SNP Links for Protein (Select 1239562539) - SNP

Links from Protein

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Select item 14892770861.

rs1489277086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:40764954 (GRCh38)
5:40765056 (GRCh37)
Canonical SPDI:: NC_000005.10:40764953:C:T
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40764954C>T, NC_000005.9:g.40765056C>T, NM_006251.6:c.1106G>A, NM_006251.5:c.1106G>A, NM_206907.4:c.1151G>A, NM_206907.3:c.1151G>A, NM_001355028.2:c.1028G>A, NM_001355028.1:c.1028G>A, XM_017009624.2:c.1073G>A, XM_017009624.1:c.1073G>A, NM_001355037.2:c.332G>A, NM_001355037.1:c.332G>A, NM_001355035.2:c.332G>A, NM_001355035.1:c.332G>A, NM_001355029.2:c.674G>A, NM_001355029.1:c.674G>A, NM_001355036.2:c.332G>A, NM_001355036.1:c.332G>A, NP_006242.5:p.Arg369Gln, NP_996790.3:p.Arg384Gln, NP_001341957.1:p.Arg343Gln, XP_016865113.1:p.Arg358Gln, NP_001341966.1:p.Arg111Gln, NP_001341964.1:p.Arg111Gln, NP_001341958.1:p.Arg225Gln, NP_001341965.1:p.Arg111Gln

Select item 14891294142.

rs1489129414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:40764580 (GRCh38)
5:40764682 (GRCh37)
Canonical SPDI:: NC_000005.10:40764579:T:G
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40764580T>G, NC_000005.9:g.40764682T>G, NM_006251.6:c.1369A>C, NM_006251.5:c.1369A>C, NM_206907.4:c.1414A>C, NM_206907.3:c.1414A>C, NM_001355028.2:c.1291A>C, NM_001355028.1:c.1291A>C, XM_017009624.2:c.1336A>C, XM_017009624.1:c.1336A>C, NM_001355037.2:c.595A>C, NM_001355037.1:c.595A>C, NM_001355035.2:c.595A>C, NM_001355035.1:c.595A>C, NM_001355029.2:c.937A>C, NM_001355029.1:c.937A>C, NM_001355036.2:c.595A>C, NM_001355036.1:c.595A>C, NP_006242.5:p.Lys457Gln, NP_996790.3:p.Lys472Gln, NP_001341957.1:p.Lys431Gln, XP_016865113.1:p.Lys446Gln, NP_001341966.1:p.Lys199Gln, NP_001341964.1:p.Lys199Gln, NP_001341958.1:p.Lys313Gln, NP_001341965.1:p.Lys199Gln

Select item 14863825153.

rs1486382515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:40765028 (GRCh38)
5:40765130 (GRCh37)
Canonical SPDI:: NC_000005.10:40765027:T:A
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40765028T>A, NC_000005.9:g.40765130T>A, NM_006251.6:c.1032A>T, NM_006251.5:c.1032A>T, NM_206907.4:c.1077A>T, NM_206907.3:c.1077A>T, NM_001355028.2:c.954A>T, NM_001355028.1:c.954A>T, XM_017009624.2:c.999A>T, XM_017009624.1:c.999A>T, NM_001355037.2:c.258A>T, NM_001355037.1:c.258A>T, NM_001355035.2:c.258A>T, NM_001355035.1:c.258A>T, NM_001355029.2:c.600A>T, NM_001355029.1:c.600A>T, NM_001355036.2:c.258A>T, NM_001355036.1:c.258A>T

Select item 14816426754.

rs1481642675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:40762850 (GRCh38)
5:40762952 (GRCh37)
Canonical SPDI:: NC_000005.10:40762849:A:G
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40762850A>G, NC_000005.9:g.40762952A>G, NM_006251.6:c.1608T>C, NM_006251.5:c.1608T>C, NM_206907.4:c.1653T>C, NM_206907.3:c.1653T>C, NM_001355028.2:c.1530T>C, NM_001355028.1:c.1530T>C, XM_017009624.2:c.1575T>C, XM_017009624.1:c.1575T>C, NM_001355037.2:c.834T>C, NM_001355037.1:c.834T>C, NM_001355035.2:c.834T>C, NM_001355035.1:c.834T>C, NM_001355029.2:c.1176T>C, NM_001355029.1:c.1176T>C, NM_001355036.2:c.834T>C, NM_001355036.1:c.834T>C

