SNP Links for Protein (Select 68077168) - SNP

Select item 14877669371.

rs1487766937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34933875 (GRCh38)
5:34933980 (GRCh37)
Canonical SPDI:: NC_000005.10:34933874:A:G
Gene:: DNAJC21 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.34933875A>G, NC_000005.9:g.34933980A>G, NG_052822.1:g.9336A>G, NM_194283.4:c.158A>G, NM_194283.3:c.158A>G, NM_001012339.3:c.158A>G, NM_001012339.2:c.158A>G, NM_001348420.2:c.158A>G, NM_001348420.1:c.158A>G, XM_005248250.4:c.419A>G, XM_005248250.3:c.419A>G, XM_005248250.2:c.158A>G, XM_005248250.1:c.158A>G, XM_011513965.3:c.419A>G, XM_011513965.2:c.419A>G, XM_011513965.1:c.158A>G, XM_011513966.3:c.419A>G, XM_011513966.2:c.419A>G, XM_011513966.1:c.158A>G, XM_047416722.1:c.-191A>G, XM_047416719.1:c.419A>G, XM_047416720.1:c.419A>G, NP_919259.3:p.Tyr53Cys, NP_001012339.2:p.Tyr53Cys, NP_001335349.1:p.Tyr53Cys, XP_005248307.2:p.Tyr140Cys, XP_011512267.2:p.Tyr140Cys, XP_011512268.2:p.Tyr140Cys, XP_047272675.1:p.Tyr140Cys, XP_047272676.1:p.Tyr140Cys

Select item 14868691492.

rs1486869149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34954711 (GRCh38)
5:34954816 (GRCh37)
Canonical SPDI:: NC_000005.10:34954710:A:G
Gene:: DNAJC21 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.34954711A>G, NC_000005.9:g.34954816A>G, NG_052822.1:g.30172A>G, NM_194283.4:c.1728A>G, NM_194283.3:c.1728A>G, NM_001012339.3:c.1593A>G, NM_001012339.2:c.1593A>G, NM_001348420.2:c.1632A>G, NM_001348420.1:c.1632A>G, XM_011513965.3:c.2028A>G, XM_011513965.2:c.2028A>G, XM_011513965.1:c.1767A>G, XM_047416722.1:c.1419A>G

Select item 14821267933.

rs1482126793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:34937589 (GRCh38)
5:34937694 (GRCh37)
Canonical SPDI:: NC_000005.10:34937588:A:T
Gene:: DNAJC21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34937589A>T, NC_000005.9:g.34937694A>T, NG_052822.1:g.13050A>T, NM_194283.4:c.702A>T, NM_194283.3:c.702A>T, NM_001012339.3:c.702A>T, NM_001012339.2:c.702A>T, NM_001348420.2:c.702A>T, NM_001348420.1:c.702A>T, XM_005248250.4:c.963A>T, XM_005248250.3:c.963A>T, XM_005248250.2:c.702A>T, XM_005248250.1:c.702A>T, XM_011513965.3:c.963A>T, XM_011513965.2:c.963A>T, XM_011513965.1:c.702A>T, XM_011513966.3:c.963A>T, XM_011513966.2:c.963A>T, XM_011513966.1:c.702A>T, XM_047416722.1:c.354A>T, XM_047416719.1:c.963A>T, XM_047416720.1:c.963A>T, NP_919259.3:p.Lys234Asn, NP_001012339.2:p.Lys234Asn, NP_001335349.1:p.Lys234Asn, XP_005248307.2:p.Lys321Asn, XP_011512267.2:p.Lys321Asn, XP_011512268.2:p.Lys321Asn, XP_047272678.1:p.Lys118Asn, XP_047272675.1:p.Lys321Asn, XP_047272676.1:p.Lys321Asn

Select item 14806880484.

rs1480688048 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 5:34949630 (GRCh38)
5:34949736 (GRCh37)
Canonical SPDI:: NC_000005.10:34949630:GAGAGAG:GAGAGAGAG
Gene:: DNAJC21 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: GA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34949632AG[4], NC_000005.9:g.34949737AG[4], NG_052822.1:g.25093AG[4], NM_194283.4:c.1279_1280dup, NM_194283.3:c.1279_1280dup, XM_011513965.3:c.1579_1580dup, XM_011513965.2:c.1579_1580dup, XM_011513965.1:c.1318_1319dup, XM_011513966.3:c.1579_1580dup, XM_011513966.2:c.1579_1580dup, XM_011513966.1:c.1318_1319dup, XM_047416722.1:c.970_971dup, XM_047416719.1:c.1540_1541dup, NP_919259.3:p.Ser427fs, XP_011512267.2:p.Ser527fs, XP_011512268.2:p.Ser527fs, XP_047272678.1:p.Ser324fs, XP_047272675.1:p.Ser514fs

