SNP Links for Protein (Select 74048537) - SNP

Links from Protein

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Select item 14889607981.

rs1488960798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:69162167 (GRCh38)
X:68382010 (GRCh37)
Canonical SPDI:: NC_000023.11:69162166:A:G
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69162167A>G, NC_000023.10:g.68382010A>G, NG_021258.1:g.8356T>C, NM_022368.5:c.508T>C, NM_022368.4:c.508T>C, NM_145119.4:c.1072T>C, NM_145119.3:c.1072T>C, NM_001032396.4:c.907T>C, NM_001032396.3:c.907T>C, NM_001032396.2:c.907T>C, NM_001382775.1:c.1072T>C, NM_001382776.1:c.907T>C, NP_071763.2:p.Tyr170His, NP_660095.1:p.Tyr358His, NP_001027568.1:p.Tyr303His, NP_001369704.1:p.Tyr358His, NP_001369705.1:p.Tyr303His

Select item 14875266282.

rs1487526628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:69161394 (GRCh38)
X:68381237 (GRCh37)
Canonical SPDI:: NC_000023.11:69161393:G:A
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.69161394G>A, NC_000023.10:g.68381237G>A, NG_021258.1:g.9129C>T, NM_022368.5:c.1281C>T, NM_022368.4:c.1281C>T, NM_145119.4:c.1845C>T, NM_145119.3:c.1845C>T, NM_001032396.4:c.1680C>T, NM_001032396.3:c.1680C>T, NM_001032396.2:c.1680C>T, NM_001382775.1:c.1845C>T, NM_001382776.1:c.1680C>T

Select item 14853624413.

rs1485362441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:69161728 (GRCh38)
X:68381571 (GRCh37)
Canonical SPDI:: NC_000023.11:69161727:C:A
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69161728C>A, NC_000023.10:g.68381571C>A, NG_021258.1:g.8795G>T, NM_022368.5:c.947G>T, NM_022368.4:c.947G>T, NM_145119.4:c.1511G>T, NM_145119.3:c.1511G>T, NM_001032396.4:c.1346G>T, NM_001032396.3:c.1346G>T, NM_001032396.2:c.1346G>T, NM_001382775.1:c.1511G>T, NM_001382776.1:c.1346G>T, NP_071763.2:p.Ser316Ile, NP_660095.1:p.Ser504Ile, NP_001027568.1:p.Ser449Ile, NP_001369704.1:p.Ser504Ile, NP_001369705.1:p.Ser449Ile

Select item 14833686924.

rs1483368692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:69161511 (GRCh38)
X:68381354 (GRCh37)
Canonical SPDI:: NC_000023.11:69161510:A:G
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69161511A>G, NC_000023.10:g.68381354A>G, NG_021258.1:g.9012T>C, NM_022368.5:c.1164T>C, NM_022368.4:c.1164T>C, NM_145119.4:c.1728T>C, NM_145119.3:c.1728T>C, NM_001032396.4:c.1563T>C, NM_001032396.3:c.1563T>C, NM_001032396.2:c.1563T>C, NM_001382775.1:c.1728T>C, NM_001382776.1:c.1563T>C

Select item 14829738825.

rs1482973882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:69162818 (GRCh38)
X:68382661 (GRCh37)
Canonical SPDI:: NC_000023.11:69162817:C:G,NC_000023.11:69162817:C:T
Gene:: PJA1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.69162818C>G, NC_000023.11:g.69162818C>T, NC_000023.10:g.68382661C>G, NC_000023.10:g.68382661C>T, NG_021258.1:g.7705G>C, NG_021258.1:g.7705G>A, NM_145119.4:c.421G>C, NM_145119.4:c.421G>A, NM_145119.3:c.421G>C, NM_145119.3:c.421G>A, NM_001032396.4:c.256G>C, NM_001032396.4:c.256G>A, NM_001032396.3:c.256G>C, NM_001032396.3:c.256G>A, NM_001032396.2:c.256G>C, NM_001032396.2:c.256G>A, NM_001382775.1:c.421G>C, NM_001382775.1:c.421G>A, NM_001382776.1:c.256G>C, NM_001382776.1:c.256G>A, NP_660095.1:p.Gly141Arg, NP_660095.1:p.Gly141Arg, NP_001027568.1:p.Gly86Arg, NP_001027568.1:p.Gly86Arg, NP_001369704.1:p.Gly141Arg, NP_001369704.1:p.Gly141Arg, NP_001369705.1:p.Gly86Arg, NP_001369705.1:p.Gly86Arg

