SNP Links for Protein (Select 161377455) - SNP

Links from Protein

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Select item 14891323711.

rs1489132371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11576363 (GRCh38)
19:11687178 (GRCh37)
Canonical SPDI:: NC_000019.10:11576362:G:A
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11576363G>A, NC_000019.9:g.11687178G>A, NG_028127.1:g.7624C>T, NM_001611.5:c.615C>T, NM_001611.4:c.615C>T, NM_001611.3:c.615C>T, NM_001111035.3:c.615C>T, NM_001111035.2:c.615C>T, NM_001111035.1:c.615C>T, NM_001111034.3:c.615C>T, NM_001111034.2:c.615C>T, NM_001111034.1:c.615C>T, NM_001111036.3:c.615C>T, NM_001111036.2:c.615C>T, NM_001111036.1:c.615C>T, NM_001322023.2:c.615C>T, NM_001322023.1:c.615C>T, XM_011528069.3:c.615C>T, XM_011528069.2:c.615C>T, XM_011528069.1:c.615C>T, XM_005259938.2:c.615C>T, XM_005259938.1:c.615C>T, XM_047438945.1:c.615C>T, XM_047438944.1:c.615C>T

Select item 14865500572.

rs1486550057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11577267 (GRCh38)
19:11688082 (GRCh37)
Canonical SPDI:: NC_000019.10:11577266:G:A
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11577267G>A, NC_000019.9:g.11688082G>A, NG_028127.1:g.6720C>T, NM_001611.5:c.51C>T, NM_001611.4:c.51C>T, NM_001611.3:c.51C>T, NM_001111035.3:c.51C>T, NM_001111035.2:c.51C>T, NM_001111035.1:c.51C>T, NM_001111034.3:c.51C>T, NM_001111034.2:c.51C>T, NM_001111034.1:c.51C>T, NM_001111036.3:c.51C>T, NM_001111036.2:c.51C>T, NM_001111036.1:c.51C>T, NM_001322023.2:c.51C>T, NM_001322023.1:c.51C>T, XM_011528069.3:c.51C>T, XM_011528069.2:c.51C>T, XM_011528069.1:c.51C>T, XM_005259938.2:c.51C>T, XM_005259938.1:c.51C>T, XM_047438945.1:c.51C>T, XM_047438944.1:c.51C>T

Select item 14832320103.

rs1483232010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:11575069 (GRCh38)
19:11685884 (GRCh37)
Canonical SPDI:: NC_000019.10:11575068:T:A
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11575069T>A, NC_000019.9:g.11685884T>A, NG_028127.1:g.8918A>T, NM_001611.5:c.919A>T, NM_001611.4:c.919A>T, NM_001611.3:c.919A>T, NM_001111035.3:c.919A>T, NM_001111035.2:c.919A>T, NM_001111035.1:c.919A>T, NM_001111034.3:c.919A>T, NM_001111034.2:c.919A>T, NM_001111034.1:c.919A>T, NM_001111036.3:c.919A>T, NM_001111036.2:c.919A>T, NM_001111036.1:c.919A>T, NM_001322023.2:c.919A>T, NM_001322023.1:c.919A>T, XM_011528069.3:c.919A>T, XM_011528069.2:c.919A>T, XM_011528069.1:c.919A>T, XM_005259938.2:c.919A>T, XM_005259938.1:c.919A>T, XM_047438945.1:c.919A>T, XM_047438944.1:c.919A>T, NP_001602.1:p.Ile307Phe, NP_001104505.1:p.Ile307Phe, NP_001104504.1:p.Ile307Phe, NP_001104506.1:p.Ile307Phe, NP_001308952.1:p.Ile307Phe, XP_011526371.1:p.Ile307Phe, XP_005259995.1:p.Ile307Phe, XP_047294901.1:p.Ile307Phe, XP_047294900.1:p.Ile307Phe

Select item 14825621174.

