SNP Links for Protein (Select 530426673) - SNP

Links from Protein

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Select item 14888142711.

rs1488814271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136404661 (GRCh38)
9:139299113 (GRCh37)
Canonical SPDI:: NC_000009.12:136404660:C:G
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_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_000009.12:g.136404661C>G, NC_000009.11:g.139299113C>G, NG_051233.1:g.560G>C, XM_005266050.5:c.1011G>C, XM_005266050.4:c.1011G>C, XM_005266050.3:c.1011G>C, XM_005266050.2:c.1011G>C, XM_005266050.1:c.1011G>C, NM_006643.4:c.969G>C, NM_006643.3:c.969G>C, XM_005266051.4:c.888G>C, XM_005266051.3:c.888G>C, XM_005266051.2:c.888G>C, XM_005266051.1:c.888G>C, XM_017014218.3:c.1185G>C, XM_017014218.2:c.1185G>C, XM_017014218.1:c.1185G>C, XM_011518157.3:c.939G>C, XM_011518157.2:c.939G>C, XM_011518157.1:c.939G>C, NM_001039707.2:c.1038G>C, NM_001039707.1:c.1038G>C, NM_001039708.2:c.819G>C, NM_001039708.1:c.819G>C, XM_047422655.1:c.942G>C, XM_047422656.1:c.861G>C, XM_047422657.1:c.792G>C

Select item 14859762622.

rs1485976262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:136407516 (GRCh38)
9:139301968 (GRCh37)
Canonical SPDI:: NC_000009.12:136407515:A:G,NC_000009.12:136407515:A:T
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00006/1 (TOMMO)
G=0.01506/44 (KOREAN)
HGVS:: NC_000009.12:g.136407516A>G, NC_000009.12:g.136407516A>T, NC_000009.11:g.139301968A>G, NC_000009.11:g.139301968A>T, NG_046789.1:g.1944A>G, NG_046789.1:g.1944A>T, XM_005266050.5:c.448T>C, XM_005266050.5:c.448T>A, XM_005266050.4:c.448T>C, XM_005266050.4:c.448T>A, XM_005266050.3:c.448T>C, XM_005266050.3:c.448T>A, XM_005266050.2:c.448T>C, XM_005266050.2:c.448T>A, XM_005266050.1:c.448T>C, XM_005266050.1:c.448T>A, NM_006643.4:c.379T>C, NM_006643.4:c.379T>A, NM_006643.3:c.379T>C, NM_006643.3:c.379T>A, XM_005266051.4:c.298T>C, XM_005266051.4:c.298T>A, XM_005266051.3:c.298T>C, XM_005266051.3:c.298T>A, XM_005266051.2:c.298T>C, XM_005266051.2:c.298T>A, XM_005266051.1:c.298T>C, XM_005266051.1:c.298T>A, XM_017014218.3:c.595T>C, XM_017014218.3:c.595T>A, XM_017014218.2:c.595T>C, XM_017014218.2:c.595T>A, XM_017014218.1:c.595T>C, XM_017014218.1:c.595T>A, XM_011518157.3:c.349T>C, XM_011518157.3:c.349T>A, XM_011518157.2:c.349T>C, XM_011518157.2:c.349T>A, XM_011518157.1:c.349T>C, XM_011518157.1:c.349T>A, NM_001039707.2:c.448T>C, NM_001039707.2:c.448T>A, NM_001039707.1:c.448T>C, NM_001039707.1:c.448T>A, NM_001039708.2:c.229T>C, NM_001039708.2:c.229T>A, NM_001039708.1:c.229T>C, NM_001039708.1:c.229T>A, XR_002956746.2:n.665T>C, XR_002956746.2:n.665T>A, XR_002956746.1:n.543T>C, XR_002956746.1:n.543T>A, XM_047422655.1:c.379T>C, XM_047422655.1:c.379T>A, XM_047422656.1:c.298T>C, XM_047422656.1:c.298T>A, XM_047422657.1:c.229T>C, XM_047422657.1:c.229T>A, XP_005266107.1:p.Ser150Pro, XP_005266107.1:p.Ser150Thr, NP_006634.3:p.Ser127Pro, NP_006634.3:p.Ser127Thr, XP_005266108.1:p.Ser100Pro, XP_005266108.1:p.Ser100Thr, XP_016869707.1:p.Ser199Pro, XP_016869707.1:p.Ser199Thr, XP_011516459.1:p.Ser117Pro, XP_011516459.1:p.Ser117Thr, NP_001034796.1:p.Ser150Pro, NP_001034796.1:p.Ser150Thr, NP_001034797.1:p.Ser77Pro, NP_001034797.1:p.Ser77Thr, XP_047278611.1:p.Ser127Pro, XP_047278611.1:p.Ser127Thr, XP_047278612.1:p.Ser100Pro, XP_047278612.1:p.Ser100Thr, XP_047278613.1:p.Ser77Pro, XP_047278613.1:p.Ser77Thr