Select item 14813917726.

rs1481391772 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: X:69162882 (GRCh38)
X:68382725 (GRCh37)
Canonical SPDI:: NC_000023.11:69162881:GT:
Gene:: PJA1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69162882_69162883del, NC_000023.10:g.68382725_68382726del, NG_021258.1:g.7640_7641del, NM_145119.4:c.356_357del, NM_145119.3:c.356_357del, NM_001032396.4:c.191_192del, NM_001032396.3:c.191_192del, NM_001032396.2:c.191_192del, NM_001382775.1:c.356_357del, NM_001382776.1:c.191_192del, NP_660095.1:p.Asp119fs, NP_001027568.1:p.Asp64fs, NP_001369704.1:p.Asp119fs, NP_001369705.1:p.Asp64fs

Select item 14785230637.

rs1478523063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:69162080 (GRCh38)
X:68381923 (GRCh37)
Canonical SPDI:: NC_000023.11:69162079:A:G
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69162080A>G, NC_000023.10:g.68381923A>G, NG_021258.1:g.8443T>C, NM_022368.5:c.595T>C, NM_022368.4:c.595T>C, NM_145119.4:c.1159T>C, NM_145119.3:c.1159T>C, NM_001032396.4:c.994T>C, NM_001032396.3:c.994T>C, NM_001032396.2:c.994T>C, NM_001382775.1:c.1159T>C, NM_001382776.1:c.994T>C, NP_071763.2:p.Ser199Pro, NP_660095.1:p.Ser387Pro, NP_001027568.1:p.Ser332Pro, NP_001369704.1:p.Ser387Pro, NP_001369705.1:p.Ser332Pro

Select item 14765320568.

rs1476532056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69162222 (GRCh38)
X:68382065 (GRCh37)
Canonical SPDI:: NC_000023.11:69162221:C:T
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.69162222C>T, NC_000023.10:g.68382065C>T, NG_021258.1:g.8301G>A, NM_022368.5:c.453G>A, NM_022368.4:c.453G>A, NM_145119.4:c.1017G>A, NM_145119.3:c.1017G>A, NM_001032396.4:c.852G>A, NM_001032396.3:c.852G>A, NM_001032396.2:c.852G>A, NM_001382775.1:c.1017G>A, NM_001382776.1:c.852G>A

Select item 14757614629.

rs1475761462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:69161461 (GRCh38)
X:68381304 (GRCh37)
Canonical SPDI:: NC_000023.11:69161460:A:G
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
G=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.69161461A>G, NC_000023.10:g.68381304A>G, NG_021258.1:g.9062T>C, NM_022368.5:c.1214T>C, NM_022368.4:c.1214T>C, NM_145119.4:c.1778T>C, NM_145119.3:c.1778T>C, NM_001032396.4:c.1613T>C, NM_001032396.3:c.1613T>C, NM_001032396.2:c.1613T>C, NM_001382775.1:c.1778T>C, NM_001382776.1:c.1613T>C, NP_071763.2:p.Met405Thr, NP_660095.1:p.Met593Thr, NP_001027568.1:p.Met538Thr, NP_001369704.1:p.Met593Thr, NP_001369705.1:p.Met538Thr

Select item 146984227610.

rs1469842276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69162336 (GRCh38)
X:68382179 (GRCh37)
Canonical SPDI:: NC_000023.11:69162335:C:T
Gene:: PJA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69162336C>T, NC_000023.10:g.68382179C>T, NG_021258.1:g.8187G>A, NM_022368.5:c.339G>A, NM_022368.4:c.339G>A, NM_145119.4:c.903G>A, NM_145119.3:c.903G>A, NM_001032396.4:c.738G>A, NM_001032396.3:c.738G>A, NM_001032396.2:c.738G>A, NM_001382775.1:c.903G>A, NM_001382776.1:c.738G>A