Select item 14773616605.

rs1477361660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34937461 (GRCh38)
5:34937566 (GRCh37)
Canonical SPDI:: NC_000005.10:34937460:C:T
Gene:: DNAJC21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34937461C>T, NC_000005.9:g.34937566C>T, NG_052822.1:g.12922C>T, NM_194283.4:c.574C>T, NM_194283.3:c.574C>T, NM_001012339.3:c.574C>T, NM_001012339.2:c.574C>T, NM_001348420.2:c.574C>T, NM_001348420.1:c.574C>T, XM_005248250.4:c.835C>T, XM_005248250.3:c.835C>T, XM_005248250.2:c.574C>T, XM_005248250.1:c.574C>T, XM_011513965.3:c.835C>T, XM_011513965.2:c.835C>T, XM_011513965.1:c.574C>T, XM_011513966.3:c.835C>T, XM_011513966.2:c.835C>T, XM_011513966.1:c.574C>T, XM_047416722.1:c.226C>T, XM_047416719.1:c.835C>T, XM_047416720.1:c.835C>T, NP_919259.3:p.Arg192Trp, NP_001012339.2:p.Arg192Trp, NP_001335349.1:p.Arg192Trp, XP_005248307.2:p.Arg279Trp, XP_011512267.2:p.Arg279Trp, XP_011512268.2:p.Arg279Trp, XP_047272678.1:p.Arg76Trp, XP_047272675.1:p.Arg279Trp, XP_047272676.1:p.Arg279Trp

Select item 14751383056.

rs1475138305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34950206 (GRCh38)
5:34950311 (GRCh37)
Canonical SPDI:: NC_000005.10:34950205:G:A
Gene:: DNAJC21 (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_000005.10:g.34950206G>A, NC_000005.9:g.34950311G>A, NG_052822.1:g.25667G>A, NM_194283.4:c.1357G>A, NM_194283.3:c.1357G>A, NM_001012339.3:c.1222G>A, NM_001012339.2:c.1222G>A, NM_001348420.2:c.1261G>A, NM_001348420.1:c.1261G>A, XM_005248250.4:c.1522G>A, XM_005248250.3:c.1522G>A, XM_005248250.2:c.1261G>A, XM_005248250.1:c.1261G>A, XM_011513965.3:c.1657G>A, XM_011513965.2:c.1657G>A, XM_011513965.1:c.1396G>A, XM_011513966.3:c.1657G>A, XM_011513966.2:c.1657G>A, XM_011513966.1:c.1396G>A, XM_047416722.1:c.1048G>A, XM_047416719.1:c.1618G>A, XM_047416720.1:c.1483G>A, NP_919259.3:p.Glu453Lys, NP_001012339.2:p.Glu408Lys, NP_001335349.1:p.Glu421Lys, XP_005248307.2:p.Glu508Lys, XP_011512267.2:p.Glu553Lys, XP_011512268.2:p.Glu553Lys, XP_047272678.1:p.Glu350Lys, XP_047272675.1:p.Glu540Lys, XP_047272676.1:p.Glu495Lys

Select item 14684044267.

rs1468404426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34954666 (GRCh38)
5:34954771 (GRCh37)
Canonical SPDI:: NC_000005.10:34954665:C:T
Gene:: DNAJC21 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34954666C>T, NC_000005.9:g.34954771C>T, NG_052822.1:g.30127C>T, NM_194283.4:c.1683C>T, NM_194283.3:c.1683C>T, NM_001012339.3:c.1548C>T, NM_001012339.2:c.1548C>T, NM_001348420.2:c.1587C>T, NM_001348420.1:c.1587C>T, XM_011513965.3:c.1983C>T, XM_011513965.2:c.1983C>T, XM_011513965.1:c.1722C>T, XM_047416722.1:c.1374C>T

Select item 14682337808.