rs1482562117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:11575162 (GRCh38)
19:11685977 (GRCh37)
Canonical SPDI:: NC_000019.10:11575161:T:C
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.11575162T>C, NC_000019.9:g.11685977T>C, NG_028127.1:g.8825A>G, NM_001611.5:c.826A>G, NM_001611.4:c.826A>G, NM_001611.3:c.826A>G, NM_001111035.3:c.826A>G, NM_001111035.2:c.826A>G, NM_001111035.1:c.826A>G, NM_001111034.3:c.826A>G, NM_001111034.2:c.826A>G, NM_001111034.1:c.826A>G, NM_001111036.3:c.826A>G, NM_001111036.2:c.826A>G, NM_001111036.1:c.826A>G, NM_001322023.2:c.826A>G, NM_001322023.1:c.826A>G, XM_011528069.3:c.826A>G, XM_011528069.2:c.826A>G, XM_011528069.1:c.826A>G, XM_005259938.2:c.826A>G, XM_005259938.1:c.826A>G, XM_047438945.1:c.826A>G, XM_047438944.1:c.826A>G, NP_001602.1:p.Asn276Asp, NP_001104505.1:p.Asn276Asp, NP_001104504.1:p.Asn276Asp, NP_001104506.1:p.Asn276Asp, NP_001308952.1:p.Asn276Asp, XP_011526371.1:p.Asn276Asp, XP_005259995.1:p.Asn276Asp, XP_047294901.1:p.Asn276Asp, XP_047294900.1:p.Asn276Asp

Select item 14806510955.

rs1480651095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11575076 (GRCh38)
19:11685891 (GRCh37)
Canonical SPDI:: NC_000019.10:11575075:G:A
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_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_000019.10:g.11575076G>A, NC_000019.9:g.11685891G>A, NG_028127.1:g.8911C>T, NM_001611.5:c.912C>T, NM_001611.4:c.912C>T, NM_001611.3:c.912C>T, NM_001111035.3:c.912C>T, NM_001111035.2:c.912C>T, NM_001111035.1:c.912C>T, NM_001111034.3:c.912C>T, NM_001111034.2:c.912C>T, NM_001111034.1:c.912C>T, NM_001111036.3:c.912C>T, NM_001111036.2:c.912C>T, NM_001111036.1:c.912C>T, NM_001322023.2:c.912C>T, NM_001322023.1:c.912C>T, XM_011528069.3:c.912C>T, XM_011528069.2:c.912C>T, XM_011528069.1:c.912C>T, XM_005259938.2:c.912C>T, XM_005259938.1:c.912C>T, XM_047438945.1:c.912C>T, XM_047438944.1:c.912C>T

Select item 14790383876.

rs1479038387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:11575158 (GRCh38)
19:11685973 (GRCh37)
Canonical SPDI:: NC_000019.10:11575157:C:G
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11575158C>G, NC_000019.9:g.11685973C>G, NG_028127.1:g.8829G>C, NM_001611.5:c.830G>C, NM_001611.4:c.830G>C, NM_001611.3:c.830G>C, NM_001111035.3:c.830G>C, NM_001111035.2:c.830G>C, NM_001111035.1:c.830G>C, NM_001111034.3:c.830G>C, NM_001111034.2:c.830G>C, NM_001111034.1:c.830G>C, NM_001111036.3:c.830G>C, NM_001111036.2:c.830G>C, NM_001111036.1:c.830G>C, NM_001322023.2:c.830G>C, NM_001322023.1:c.830G>C, XM_011528069.3:c.830G>C, XM_011528069.2:c.830G>C, XM_011528069.1:c.830G>C, XM_005259938.2:c.830G>C, XM_005259938.1:c.830G>C, XM_047438945.1:c.830G>C, XM_047438944.1:c.830G>C, NP_001602.1:p.Gly277Ala, NP_001104505.1:p.Gly277Ala, NP_001104504.1:p.Gly277Ala, NP_001104506.1:p.Gly277Ala, NP_001308952.1:p.Gly277Ala, XP_011526371.1:p.Gly277Ala, XP_005259995.1:p.Gly277Ala, XP_047294901.1:p.Gly277Ala, XP_047294900.1:p.Gly277Ala

Select item 14777661817.

