Canonical Allele Identifier: CA512327777

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 512373
• ClinVar RCV Id: RCV000602061 ; RCV003767610
• dbSNP Id: rs1555984261
• gnomAD v4: 21-37490314-G-A
• MyVariant Identifiers: chr21:g.38862616G>A (hg19) ; chr21:g.37490314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37490314G>A , CM000683.2:g.37490314G>A	GRCh38
NC_000021.8:g.38862616G>A , CM000683.1:g.38862616G>A	GRCh37
NC_000021.7:g.37784486G>A	NCBI36
NG_009366.1:g.127758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.804G>A	ENSP00000342690.3:p.Gln268=
ENST00000398960.7:c.804G>A	ENSP00000381932.2:p.Gln268=
ENST00000642309.1:c.690G>A	ENSP00000495596.1:p.Gln230=
ENST00000643624.1:c.777G>A	ENSP00000493627.1:p.Gln259=
ENST00000643808.1:n.607G>A
ENST00000643854.1:c.690G>A	ENSP00000493653.1:p.Gln230=
ENST00000644367.1:n.168G>A
ENST00000644942.1:c.804G>A	ENSP00000494544.1:p.Gln268=
ENST00000645424.1:c.804G>A	ENSP00000494897.1:p.Gln268=
ENST00000645774.1:c.825G>A	ENSP00000494536.1:p.Gln275=
ENST00000646224.1:n.219G>A
ENST00000646523.1:c.804G>A	ENSP00000495632.1:p.Gln268=
ENST00000646548.1:c.777G>A	ENSP00000495908.1:p.Gln259=
ENST00000647188.2:c.777G>A MANE Select	ENSP00000494572.1:p.Gln259=
ENST00000647425.1:c.777G>A	ENSP00000496748.1:p.Gln259=
ENST00000647504.1:c.690G>A	ENSP00000495571.1:p.Gln230=
ENST00000338785.7:c.804G>A	ENSP00000342690.3:p.Gln268=
ENST00000339659.8:c.777G>A	ENSP00000340373.3:p.Gln259=
ENST00000398956.2:c.804G>A	ENSP00000381929.2:p.Gln268=
ENST00000398960.6:c.804G>A	ENSP00000381932.2:p.Gln268=
NM_001396.3:c.804G>A	NP_001387.2:p.Gln268=
NM_101395.2:c.804G>A	NP_567824.1:p.Gln268=
NM_130436.2:c.777G>A	NP_569120.1:p.Gln259=
NM_130438.2:c.804G>A	NP_569122.1:p.Gln268=
XM_005260931.3:c.717G>A	XP_005260988.1:p.Gln239=
XM_005260933.3:c.120G>A	XP_005260990.1:p.Gln40=
XM_006723976.2:c.804G>A	XP_006724039.1:p.Gln268=
XM_006723977.2:c.804G>A	XP_006724040.1:p.Gln268=
XM_006723978.2:c.804G>A	XP_006724041.1:p.Gln268=
XM_006723979.2:c.777G>A	XP_006724042.1:p.Gln259=
XM_011529482.1:c.825G>A	XP_011527784.1:p.Gln275=
XM_011529483.1:c.804G>A	XP_011527785.1:p.Gln268=
XM_011529484.1:c.798G>A	XP_011527786.1:p.Gln266=
XM_011529485.1:c.690G>A	XP_011527787.1:p.Gln230=
NM_001347721.1:c.777G>A	NP_001334650.1:p.Gln259=
NM_001347722.1:c.777G>A	NP_001334651.1:p.Gln259=
NM_001347723.1:c.690G>A	NP_001334652.1:p.Gln230=
NM_001396.4:c.804G>A	NP_001387.2:p.Gln268=
XM_005260933.5:c.120G>A	XP_005260990.1:p.Gln40=
XM_006723976.3:c.804G>A	XP_006724039.1:p.Gln268=
XM_006723977.3:c.804G>A	XP_006724040.1:p.Gln268=
XM_006723978.3:c.804G>A	XP_006724041.1:p.Gln268=
XM_011529483.2:c.804G>A	XP_011527785.1:p.Gln268=
XM_017028284.1:c.777G>A	XP_016883773.1:p.Gln259=
XM_017028286.2:c.717G>A	XP_016883775.1:p.Gln239=
XM_024452057.1:c.690G>A	XP_024307825.1:p.Gln230=
NM_001347721.2:c.777G>A MANE Select	NP_001334650.1:p.Gln259=
NM_001347722.2:c.777G>A	NP_001334651.1:p.Gln259=
NM_001347723.2:c.690G>A	NP_001334652.1:p.Gln230=
NM_001396.5:c.804G>A	NP_001387.2:p.Gln268=