rs1468233780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34949549 (GRCh38)
5:34949654 (GRCh37)
Canonical SPDI:: NC_000005.10:34949548:C:T
Gene:: DNAJC21 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34949549C>T, NC_000005.9:g.34949654C>T, NG_052822.1:g.25010C>T, NM_194283.4:c.1192C>T, NM_194283.3:c.1192C>T, XM_011513965.3:c.1492C>T, XM_011513965.2:c.1492C>T, XM_011513965.1:c.1231C>T, XM_011513966.3:c.1492C>T, XM_011513966.2:c.1492C>T, XM_011513966.1:c.1231C>T, XM_047416722.1:c.883C>T, XM_047416719.1:c.1453C>T, NP_919259.3:p.Pro398Ser, XP_011512267.2:p.Pro498Ser, XP_011512268.2:p.Pro498Ser, XP_047272678.1:p.Pro295Ser, XP_047272675.1:p.Pro485Ser

Select item 14662405309.

rs1466240530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34929914 (GRCh38)
5:34930019 (GRCh37)
Canonical SPDI:: NC_000005.10:34929913:C:T
Gene:: DNAJC21 (Varview), LOC124900961 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000005.10:g.34929914C>T, NC_000005.9:g.34930019C>T, NG_052822.1:g.5375C>T, NM_194283.4:c.95C>T, NM_194283.3:c.95C>T, NM_001012339.3:c.95C>T, NM_001012339.2:c.95C>T, NM_001348420.2:c.95C>T, NM_001348420.1:c.95C>T, XM_005248250.4:c.356C>T, XM_005248250.3:c.356C>T, XM_005248250.2:c.95C>T, XM_005248250.1:c.95C>T, XM_011513965.3:c.356C>T, XM_011513965.2:c.356C>T, XM_011513965.1:c.95C>T, XM_011513966.3:c.356C>T, XM_011513966.2:c.356C>T, XM_011513966.1:c.95C>T, XM_047416722.1:c.-699C>T, XM_047416719.1:c.356C>T, XM_047416720.1:c.356C>T, NP_919259.3:p.Pro32Leu, NP_001012339.2:p.Pro32Leu, NP_001335349.1:p.Pro32Leu, XP_005248307.2:p.Pro119Leu, XP_011512267.2:p.Pro119Leu, XP_011512268.2:p.Pro119Leu, XP_047272675.1:p.Pro119Leu, XP_047272676.1:p.Pro119Leu

Select item 145887867210.

rs1458878672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34954632 (GRCh38)
5:34954737 (GRCh37)
Canonical SPDI:: NC_000005.10:34954631:G:A
Gene:: DNAJC21 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34954632G>A, NC_000005.9:g.34954737G>A, NG_052822.1:g.30093G>A, NM_194283.4:c.1649G>A, NM_194283.3:c.1649G>A, NM_001012339.3:c.1514G>A, NM_001012339.2:c.1514G>A, NM_001348420.2:c.1553G>A, NM_001348420.1:c.1553G>A, XM_011513965.3:c.1949G>A, XM_011513965.2:c.1949G>A, XM_011513965.1:c.1688G>A, XM_047416722.1:c.1340G>A, NP_919259.3:p.Gly550Asp, NP_001012339.2:p.Gly505Asp, NP_001335349.1:p.Gly518Asp, XP_011512267.2:p.Gly650Asp, XP_047272678.1:p.Gly447Asp

Select item 145460220511.

rs1454602205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34944880 (GRCh38)
5:34944985 (GRCh37)
Canonical SPDI:: NC_000005.10:34944879:G:A
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.34944880G>A, NC_000005.9:g.34944985G>A, NG_052822.1:g.20341G>A, NM_194283.4:c.997G>A, NM_194283.3:c.997G>A, NM_001012339.3:c.997G>A, NM_001012339.2:c.997G>A, NM_001348420.2:c.997G>A, NM_001348420.1:c.997G>A, XM_005248250.4:c.1258G>A, XM_005248250.3:c.1258G>A, XM_005248250.2:c.997G>A, XM_005248250.1:c.997G>A, XM_011513965.3:c.1258G>A, XM_011513965.2:c.1258G>A, XM_011513965.1:c.997G>A, XM_011513966.3:c.1258G>A, XM_011513966.2:c.1258G>A, XM_011513966.1:c.997G>A, XM_047416722.1:c.649G>A, XM_047416719.1:c.1258G>A, XM_047416720.1:c.1258G>A, NP_919259.3:p.Glu333Lys, NP_001012339.2:p.Glu333Lys, NP_001335349.1:p.Glu333Lys, XP_005248307.2:p.Glu420Lys, XP_011512267.2:p.Glu420Lys, XP_011512268.2:p.Glu420Lys, XP_047272678.1:p.Glu217Lys, XP_047272675.1:p.Glu420Lys, XP_047272676.1:p.Glu420Lys