rs1477766181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:11577142 (GRCh38)
19:11687957 (GRCh37)
Canonical SPDI:: NC_000019.10:11577141:T:C
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11577142T>C, NC_000019.9:g.11687957T>C, NG_028127.1:g.6845A>G, NM_001611.5:c.176A>G, NM_001611.4:c.176A>G, NM_001611.3:c.176A>G, NM_001111035.3:c.176A>G, NM_001111035.2:c.176A>G, NM_001111035.1:c.176A>G, NM_001111034.3:c.176A>G, NM_001111034.2:c.176A>G, NM_001111034.1:c.176A>G, NM_001111036.3:c.176A>G, NM_001111036.2:c.176A>G, NM_001111036.1:c.176A>G, NM_001322023.2:c.176A>G, NM_001322023.1:c.176A>G, XM_011528069.3:c.176A>G, XM_011528069.2:c.176A>G, XM_011528069.1:c.176A>G, XM_005259938.2:c.176A>G, XM_005259938.1:c.176A>G, XM_047438945.1:c.176A>G, XM_047438944.1:c.176A>G, NP_001602.1:p.Gln59Arg, NP_001104505.1:p.Gln59Arg, NP_001104504.1:p.Gln59Arg, NP_001104506.1:p.Gln59Arg, NP_001308952.1:p.Gln59Arg, XP_011526371.1:p.Gln59Arg, XP_005259995.1:p.Gln59Arg, XP_047294901.1:p.Gln59Arg, XP_047294900.1:p.Gln59Arg

Select item 14761151128.

rs1476115112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:11577205 (GRCh38)
19:11688020 (GRCh37)
Canonical SPDI:: NC_000019.10:11577204:G:T
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11577205G>T, NC_000019.9:g.11688020G>T, NG_028127.1:g.6782C>A, NM_001611.5:c.113C>A, NM_001611.4:c.113C>A, NM_001611.3:c.113C>A, NM_001111035.3:c.113C>A, NM_001111035.2:c.113C>A, NM_001111035.1:c.113C>A, NM_001111034.3:c.113C>A, NM_001111034.2:c.113C>A, NM_001111034.1:c.113C>A, NM_001111036.3:c.113C>A, NM_001111036.2:c.113C>A, NM_001111036.1:c.113C>A, NM_001322023.2:c.113C>A, NM_001322023.1:c.113C>A, XM_011528069.3:c.113C>A, XM_011528069.2:c.113C>A, XM_011528069.1:c.113C>A, XM_005259938.2:c.113C>A, XM_005259938.1:c.113C>A, XM_047438945.1:c.113C>A, XM_047438944.1:c.113C>A, NP_001602.1:p.Pro38His, NP_001104505.1:p.Pro38His, NP_001104504.1:p.Pro38His, NP_001104506.1:p.Pro38His, NP_001308952.1:p.Pro38His, XP_011526371.1:p.Pro38His, XP_005259995.1:p.Pro38His, XP_047294901.1:p.Pro38His, XP_047294900.1:p.Pro38His

Select item 14722583099.

rs1472258309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:11575095 (GRCh38)
19:11685910 (GRCh37)
Canonical SPDI:: NC_000019.10:11575094:C:G
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11575095C>G, NC_000019.9:g.11685910C>G, NG_028127.1:g.8892G>C, NM_001611.5:c.893G>C, NM_001611.4:c.893G>C, NM_001611.3:c.893G>C, NM_001111035.3:c.893G>C, NM_001111035.2:c.893G>C, NM_001111035.1:c.893G>C, NM_001111034.3:c.893G>C, NM_001111034.2:c.893G>C, NM_001111034.1:c.893G>C, NM_001111036.3:c.893G>C, NM_001111036.2:c.893G>C, NM_001111036.1:c.893G>C, NM_001322023.2:c.893G>C, NM_001322023.1:c.893G>C, XM_011528069.3:c.893G>C, XM_011528069.2:c.893G>C, XM_011528069.1:c.893G>C, XM_005259938.2:c.893G>C, XM_005259938.1:c.893G>C, XM_047438945.1:c.893G>C, XM_047438944.1:c.893G>C, NP_001602.1:p.Ser298Thr, NP_001104505.1:p.Ser298Thr, NP_001104504.1:p.Ser298Thr, NP_001104506.1:p.Ser298Thr, NP_001308952.1:p.Ser298Thr, XP_011526371.1:p.Ser298Thr, XP_005259995.1:p.Ser298Thr, XP_047294901.1:p.Ser298Thr, XP_047294900.1:p.Ser298Thr

Select item 146766251610.

