Canonical Allele Identifier: CA278535
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 204011
dbSNP Id: rs797044526

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37490393C>T , CM000683.2:g.37490393C>T GRCh38
NC_000021.8:g.38862695C>T , CM000683.1:g.38862695C>T GRCh37
NC_000021.7:g.37784565C>T NCBI36
NG_009366.1:g.127837C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.883C>T ENSP00000342690.3:p.Leu295Phe
ENST00000398960.7:c.883C>T ENSP00000381932.2:p.Leu295Phe
ENST00000642309.1:c.769C>T ENSP00000495596.1:p.Leu257Phe
ENST00000643624.1:c.856C>T ENSP00000493627.1:p.Leu286Phe
ENST00000643808.1:n.686C>T
ENST00000643854.1:c.769C>T ENSP00000493653.1:p.Leu257Phe
ENST00000644367.1:n.247C>T
ENST00000644942.1:c.883C>T ENSP00000494544.1:p.Leu295Phe
ENST00000645424.1:c.883C>T ENSP00000494897.1:p.Leu295Phe
ENST00000645774.1:c.904C>T ENSP00000494536.1:p.Leu302Phe
ENST00000646224.1:n.298C>T
ENST00000646523.1:c.883C>T ENSP00000495632.1:p.Leu295Phe
ENST00000646548.1:c.856C>T ENSP00000495908.1:p.Leu286Phe
ENST00000647188.2:c.856C>T MANE Select ENSP00000494572.1:p.Leu286Phe
ENST00000647425.1:c.856C>T ENSP00000496748.1:p.Leu286Phe
ENST00000647504.1:c.769C>T ENSP00000495571.1:p.Leu257Phe
ENST00000338785.7:c.883C>T ENSP00000342690.3:p.Leu295Phe
ENST00000339659.8:c.856C>T ENSP00000340373.3:p.Leu286Phe
ENST00000398956.2:c.883C>T ENSP00000381929.2:p.Leu295Phe
ENST00000398960.6:c.883C>T ENSP00000381932.2:p.Leu295Phe
NM_001396.3:c.883C>T NP_001387.2:p.Leu295Phe
NM_101395.2:c.883C>T NP_567824.1:p.Leu295Phe
NM_130436.2:c.856C>T NP_569120.1:p.Leu286Phe
NM_130438.2:c.883C>T NP_569122.1:p.Leu295Phe
XM_005260931.3:c.796C>T XP_005260988.1:p.Leu266Phe
XM_005260933.3:c.199C>T XP_005260990.1:p.Leu67Phe
XM_006723976.2:c.883C>T XP_006724039.1:p.Leu295Phe
XM_006723977.2:c.883C>T XP_006724040.1:p.Leu295Phe
XM_006723978.2:c.883C>T XP_006724041.1:p.Leu295Phe
XM_006723979.2:c.856C>T XP_006724042.1:p.Leu286Phe
XM_011529482.1:c.904C>T XP_011527784.1:p.Leu302Phe
XM_011529483.1:c.883C>T XP_011527785.1:p.Leu295Phe
XM_011529484.1:c.877C>T XP_011527786.1:p.Leu293Phe
XM_011529485.1:c.769C>T XP_011527787.1:p.Leu257Phe
NM_001347721.1:c.856C>T NP_001334650.1:p.Leu286Phe
NM_001347722.1:c.856C>T NP_001334651.1:p.Leu286Phe
NM_001347723.1:c.769C>T NP_001334652.1:p.Leu257Phe
NM_001396.4:c.883C>T NP_001387.2:p.Leu295Phe
XM_005260933.5:c.199C>T XP_005260990.1:p.Leu67Phe
XM_006723976.3:c.883C>T XP_006724039.1:p.Leu295Phe
XM_006723977.3:c.883C>T XP_006724040.1:p.Leu295Phe
XM_006723978.3:c.883C>T XP_006724041.1:p.Leu295Phe
XM_011529483.2:c.883C>T XP_011527785.1:p.Leu295Phe
XM_017028284.1:c.856C>T XP_016883773.1:p.Leu286Phe
XM_017028286.2:c.796C>T XP_016883775.1:p.Leu266Phe
XM_024452057.1:c.769C>T XP_024307825.1:p.Leu257Phe
NM_001347721.2:c.856C>T MANE Select NP_001334650.1:p.Leu286Phe
NM_001347722.2:c.856C>T NP_001334651.1:p.Leu286Phe
NM_001347723.2:c.769C>T NP_001334652.1:p.Leu257Phe
NM_001396.5:c.883C>T NP_001387.2:p.Leu295Phe