SNP Links for Protein (Select 528078353) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24138566 (GRCh38)
14:24607775 (GRCh37)
Canonical SPDI:: NC_000014.9:24138565:G:A
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24138566G>A, NW_018654722.1:g.439544G>A, NC_000014.8:g.24607775G>A, NM_176783.3:c.675G>A, NM_176783.2:c.675G>A, NM_001281528.2:c.675G>A, NM_001281528.1:c.675G>A

Select item 14457370858.

rs1445737085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:24137546 (GRCh38)
14:24606755 (GRCh37)
Canonical SPDI:: NC_000014.9:24137545:G:A,NC_000014.9:24137545:G:C
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.24137546G>A, NC_000014.9:g.24137546G>C, NW_018654722.1:g.438524G>A, NW_018654722.1:g.438524G>C, NC_000014.8:g.24606755G>A, NC_000014.8:g.24606755G>C, NM_006263.4:c.273G>A, NM_006263.4:c.273G>C, NM_006263.3:c.273G>A, NM_006263.3:c.273G>C, NM_176783.3:c.273G>A, NM_176783.3:c.273G>C, NM_176783.2:c.273G>A, NM_176783.2:c.273G>C, NM_001281528.2:c.273G>A, NM_001281528.2:c.273G>C, NM_001281528.1:c.273G>A, NM_001281528.1:c.273G>C, NM_001281529.2:c.273G>A, NM_001281529.2:c.273G>C, NM_001281529.1:c.273G>A, NM_001281529.1:c.273G>C, NP_006254.1:p.Lys91Asn, NP_788955.1:p.Lys91Asn, NP_001268457.1:p.Lys91Asn, NP_001268458.1:p.Lys91Asn

Select item 14347843809.

rs1434784380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24137387 (GRCh38)
14:24606596 (GRCh37)
Canonical SPDI:: NC_000014.9:24137386:C:G
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_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_000014.9:g.24137387C>G, NW_018654722.1:g.438365C>G, NC_000014.8:g.24606596C>G, NM_006263.4:c.202C>G, NM_006263.3:c.202C>G, NM_176783.3:c.202C>G, NM_176783.2:c.202C>G, NM_001281528.2:c.202C>G, NM_001281528.1:c.202C>G, NM_001281529.2:c.202C>G, NM_001281529.1:c.202C>G, NP_006254.1:p.Pro68Ala, NP_788955.1:p.Pro68Ala, NP_001268457.1:p.Pro68Ala, NP_001268458.1:p.Pro68Ala

Select item 143385156310.

rs1433851563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24137165 (GRCh38)
14:24606374 (GRCh37)
Canonical SPDI:: NC_000014.9:24137164:A:G
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24137165A>G, NW_018654722.1:g.438143A>G, NC_000014.8:g.24606374A>G, NM_006263.4:c.95A>G, NM_006263.3:c.95A>G, NM_176783.3:c.95A>G, NM_176783.2:c.95A>G, NM_001281528.2:c.95A>G, NM_001281528.1:c.95A>G, NM_001281529.2:c.95A>G, NM_001281529.1:c.95A>G, NP_006254.1:p.Tyr32Cys, NP_788955.1:p.Tyr32Cys, NP_001268457.1:p.Tyr32Cys, NP_001268458.1:p.Tyr32Cys

Select item 142750591711.

rs1427505917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24136990 (GRCh38)
14:24606199 (GRCh37)
Canonical SPDI:: NC_000014.9:24136989:T:C
Gene:: PSME1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.24136990T>C, NW_018654722.1:g.437968T>C, NC_000014.8:g.24606199T>C, NM_006263.4:c.45T>C, NM_006263.3:c.45T>C, NM_176783.3:c.45T>C, NM_176783.2:c.45T>C, NM_001281528.2:c.45T>C, NM_001281528.1:c.45T>C, NM_001281529.2:c.45T>C, NM_001281529.1:c.45T>C

Select item 141164458512.

rs1411644585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:24138206 (GRCh38)
14:24607415 (GRCh37)
Canonical SPDI:: NC_000014.9:24138205:T:G
Gene:: PSME1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.24138206T>G, NW_018654722.1:g.439184T>G, NC_000014.8:g.24607415T>G, NM_006263.4:c.470T>G, NM_006263.3:c.470T>G, NM_176783.3:c.470T>G, NM_176783.2:c.470T>G, NM_001281528.2:c.470T>G, NM_001281528.1:c.470T>G, NP_006254.1:p.Phe157Cys, NP_788955.1:p.Phe157Cys, NP_001268457.1:p.Phe157Cys

Select item 140782323613.

rs1407823236 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:24137163 (GRCh38)
14:24606372 (GRCh37)
Canonical SPDI:: NC_000014.9:24137162:C:
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24137163del, NW_018654722.1:g.438141del, NC_000014.8:g.24606372del, NM_006263.4:c.93del, NM_006263.3:c.93del, NM_176783.3:c.93del, NM_176783.2:c.93del, NM_001281528.2:c.93del, NM_001281528.1:c.93del, NM_001281529.2:c.93del, NM_001281529.1:c.93del, NP_006254.1:p.Tyr32fs, NP_788955.1:p.Tyr32fs, NP_001268457.1:p.Tyr32fs, NP_001268458.1:p.Tyr32fs

Select item 140594892414.

