Canonical Allele Identifier: CA409947676

Gene: DYRK1A

Linked Data

• dbSNP Id: rs2053043229
• gnomAD v3: 21-37490351-C-T
• gnomAD v4: 21-37490351-C-T
• MyVariant Identifiers: chr21:g.38862653C>T (hg19) ; chr21:g.37490351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37490351C>T , CM000683.2:g.37490351C>T	GRCh38
NC_000021.8:g.38862653C>T , CM000683.1:g.38862653C>T	GRCh37
NC_000021.7:g.37784523C>T	NCBI36
NG_009366.1:g.127795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.841C>T	ENSP00000342690.3:p.Leu281Phe
ENST00000398960.7:c.841C>T	ENSP00000381932.2:p.Leu281Phe
ENST00000642309.1:c.727C>T	ENSP00000495596.1:p.Leu243Phe
ENST00000643624.1:c.814C>T	ENSP00000493627.1:p.Leu272Phe
ENST00000643808.1:n.644C>T
ENST00000643854.1:c.727C>T	ENSP00000493653.1:p.Leu243Phe
ENST00000644367.1:n.205C>T
ENST00000644942.1:c.841C>T	ENSP00000494544.1:p.Leu281Phe
ENST00000645424.1:c.841C>T	ENSP00000494897.1:p.Leu281Phe
ENST00000645774.1:c.862C>T	ENSP00000494536.1:p.Leu288Phe
ENST00000646224.1:n.256C>T
ENST00000646523.1:c.841C>T	ENSP00000495632.1:p.Leu281Phe
ENST00000646548.1:c.814C>T	ENSP00000495908.1:p.Leu272Phe
ENST00000647188.2:c.814C>T MANE Select	ENSP00000494572.1:p.Leu272Phe
ENST00000647425.1:c.814C>T	ENSP00000496748.1:p.Leu272Phe
ENST00000647504.1:c.727C>T	ENSP00000495571.1:p.Leu243Phe
ENST00000338785.7:c.841C>T	ENSP00000342690.3:p.Leu281Phe
ENST00000339659.8:c.814C>T	ENSP00000340373.3:p.Leu272Phe
ENST00000398956.2:c.841C>T	ENSP00000381929.2:p.Leu281Phe
ENST00000398960.6:c.841C>T	ENSP00000381932.2:p.Leu281Phe
NM_001396.3:c.841C>T	NP_001387.2:p.Leu281Phe
NM_101395.2:c.841C>T	NP_567824.1:p.Leu281Phe
NM_130436.2:c.814C>T	NP_569120.1:p.Leu272Phe
NM_130438.2:c.841C>T	NP_569122.1:p.Leu281Phe
XM_005260931.3:c.754C>T	XP_005260988.1:p.Leu252Phe
XM_005260933.3:c.157C>T	XP_005260990.1:p.Leu53Phe
XM_006723976.2:c.841C>T	XP_006724039.1:p.Leu281Phe
XM_006723977.2:c.841C>T	XP_006724040.1:p.Leu281Phe
XM_006723978.2:c.841C>T	XP_006724041.1:p.Leu281Phe
XM_006723979.2:c.814C>T	XP_006724042.1:p.Leu272Phe
XM_011529482.1:c.862C>T	XP_011527784.1:p.Leu288Phe
XM_011529483.1:c.841C>T	XP_011527785.1:p.Leu281Phe
XM_011529484.1:c.835C>T	XP_011527786.1:p.Leu279Phe
XM_011529485.1:c.727C>T	XP_011527787.1:p.Leu243Phe
NM_001347721.1:c.814C>T	NP_001334650.1:p.Leu272Phe
NM_001347722.1:c.814C>T	NP_001334651.1:p.Leu272Phe
NM_001347723.1:c.727C>T	NP_001334652.1:p.Leu243Phe
NM_001396.4:c.841C>T	NP_001387.2:p.Leu281Phe
XM_005260933.5:c.157C>T	XP_005260990.1:p.Leu53Phe
XM_006723976.3:c.841C>T	XP_006724039.1:p.Leu281Phe
XM_006723977.3:c.841C>T	XP_006724040.1:p.Leu281Phe
XM_006723978.3:c.841C>T	XP_006724041.1:p.Leu281Phe
XM_011529483.2:c.841C>T	XP_011527785.1:p.Leu281Phe
XM_017028284.1:c.814C>T	XP_016883773.1:p.Leu272Phe
XM_017028286.2:c.754C>T	XP_016883775.1:p.Leu252Phe
XM_024452057.1:c.727C>T	XP_024307825.1:p.Leu243Phe
NM_001347721.2:c.814C>T MANE Select	NP_001334650.1:p.Leu272Phe
NM_001347722.2:c.814C>T	NP_001334651.1:p.Leu272Phe
NM_001347723.2:c.727C>T	NP_001334652.1:p.Leu243Phe
NM_001396.5:c.841C>T	NP_001387.2:p.Leu281Phe