rs1467662516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11576371 (GRCh38)
19:11687186 (GRCh37)
Canonical SPDI:: NC_000019.10:11576370:C:T
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.11576371C>T, NC_000019.9:g.11687186C>T, NG_028127.1:g.7616G>A, NM_001611.5:c.607G>A, NM_001611.4:c.607G>A, NM_001611.3:c.607G>A, NM_001111035.3:c.607G>A, NM_001111035.2:c.607G>A, NM_001111035.1:c.607G>A, NM_001111034.3:c.607G>A, NM_001111034.2:c.607G>A, NM_001111034.1:c.607G>A, NM_001111036.3:c.607G>A, NM_001111036.2:c.607G>A, NM_001111036.1:c.607G>A, NM_001322023.2:c.607G>A, NM_001322023.1:c.607G>A, XM_011528069.3:c.607G>A, XM_011528069.2:c.607G>A, XM_011528069.1:c.607G>A, XM_005259938.2:c.607G>A, XM_005259938.1:c.607G>A, XM_047438945.1:c.607G>A, XM_047438944.1:c.607G>A, NP_001602.1:p.Ala203Thr, NP_001104505.1:p.Ala203Thr, NP_001104504.1:p.Ala203Thr, NP_001104506.1:p.Ala203Thr, NP_001308952.1:p.Ala203Thr, XP_011526371.1:p.Ala203Thr, XP_005259995.1:p.Ala203Thr, XP_047294901.1:p.Ala203Thr, XP_047294900.1:p.Ala203Thr

Select item 146096064711.

rs1460960647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11576441 (GRCh38)
19:11687256 (GRCh37)
Canonical SPDI:: NC_000019.10:11576440:C:T
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11576441C>T, NC_000019.9:g.11687256C>T, NG_028127.1:g.7546G>A, NM_001611.5:c.537G>A, NM_001611.4:c.537G>A, NM_001611.3:c.537G>A, NM_001111035.3:c.537G>A, NM_001111035.2:c.537G>A, NM_001111035.1:c.537G>A, NM_001111034.3:c.537G>A, NM_001111034.2:c.537G>A, NM_001111034.1:c.537G>A, NM_001111036.3:c.537G>A, NM_001111036.2:c.537G>A, NM_001111036.1:c.537G>A, NM_001322023.2:c.537G>A, NM_001322023.1:c.537G>A, XM_011528069.3:c.537G>A, XM_011528069.2:c.537G>A, XM_011528069.1:c.537G>A, XM_005259938.2:c.537G>A, XM_005259938.1:c.537G>A, XM_047438945.1:c.537G>A, XM_047438944.1:c.537G>A

Select item 145333506412.

rs1453335064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:11576247 (GRCh38)
19:11687062 (GRCh37)
Canonical SPDI:: NC_000019.10:11576246:A:C,NC_000019.10:11576246:A:G
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11576247A>C, NC_000019.10:g.11576247A>G, NC_000019.9:g.11687062A>C, NC_000019.9:g.11687062A>G, NG_028127.1:g.7740T>G, NG_028127.1:g.7740T>C, NM_001611.5:c.731T>G, NM_001611.5:c.731T>C, NM_001611.4:c.731T>G, NM_001611.4:c.731T>C, NM_001611.3:c.731T>G, NM_001611.3:c.731T>C, NM_001111035.3:c.731T>G, NM_001111035.3:c.731T>C, NM_001111035.2:c.731T>G, NM_001111035.2:c.731T>C, NM_001111035.1:c.731T>G, NM_001111035.1:c.731T>C, NM_001111034.3:c.731T>G, NM_001111034.3:c.731T>C, NM_001111034.2:c.731T>G, NM_001111034.2:c.731T>C, NM_001111034.1:c.731T>G, NM_001111034.1:c.731T>C, NM_001111036.3:c.731T>G, NM_001111036.3:c.731T>C, NM_001111036.2:c.731T>G, NM_001111036.2:c.731T>C, NM_001111036.1:c.731T>G, NM_001111036.1:c.731T>C, NM_001322023.2:c.731T>G, NM_001322023.2:c.731T>C, NM_001322023.1:c.731T>G, NM_001322023.1:c.731T>C, XM_011528069.3:c.731T>G, XM_011528069.3:c.731T>C, XM_011528069.2:c.731T>G, XM_011528069.2:c.731T>C, XM_011528069.1:c.731T>G, XM_011528069.1:c.731T>C, XM_005259938.2:c.731T>G, XM_005259938.2:c.731T>C, XM_005259938.1:c.731T>G, XM_005259938.1:c.731T>C, XM_047438945.1:c.731T>G, XM_047438945.1:c.731T>C, XM_047438944.1:c.731T>G, XM_047438944.1:c.731T>C, NP_001602.1:p.Leu244Arg, NP_001602.1:p.Leu244Pro, NP_001104505.1:p.Leu244Arg, NP_001104505.1:p.Leu244Pro, NP_001104504.1:p.Leu244Arg, NP_001104504.1:p.Leu244Pro, NP_001104506.1:p.Leu244Arg, NP_001104506.1:p.Leu244Pro, NP_001308952.1:p.Leu244Arg, NP_001308952.1:p.Leu244Pro, XP_011526371.1:p.Leu244Arg, XP_011526371.1:p.Leu244Pro, XP_005259995.1:p.Leu244Arg, XP_005259995.1:p.Leu244Pro, XP_047294901.1:p.Leu244Arg, XP_047294901.1:p.Leu244Pro, XP_047294900.1:p.Leu244Arg, XP_047294900.1:p.Leu244Pro