rs1405948924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24137374 (GRCh38)
14:24606583 (GRCh37)
Canonical SPDI:: NC_000014.9:24137373:C:G
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24137374C>G, NW_018654722.1:g.438352C>G, NC_000014.8:g.24606583C>G, NM_006263.4:c.189C>G, NM_006263.3:c.189C>G, NM_176783.3:c.189C>G, NM_176783.2:c.189C>G, NM_001281528.2:c.189C>G, NM_001281528.1:c.189C>G, NM_001281529.2:c.189C>G, NM_001281529.1:c.189C>G, NP_006254.1:p.Ile63Met, NP_788955.1:p.Ile63Met, NP_001268457.1:p.Ile63Met, NP_001268458.1:p.Ile63Met

Select item 140586229015.

rs1405862290 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGGTGTTTGA>- [Show Flanks]
Chromosome:: 14:24138199 (GRCh38)
14:24607408 (GRCh37)
Canonical SPDI:: NC_000014.9:24138198:AAGGTGTTTGA:
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24138199_24138209del, NW_018654722.1:g.439177_439187del, NC_000014.8:g.24607408_24607418del, NM_006263.4:c.463_473del, NM_006263.3:c.463_473del, NM_176783.3:c.463_473del, NM_176783.2:c.463_473del, NM_001281528.2:c.463_473del, NM_001281528.1:c.463_473del, NP_006254.1:p.Lys155fs, NP_788955.1:p.Lys155fs, NP_001268457.1:p.Lys155fs

Select item 140574906516.

rs1405749065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24137003 (GRCh38)
14:24606212 (GRCh37)
Canonical SPDI:: NC_000014.9:24137002:G:A
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24137003G>A, NW_018654722.1:g.437981G>A, NC_000014.8:g.24606212G>A, NM_006263.4:c.58G>A, NM_006263.3:c.58G>A, NM_176783.3:c.58G>A, NM_176783.2:c.58G>A, NM_001281528.2:c.58G>A, NM_001281528.1:c.58G>A, NM_001281529.2:c.58G>A, NM_001281529.1:c.58G>A, NP_006254.1:p.Asp20Asn, NP_788955.1:p.Asp20Asn, NP_001268457.1:p.Asp20Asn, NP_001268458.1:p.Asp20Asn

Select item 139868828917.

rs1398688289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24138541 (GRCh38)
14:24607750 (GRCh37)
Canonical SPDI:: NC_000014.9:24138540:T:C
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24138541T>C, NW_018654722.1:g.439519T>C, NC_000014.8:g.24607750T>C, NM_006263.4:c.650T>C, NM_006263.3:c.650T>C, NM_176783.3:c.650T>C, NM_176783.2:c.650T>C, NM_001281528.2:c.650T>C, NM_001281528.1:c.650T>C, NM_001281529.2:c.611T>C, NM_001281529.1:c.611T>C, NP_006254.1:p.Met217Thr, NP_788955.1:p.Met217Thr, NP_001268457.1:p.Met217Thr, NP_001268458.1:p.Met204Thr

Select item 139241949518.

rs1392419495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:24138492 (GRCh38)
14:24607701 (GRCh37)
Canonical SPDI:: NC_000014.9:24138491:G:T
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.24138492G>T, NW_018654722.1:g.439470G>T, NC_000014.8:g.24607701G>T, NM_006263.4:c.601G>T, NM_006263.3:c.601G>T, NM_176783.3:c.601G>T, NM_176783.2:c.601G>T, NM_001281528.2:c.601G>T, NM_001281528.1:c.601G>T, NM_001281529.2:c.562G>T, NM_001281529.1:c.562G>T, NP_006254.1:p.Val201Leu, NP_788955.1:p.Val201Leu, NP_001268457.1:p.Val201Leu, NP_001268458.1:p.Val188Leu

Select item 139138399619.

rs1391383996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:24136267 (GRCh38)
14:24605476 (GRCh37)
Canonical SPDI:: NC_000014.9:24136266:C:A
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.24136267C>A, NW_018654722.1:g.437245C>A, NC_000014.8:g.24605476C>A, NM_006263.4:c.5C>A, NM_006263.3:c.5C>A, NM_176783.3:c.5C>A, NM_176783.2:c.5C>A, NM_001281528.2:c.5C>A, NM_001281528.1:c.5C>A, NM_001281529.2:c.5C>A, NM_001281529.1:c.5C>A, NP_006254.1:p.Ala2Asp, NP_788955.1:p.Ala2Asp, NP_001268457.1:p.Ala2Asp, NP_001268458.1:p.Ala2Asp

Select item 138706661720.

rs1387066617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24138082 (GRCh38)
14:24607291 (GRCh37)
Canonical SPDI:: NC_000014.9:24138081:A:G
Gene:: PSME1 (Varview)
Functional Consequence:: coding_sequence_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_000014.9:g.24138082A>G, NW_018654722.1:g.439060A>G, NC_000014.8:g.24607291A>G, NM_006263.4:c.424A>G, NM_006263.3:c.424A>G, NM_176783.3:c.424A>G, NM_176783.2:c.424A>G, NM_001281528.2:c.424A>G, NM_001281528.1:c.424A>G, NM_001281529.2:c.424A>G, NM_001281529.1:c.424A>G, NP_006254.1:p.Ile142Val, NP_788955.1:p.Ile142Val, NP_001268457.1:p.Ile142Val, NP_001268458.1:p.Ile142Val

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