Canonical Allele Identifier: CA10654752
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 369658
ClinVar RCV Id: RCV000408621
dbSNP Id: rs1057516030

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37480786dup , CM000683.2:g.37480786dup GRCh38
NC_000021.8:g.38853088dup , CM000683.1:g.38853088dup GRCh37
NC_000021.7:g.37774958dup NCBI36
NG_009366.1:g.118230dup

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.476dup ENSP00000342690.3:p.Tyr159Ter
ENST00000398960.7:c.476dup ENSP00000381932.2:p.Tyr159Ter
ENST00000426672.6:c.476dup ENSP00000412269.2:p.Tyr159Ter
ENST00000462274.2:n.370dup
ENST00000642309.1:c.362dup ENSP00000495596.1:p.Tyr121Ter
ENST00000643355.1:n.165dup
ENST00000643624.1:c.449dup ENSP00000493627.1:p.Tyr150Ter
ENST00000643854.1:c.362dup ENSP00000493653.1:p.Tyr121Ter
ENST00000644942.1:c.476dup ENSP00000494544.1:p.Tyr159Ter
ENST00000645424.1:c.476dup ENSP00000494897.1:p.Tyr159Ter
ENST00000645774.1:c.497dup ENSP00000494536.1:p.Tyr166Ter
ENST00000646523.1:c.476dup ENSP00000495632.1:p.Tyr159Ter
ENST00000646548.1:c.449dup ENSP00000495908.1:p.Tyr150Ter
ENST00000647188.2:c.449dup MANE Select ENSP00000494572.1:p.Tyr150Ter
ENST00000647425.1:c.449dup ENSP00000496748.1:p.Tyr150Ter
ENST00000647504.1:c.362dup ENSP00000495571.1:p.Tyr121Ter
ENST00000338785.7:c.476dup ENSP00000342690.3:p.Tyr159Ter
ENST00000339659.8:c.449dup ENSP00000340373.3:p.Tyr150Ter
ENST00000398956.2:c.476dup ENSP00000381929.2:p.Tyr159Ter
ENST00000398960.6:c.476dup ENSP00000381932.2:p.Tyr159Ter
ENST00000462274.1:n.1134dup
NM_001396.3:c.476dup NP_001387.2:p.Tyr159Ter
NM_101395.2:c.476dup NP_567824.1:p.Tyr159Ter
NM_130436.2:c.449dup NP_569120.1:p.Tyr150Ter
NM_130438.2:c.476dup NP_569122.1:p.Tyr159Ter
XM_005260931.3:c.389dup XP_005260988.1:p.Tyr130Ter
XM_006723976.2:c.476dup XP_006724039.1:p.Tyr159Ter
XM_006723977.2:c.476dup XP_006724040.1:p.Tyr159Ter
XM_006723978.2:c.476dup XP_006724041.1:p.Tyr159Ter
XM_006723979.2:c.449dup XP_006724042.1:p.Tyr150Ter
XM_011529482.1:c.497dup XP_011527784.1:p.Tyr166Ter
XM_011529483.1:c.476dup XP_011527785.1:p.Tyr159Ter
XM_011529484.1:c.470dup XP_011527786.1:p.Tyr157Ter
XM_011529485.1:c.362dup XP_011527787.1:p.Tyr121Ter
XR_937703.1:n.707-1670dup
XR_937704.1:n.618-1670dup
NM_001347721.1:c.449dup NP_001334650.1:p.Tyr150Ter
NM_001347722.1:c.449dup NP_001334651.1:p.Tyr150Ter
NM_001347723.1:c.362dup NP_001334652.1:p.Tyr121Ter
NM_001396.4:c.476dup NP_001387.2:p.Tyr159Ter
XM_006723976.3:c.476dup XP_006724039.1:p.Tyr159Ter
XM_006723977.3:c.476dup XP_006724040.1:p.Tyr159Ter
XM_006723978.3:c.476dup XP_006724041.1:p.Tyr159Ter
XM_011529483.2:c.476dup XP_011527785.1:p.Tyr159Ter
XM_017028284.1:c.449dup XP_016883773.1:p.Tyr150Ter
XM_017028286.2:c.389dup XP_016883775.1:p.Tyr130Ter
XM_024452057.1:c.362dup XP_024307825.1:p.Tyr121Ter
XR_001755034.1:n.139-1670dup
NM_001347721.2:c.449dup MANE Select NP_001334650.1:p.Tyr150Ter
NM_001347722.2:c.449dup NP_001334651.1:p.Tyr150Ter
NM_001347723.2:c.362dup NP_001334652.1:p.Tyr121Ter
NM_001396.5:c.476dup NP_001387.2:p.Tyr159Ter