Canonical Allele Identifier: CA409947849
Gene: DYRK1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37490426G>T , CM000683.2:g.37490426G>T GRCh38
NC_000021.8:g.38862728G>T , CM000683.1:g.38862728G>T GRCh37
NC_000021.7:g.37784598G>T NCBI36
NG_009366.1:g.127870G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338785.8:c.916G>T ENSP00000342690.3:p.Val306Phe
ENST00000398960.7:c.916G>T ENSP00000381932.2:p.Val306Phe
ENST00000642309.1:c.802G>T ENSP00000495596.1:p.Val268Phe
ENST00000643624.1:c.889G>T ENSP00000493627.1:p.Val297Phe
ENST00000643808.1:n.719G>T
ENST00000643854.1:c.802G>T ENSP00000493653.1:p.Val268Phe
ENST00000644367.1:n.280G>T
ENST00000644942.1:c.916G>T ENSP00000494544.1:p.Val306Phe
ENST00000645424.1:c.916G>T ENSP00000494897.1:p.Val306Phe
ENST00000645774.1:c.937G>T ENSP00000494536.1:p.Val313Phe
ENST00000646224.1:n.331G>T
ENST00000646523.1:c.916G>T ENSP00000495632.1:p.Val306Phe
ENST00000646548.1:c.889G>T ENSP00000495908.1:p.Val297Phe
ENST00000647188.2:c.889G>T MANE Select ENSP00000494572.1:p.Val297Phe
ENST00000647425.1:c.889G>T ENSP00000496748.1:p.Val297Phe
ENST00000647504.1:c.802G>T ENSP00000495571.1:p.Val268Phe
ENST00000338785.7:c.916G>T ENSP00000342690.3:p.Val306Phe
ENST00000339659.8:c.889G>T ENSP00000340373.3:p.Val297Phe
ENST00000398956.2:c.916G>T ENSP00000381929.2:p.Val306Phe
ENST00000398960.6:c.916G>T ENSP00000381932.2:p.Val306Phe
NM_001396.3:c.916G>T NP_001387.2:p.Val306Phe
NM_101395.2:c.916G>T NP_567824.1:p.Val306Phe
NM_130436.2:c.889G>T NP_569120.1:p.Val297Phe
NM_130438.2:c.916G>T NP_569122.1:p.Val306Phe
XM_005260931.3:c.829G>T XP_005260988.1:p.Val277Phe
XM_005260933.3:c.232G>T XP_005260990.1:p.Val78Phe
XM_006723976.2:c.916G>T XP_006724039.1:p.Val306Phe
XM_006723977.2:c.916G>T XP_006724040.1:p.Val306Phe
XM_006723978.2:c.916G>T XP_006724041.1:p.Val306Phe
XM_006723979.2:c.889G>T XP_006724042.1:p.Val297Phe
XM_011529482.1:c.937G>T XP_011527784.1:p.Val313Phe
XM_011529483.1:c.916G>T XP_011527785.1:p.Val306Phe
XM_011529484.1:c.910G>T XP_011527786.1:p.Val304Phe
XM_011529485.1:c.802G>T XP_011527787.1:p.Val268Phe
NM_001347721.1:c.889G>T NP_001334650.1:p.Val297Phe
NM_001347722.1:c.889G>T NP_001334651.1:p.Val297Phe
NM_001347723.1:c.802G>T NP_001334652.1:p.Val268Phe
NM_001396.4:c.916G>T NP_001387.2:p.Val306Phe
XM_005260933.5:c.232G>T XP_005260990.1:p.Val78Phe
XM_006723976.3:c.916G>T XP_006724039.1:p.Val306Phe
XM_006723977.3:c.916G>T XP_006724040.1:p.Val306Phe
XM_006723978.3:c.916G>T XP_006724041.1:p.Val306Phe
XM_011529483.2:c.916G>T XP_011527785.1:p.Val306Phe
XM_017028284.1:c.889G>T XP_016883773.1:p.Val297Phe
XM_017028286.2:c.829G>T XP_016883775.1:p.Val277Phe
XM_024452057.1:c.802G>T XP_024307825.1:p.Val268Phe
NM_001347721.2:c.889G>T MANE Select NP_001334650.1:p.Val297Phe
NM_001347722.2:c.889G>T NP_001334651.1:p.Val297Phe
NM_001347723.2:c.802G>T NP_001334652.1:p.Val268Phe
NM_001396.5:c.916G>T NP_001387.2:p.Val306Phe