C, NM_001302621.3:c.1579A>G, NM_001302621.3:c.1579A>C, NM_001302621.2:c.1579A>G, NM_001302621.2:c.1579A>C, NM_001302621.1:c.1579A>G, NM_001302621.1:c.1579A>C, NM_001367919.2:c.1777A>G, NM_001367919.2:c.1777A>C, NM_001367919.1:c.1777A>G, NM_001367919.1:c.1777A>C, NM_001302622.2:c.1579A>G, NM_001302622.2:c.1579A>C, NM_001302622.1:c.1579A>G, NM_001302622.1:c.1579A>C, NM_001282449.2:c.1315A>G, NM_001282449.2:c.1315A>C, NM_001282449.1:c.1315A>G, NM_001282449.1:c.1315A>C, NR_160408.2:n.1201A>G, NR_160408.2:n.1201A>C, NR_160408.1:n.1201A>G, NR_160408.1:n.1201A>C, NM_001367918.1:c.1780A>G, NM_001367918.1:c.1780A>C, NM_001367915.1:c.1579A>G, NM_001367915.1:c.1579A>C, NM_001367917.1:c.1579A>G, NM_001367917.1:c.1579A>C, NR_160407.1:n.1559A>G, NR_160407.1:n.1559A>C, NM_015831.2:c.1579A>G, NM_015831.2:c.1579A>C, NP_000656.1:p.Lys527Glu, NP_000656.1:p.Lys527Gln, NP_001289550.1:p.Lys527Glu, NP_001289550.1:p.Lys527Gln, NP_001354848.1:p.Lys593Glu, NP_001354848.1:p.Lys593Gln, NP_001289551.1:p.Lys527Glu, NP_001289551.1:p.Lys527Gln, NP_001269378.1:p.Lys439Glu, NP_001269378.1:p.Lys439Gln, NP_001354847.1:p.Lys594Glu, NP_001354847.1:p.Lys594Gln, NP_001354844.1:p.Lys527Glu, NP_001354844.1:p.Lys527Gln, NP_001354846.1:p.Lys527Glu, NP_001354846.1:p.Lys527Gln

Select item 146647987618.

rs1466479876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100893466 (GRCh38)
7:100491087 (GRCh37)
Canonical SPDI:: NC_000007.14:100893465:G:A
Gene:: ACHE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000007.14:g.100893466G>A, NC_000007.13:g.100491087G>A, NG_007474.2:g.7668C>T, NM_000665.5:c.767C>T, NM_000665.4:c.767C>T, NM_000665.3:c.767C>T, NM_001302621.3:c.767C>T, NM_001302621.2:c.767C>T, NM_001302621.1:c.767C>T, NM_001367919.2:c.965C>T, NM_001367919.1:c.965C>T, NM_001302622.2:c.767C>T, NM_001302622.1:c.767C>T, NM_001282449.2:c.767C>T, NM_001282449.1:c.767C>T, NR_160408.2:n.874C>T, NR_160408.1:n.874C>T, NM_001367918.1:c.968C>T, NM_001367915.1:c.767C>T, NM_001367917.1:c.767C>T, NR_160407.1:n.1232C>T, NM_015831.2:c.767C>T, NP_000656.1:p.Ala256Val, NP_001289550.1:p.Ala256Val, NP_001354848.1:p.Ala322Val, NP_001289551.1:p.Ala256Val, NP_001269378.1:p.Ala256Val, NP_001354847.1:p.Ala323Val, NP_001354844.1:p.Ala256Val, NP_001354846.1:p.Ala256Val

Select item 146550674419.

rs1465506744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100893914 (GRCh38)
7:100491535 (GRCh37)
Canonical SPDI:: NC_000007.14:100893913:G:A
Gene:: ACHE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100893914G>A, NC_000007.13:g.100491535G>A, NG_007474.2:g.7220C>T, NM_000665.5:c.319C>T, NM_000665.4:c.319C>T, NM_000665.3:c.319C>T, NM_001302621.3:c.319C>T, NM_001302621.2:c.319C>T, NM_001302621.1:c.319C>T, NM_001367919.2:c.517C>T, NM_001367919.1:c.517C>T, NM_001302622.2:c.319C>T, NM_001302622.1:c.319C>T, NM_001282449.2:c.319C>T, NM_001282449.1:c.319C>T, NR_160408.2:n.426C>T, NR_160408.1:n.426C>T, NM_001367918.1:c.520C>T, NM_001367915.1:c.319C>T, NM_001367917.1:c.319C>T, NR_160407.1:n.784C>T, NM_015831.2:c.319C>T

Select item 146069814820.

rs1460698148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:100891337 (GRCh38)
7:100488958 (GRCh37)
Canonical SPDI:: NC_000007.14:100891336:C:G
Gene:: ACHE (Varview), UFSP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100891337C>G, NC_000007.13:g.100488958C>G, NG_007474.2:g.9797G>C, NM_000665.5:c.1555G>C, NM_000665.4:c.1555G>C, NM_000665.3:c.1555G>C, NM_001302621.3:c.1555G>C, NM_001302621.2:c.1555G>C, NM_001302621.1:c.1555G>C, NM_001367919.2:c.1753G>C, NM_001367919.1:c.1753G>C, NM_001302622.2:c.1555G>C, NM_001302622.1:c.1555G>C, NM_001282449.2:c.1291G>C, NM_001282449.1:c.1291G>C, NR_160408.2:n.1177G>C, NR_160408.1:n.1177G>C, NM_001367918.1:c.1756G>C, NM_001367915.1:c.1555G>C, NM_001367917.1:c.1555G>C, NR_160407.1:n.1535G>C, NM_015831.2:c.1555G>C, NP_000656.1:p.Asp519His, NP_001289550.1:p.Asp519His, NP_001354848.1:p.Asp585His, NP_001289551.1:p.Asp519His, NP_001269378.1:p.Asp431His, NP_001354847.1:p.Asp586His, NP_001354844.1:p.Asp519His, NP_001354846.1:p.Asp519His

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