Select item 14796855265.

rs1479685526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:40765213 (GRCh38)
5:40765315 (GRCh37)
Canonical SPDI:: NC_000005.10:40765212:G:T
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40765213G>T, NC_000005.9:g.40765315G>T, NM_006251.6:c.847C>A, NM_006251.5:c.847C>A, NM_206907.4:c.892C>A, NM_206907.3:c.892C>A, NM_001355028.2:c.769C>A, NM_001355028.1:c.769C>A, XM_017009624.2:c.814C>A, XM_017009624.1:c.814C>A, NM_001355037.2:c.73C>A, NM_001355037.1:c.73C>A, NM_001355035.2:c.73C>A, NM_001355035.1:c.73C>A, NM_001355029.2:c.415C>A, NM_001355029.1:c.415C>A, NM_001355036.2:c.73C>A, NM_001355036.1:c.73C>A, NP_006242.5:p.Leu283Ile, NP_996790.3:p.Leu298Ile, NP_001341957.1:p.Leu257Ile, XP_016865113.1:p.Leu272Ile, NP_001341966.1:p.Leu25Ile, NP_001341964.1:p.Leu25Ile, NP_001341958.1:p.Leu139Ile, NP_001341965.1:p.Leu25Ile

Select item 14784865766.

rs1478486576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:40767566 (GRCh38)
5:40767668 (GRCh37)
Canonical SPDI:: NC_000005.10:40767565:T:A
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40767566T>A, NC_000005.9:g.40767668T>A, NM_006251.6:c.721A>T, NM_006251.5:c.721A>T, NM_206907.4:c.766A>T, NM_206907.3:c.766A>T, NM_001355028.2:c.643A>T, NM_001355028.1:c.643A>T, XM_017009624.2:c.688A>T, XM_017009624.1:c.688A>T, NM_001355037.2:c.-54A>T, NM_001355037.1:c.-54A>T, NM_001355035.2:c.-54A>T, NM_001355035.1:c.-54A>T, NM_001355029.2:c.289A>T, NM_001355029.1:c.289A>T, NM_001355036.2:c.-54A>T, NM_001355036.1:c.-54A>T, NP_006242.5:p.Ile241Phe, NP_996790.3:p.Ile256Phe, NP_001341957.1:p.Ile215Phe, XP_016865113.1:p.Ile230Phe, NP_001341958.1:p.Ile97Phe

Select item 14747405497.

rs1474740549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:40767466 (GRCh38)
5:40767568 (GRCh37)
Canonical SPDI:: NC_000005.10:40767465:C:T
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.40767466C>T, NC_000005.9:g.40767568C>T, NM_006251.6:c.821G>A, NM_006251.5:c.821G>A, NM_206907.4:c.866G>A, NM_206907.3:c.866G>A, NM_001355028.2:c.743G>A, NM_001355028.1:c.743G>A, XM_017009624.2:c.788G>A, XM_017009624.1:c.788G>A, NM_001355037.2:c.47G>A, NM_001355037.1:c.47G>A, NM_001355035.2:c.47G>A, NM_001355035.1:c.47G>A, NM_001355029.2:c.389G>A, NM_001355029.1:c.389G>A, NM_001355036.2:c.47G>A, NM_001355036.1:c.47G>A, NP_006242.5:p.Arg274Lys, NP_996790.3:p.Arg289Lys, NP_001341957.1:p.Arg248Lys, XP_016865113.1:p.Arg263Lys, NP_001341966.1:p.Arg16Lys, NP_001341964.1:p.Arg16Lys, NP_001341958.1:p.Arg130Lys, NP_001341965.1:p.Arg16Lys

Select item 14743407598.

rs1474340759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:40767555 (GRCh38)
5:40767657 (GRCh37)
Canonical SPDI:: NC_000005.10:40767554:G:T
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40767555G>T, NC_000005.9:g.40767657G>T, NM_006251.6:c.732C>A, NM_006251.5:c.732C>A, NM_206907.4:c.777C>A, NM_206907.3:c.777C>A, NM_001355028.2:c.654C>A, NM_001355028.1:c.654C>A, XM_017009624.2:c.699C>A, XM_017009624.1:c.699C>A, NM_001355037.2:c.-43C>A, NM_001355037.1:c.-43C>A, NM_001355035.2:c.-43C>A, NM_001355035.1:c.-43C>A, NM_001355029.2:c.300C>A, NM_001355029.1:c.300C>A, NM_001355036.2:c.-43C>A, NM_001355036.1:c.-43C>A