Select item 146799804411.

rs1467998044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:69161668 (GRCh38)
X:68381511 (GRCh37)
Canonical SPDI:: NC_000023.11:69161667:G:A
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69161668G>A, NC_000023.10:g.68381511G>A, NG_021258.1:g.8855C>T, NM_022368.5:c.1007C>T, NM_022368.4:c.1007C>T, NM_145119.4:c.1571C>T, NM_145119.3:c.1571C>T, NM_001032396.4:c.1406C>T, NM_001032396.3:c.1406C>T, NM_001032396.2:c.1406C>T, NM_001382775.1:c.1571C>T, NM_001382776.1:c.1406C>T, NP_071763.2:p.Ala336Val, NP_660095.1:p.Ala524Val, NP_001027568.1:p.Ala469Val, NP_001369704.1:p.Ala524Val, NP_001369705.1:p.Ala469Val

Select item 146684047012.

rs1466840470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:69161404 (GRCh38)
X:68381247 (GRCh37)
Canonical SPDI:: NC_000023.11:69161403:G:A
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.69161404G>A, NC_000023.10:g.68381247G>A, NG_021258.1:g.9119C>T, NM_022368.5:c.1271C>T, NM_022368.4:c.1271C>T, NM_145119.4:c.1835C>T, NM_145119.3:c.1835C>T, NM_001032396.4:c.1670C>T, NM_001032396.3:c.1670C>T, NM_001032396.2:c.1670C>T, NM_001382775.1:c.1835C>T, NM_001382776.1:c.1670C>T, NP_071763.2:p.Pro424Leu, NP_660095.1:p.Pro612Leu, NP_001027568.1:p.Pro557Leu, NP_001369704.1:p.Pro612Leu, NP_001369705.1:p.Pro557Leu

Select item 146530736513.

rs1465307365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:69162539 (GRCh38)
X:68382382 (GRCh37)
Canonical SPDI:: NC_000023.11:69162538:T:C
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69162539T>C, NC_000023.10:g.68382382T>C, NG_021258.1:g.7984A>G, NM_145119.4:c.700A>G, NM_145119.3:c.700A>G, NM_001032396.4:c.535A>G, NM_001032396.3:c.535A>G, NM_001032396.2:c.535A>G, NM_001382775.1:c.700A>G, NM_001382776.1:c.535A>G, NP_660095.1:p.Ser234Gly, NP_001027568.1:p.Ser179Gly, NP_001369704.1:p.Ser234Gly, NP_001369705.1:p.Ser179Gly

Select item 146513090414.

rs1465130904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:69162865 (GRCh38)
X:68382708 (GRCh37)
Canonical SPDI:: NC_000023.11:69162864:T:A
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69162865T>A, NC_000023.10:g.68382708T>A, NG_021258.1:g.7658A>T, NM_145119.4:c.374A>T, NM_145119.3:c.374A>T, NM_001032396.4:c.209A>T, NM_001032396.3:c.209A>T, NM_001032396.2:c.209A>T, NM_001382775.1:c.374A>T, NM_001382776.1:c.209A>T, NP_660095.1:p.Asp125Val, NP_001027568.1:p.Asp70Val, NP_001369704.1:p.Asp125Val, NP_001369705.1:p.Asp70Val

Select item 146395474315.

rs1463954743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:69161945 (GRCh38)
X:68381788 (GRCh37)
Canonical SPDI:: NC_000023.11:69161944:T:C
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69161945T>C, NC_000023.10:g.68381788T>C, NG_021258.1:g.8578A>G, NM_022368.5:c.730A>G, NM_022368.4:c.730A>G, NM_145119.4:c.1294A>G, NM_145119.3:c.1294A>G, NM_001032396.4:c.1129A>G, NM_001032396.3:c.1129A>G, NM_001032396.2:c.1129A>G, NM_001382775.1:c.1294A>G, NM_001382776.1:c.1129A>G, NP_071763.2:p.Ser244Gly, NP_660095.1:p.Ser432Gly, NP_001027568.1:p.Ser377Gly, NP_001369704.1:p.Ser432Gly, NP_001369705.1:p.Ser377Gly