Select item 14849341903.

rs1484934190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136405148 (GRCh38)
9:139299600 (GRCh37)
Canonical SPDI:: NC_000009.12:136405147:G:A
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136405148G>A, NC_000009.11:g.139299600G>A, NG_051233.1:g.73C>T, XM_005266050.5:c.948C>T, XM_005266050.4:c.948C>T, XM_005266050.3:c.948C>T, XM_005266050.2:c.948C>T, XM_005266050.1:c.948C>T, NM_006643.4:c.879C>T, NM_006643.3:c.879C>T, XM_005266051.4:c.798C>T, XM_005266051.3:c.798C>T, XM_005266051.2:c.798C>T, XM_005266051.1:c.798C>T, XM_017014218.3:c.1095C>T, XM_017014218.2:c.1095C>T, XM_017014218.1:c.1095C>T, XM_011518157.3:c.849C>T, XM_011518157.2:c.849C>T, XM_011518157.1:c.849C>T, NM_001039707.2:c.948C>T, NM_001039707.1:c.948C>T, NM_001039708.2:c.729C>T, NM_001039708.1:c.729C>T, XM_047422655.1:c.879C>T, XM_047422656.1:c.798C>T, XM_047422657.1:c.729C>T

Select item 14845660944.

rs1484566094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136407356 (GRCh38)
9:139301808 (GRCh37)
Canonical SPDI:: NC_000009.12:136407355:G:A
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136407356G>A, NC_000009.11:g.139301808G>A, NG_046789.1:g.1784G>A, XM_005266050.5:c.608C>T, XM_005266050.4:c.608C>T, XM_005266050.3:c.608C>T, XM_005266050.2:c.608C>T, XM_005266050.1:c.608C>T, NM_006643.4:c.539C>T, NM_006643.3:c.539C>T, XM_005266051.4:c.458C>T, XM_005266051.3:c.458C>T, XM_005266051.2:c.458C>T, XM_005266051.1:c.458C>T, XM_017014218.3:c.755C>T, XM_017014218.2:c.755C>T, XM_017014218.1:c.755C>T, XM_011518157.3:c.509C>T, XM_011518157.2:c.509C>T, XM_011518157.1:c.509C>T, NM_001039707.2:c.608C>T, NM_001039707.1:c.608C>T, NM_001039708.2:c.389C>T, NM_001039708.1:c.389C>T, XR_002956746.2:n.825C>T, XR_002956746.1:n.703C>T, XM_047422655.1:c.539C>T, XM_047422656.1:c.458C>T, XM_047422657.1:c.389C>T, XP_005266107.1:p.Ala203Val, NP_006634.3:p.Ala180Val, XP_005266108.1:p.Ala153Val, XP_016869707.1:p.Ala252Val, XP_011516459.1:p.Ala170Val, NP_001034796.1:p.Ala203Val, NP_001034797.1:p.Ala130Val, XP_047278611.1:p.Ala180Val, XP_047278612.1:p.Ala153Val, XP_047278613.1:p.Ala130Val

Select item 14807664965.

rs1480766496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136405189 (GRCh38)
9:139299641 (GRCh37)
Canonical SPDI:: NC_000009.12:136405188:C:T
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136405189C>T, NC_000009.11:g.139299641C>T, NG_051233.1:g.32G>A, XM_005266050.5:c.907G>A, XM_005266050.4:c.907G>A, XM_005266050.3:c.907G>A, XM_005266050.2:c.907G>A, XM_005266050.1:c.907G>A, NM_006643.4:c.838G>A, NM_006643.3:c.838G>A, XM_005266051.4:c.757G>A, XM_005266051.3:c.757G>A, XM_005266051.2:c.757G>A, XM_005266051.1:c.757G>A, XM_017014218.3:c.1054G>A, XM_017014218.2:c.1054G>A, XM_017014218.1:c.1054G>A, XM_011518157.3:c.808G>A, XM_011518157.2:c.808G>A, XM_011518157.1:c.808G>A, NM_001039707.2:c.907G>A, NM_001039707.1:c.907G>A, NM_001039708.2:c.688G>A, NM_001039708.1:c.688G>A, XM_047422655.1:c.838G>A, XM_047422656.1:c.757G>A, XM_047422657.1:c.688G>A, XP_005266107.1:p.Glu303Lys, NP_006634.3:p.Glu280Lys, XP_005266108.1:p.Glu253Lys, XP_016869707.1:p.Glu352Lys, XP_011516459.1:p.Glu270Lys, NP_001034796.1:p.Glu303Lys, NP_001034797.1:p.Glu230Lys, XP_047278611.1:p.Glu280Lys, XP_047278612.1:p.Glu253Lys, XP_047278613.1:p.Glu230Lys