Select item 14731800489.

rs1473180048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:40769439 (GRCh38)
5:40769541 (GRCh37)
Canonical SPDI:: NC_000005.10:40769438:A:G
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.40769439A>G, NC_000005.9:g.40769541A>G, NM_006251.6:c.573T>C, NM_006251.5:c.573T>C, NM_206907.4:c.618T>C, NM_206907.3:c.618T>C, NM_001355028.2:c.495T>C, NM_001355028.1:c.495T>C, XM_017009624.2:c.540T>C, XM_017009624.1:c.540T>C, NM_001355029.2:c.141T>C, NM_001355029.1:c.141T>C, NM_001355034.2:c.573T>C, NM_001355034.1:c.573T>C

Select item 147296433010.

rs1472964330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:40769492 (GRCh38)
5:40769594 (GRCh37)
Canonical SPDI:: NC_000005.10:40769491:T:C
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40769492T>C, NC_000005.9:g.40769594T>C, NM_006251.6:c.520A>G, NM_006251.5:c.520A>G, NM_206907.4:c.565A>G, NM_206907.3:c.565A>G, NM_001355028.2:c.442A>G, NM_001355028.1:c.442A>G, XM_017009624.2:c.487A>G, XM_017009624.1:c.487A>G, NM_001355029.2:c.88A>G, NM_001355029.1:c.88A>G, NM_001355034.2:c.520A>G, NM_001355034.1:c.520A>G, NP_006242.5:p.Met174Val, NP_996790.3:p.Met189Val, NP_001341957.1:p.Met148Val, XP_016865113.1:p.Met163Val, NP_001341958.1:p.Met30Val, NP_001341963.1:p.Met174Val

Select item 147293012911.

rs1472930129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:40777483 (GRCh38)
5:40777585 (GRCh37)
Canonical SPDI:: NC_000005.10:40777482:C:T
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.40777483C>T, NC_000005.9:g.40777585C>T, NM_006251.6:c.231G>A, NM_006251.5:c.231G>A, NM_206907.4:c.231G>A, NM_206907.3:c.231G>A, NM_001355028.2:c.153G>A, NM_001355028.1:c.153G>A, XM_017009624.2:c.153G>A, XM_017009624.1:c.153G>A, NM_001355037.2:c.-501G>A, NM_001355037.1:c.-501G>A, NM_001355035.2:c.-456G>A, NM_001355035.1:c.-456G>A, NM_001355029.2:c.-108G>A, NM_001355029.1:c.-108G>A, NM_001355034.2:c.231G>A, NM_001355034.1:c.231G>A

Select item 146947628112.

rs1469476281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:40780037 (GRCh38)
5:40780139 (GRCh37)
Canonical SPDI:: NC_000005.10:40780036:T:A,NC_000005.10:40780036:T:C
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.40780037T>A, NC_000005.10:g.40780037T>C, NC_000005.9:g.40780139T>A, NC_000005.9:g.40780139T>C, NM_001355028.2:c.45A>T, NM_001355028.2:c.45A>G, NM_001355028.1:c.45A>T, NM_001355028.1:c.45A>G, XM_017009624.2:c.45A>T, XM_017009624.2:c.45A>G, XM_017009624.1:c.45A>T, XM_017009624.1:c.45A>G, NP_001341957.1:p.Gln15His, XP_016865113.1:p.Gln15His

Select item 146796893213.

rs1467968932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:40775503 (GRCh38)
5:40775605 (GRCh37)
Canonical SPDI:: NC_000005.10:40775502:C:G
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.40775503C>G, NC_000005.9:g.40775605C>G, NM_006251.6:c.270G>C, NM_006251.5:c.270G>C, NM_206907.4:c.270G>C, NM_206907.3:c.270G>C, NM_001355028.2:c.192G>C, NM_001355028.1:c.192G>C, XM_017009624.2:c.192G>C, XM_017009624.1:c.192G>C, NM_001355037.2:c.-462G>C, NM_001355037.1:c.-462G>C, NM_001355035.2:c.-417G>C, NM_001355035.1:c.-417G>C, NM_001355036.2:c.-417G>C, NM_001355036.1:c.-417G>C, NM_001355034.2:c.270G>C, NM_001355034.1:c.270G>C