Select item 145429195012.

rs1454291950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34944894 (GRCh38)
5:34944999 (GRCh37)
Canonical SPDI:: NC_000005.10:34944893:G:A
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34944894G>A, NC_000005.9:g.34944999G>A, NG_052822.1:g.20355G>A, NM_194283.4:c.1011G>A, NM_194283.3:c.1011G>A, NM_001012339.3:c.1011G>A, NM_001012339.2:c.1011G>A, NM_001348420.2:c.1011G>A, NM_001348420.1:c.1011G>A, XM_005248250.4:c.1272G>A, XM_005248250.3:c.1272G>A, XM_005248250.2:c.1011G>A, XM_005248250.1:c.1011G>A, XM_011513965.3:c.1272G>A, XM_011513965.2:c.1272G>A, XM_011513965.1:c.1011G>A, XM_011513966.3:c.1272G>A, XM_011513966.2:c.1272G>A, XM_011513966.1:c.1011G>A, XM_047416722.1:c.663G>A, XM_047416719.1:c.1272G>A, XM_047416720.1:c.1272G>A

Select item 145183247813.

rs1451832478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34937454 (GRCh38)
5:34937559 (GRCh37)
Canonical SPDI:: NC_000005.10:34937453:A:G
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34937454A>G, NC_000005.9:g.34937559A>G, NG_052822.1:g.12915A>G, NM_194283.4:c.567A>G, NM_194283.3:c.567A>G, NM_001012339.3:c.567A>G, NM_001012339.2:c.567A>G, NM_001348420.2:c.567A>G, NM_001348420.1:c.567A>G, XM_005248250.4:c.828A>G, XM_005248250.3:c.828A>G, XM_005248250.2:c.567A>G, XM_005248250.1:c.567A>G, XM_011513965.3:c.828A>G, XM_011513965.2:c.828A>G, XM_011513965.1:c.567A>G, XM_011513966.3:c.828A>G, XM_011513966.2:c.828A>G, XM_011513966.1:c.567A>G, XM_047416722.1:c.219A>G, XM_047416719.1:c.828A>G, XM_047416720.1:c.828A>G

Select item 145132629814.

rs1451326298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:34933836 (GRCh38)
5:34933941 (GRCh37)
Canonical SPDI:: NC_000005.10:34933835:C:A,NC_000005.10:34933835:C:T
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.34933836C>A, NC_000005.10:g.34933836C>T, NC_000005.9:g.34933941C>A, NC_000005.9:g.34933941C>T, NG_052822.1:g.9297C>A, NG_052822.1:g.9297C>T, NM_194283.4:c.119C>A, NM_194283.4:c.119C>T, NM_194283.3:c.119C>A, NM_194283.3:c.119C>T, NM_001012339.3:c.119C>A, NM_001012339.3:c.119C>T, NM_001012339.2:c.119C>A, NM_001012339.2:c.119C>T, NM_001348420.2:c.119C>A, NM_001348420.2:c.119C>T, NM_001348420.1:c.119C>A, NM_001348420.1:c.119C>T, XM_005248250.4:c.380C>A, XM_005248250.4:c.380C>T, XM_005248250.3:c.380C>A, XM_005248250.3:c.380C>T, XM_005248250.2:c.119C>A, XM_005248250.2:c.119C>T, XM_005248250.1:c.119C>A, XM_005248250.1:c.119C>T, XM_011513965.3:c.380C>A, XM_011513965.3:c.380C>T, XM_011513965.2:c.380C>A, XM_011513965.2:c.380C>T, XM_011513965.1:c.119C>A, XM_011513965.1:c.119C>T, XM_011513966.3:c.380C>A, XM_011513966.3:c.380C>T, XM_011513966.2:c.380C>A, XM_011513966.2:c.380C>T, XM_011513966.1:c.119C>A, XM_011513966.1:c.119C>T, XM_047416722.1:c.-230C>A, XM_047416722.1:c.-230C>T, XM_047416719.1:c.380C>A, XM_047416719.1:c.380C>T, XM_047416720.1:c.380C>A, XM_047416720.1:c.380C>T, NP_919259.3:p.Ala40Glu, NP_919259.3:p.Ala40Val, NP_001012339.2:p.Ala40Glu, NP_001012339.2:p.Ala40Val, NP_001335349.1:p.Ala40Glu, NP_001335349.1:p.Ala40Val, XP_005248307.2:p.Ala127Glu, XP_005248307.2:p.Ala127Val, XP_011512267.2:p.Ala127Glu, XP_011512267.2:p.Ala127Val, XP_011512268.2:p.Ala127Glu, XP_011512268.2:p.Ala127Val, XP_047272675.1:p.Ala127Glu, XP_047272675.1:p.Ala127Val, XP_047272676.1:p.Ala127Glu, XP_047272676.1:p.Ala127Val