Select item 14792892846.

rs1479289284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136410225 (GRCh38)
9:139304677 (GRCh37)
Canonical SPDI:: NC_000009.12:136410224:C:G
Gene:: ENTR1 (Varview), PMPCA (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136410225C>G, NC_000009.11:g.139304677C>G, NG_046789.1:g.4653C>G, XM_005266050.5:c.85G>C, XM_005266050.4:c.85G>C, XM_005266050.3:c.85G>C, XM_005266050.2:c.85G>C, XM_005266050.1:c.85G>C, NM_006643.4:c.85G>C, NM_006643.3:c.85G>C, XM_017014218.3:c.85G>C, XM_017014218.2:c.85G>C, XM_017014218.1:c.85G>C, NM_001039707.2:c.85G>C, NM_001039707.1:c.85G>C, XR_002956746.2:n.302G>C, XR_002956746.1:n.180G>C, XM_047422655.1:c.85G>C, XP_005266107.1:p.Glu29Gln, NP_006634.3:p.Glu29Gln, XP_016869707.1:p.Glu29Gln, NP_001034796.1:p.Glu29Gln, XP_047278611.1:p.Glu29Gln

Select item 14770026887.

rs1477002688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:136407414 (GRCh38)
9:139301866 (GRCh37)
Canonical SPDI:: NC_000009.12:136407413:A:G,NC_000009.12:136407413:A:T
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136407414A>G, NC_000009.12:g.136407414A>T, NC_000009.11:g.139301866A>G, NC_000009.11:g.139301866A>T, NG_046789.1:g.1842A>G, NG_046789.1:g.1842A>T, XM_005266050.5:c.550T>C, XM_005266050.5:c.550T>A, XM_005266050.4:c.550T>C, XM_005266050.4:c.550T>A, XM_005266050.3:c.550T>C, XM_005266050.3:c.550T>A, XM_005266050.2:c.550T>C, XM_005266050.2:c.550T>A, XM_005266050.1:c.550T>C, XM_005266050.1:c.550T>A, NM_006643.4:c.481T>C, NM_006643.4:c.481T>A, NM_006643.3:c.481T>C, NM_006643.3:c.481T>A, XM_005266051.4:c.400T>C, XM_005266051.4:c.400T>A, XM_005266051.3:c.400T>C, XM_005266051.3:c.400T>A, XM_005266051.2:c.400T>C, XM_005266051.2:c.400T>A, XM_005266051.1:c.400T>C, XM_005266051.1:c.400T>A, XM_017014218.3:c.697T>C, XM_017014218.3:c.697T>A, XM_017014218.2:c.697T>C, XM_017014218.2:c.697T>A, XM_017014218.1:c.697T>C, XM_017014218.1:c.697T>A, XM_011518157.3:c.451T>C, XM_011518157.3:c.451T>A, XM_011518157.2:c.451T>C, XM_011518157.2:c.451T>A, XM_011518157.1:c.451T>C, XM_011518157.1:c.451T>A, NM_001039707.2:c.550T>C, NM_001039707.2:c.550T>A, NM_001039707.1:c.550T>C, NM_001039707.1:c.550T>A, NM_001039708.2:c.331T>C, NM_001039708.2:c.331T>A, NM_001039708.1:c.331T>C, NM_001039708.1:c.331T>A, XR_002956746.2:n.767T>C, XR_002956746.2:n.767T>A, XR_002956746.1:n.645T>C, XR_002956746.1:n.645T>A, XM_047422655.1:c.481T>C, XM_047422655.1:c.481T>A, XM_047422656.1:c.400T>C, XM_047422656.1:c.400T>A, XM_047422657.1:c.331T>C, XM_047422657.1:c.331T>A, XP_005266107.1:p.Trp184Arg, XP_005266107.1:p.Trp184Arg, NP_006634.3:p.Trp161Arg, NP_006634.3:p.Trp161Arg, XP_005266108.1:p.Trp134Arg, XP_005266108.1:p.Trp134Arg, XP_016869707.1:p.Trp233Arg, XP_016869707.1:p.Trp233Arg, XP_011516459.1:p.Trp151Arg, XP_011516459.1:p.Trp151Arg, NP_001034796.1:p.Trp184Arg, NP_001034796.1:p.Trp184Arg, NP_001034797.1:p.Trp111Arg, NP_001034797.1:p.Trp111Arg, XP_047278611.1:p.Trp161Arg, XP_047278611.1:p.Trp161Arg, XP_047278612.1:p.Trp134Arg, XP_047278612.1:p.Trp134Arg, XP_047278613.1:p.Trp111Arg, XP_047278613.1:p.Trp111Arg