Select item 146630312014.

rs1466303120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:40767690 (GRCh38)
5:40767792 (GRCh37)
Canonical SPDI:: NC_000005.10:40767689:T:C
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.40767690T>C, NC_000005.9:g.40767792T>C, NM_006251.6:c.597A>G, NM_006251.5:c.597A>G, NM_206907.4:c.642A>G, NM_206907.3:c.642A>G, NM_001355028.2:c.519A>G, NM_001355028.1:c.519A>G, XM_017009624.2:c.564A>G, XM_017009624.1:c.564A>G, NM_001355037.2:c.-178A>G, NM_001355037.1:c.-178A>G, NM_001355035.2:c.-178A>G, NM_001355035.1:c.-178A>G, NM_001355029.2:c.165A>G, NM_001355029.1:c.165A>G, NM_001355036.2:c.-178A>G, NM_001355036.1:c.-178A>G

Select item 146294946915.

rs1462949469 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:40764825 (GRCh38)
5:40764927 (GRCh37)
Canonical SPDI:: NC_000005.10:40764824:C:
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.40764825del, NC_000005.9:g.40764927del, NM_006251.6:c.1235del, NM_006251.5:c.1235del, NM_206907.4:c.1280del, NM_206907.3:c.1280del, NM_001355028.2:c.1157del, NM_001355028.1:c.1157del, XM_017009624.2:c.1202del, XM_017009624.1:c.1202del, NM_001355037.2:c.461del, NM_001355037.1:c.461del, NM_001355035.2:c.461del, NM_001355035.1:c.461del, NM_001355029.2:c.803del, NM_001355029.1:c.803del, NM_001355036.2:c.461del, NM_001355036.1:c.461del, NP_006242.5:p.Arg412fs, NP_996790.3:p.Arg427fs, NP_001341957.1:p.Arg386fs, XP_016865113.1:p.Arg401fs, NP_001341966.1:p.Arg154fs, NP_001341964.1:p.Arg154fs, NP_001341958.1:p.Arg268fs, NP_001341965.1:p.Arg154fs

Select item 146269701216.

rs1462697012 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCT [Show Flanks]
Chromosome:: 5:40775438 (GRCh38)
5:40775541 (GRCh37)
Canonical SPDI:: NC_000005.10:40775438:GCT:GCTGCT
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCTGCT=0./0 (ALFA)
HGVS:: NC_000005.10:g.40775439_40775441dup, NC_000005.9:g.40775541_40775543dup, NM_006251.6:c.332_334dup, NM_006251.5:c.332_334dup, NM_206907.4:c.332_334dup, NM_206907.3:c.332_334dup, NM_001355028.2:c.254_256dup, NM_001355028.1:c.254_256dup, XM_017009624.2:c.254_256dup, XM_017009624.1:c.254_256dup, NM_001355037.2:c.-400_-398dup, NM_001355037.1:c.-400_-398dup, NM_001355035.2:c.-355_-353dup, NM_001355035.1:c.-355_-353dup, NM_001355036.2:c.-355_-353dup, NM_001355036.1:c.-355_-353dup, NM_001355034.2:c.332_334dup, NM_001355034.1:c.332_334dup, NP_006242.5:p.Leu112_Phe113insGln, NP_996790.3:p.Leu112_Phe113insGln, NP_001341957.1:p.Leu86_Phe87insGln, XP_016865113.1:p.Leu86_Phe87insGln, NP_001341963.1:p.Leu112_Phe113insGln

Select item 146190878617.

rs1461908786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:40762857 (GRCh38)
5:40762959 (GRCh37)
Canonical SPDI:: NC_000005.10:40762856:T:A
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.40762857T>A, NC_000005.9:g.40762959T>A, NM_006251.6:c.1601A>T, NM_006251.5:c.1601A>T, NM_206907.4:c.1646A>T, NM_206907.3:c.1646A>T, NM_001355028.2:c.1523A>T, NM_001355028.1:c.1523A>T, XM_017009624.2:c.1568A>T, XM_017009624.1:c.1568A>T, NM_001355037.2:c.827A>T, NM_001355037.1:c.827A>T, NM_001355035.2:c.827A>T, NM_001355035.1:c.827A>T, NM_001355029.2:c.1169A>T, NM_001355029.1:c.1169A>T, NM_001355036.2:c.827A>T, NM_001355036.1:c.827A>T, NP_006242.5:p.Asp534Val, NP_996790.3:p.Asp549Val, NP_001341957.1:p.Asp508Val, XP_016865113.1:p.Asp523Val, NP_001341966.1:p.Asp276Val, NP_001341964.1:p.Asp276Val, NP_001341958.1:p.Asp390Val, NP_001341965.1:p.Asp276Val