Select item 146373228216.

rs1463732282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69162994 (GRCh38)
X:68382837 (GRCh37)
Canonical SPDI:: NC_000023.11:69162993:C:T
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69162994C>T, NC_000023.10:g.68382837C>T, NG_021258.1:g.7529G>A, NM_022368.5:c.245G>A, NM_022368.4:c.245G>A, NM_145119.4:c.245G>A, NM_145119.3:c.245G>A, NM_001032396.4:c.80G>A, NM_001032396.3:c.80G>A, NM_001032396.2:c.80G>A, NM_001382775.1:c.245G>A, NM_001382776.1:c.80G>A, NP_071763.2:p.Ser82Asn, NP_660095.1:p.Ser82Asn, NP_001027568.1:p.Ser27Asn, NP_001369704.1:p.Ser82Asn, NP_001369705.1:p.Ser27Asn

Select item 146251509317.

rs1462515093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:69161537 (GRCh38)
X:68381380 (GRCh37)
Canonical SPDI:: NC_000023.11:69161536:G:C
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69161537G>C, NC_000023.10:g.68381380G>C, NG_021258.1:g.8986C>G, NM_022368.5:c.1138C>G, NM_022368.4:c.1138C>G, NM_145119.4:c.1702C>G, NM_145119.3:c.1702C>G, NM_001032396.4:c.1537C>G, NM_001032396.3:c.1537C>G, NM_001032396.2:c.1537C>G, NM_001382775.1:c.1702C>G, NM_001382776.1:c.1537C>G, NP_071763.2:p.Pro380Ala, NP_660095.1:p.Pro568Ala, NP_001027568.1:p.Pro513Ala, NP_001369704.1:p.Pro568Ala, NP_001369705.1:p.Pro513Ala

Select item 145822740618.

rs1458227406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:69162301 (GRCh38)
X:68382144 (GRCh37)
Canonical SPDI:: NC_000023.11:69162300:G:A
Gene:: PJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.69162301G>A, NC_000023.10:g.68382144G>A, NG_021258.1:g.8222C>T, NM_022368.5:c.374C>T, NM_022368.4:c.374C>T, NM_145119.4:c.938C>T, NM_145119.3:c.938C>T, NM_001032396.4:c.773C>T, NM_001032396.3:c.773C>T, NM_001032396.2:c.773C>T, NM_001382775.1:c.938C>T, NM_001382776.1:c.773C>T, NP_071763.2:p.Ser125Leu, NP_660095.1:p.Ser313Leu, NP_001027568.1:p.Ser258Leu, NP_001369704.1:p.Ser313Leu, NP_001369705.1:p.Ser258Leu

Select item 145323703419.

rs1453237034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69162561 (GRCh38)
X:68382404 (GRCh37)
Canonical SPDI:: NC_000023.11:69162560:C:T
Gene:: PJA1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69162561C>T, NC_000023.10:g.68382404C>T, NG_021258.1:g.7962G>A, NM_145119.4:c.678G>A, NM_145119.3:c.678G>A, NM_001032396.4:c.513G>A, NM_001032396.3:c.513G>A, NM_001032396.2:c.513G>A, NM_001382775.1:c.678G>A, NM_001382776.1:c.513G>A

Select item 145249442820.

rs1452494428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:69162333 (GRCh38)
X:68382176 (GRCh37)
Canonical SPDI:: NC_000023.11:69162332:A:T
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69162333A>T, NC_000023.10:g.68382176A>T, NG_021258.1:g.8190T>A, NM_022368.5:c.342T>A, NM_022368.4:c.342T>A, NM_145119.4:c.906T>A, NM_145119.3:c.906T>A, NM_001032396.4:c.741T>A, NM_001032396.3:c.741T>A, NM_001032396.2:c.741T>A, NM_001382775.1:c.906T>A, NM_001382776.1:c.741T>A, NP_071763.2:p.Asp114Glu, NP_660095.1:p.Asp302Glu, NP_001027568.1:p.Asp247Glu, NP_001369704.1:p.Asp302Glu, NP_001369705.1:p.Asp247Glu

dbSNP

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