Select item 14753504148.

rs1475350414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136402887 (GRCh38)
9:139297339 (GRCh37)
Canonical SPDI:: NC_000009.12:136402886:C:T
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136402887C>T, NC_000009.11:g.139297339C>T, NG_051233.1:g.2334G>A, XM_005266050.5:c.1182G>A, XM_005266050.4:c.1182G>A, XM_005266050.3:c.1182G>A, XM_005266050.2:c.1182G>A, XM_005266050.1:c.1182G>A, NM_006643.4:c.1140G>A, NM_006643.3:c.1140G>A, XM_005266051.4:c.1059G>A, XM_005266051.3:c.1059G>A, XM_005266051.2:c.1059G>A, XM_005266051.1:c.1059G>A, XM_017014218.3:c.1356G>A, XM_017014218.2:c.1356G>A, XM_017014218.1:c.1356G>A, XM_011518157.3:c.1110G>A, XM_011518157.2:c.1110G>A, XM_011518157.1:c.1110G>A, NM_001039707.2:c.1209G>A, NM_001039707.1:c.1209G>A, NM_001039708.2:c.990G>A, NM_001039708.1:c.990G>A, XM_047422655.1:c.1113G>A, XM_047422656.1:c.1032G>A, XM_047422657.1:c.963G>A

Select item 14739022789.

rs1473902278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136405156 (GRCh38)
9:139299608 (GRCh37)
Canonical SPDI:: NC_000009.12:136405155:C:T
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136405156C>T, NC_000009.11:g.139299608C>T, NG_051233.1:g.65G>A, XM_005266050.5:c.940G>A, XM_005266050.4:c.940G>A, XM_005266050.3:c.940G>A, XM_005266050.2:c.940G>A, XM_005266050.1:c.940G>A, NM_006643.4:c.871G>A, NM_006643.3:c.871G>A, XM_005266051.4:c.790G>A, XM_005266051.3:c.790G>A, XM_005266051.2:c.790G>A, XM_005266051.1:c.790G>A, XM_017014218.3:c.1087G>A, XM_017014218.2:c.1087G>A, XM_017014218.1:c.1087G>A, XM_011518157.3:c.841G>A, XM_011518157.2:c.841G>A, XM_011518157.1:c.841G>A, NM_001039707.2:c.940G>A, NM_001039707.1:c.940G>A, NM_001039708.2:c.721G>A, NM_001039708.1:c.721G>A, XM_047422655.1:c.871G>A, XM_047422656.1:c.790G>A, XM_047422657.1:c.721G>A, XP_005266107.1:p.Glu314Lys, NP_006634.3:p.Glu291Lys, XP_005266108.1:p.Glu264Lys, XP_016869707.1:p.Glu363Lys, XP_011516459.1:p.Glu281Lys, NP_001034796.1:p.Glu314Lys, NP_001034797.1:p.Glu241Lys, XP_047278611.1:p.Glu291Lys, XP_047278612.1:p.Glu264Lys, XP_047278613.1:p.Glu241Lys

Select item 147251051710.

rs1472510517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:136407351 (GRCh38)
9:139301803 (GRCh37)
Canonical SPDI:: NC_000009.12:136407350:T:G
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136407351T>G, NC_000009.11:g.139301803T>G, NG_046789.1:g.1779T>G, XM_005266050.5:c.613A>C, XM_005266050.4:c.613A>C, XM_005266050.3:c.613A>C, XM_005266050.2:c.613A>C, XM_005266050.1:c.613A>C, NM_006643.4:c.544A>C, NM_006643.3:c.544A>C, XM_005266051.4:c.463A>C, XM_005266051.3:c.463A>C, XM_005266051.2:c.463A>C, XM_005266051.1:c.463A>C, XM_017014218.3:c.760A>C, XM_017014218.2:c.760A>C, XM_017014218.1:c.760A>C, XM_011518157.3:c.514A>C, XM_011518157.2:c.514A>C, XM_011518157.1:c.514A>C, NM_001039707.2:c.613A>C, NM_001039707.1:c.613A>C, NM_001039708.2:c.394A>C, NM_001039708.1:c.394A>C, XR_002956746.2:n.830A>C, XR_002956746.1:n.708A>C, XM_047422655.1:c.544A>C, XM_047422656.1:c.463A>C, XM_047422657.1:c.394A>C, XP_005266107.1:p.Thr205Pro, NP_006634.3:p.Thr182Pro, XP_005266108.1:p.Thr155Pro, XP_016869707.1:p.Thr254Pro, XP_011516459.1:p.Thr172Pro, NP_001034796.1:p.Thr205Pro, NP_001034797.1:p.Thr132Pro, XP_047278611.1:p.Thr182Pro, XP_047278612.1:p.Thr155Pro, XP_047278613.1:p.Thr132Pro