Select item 145503430218.

rs1455034302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:40765136 (GRCh38)
5:40765238 (GRCh37)
Canonical SPDI:: NC_000005.10:40765135:A:C
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.40765136A>C, NC_000005.9:g.40765238A>C, NM_006251.6:c.924T>G, NM_006251.5:c.924T>G, NM_206907.4:c.969T>G, NM_206907.3:c.969T>G, NM_001355028.2:c.846T>G, NM_001355028.1:c.846T>G, XM_017009624.2:c.891T>G, XM_017009624.1:c.891T>G, NM_001355037.2:c.150T>G, NM_001355037.1:c.150T>G, NM_001355035.2:c.150T>G, NM_001355035.1:c.150T>G, NM_001355029.2:c.492T>G, NM_001355029.1:c.492T>G, NM_001355036.2:c.150T>G, NM_001355036.1:c.150T>G, NP_006242.5:p.Cys308Trp, NP_996790.3:p.Cys323Trp, NP_001341957.1:p.Cys282Trp, XP_016865113.1:p.Cys297Trp, NP_001341966.1:p.Cys50Trp, NP_001341964.1:p.Cys50Trp, NP_001341958.1:p.Cys164Trp, NP_001341965.1:p.Cys50Trp

Select item 145290049619.

rs1452900496 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:40764919 (GRCh38)
5:40765022 (GRCh37)
Canonical SPDI:: NC_000005.10:40764919:A:AA
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40764920dup, NC_000005.9:g.40765022dup, NM_006251.6:c.1140dup, NM_006251.5:c.1140dup, NM_206907.4:c.1185dup, NM_206907.3:c.1185dup, NM_001355028.2:c.1062dup, NM_001355028.1:c.1062dup, XM_017009624.2:c.1107dup, XM_017009624.1:c.1107dup, NM_001355037.2:c.366dup, NM_001355037.1:c.366dup, NM_001355035.2:c.366dup, NM_001355035.1:c.366dup, NM_001355029.2:c.708dup, NM_001355029.1:c.708dup, NM_001355036.2:c.366dup, NM_001355036.1:c.366dup, NP_006242.5:p.Glu381Ter, NP_996790.3:p.Glu396Ter, NP_001341957.1:p.Glu355Ter, XP_016865113.1:p.Glu370Ter, NP_001341966.1:p.Glu123Ter, NP_001341964.1:p.Glu123Ter, NP_001341958.1:p.Glu237Ter, NP_001341965.1:p.Glu123Ter

Select item 144427228520.

rs1444272285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:40764613 (GRCh38)
5:40764715 (GRCh37)
Canonical SPDI:: NC_000005.10:40764612:G:A
Gene:: PRKAA1 (Varview), LOC124900968 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.40764613G>A, NC_000005.9:g.40764715G>A, NM_006251.6:c.1336C>T, NM_006251.5:c.1336C>T, NM_206907.4:c.1381C>T, NM_206907.3:c.1381C>T, NM_001355028.2:c.1258C>T, NM_001355028.1:c.1258C>T, XM_017009624.2:c.1303C>T, XM_017009624.1:c.1303C>T, NM_001355037.2:c.562C>T, NM_001355037.1:c.562C>T, NM_001355035.2:c.562C>T, NM_001355035.1:c.562C>T, NM_001355029.2:c.904C>T, NM_001355029.1:c.904C>T, NM_001355036.2:c.562C>T, NM_001355036.1:c.562C>T, NP_006242.5:p.Arg446Ter, NP_996790.3:p.Arg461Ter, NP_001341957.1:p.Arg420Ter, XP_016865113.1:p.Arg435Ter, NP_001341966.1:p.Arg188Ter, NP_001341964.1:p.Arg188Ter, NP_001341958.1:p.Arg302Ter, NP_001341965.1:p.Arg188Ter

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