Select item 145074965415.

rs1450749654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34950278 (GRCh38)
5:34950383 (GRCh37)
Canonical SPDI:: NC_000005.10:34950277:C:T
Gene:: DNAJC21 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.34950278C>T, NC_000005.9:g.34950383C>T, NG_052822.1:g.25739C>T, NM_194283.4:c.1429C>T, NM_194283.3:c.1429C>T, NM_001012339.3:c.1294C>T, NM_001012339.2:c.1294C>T, NM_001348420.2:c.1333C>T, NM_001348420.1:c.1333C>T, XM_005248250.4:c.1594C>T, XM_005248250.3:c.1594C>T, XM_005248250.2:c.1333C>T, XM_005248250.1:c.1333C>T, XM_011513965.3:c.1729C>T, XM_011513965.2:c.1729C>T, XM_011513965.1:c.1468C>T, XM_011513966.3:c.1729C>T, XM_011513966.2:c.1729C>T, XM_011513966.1:c.1468C>T, XM_047416722.1:c.1120C>T, XM_047416719.1:c.1690C>T, XM_047416720.1:c.1555C>T, NP_919259.3:p.Gln477Ter, NP_001012339.2:p.Gln432Ter, NP_001335349.1:p.Gln445Ter, XP_005248307.2:p.Gln532Ter, XP_011512267.2:p.Gln577Ter, XP_011512268.2:p.Gln577Ter, XP_047272678.1:p.Gln374Ter, XP_047272675.1:p.Gln564Ter, XP_047272676.1:p.Gln519Ter

Select item 144898401116.

rs1448984011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34954637 (GRCh38)
5:34954742 (GRCh37)
Canonical SPDI:: NC_000005.10:34954636:G:A
Gene:: DNAJC21 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.34954637G>A, NC_000005.9:g.34954742G>A, NG_052822.1:g.30098G>A, NM_194283.4:c.1654G>A, NM_194283.3:c.1654G>A, NM_001012339.3:c.1519G>A, NM_001012339.2:c.1519G>A, NM_001348420.2:c.1558G>A, NM_001348420.1:c.1558G>A, XM_011513965.3:c.1954G>A, XM_011513965.2:c.1954G>A, XM_011513965.1:c.1693G>A, XM_047416722.1:c.1345G>A, NP_919259.3:p.Ala552Thr, NP_001012339.2:p.Ala507Thr, NP_001335349.1:p.Ala520Thr, XP_011512267.2:p.Ala652Thr, XP_047272678.1:p.Ala449Thr

Select item 144790714817.

rs1447907148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34941150 (GRCh38)
5:34941255 (GRCh37)
Canonical SPDI:: NC_000005.10:34941149:C:T
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.34941150C>T, NC_000005.9:g.34941255C>T, NG_052822.1:g.16611C>T, NM_194283.4:c.950C>T, NM_194283.3:c.950C>T, NM_001012339.3:c.950C>T, NM_001012339.2:c.950C>T, NM_001348420.2:c.950C>T, NM_001348420.1:c.950C>T, XM_005248250.4:c.1211C>T, XM_005248250.3:c.1211C>T, XM_005248250.2:c.950C>T, XM_005248250.1:c.950C>T, XM_011513965.3:c.1211C>T, XM_011513965.2:c.1211C>T, XM_011513965.1:c.950C>T, XM_011513966.3:c.1211C>T, XM_011513966.2:c.1211C>T, XM_011513966.1:c.950C>T, XM_047416722.1:c.602C>T, XM_047416719.1:c.1211C>T, XM_047416720.1:c.1211C>T, NP_919259.3:p.Pro317Leu, NP_001012339.2:p.Pro317Leu, NP_001335349.1:p.Pro317Leu, XP_005248307.2:p.Pro404Leu, XP_011512267.2:p.Pro404Leu, XP_011512268.2:p.Pro404Leu, XP_047272678.1:p.Pro201Leu, XP_047272675.1:p.Pro404Leu, XP_047272676.1:p.Pro404Leu