Select item 147195098011.

rs1471950980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136407272 (GRCh38)
9:139301724 (GRCh37)
Canonical SPDI:: NC_000009.12:136407271:G:A
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/5 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
HGVS:: NC_000009.12:g.136407272G>A, NC_000009.11:g.139301724G>A, NG_046789.1:g.1700G>A, XM_005266050.5:c.692C>T, XM_005266050.4:c.692C>T, XM_005266050.3:c.692C>T, XM_005266050.2:c.692C>T, XM_005266050.1:c.692C>T, NM_006643.4:c.623C>T, NM_006643.3:c.623C>T, XM_005266051.4:c.542C>T, XM_005266051.3:c.542C>T, XM_005266051.2:c.542C>T, XM_005266051.1:c.542C>T, XM_017014218.3:c.839C>T, XM_017014218.2:c.839C>T, XM_017014218.1:c.839C>T, XM_011518157.3:c.593C>T, XM_011518157.2:c.593C>T, XM_011518157.1:c.593C>T, NM_001039707.2:c.692C>T, NM_001039707.1:c.692C>T, NM_001039708.2:c.473C>T, NM_001039708.1:c.473C>T, XR_002956746.2:n.909C>T, XR_002956746.1:n.787C>T, XM_047422655.1:c.623C>T, XM_047422656.1:c.542C>T, XM_047422657.1:c.473C>T, XP_005266107.1:p.Ala231Val, NP_006634.3:p.Ala208Val, XP_005266108.1:p.Ala181Val, XP_016869707.1:p.Ala280Val, XP_011516459.1:p.Ala198Val, NP_001034796.1:p.Ala231Val, NP_001034797.1:p.Ala158Val, XP_047278611.1:p.Ala208Val, XP_047278612.1:p.Ala181Val, XP_047278613.1:p.Ala158Val

Select item 146884289712.

rs1468842897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136410354 (GRCh38)
9:139304806 (GRCh37)
Canonical SPDI:: NC_000009.12:136410353:C:T
Gene:: ENTR1 (Varview), PMPCA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136410354C>T, NC_000009.11:g.139304806C>T, NG_046789.1:g.4782C>T, XM_005266050.5:c.44G>A, XM_005266050.4:c.44G>A, XM_005266050.3:c.44G>A, XM_005266050.2:c.44G>A, XM_005266050.1:c.44G>A, NM_006643.4:c.44G>A, NM_006643.3:c.44G>A, XM_005266051.4:c.44G>A, XM_005266051.3:c.44G>A, XM_005266051.2:c.44G>A, XM_005266051.1:c.44G>A, XM_017014218.3:c.44G>A, XM_017014218.2:c.44G>A, XM_017014218.1:c.44G>A, NM_001039707.2:c.44G>A, NM_001039707.1:c.44G>A, NM_001039708.2:c.44G>A, NM_001039708.1:c.44G>A, XR_002956746.2:n.261G>A, XR_002956746.1:n.139G>A, XM_047422655.1:c.44G>A, XM_047422656.1:c.44G>A, XM_047422657.1:c.44G>A, XP_005266107.1:p.Arg15Gln, NP_006634.3:p.Arg15Gln, XP_005266108.1:p.Arg15Gln, XP_016869707.1:p.Arg15Gln, NP_001034796.1:p.Arg15Gln, NP_001034797.1:p.Arg15Gln, XP_047278611.1:p.Arg15Gln, XP_047278612.1:p.Arg15Gln, XP_047278613.1:p.Arg15Gln

Select item 146868896913.