Select item 145207775113.

rs1452077751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11577232 (GRCh38)
19:11688047 (GRCh37)
Canonical SPDI:: NC_000019.10:11577231:A:G
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11577232A>G, NC_000019.9:g.11688047A>G, NG_028127.1:g.6755T>C, NM_001611.5:c.86T>C, NM_001611.4:c.86T>C, NM_001611.3:c.86T>C, NM_001111035.3:c.86T>C, NM_001111035.2:c.86T>C, NM_001111035.1:c.86T>C, NM_001111034.3:c.86T>C, NM_001111034.2:c.86T>C, NM_001111034.1:c.86T>C, NM_001111036.3:c.86T>C, NM_001111036.2:c.86T>C, NM_001111036.1:c.86T>C, NM_001322023.2:c.86T>C, NM_001322023.1:c.86T>C, XM_011528069.3:c.86T>C, XM_011528069.2:c.86T>C, XM_011528069.1:c.86T>C, XM_005259938.2:c.86T>C, XM_005259938.1:c.86T>C, XM_047438945.1:c.86T>C, XM_047438944.1:c.86T>C, NP_001602.1:p.Val29Ala, NP_001104505.1:p.Val29Ala, NP_001104504.1:p.Val29Ala, NP_001104506.1:p.Val29Ala, NP_001308952.1:p.Val29Ala, XP_011526371.1:p.Val29Ala, XP_005259995.1:p.Val29Ala, XP_047294901.1:p.Val29Ala, XP_047294900.1:p.Val29Ala

Select item 144985748514.

rs1449857485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:11575204 (GRCh38)
19:11686019 (GRCh37)
Canonical SPDI:: NC_000019.10:11575203:T:A,NC_000019.10:11575203:T:G
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000685/2 (KOREAN)
HGVS:: NC_000019.10:g.11575204T>A, NC_000019.10:g.11575204T>G, NC_000019.9:g.11686019T>A, NC_000019.9:g.11686019T>G, NG_028127.1:g.8783A>T, NG_028127.1:g.8783A>C, NM_001611.5:c.784A>T, NM_001611.5:c.784A>C, NM_001611.4:c.784A>T, NM_001611.4:c.784A>C, NM_001611.3:c.784A>T, NM_001611.3:c.784A>C, NM_001111035.3:c.784A>T, NM_001111035.3:c.784A>C, NM_001111035.2:c.784A>T, NM_001111035.2:c.784A>C, NM_001111035.1:c.784A>T, NM_001111035.1:c.784A>C, NM_001111034.3:c.784A>T, NM_001111034.3:c.784A>C, NM_001111034.2:c.784A>T, NM_001111034.2:c.784A>C, NM_001111034.1:c.784A>T, NM_001111034.1:c.784A>C, NM_001111036.3:c.784A>T, NM_001111036.3:c.784A>C, NM_001111036.2:c.784A>T, NM_001111036.2:c.784A>C, NM_001111036.1:c.784A>T, NM_001111036.1:c.784A>C, NM_001322023.2:c.784A>T, NM_001322023.2:c.784A>C, NM_001322023.1:c.784A>T, NM_001322023.1:c.784A>C, XM_011528069.3:c.784A>T, XM_011528069.3:c.784A>C, XM_011528069.2:c.784A>T, XM_011528069.2:c.784A>C, XM_011528069.1:c.784A>T, XM_011528069.1:c.784A>C, XM_005259938.2:c.784A>T, XM_005259938.2:c.784A>C, XM_005259938.1:c.784A>T, XM_005259938.1:c.784A>C, XM_047438945.1:c.784A>T, XM_047438945.1:c.784A>C, XM_047438944.1:c.784A>T, XM_047438944.1:c.784A>C, NP_001602.1:p.Asn262Tyr, NP_001602.1:p.Asn262His, NP_001104505.1:p.Asn262Tyr, NP_001104505.1:p.Asn262His, NP_001104504.1:p.Asn262Tyr, NP_001104504.1:p.Asn262His, NP_001104506.1:p.Asn262Tyr, NP_001104506.1:p.Asn262His, NP_001308952.1:p.Asn262Tyr, NP_001308952.1:p.Asn262His, XP_011526371.1:p.Asn262Tyr, XP_011526371.1:p.Asn262His, XP_005259995.1:p.Asn262Tyr, XP_005259995.1:p.Asn262His, XP_047294901.1:p.Asn262Tyr, XP_047294901.1:p.Asn262His, XP_047294900.1:p.Asn262Tyr, XP_047294900.1:p.Asn262His

