Canonical Allele Identifier: CA16621006
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 423237
ClinVar RCV Id: RCV000487165
dbSNP Id: rs1064796316
MyVariant Identifiers: chr21:g.38877893G>A (hg19) chr21:g.37505590G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37505590G>A , CM000683.2:g.37505590G>A GRCh38
NC_000021.8:g.38877893G>A , CM000683.1:g.38877893G>A GRCh37
NC_000021.7:g.37799763G>A NCBI36
NG_009366.1:g.143035G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.1546+1G>A ENSP00000342690.3:n.1546+1G>A
ENST00000398960.7:c.1546+1G>A ENSP00000381932.2:n.1546+1G>A
ENST00000643624.1:c.1519+1G>A ENSP00000493627.1:n.1519+1G>A
ENST00000644942.1:c.1546+1G>A ENSP00000494544.1:n.1546+1G>A
ENST00000645424.1:c.1546+1G>A ENSP00000494897.1:n.1546+1G>A
ENST00000646224.1:n.961+1G>A
ENST00000646351.1:n.4264+1G>A
ENST00000646523.1:c.1546+1G>A ENSP00000495632.1:n.1546+1G>A
ENST00000646548.1:c.1519+1G>A ENSP00000495908.1:n.1519+1G>A
ENST00000647188.2:c.1519+1G>A MANE Select ENSP00000494572.1:n.1519+1G>A
ENST00000647425.1:c.1519+1G>A ENSP00000496748.1:n.1519+1G>A
ENST00000647504.1:c.1432+1G>A ENSP00000495571.1:n.1432+1G>A
ENST00000338785.7:c.1546+1G>A ENSP00000342690.3:n.1546+1G>A
ENST00000339659.8:c.1519+1G>A ENSP00000340373.3:n.1519+1G>A
ENST00000398956.2:c.1546+1G>A ENSP00000381929.2:n.1546+1G>A
ENST00000398960.6:c.1546+1G>A ENSP00000381932.2:n.1546+1G>A
NM_001396.3:c.1546+1G>A NP_001387.2:n.1546+1G>A
NM_101395.2:c.1546+1G>A NP_567824.1:n.1546+1G>A
NM_130436.2:c.1519+1G>A NP_569120.1:n.1519+1G>A
NM_130438.2:c.1546+1G>A NP_569122.1:n.1546+1G>A
XM_005260931.3:c.1459+1G>A XP_005260988.1:n.1459+1G>A
XM_005260933.3:c.862+1G>A XP_005260990.1:n.862+1G>A
XM_006723976.2:c.1546+1G>A XP_006724039.1:n.1546+1G>A
XM_006723977.2:c.1546+1G>A XP_006724040.1:n.1546+1G>A
XM_006723978.2:c.1546+1G>A XP_006724041.1:n.1546+1G>A
XM_006723979.2:c.1519+1G>A XP_006724042.1:n.1519+1G>A
XM_011529482.1:c.1567+1G>A XP_011527784.1:n.1567+1G>A
XM_011529483.1:c.1546+1G>A XP_011527785.1:n.1546+1G>A
XM_011529484.1:c.1540+1G>A XP_011527786.1:n.1540+1G>A
XM_011529485.1:c.1432+1G>A XP_011527787.1:n.1432+1G>A
NM_001347721.1:c.1519+1G>A NP_001334650.1:n.1519+1G>A
NM_001347722.1:c.1519+1G>A NP_001334651.1:n.1519+1G>A
NM_001347723.1:c.1432+1G>A NP_001334652.1:n.1432+1G>A
NM_001396.4:c.1546+1G>A NP_001387.2:n.1546+1G>A
XM_005260933.5:c.862+1G>A XP_005260990.1:n.862+1G>A
XM_006723976.3:c.1546+1G>A XP_006724039.1:n.1546+1G>A
XM_006723977.3:c.1546+1G>A XP_006724040.1:n.1546+1G>A
XM_006723978.3:c.1546+1G>A XP_006724041.1:n.1546+1G>A
XM_011529483.2:c.1546+1G>A XP_011527785.1:n.1546+1G>A
XM_017028284.1:c.1519+1G>A XP_016883773.1:n.1519+1G>A
XM_017028286.2:c.1459+1G>A XP_016883775.1:n.1459+1G>A
XM_024452057.1:c.1432+1G>A XP_024307825.1:n.1432+1G>A
NM_001347721.2:c.1519+1G>A MANE Select NP_001334650.1:n.1519+1G>A
NM_001347722.2:c.1519+1G>A NP_001334651.1:n.1519+1G>A
NM_001347723.2:c.1432+1G>A NP_001334652.1:n.1432+1G>A
NM_001396.5:c.1546+1G>A NP_001387.2:n.1546+1G>A
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