rs1468688969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136410162 (GRCh38)
9:139304614 (GRCh37)
Canonical SPDI:: NC_000009.12:136410161:G:A,NC_000009.12:136410161:G:C
Gene:: ENTR1 (Varview), PMPCA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136410162G>A, NC_000009.12:g.136410162G>C, NC_000009.11:g.139304614G>A, NC_000009.11:g.139304614G>C, NG_046789.1:g.4590G>A, NG_046789.1:g.4590G>C, XM_005266050.5:c.148C>T, XM_005266050.5:c.148C>G, XM_005266050.4:c.148C>T, XM_005266050.4:c.148C>G, XM_005266050.3:c.148C>T, XM_005266050.3:c.148C>G, XM_005266050.2:c.148C>T, XM_005266050.2:c.148C>G, XM_005266050.1:c.148C>T, XM_005266050.1:c.148C>G, NM_006643.4:c.148C>T, NM_006643.4:c.148C>G, NM_006643.3:c.148C>T, NM_006643.3:c.148C>G, XM_017014218.3:c.148C>T, XM_017014218.3:c.148C>G, XM_017014218.2:c.148C>T, XM_017014218.2:c.148C>G, XM_017014218.1:c.148C>T, XM_017014218.1:c.148C>G, NM_001039707.2:c.148C>T, NM_001039707.2:c.148C>G, NM_001039707.1:c.148C>T, NM_001039707.1:c.148C>G, XR_002956746.2:n.365C>T, XR_002956746.2:n.365C>G, XR_002956746.1:n.243C>T, XR_002956746.1:n.243C>G, XM_047422655.1:c.148C>T, XM_047422655.1:c.148C>G, XP_005266107.1:p.Pro50Ser, XP_005266107.1:p.Pro50Ala, NP_006634.3:p.Pro50Ser, NP_006634.3:p.Pro50Ala, XP_016869707.1:p.Pro50Ser, XP_016869707.1:p.Pro50Ala, NP_001034796.1:p.Pro50Ser, NP_001034796.1:p.Pro50Ala, XP_047278611.1:p.Pro50Ser, XP_047278611.1:p.Pro50Ala

Select item 146852562714.

rs1468525627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136402880 (GRCh38)
9:139297332 (GRCh37)
Canonical SPDI:: NC_000009.12:136402879:C:A,NC_000009.12:136402879:C:T
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136402880C>A, NC_000009.12:g.136402880C>T, NC_000009.11:g.139297332C>A, NC_000009.11:g.139297332C>T, NG_051233.1:g.2341G>T, NG_051233.1:g.2341G>A, XM_005266050.5:c.1189G>T, XM_005266050.5:c.1189G>A, XM_005266050.4:c.1189G>T, XM_005266050.4:c.1189G>A, XM_005266050.3:c.1189G>T, XM_005266050.3:c.1189G>A, XM_005266050.2:c.1189G>T, XM_005266050.2:c.1189G>A, XM_005266050.1:c.1189G>T, XM_005266050.1:c.1189G>A, NM_006643.4:c.1147G>T, NM_006643.4:c.1147G>A, NM_006643.3:c.1147G>T, NM_006643.3:c.1147G>A, XM_005266051.4:c.1066G>T, XM_005266051.4:c.1066G>A, XM_005266051.3:c.1066G>T, XM_005266051.3:c.1066G>A, XM_005266051.2:c.1066G>T, XM_005266051.2:c.1066G>A, XM_005266051.1:c.1066G>T, XM_005266051.1:c.1066G>A, XM_017014218.3:c.1363G>T, XM_017014218.3:c.1363G>A, XM_017014218.2:c.1363G>T, XM_017014218.2:c.1363G>A, XM_017014218.1:c.1363G>T, XM_017014218.1:c.1363G>A, XM_011518157.3:c.1117G>T, XM_011518157.3:c.1117G>A, XM_011518157.2:c.1117G>T, XM_011518157.2:c.1117G>A, XM_011518157.1:c.1117G>T, XM_011518157.1:c.1117G>A, NM_001039707.2:c.1216G>T, NM_001039707.2:c.1216G>A, NM_001039707.1:c.1216G>T, NM_001039707.1:c.1216G>A, NM_001039708.2:c.997G>T, NM_001039708.2:c.997G>A, NM_001039708.1:c.997G>T, NM_001039708.1:c.997G>A, XM_047422655.1:c.1120G>T, XM_047422655.1:c.1120G>A, XM_047422656.1:c.1039G>T, XM_047422656.1:c.1039G>A, XM_047422657.1:c.970G>T, XM_047422657.1:c.970G>A, XP_005266107.1:p.Val397Phe, XP_005266107.1:p.Val397Ile, NP_006634.3:p.Val383Phe, NP_006634.3:p.Val383Ile, XP_005266108.1:p.Val356Phe, XP_005266108.1:p.Val356Ile, XP_016869707.1:p.Val455Phe, XP_016869707.1:p.Val455Ile, XP_011516459.1:p.Val373Phe, XP_011516459.1:p.Val373Ile, NP_001034796.1:p.Val406Phe, NP_001034796.1:p.Val406Ile, NP_001034797.1:p.Val333Phe, NP_001034797.1:p.Val333Ile, XP_047278611.1:p.Val374Phe, XP_047278611.1:p.Val374Ile, XP_047278612.1:p.Val347Phe, XP_047278612.1:p.Val347Ile, XP_047278613.1:p.Val324Phe, XP_047278613.1:p.Val324Ile

Select item 146574115515.

