Canonical Allele Identifier: CA2388503359

Gene: DYRK1A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37505466C= , CM000683.2:g.37505466C=	GRCh38
NC_000021.8:g.38877769C= , CM000683.1:g.38877769C=	GRCh37
NC_000021.7:g.37799639C=	NCBI36
NG_009366.1:g.142911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.1423C=	ENSP00000342690.3:p.Gln475=
ENST00000398960.7:c.1423C=	ENSP00000381932.2:p.Gln475=
ENST00000643624.1:c.1396C=	ENSP00000493627.1:p.Gln466=
ENST00000644367.1:n.787C=
ENST00000644942.1:c.1423C=	ENSP00000494544.1:p.Gln475=
ENST00000645424.1:c.1423C=	ENSP00000494897.1:p.Gln475=
ENST00000645774.1:c.1471C=	ENSP00000494536.1:p.Gln491=
ENST00000646224.1:n.838C=
ENST00000646351.1:n.4141C=
ENST00000646523.1:c.1423C=	ENSP00000495632.1:p.Gln475=
ENST00000646548.1:c.1396C=	ENSP00000495908.1:p.Gln466=
ENST00000647188.2:c.1396C= MANE Select	ENSP00000494572.1:p.Gln466=
ENST00000647425.1:c.1396C=	ENSP00000496748.1:p.Gln466=
ENST00000647504.1:c.1309C=	ENSP00000495571.1:p.Gln437=
ENST00000338785.7:c.1423C=	ENSP00000342690.3:p.Gln475=
ENST00000339659.8:c.1396C=	ENSP00000340373.3:p.Gln466=
ENST00000398956.2:c.1423C=	ENSP00000381929.2:p.Gln475=
ENST00000398960.6:c.1423C=	ENSP00000381932.2:p.Gln475=
NM_001396.3:c.1423C=	NP_001387.2:p.Gln475=
NM_101395.2:c.1423C=	NP_567824.1:p.Gln475=
NM_130436.2:c.1396C=	NP_569120.1:p.Gln466=
NM_130438.2:c.1423C=	NP_569122.1:p.Gln475=
XM_005260931.3:c.1336C=	XP_005260988.1:p.Gln446=
XM_005260933.3:c.739C=	XP_005260990.1:p.Gln247=
XM_006723976.2:c.1423C=	XP_006724039.1:p.Gln475=
XM_006723977.2:c.1423C=	XP_006724040.1:p.Gln475=
XM_006723978.2:c.1423C=	XP_006724041.1:p.Gln475=
XM_006723979.2:c.1396C=	XP_006724042.1:p.Gln466=
XM_011529482.1:c.1444C=	XP_011527784.1:p.Gln482=
XM_011529483.1:c.1423C=	XP_011527785.1:p.Gln475=
XM_011529484.1:c.1417C=	XP_011527786.1:p.Gln473=
XM_011529485.1:c.1309C=	XP_011527787.1:p.Gln437=
NM_001347721.1:c.1396C=	NP_001334650.1:p.Gln466=
NM_001347722.1:c.1396C=	NP_001334651.1:p.Gln466=
NM_001347723.1:c.1309C=	NP_001334652.1:p.Gln437=
NM_001396.4:c.1423C=	NP_001387.2:p.Gln475=
XM_005260933.5:c.739C=	XP_005260990.1:p.Gln247=
XM_006723976.3:c.1423C=	XP_006724039.1:p.Gln475=
XM_006723977.3:c.1423C=	XP_006724040.1:p.Gln475=
XM_006723978.3:c.1423C=	XP_006724041.1:p.Gln475=
XM_011529483.2:c.1423C=	XP_011527785.1:p.Gln475=
XM_017028284.1:c.1396C=	XP_016883773.1:p.Gln466=
XM_017028286.2:c.1336C=	XP_016883775.1:p.Gln446=
XM_024452057.1:c.1309C=	XP_024307825.1:p.Gln437=
NM_001347721.2:c.1396C= MANE Select	NP_001334650.1:p.Gln466=
NM_001347722.2:c.1396C=	NP_001334651.1:p.Gln466=
NM_001347723.2:c.1309C=	NP_001334652.1:p.Gln437=
NM_001396.5:c.1423C=	NP_001387.2:p.Gln475=