Select item 144675301615.

rs1446753016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:11576831 (GRCh38)
19:11687646 (GRCh37)
Canonical SPDI:: NC_000019.10:11576830:C:A,NC_000019.10:11576830:C:T
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11576831C>A, NC_000019.10:g.11576831C>T, NC_000019.9:g.11687646C>A, NC_000019.9:g.11687646C>T, NG_028127.1:g.7156G>T, NG_028127.1:g.7156G>A, NM_001611.5:c.274G>T, NM_001611.5:c.274G>A, NM_001611.4:c.274G>T, NM_001611.4:c.274G>A, NM_001611.3:c.274G>T, NM_001611.3:c.274G>A, NM_001111035.3:c.274G>T, NM_001111035.3:c.274G>A, NM_001111035.2:c.274G>T, NM_001111035.2:c.274G>A, NM_001111035.1:c.274G>T, NM_001111035.1:c.274G>A, NM_001111034.3:c.274G>T, NM_001111034.3:c.274G>A, NM_001111034.2:c.274G>T, NM_001111034.2:c.274G>A, NM_001111034.1:c.274G>T, NM_001111034.1:c.274G>A, NM_001111036.3:c.274G>T, NM_001111036.3:c.274G>A, NM_001111036.2:c.274G>T, NM_001111036.2:c.274G>A, NM_001111036.1:c.274G>T, NM_001111036.1:c.274G>A, NM_001322023.2:c.274G>T, NM_001322023.2:c.274G>A, NM_001322023.1:c.274G>T, NM_001322023.1:c.274G>A, XM_011528069.3:c.274G>T, XM_011528069.3:c.274G>A, XM_011528069.2:c.274G>T, XM_011528069.2:c.274G>A, XM_011528069.1:c.274G>T, XM_011528069.1:c.274G>A, XM_005259938.2:c.274G>T, XM_005259938.2:c.274G>A, XM_005259938.1:c.274G>T, XM_005259938.1:c.274G>A, XM_047438945.1:c.274G>T, XM_047438945.1:c.274G>A, XM_047438944.1:c.274G>T, XM_047438944.1:c.274G>A, NP_001602.1:p.Asp92Tyr, NP_001602.1:p.Asp92Asn, NP_001104505.1:p.Asp92Tyr, NP_001104505.1:p.Asp92Asn, NP_001104504.1:p.Asp92Tyr, NP_001104504.1:p.Asp92Asn, NP_001104506.1:p.Asp92Tyr, NP_001104506.1:p.Asp92Asn, NP_001308952.1:p.Asp92Tyr, NP_001308952.1:p.Asp92Asn, XP_011526371.1:p.Asp92Tyr, XP_011526371.1:p.Asp92Asn, XP_005259995.1:p.Asp92Tyr, XP_005259995.1:p.Asp92Asn, XP_047294901.1:p.Asp92Tyr, XP_047294901.1:p.Asp92Asn, XP_047294900.1:p.Asp92Tyr, XP_047294900.1:p.Asp92Asn

Select item 143667814716.

