Canonical Allele Identifier: CA409947766

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 1800638
• ClinVar RCV Id: RCV002461777
• MyVariant Identifiers: chr21:g.38862692C>A (hg19) ; chr21:g.37490390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37490390C>A , CM000683.2:g.37490390C>A	GRCh38
NC_000021.8:g.38862692C>A , CM000683.1:g.38862692C>A	GRCh37
NC_000021.7:g.37784562C>A	NCBI36
NG_009366.1:g.127834C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.880C>A	ENSP00000342690.3:p.Leu294Ile
ENST00000398960.7:c.880C>A	ENSP00000381932.2:p.Leu294Ile
ENST00000642309.1:c.766C>A	ENSP00000495596.1:p.Leu256Ile
ENST00000643624.1:c.853C>A	ENSP00000493627.1:p.Leu285Ile
ENST00000643808.1:n.683C>A
ENST00000643854.1:c.766C>A	ENSP00000493653.1:p.Leu256Ile
ENST00000644367.1:n.244C>A
ENST00000644942.1:c.880C>A	ENSP00000494544.1:p.Leu294Ile
ENST00000645424.1:c.880C>A	ENSP00000494897.1:p.Leu294Ile
ENST00000645774.1:c.901C>A	ENSP00000494536.1:p.Leu301Ile
ENST00000646224.1:n.295C>A
ENST00000646523.1:c.880C>A	ENSP00000495632.1:p.Leu294Ile
ENST00000646548.1:c.853C>A	ENSP00000495908.1:p.Leu285Ile
ENST00000647188.2:c.853C>A MANE Select	ENSP00000494572.1:p.Leu285Ile
ENST00000647425.1:c.853C>A	ENSP00000496748.1:p.Leu285Ile
ENST00000647504.1:c.766C>A	ENSP00000495571.1:p.Leu256Ile
ENST00000338785.7:c.880C>A	ENSP00000342690.3:p.Leu294Ile
ENST00000339659.8:c.853C>A	ENSP00000340373.3:p.Leu285Ile
ENST00000398956.2:c.880C>A	ENSP00000381929.2:p.Leu294Ile
ENST00000398960.6:c.880C>A	ENSP00000381932.2:p.Leu294Ile
NM_001396.3:c.880C>A	NP_001387.2:p.Leu294Ile
NM_101395.2:c.880C>A	NP_567824.1:p.Leu294Ile
NM_130436.2:c.853C>A	NP_569120.1:p.Leu285Ile
NM_130438.2:c.880C>A	NP_569122.1:p.Leu294Ile
XM_005260931.3:c.793C>A	XP_005260988.1:p.Leu265Ile
XM_005260933.3:c.196C>A	XP_005260990.1:p.Leu66Ile
XM_006723976.2:c.880C>A	XP_006724039.1:p.Leu294Ile
XM_006723977.2:c.880C>A	XP_006724040.1:p.Leu294Ile
XM_006723978.2:c.880C>A	XP_006724041.1:p.Leu294Ile
XM_006723979.2:c.853C>A	XP_006724042.1:p.Leu285Ile
XM_011529482.1:c.901C>A	XP_011527784.1:p.Leu301Ile
XM_011529483.1:c.880C>A	XP_011527785.1:p.Leu294Ile
XM_011529484.1:c.874C>A	XP_011527786.1:p.Leu292Ile
XM_011529485.1:c.766C>A	XP_011527787.1:p.Leu256Ile
NM_001347721.1:c.853C>A	NP_001334650.1:p.Leu285Ile
NM_001347722.1:c.853C>A	NP_001334651.1:p.Leu285Ile
NM_001347723.1:c.766C>A	NP_001334652.1:p.Leu256Ile
NM_001396.4:c.880C>A	NP_001387.2:p.Leu294Ile
XM_005260933.5:c.196C>A	XP_005260990.1:p.Leu66Ile
XM_006723976.3:c.880C>A	XP_006724039.1:p.Leu294Ile
XM_006723977.3:c.880C>A	XP_006724040.1:p.Leu294Ile
XM_006723978.3:c.880C>A	XP_006724041.1:p.Leu294Ile
XM_011529483.2:c.880C>A	XP_011527785.1:p.Leu294Ile
XM_017028284.1:c.853C>A	XP_016883773.1:p.Leu285Ile
XM_017028286.2:c.793C>A	XP_016883775.1:p.Leu265Ile
XM_024452057.1:c.766C>A	XP_024307825.1:p.Leu256Ile
NM_001347721.2:c.853C>A MANE Select	NP_001334650.1:p.Leu285Ile
NM_001347722.2:c.853C>A	NP_001334651.1:p.Leu285Ile
NM_001347723.2:c.766C>A	NP_001334652.1:p.Leu256Ile
NM_001396.5:c.880C>A	NP_001387.2:p.Leu294Ile