rs1465741155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136410338 (GRCh38)
9:139304790 (GRCh37)
Canonical SPDI:: NC_000009.12:136410337:G:A
Gene:: ENTR1 (Varview), PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136410338G>A, NC_000009.11:g.139304790G>A, NG_046789.1:g.4766G>A, XM_005266050.5:c.60C>T, XM_005266050.4:c.60C>T, XM_005266050.3:c.60C>T, XM_005266050.2:c.60C>T, XM_005266050.1:c.60C>T, NM_006643.4:c.60C>T, NM_006643.3:c.60C>T, XM_005266051.4:c.60C>T, XM_005266051.3:c.60C>T, XM_005266051.2:c.60C>T, XM_005266051.1:c.60C>T, XM_017014218.3:c.60C>T, XM_017014218.2:c.60C>T, XM_017014218.1:c.60C>T, NM_001039707.2:c.60C>T, NM_001039707.1:c.60C>T, NM_001039708.2:c.60C>T, NM_001039708.1:c.60C>T, XR_002956746.2:n.277C>T, XR_002956746.1:n.155C>T, XM_047422655.1:c.60C>T, XM_047422656.1:c.60C>T, XM_047422657.1:c.60C>T

Select item 146275596216.

rs1462755962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136407327 (GRCh38)
9:139301779 (GRCh37)
Canonical SPDI:: NC_000009.12:136407326:A:G
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.136407327A>G, NC_000009.11:g.139301779A>G, NG_046789.1:g.1755A>G, XM_005266050.5:c.637T>C, XM_005266050.4:c.637T>C, XM_005266050.3:c.637T>C, XM_005266050.2:c.637T>C, XM_005266050.1:c.637T>C, NM_006643.4:c.568T>C, NM_006643.3:c.568T>C, XM_005266051.4:c.487T>C, XM_005266051.3:c.487T>C, XM_005266051.2:c.487T>C, XM_005266051.1:c.487T>C, XM_017014218.3:c.784T>C, XM_017014218.2:c.784T>C, XM_017014218.1:c.784T>C, XM_011518157.3:c.538T>C, XM_011518157.2:c.538T>C, XM_011518157.1:c.538T>C, NM_001039707.2:c.637T>C, NM_001039707.1:c.637T>C, NM_001039708.2:c.418T>C, NM_001039708.1:c.418T>C, XR_002956746.2:n.854T>C, XR_002956746.1:n.732T>C, XM_047422655.1:c.568T>C, XM_047422656.1:c.487T>C, XM_047422657.1:c.418T>C, XP_005266107.1:p.Ser213Pro, NP_006634.3:p.Ser190Pro, XP_005266108.1:p.Ser163Pro, XP_016869707.1:p.Ser262Pro, XP_011516459.1:p.Ser180Pro, NP_001034796.1:p.Ser213Pro, NP_001034797.1:p.Ser140Pro, XP_047278611.1:p.Ser190Pro, XP_047278612.1:p.Ser163Pro, XP_047278613.1:p.Ser140Pro

Select item 146199717917.

rs1461997179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136407436 (GRCh38)
9:139301888 (GRCh37)
Canonical SPDI:: NC_000009.12:136407435:C:T
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136407436C>T, NC_000009.11:g.139301888C>T, NG_046789.1:g.1864C>T, XM_005266050.5:c.528G>A, XM_005266050.4:c.528G>A, XM_005266050.3:c.528G>A, XM_005266050.2:c.528G>A, XM_005266050.1:c.528G>A, NM_006643.4:c.459G>A, NM_006643.3:c.459G>A, XM_005266051.4:c.378G>A, XM_005266051.3:c.378G>A, XM_005266051.2:c.378G>A, XM_005266051.1:c.378G>A, XM_017014218.3:c.675G>A, XM_017014218.2:c.675G>A, XM_017014218.1:c.675G>A, XM_011518157.3:c.429G>A, XM_011518157.2:c.429G>A, XM_011518157.1:c.429G>A, NM_001039707.2:c.528G>A, NM_001039707.1:c.528G>A, NM_001039708.2:c.309G>A, NM_001039708.1:c.309G>A, XR_002956746.2:n.745G>A, XR_002956746.1:n.623G>A, XM_047422655.1:c.459G>A, XM_047422656.1:c.378G>A, XM_047422657.1:c.309G>A

Select item 146185195018.