rs1436678147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11575243 (GRCh38)
19:11686058 (GRCh37)
Canonical SPDI:: NC_000019.10:11575242:C:T
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.11575243C>T, NC_000019.9:g.11686058C>T, NG_028127.1:g.8744G>A, NM_001611.5:c.745G>A, NM_001611.4:c.745G>A, NM_001611.3:c.745G>A, NM_001111035.3:c.745G>A, NM_001111035.2:c.745G>A, NM_001111035.1:c.745G>A, NM_001111034.3:c.745G>A, NM_001111034.2:c.745G>A, NM_001111034.1:c.745G>A, NM_001111036.3:c.745G>A, NM_001111036.2:c.745G>A, NM_001111036.1:c.745G>A, NM_001322023.2:c.745G>A, NM_001322023.1:c.745G>A, XM_011528069.3:c.745G>A, XM_011528069.2:c.745G>A, XM_011528069.1:c.745G>A, XM_005259938.2:c.745G>A, XM_005259938.1:c.745G>A, XM_047438945.1:c.745G>A, XM_047438944.1:c.745G>A, NP_001602.1:p.Asp249Asn, NP_001104505.1:p.Asp249Asn, NP_001104504.1:p.Asp249Asn, NP_001104506.1:p.Asp249Asn, NP_001308952.1:p.Asp249Asn, XP_011526371.1:p.Asp249Asn, XP_005259995.1:p.Asp249Asn, XP_047294901.1:p.Asp249Asn, XP_047294900.1:p.Asp249Asn

Select item 143524974417.

rs1435249744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11576419 (GRCh38)
19:11687234 (GRCh37)
Canonical SPDI:: NC_000019.10:11576418:A:G
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11576419A>G, NC_000019.9:g.11687234A>G, NG_028127.1:g.7568T>C, NM_001611.5:c.559T>C, NM_001611.4:c.559T>C, NM_001611.3:c.559T>C, NM_001111035.3:c.559T>C, NM_001111035.2:c.559T>C, NM_001111035.1:c.559T>C, NM_001111034.3:c.559T>C, NM_001111034.2:c.559T>C, NM_001111034.1:c.559T>C, NM_001111036.3:c.559T>C, NM_001111036.2:c.559T>C, NM_001111036.1:c.559T>C, NM_001322023.2:c.559T>C, NM_001322023.1:c.559T>C, XM_011528069.3:c.559T>C, XM_011528069.2:c.559T>C, XM_011528069.1:c.559T>C, XM_005259938.2:c.559T>C, XM_005259938.1:c.559T>C, XM_047438945.1:c.559T>C, XM_047438944.1:c.559T>C, NP_001602.1:p.Trp187Arg, NP_001104505.1:p.Trp187Arg, NP_001104504.1:p.Trp187Arg, NP_001104506.1:p.Trp187Arg, NP_001308952.1:p.Trp187Arg, XP_011526371.1:p.Trp187Arg, XP_005259995.1:p.Trp187Arg, XP_047294901.1:p.Trp187Arg, XP_047294900.1:p.Trp187Arg

Select item 143383387918.

rs1433833879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:11576269 (GRCh38)
19:11687084 (GRCh37)
Canonical SPDI:: NC_000019.10:11576268:G:A,NC_000019.10:11576268:G:C
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.11576269G>A, NC_000019.10:g.11576269G>C, NC_000019.9:g.11687084G>A, NC_000019.9:g.11687084G>C, NG_028127.1:g.7718C>T, NG_028127.1:g.7718C>G, NM_001611.5:c.709C>T, NM_001611.5:c.709C>G, NM_001611.4:c.709C>T, NM_001611.4:c.709C>G, NM_001611.3:c.709C>T, NM_001611.3:c.709C>G, NM_001111035.3:c.709C>T, NM_001111035.3:c.709C>G, NM_001111035.2:c.709C>T, NM_001111035.2:c.709C>G, NM_001111035.1:c.709C>T, NM_001111035.1:c.709C>G, NM_001111034.3:c.709C>T, NM_001111034.3:c.709C>G, NM_001111034.2:c.709C>T, NM_001111034.2:c.709C>G, NM_001111034.1:c.709C>T, NM_001111034.1:c.709C>G, NM_001111036.3:c.709C>T, NM_001111036.3:c.709C>G, NM_001111036.2:c.709C>T, NM_001111036.2:c.709C>G, NM_001111036.1:c.709C>T, NM_001111036.1:c.709C>G, NM_001322023.2:c.709C>T, NM_001322023.2:c.709C>G, NM_001322023.1:c.709C>T, NM_001322023.1:c.709C>G, XM_011528069.3:c.709C>T, XM_011528069.3:c.709C>G, XM_011528069.2:c.709C>T, XM_011528069.2:c.709C>G, XM_011528069.1:c.709C>T, XM_011528069.1:c.709C>G, XM_005259938.2:c.709C>T, XM_005259938.2:c.709C>G, XM_005259938.1:c.709C>T, XM_005259938.1:c.709C>G, XM_047438945.1:c.709C>T, XM_047438945.1:c.709C>G, XM_047438944.1:c.709C>T, XM_047438944.1:c.709C>G, NP_001602.1:p.Leu237Val, NP_001104505.1:p.Leu237Val, NP_001104504.1:p.Leu237Val, NP_001104506.1:p.Leu237Val, NP_001308952.1:p.Leu237Val, XP_011526371.1:p.Leu237Val, XP_005259995.1:p.Leu237Val, XP_047294901.1:p.Leu237Val, XP_047294900.1:p.Leu237Val