Select item 144658954018.

rs1446589540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34937594 (GRCh38)
5:34937699 (GRCh37)
Canonical SPDI:: NC_000005.10:34937593:A:G
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34937594A>G, NC_000005.9:g.34937699A>G, NG_052822.1:g.13055A>G, NM_194283.4:c.707A>G, NM_194283.3:c.707A>G, NM_001012339.3:c.707A>G, NM_001012339.2:c.707A>G, NM_001348420.2:c.707A>G, NM_001348420.1:c.707A>G, XM_005248250.4:c.968A>G, XM_005248250.3:c.968A>G, XM_005248250.2:c.707A>G, XM_005248250.1:c.707A>G, XM_011513965.3:c.968A>G, XM_011513965.2:c.968A>G, XM_011513965.1:c.707A>G, XM_011513966.3:c.968A>G, XM_011513966.2:c.968A>G, XM_011513966.1:c.707A>G, XM_047416722.1:c.359A>G, XM_047416719.1:c.968A>G, XM_047416720.1:c.968A>G, NP_919259.3:p.Glu236Gly, NP_001012339.2:p.Glu236Gly, NP_001335349.1:p.Glu236Gly, XP_005248307.2:p.Glu323Gly, XP_011512267.2:p.Glu323Gly, XP_011512268.2:p.Glu323Gly, XP_047272678.1:p.Glu120Gly, XP_047272675.1:p.Glu323Gly, XP_047272676.1:p.Glu323Gly

Select item 144561240819.

rs1445612408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34945800 (GRCh38)
5:34945905 (GRCh37)
Canonical SPDI:: NC_000005.10:34945799:A:G
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34945800A>G, NC_000005.9:g.34945905A>G, NG_052822.1:g.21261A>G, NM_194283.4:c.1182A>G, NM_194283.3:c.1182A>G, NM_001012339.3:c.1182A>G, NM_001012339.2:c.1182A>G, NM_001348420.2:c.1221A>G, NM_001348420.1:c.1221A>G, XM_005248250.4:c.1482A>G, XM_005248250.3:c.1482A>G, XM_005248250.2:c.1221A>G, XM_005248250.1:c.1221A>G, XM_011513965.3:c.1482A>G, XM_011513965.2:c.1482A>G, XM_011513965.1:c.1221A>G, XM_011513966.3:c.1482A>G, XM_011513966.2:c.1482A>G, XM_011513966.1:c.1221A>G, XM_047416722.1:c.873A>G, XM_047416719.1:c.1443A>G, XM_047416720.1:c.1443A>G

Select item 144428723520.

rs1444287235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:34936228 (GRCh38)
5:34936333 (GRCh37)
Canonical SPDI:: NC_000005.10:34936227:T:A
Gene:: DNAJC21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000005.10:g.34936228T>A, NC_000005.9:g.34936333T>A, NG_052822.1:g.11689T>A, NM_194283.4:c.400T>A, NM_194283.3:c.400T>A, NM_001012339.3:c.400T>A, NM_001012339.2:c.400T>A, NM_001348420.2:c.400T>A, NM_001348420.1:c.400T>A, XM_005248250.4:c.661T>A, XM_005248250.3:c.661T>A, XM_005248250.2:c.400T>A, XM_005248250.1:c.400T>A, XM_011513965.3:c.661T>A, XM_011513965.2:c.661T>A, XM_011513965.1:c.400T>A, XM_011513966.3:c.661T>A, XM_011513966.2:c.661T>A, XM_011513966.1:c.400T>A, XM_047416722.1:c.52T>A, XM_047416719.1:c.661T>A, XM_047416720.1:c.661T>A, NP_919259.3:p.Phe134Ile, NP_001012339.2:p.Phe134Ile, NP_001335349.1:p.Phe134Ile, XP_005248307.2:p.Phe221Ile, XP_011512267.2:p.Phe221Ile, XP_011512268.2:p.Phe221Ile, XP_047272678.1:p.Phe18Ile, XP_047272675.1:p.Phe221Ile, XP_047272676.1:p.Phe221Ile

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Result Filters

Clinical Significance

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