rs1461851950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136402803 (GRCh38)
9:139297255 (GRCh37)
Canonical SPDI:: NC_000009.12:136402802:C:G
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.136402803C>G, NC_000009.11:g.139297255C>G, NG_051233.1:g.2418G>C, XM_005266050.5:c.1266G>C, XM_005266050.4:c.1266G>C, XM_005266050.3:c.1266G>C, XM_005266050.2:c.1266G>C, XM_005266050.1:c.1266G>C, NM_006643.4:c.1224G>C, NM_006643.3:c.1224G>C, XM_005266051.4:c.1143G>C, XM_005266051.3:c.1143G>C, XM_005266051.2:c.1143G>C, XM_005266051.1:c.1143G>C, XM_017014218.3:c.1440G>C, XM_017014218.2:c.1440G>C, XM_017014218.1:c.1440G>C, XM_011518157.3:c.1194G>C, XM_011518157.2:c.1194G>C, XM_011518157.1:c.1194G>C, NM_001039707.2:c.1293G>C, NM_001039707.1:c.1293G>C, NM_001039708.2:c.1074G>C, NM_001039708.1:c.1074G>C, XM_047422655.1:c.1197G>C, XM_047422656.1:c.1116G>C, XM_047422657.1:c.1047G>C, XP_005266107.1:p.Glu422Asp, NP_006634.3:p.Glu408Asp, XP_005266108.1:p.Glu381Asp, XP_016869707.1:p.Glu480Asp, XP_011516459.1:p.Glu398Asp, NP_001034796.1:p.Glu431Asp, NP_001034797.1:p.Glu358Asp, XP_047278611.1:p.Glu399Asp, XP_047278612.1:p.Glu372Asp, XP_047278613.1:p.Glu349Asp

Select item 145836751419.

rs1458367514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136407243 (GRCh38)
9:139301695 (GRCh37)
Canonical SPDI:: NC_000009.12:136407242:G:A
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136407243G>A, NC_000009.11:g.139301695G>A, NG_046789.1:g.1671G>A, XM_005266050.5:c.721C>T, XM_005266050.4:c.721C>T, XM_005266050.3:c.721C>T, XM_005266050.2:c.721C>T, XM_005266050.1:c.721C>T, NM_006643.4:c.652C>T, NM_006643.3:c.652C>T, XM_005266051.4:c.571C>T, XM_005266051.3:c.571C>T, XM_005266051.2:c.571C>T, XM_005266051.1:c.571C>T, XM_017014218.3:c.868C>T, XM_017014218.2:c.868C>T, XM_017014218.1:c.868C>T, XM_011518157.3:c.622C>T, XM_011518157.2:c.622C>T, XM_011518157.1:c.622C>T, NM_001039707.2:c.721C>T, NM_001039707.1:c.721C>T, NM_001039708.2:c.502C>T, NM_001039708.1:c.502C>T, XR_002956746.2:n.938C>T, XR_002956746.1:n.816C>T, XM_047422655.1:c.652C>T, XM_047422656.1:c.571C>T, XM_047422657.1:c.502C>T, XP_005266107.1:p.Pro241Ser, NP_006634.3:p.Pro218Ser, XP_005266108.1:p.Pro191Ser, XP_016869707.1:p.Pro290Ser, XP_011516459.1:p.Pro208Ser, NP_001034796.1:p.Pro241Ser, NP_001034797.1:p.Pro168Ser, XP_047278611.1:p.Pro218Ser, XP_047278612.1:p.Pro191Ser, XP_047278613.1:p.Pro168Ser

Select item 145737779420.

rs1457377794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136407481 (GRCh38)
9:139301933 (GRCh37)
Canonical SPDI:: NC_000009.12:136407480:C:G
Gene:: ENTR1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000009.12:g.136407481C>G, NC_000009.11:g.139301933C>G, NG_046789.1:g.1909C>G, XM_005266050.5:c.483G>C, XM_005266050.4:c.483G>C, XM_005266050.3:c.483G>C, XM_005266050.2:c.483G>C, XM_005266050.1:c.483G>C, NM_006643.4:c.414G>C, NM_006643.3:c.414G>C, XM_005266051.4:c.333G>C, XM_005266051.3:c.333G>C, XM_005266051.2:c.333G>C, XM_005266051.1:c.333G>C, XM_017014218.3:c.630G>C, XM_017014218.2:c.630G>C, XM_017014218.1:c.630G>C, XM_011518157.3:c.384G>C, XM_011518157.2:c.384G>C, XM_011518157.1:c.384G>C, NM_001039707.2:c.483G>C, NM_001039707.1:c.483G>C, NM_001039708.2:c.264G>C, NM_001039708.1:c.264G>C, XR_002956746.2:n.700G>C, XR_002956746.1:n.578G>C, XM_047422655.1:c.414G>C, XM_047422656.1:c.333G>C, XM_047422657.1:c.264G>C, XP_005266107.1:p.Gln161His, NP_006634.3:p.Gln138His, XP_005266108.1:p.Gln111His, XP_016869707.1:p.Gln210His, XP_011516459.1:p.Gln128His, NP_001034796.1:p.Gln161His, NP_001034797.1:p.Gln88His, XP_047278611.1:p.Gln138His, XP_047278612.1:p.Gln111His, XP_047278613.1:p.Gln88His

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