Select item 143332416819.

rs1433324168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11576756 (GRCh38)
19:11687571 (GRCh37)
Canonical SPDI:: NC_000019.10:11576755:C:T
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11576756C>T, NC_000019.9:g.11687571C>T, NG_028127.1:g.7231G>A, NM_001611.5:c.349G>A, NM_001611.4:c.349G>A, NM_001611.3:c.349G>A, NM_001111035.3:c.349G>A, NM_001111035.2:c.349G>A, NM_001111035.1:c.349G>A, NM_001111034.3:c.349G>A, NM_001111034.2:c.349G>A, NM_001111034.1:c.349G>A, NM_001111036.3:c.349G>A, NM_001111036.2:c.349G>A, NM_001111036.1:c.349G>A, NM_001322023.2:c.349G>A, NM_001322023.1:c.349G>A, XM_011528069.3:c.349G>A, XM_011528069.2:c.349G>A, XM_011528069.1:c.349G>A, XM_005259938.2:c.349G>A, XM_005259938.1:c.349G>A, XM_047438945.1:c.349G>A, XM_047438944.1:c.349G>A, NP_001602.1:p.Val117Ile, NP_001104505.1:p.Val117Ile, NP_001104504.1:p.Val117Ile, NP_001104506.1:p.Val117Ile, NP_001308952.1:p.Val117Ile, XP_011526371.1:p.Val117Ile, XP_005259995.1:p.Val117Ile, XP_047294901.1:p.Val117Ile, XP_047294900.1:p.Val117Ile

Select item 143323860120.

rs1433238601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:11576318 (GRCh38)
19:11687133 (GRCh37)
Canonical SPDI:: NC_000019.10:11576317:C:G,NC_000019.10:11576317:C:T
Gene:: ACP5 (Varview), LOC124904638 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
HGVS:: NC_000019.10:g.11576318C>G, NC_000019.10:g.11576318C>T, NC_000019.9:g.11687133C>G, NC_000019.9:g.11687133C>T, NG_028127.1:g.7669G>C, NG_028127.1:g.7669G>A, NM_001611.5:c.660G>C, NM_001611.5:c.660G>A, NM_001611.4:c.660G>C, NM_001611.4:c.660G>A, NM_001611.3:c.660G>C, NM_001611.3:c.660G>A, NM_001111035.3:c.660G>C, NM_001111035.3:c.660G>A, NM_001111035.2:c.660G>C, NM_001111035.2:c.660G>A, NM_001111035.1:c.660G>C, NM_001111035.1:c.660G>A, NM_001111034.3:c.660G>C, NM_001111034.3:c.660G>A, NM_001111034.2:c.660G>C, NM_001111034.2:c.660G>A, NM_001111034.1:c.660G>C, NM_001111034.1:c.660G>A, NM_001111036.3:c.660G>C, NM_001111036.3:c.660G>A, NM_001111036.2:c.660G>C, NM_001111036.2:c.660G>A, NM_001111036.1:c.660G>C, NM_001111036.1:c.660G>A, NM_001322023.2:c.660G>C, NM_001322023.2:c.660G>A, NM_001322023.1:c.660G>C, NM_001322023.1:c.660G>A, XM_011528069.3:c.660G>C, XM_011528069.3:c.660G>A, XM_011528069.2:c.660G>C, XM_011528069.2:c.660G>A, XM_011528069.1:c.660G>C, XM_011528069.1:c.660G>A, XM_005259938.2:c.660G>C, XM_005259938.2:c.660G>A, XM_005259938.1:c.660G>C, XM_005259938.1:c.660G>A, XM_047438945.1:c.660G>C, XM_047438945.1:c.660G>A, XM_047438944.1:c.660G>C, XM_047438944.1:c.660G>A

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