Canonical Allele Identifier: CA409940292

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 732726
• ClinVar RCV Id: RCV003528246
• dbSNP Id: rs1601335825
• gnomAD v4: 21-37512287-G-A
• COSMIC: COSM2845015
• MyVariant Identifiers: chr21:g.38884590G>A (hg19) ; chr21:g.37512287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37512287G>A , CM000683.2:g.37512287G>A	GRCh38
NC_000021.8:g.38884590G>A , CM000683.1:g.38884590G>A	GRCh37
NC_000021.7:g.37806460G>A	NCBI36
NG_009366.1:g.149732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.*424G>A	ENSP00000342690.3:n.*424G>A
ENST00000398960.7:c.2048G>A	ENSP00000381932.2:p.Arg683His
ENST00000643624.1:c.2021G>A	ENSP00000493627.1:p.Arg674His
ENST00000644942.1:c.2048G>A	ENSP00000494544.1:p.Arg683His
ENST00000646224.1:n.1463G>A
ENST00000646548.1:c.2021G>A	ENSP00000495908.1:p.Arg674His
ENST00000647188.2:c.2021G>A MANE Select	ENSP00000494572.1:p.Arg674His
ENST00000647425.1:c.2021G>A	ENSP00000496748.1:p.Arg674His
ENST00000647504.1:c.1934G>A	ENSP00000495571.1:p.Arg645His
ENST00000338785.7:c.*424G>A	ENSP00000342690.3:n.*424G>A
ENST00000339659.8:c.2021G>A	ENSP00000340373.3:p.Arg674His
ENST00000398960.6:c.2048G>A	ENSP00000381932.2:p.Arg683His
NM_001396.3:c.2048G>A	NP_001387.2:p.Arg683His
NM_101395.2:c.*424G>A	NP_567824.1:n.*424G>A
NM_130436.2:c.2021G>A	NP_569120.1:p.Arg674His
NM_130438.2:c.*333G>A	NP_569122.1:n.*333G>A
XM_005260931.3:c.1961G>A	XP_005260988.1:p.Arg654His
XM_005260933.3:c.1364G>A	XP_005260990.1:p.Arg455His
XM_006723976.2:c.2048G>A	XP_006724039.1:p.Arg683His
XM_006723977.2:c.2048G>A	XP_006724040.1:p.Arg683His
XM_006723978.2:c.2048G>A	XP_006724041.1:p.Arg683His
XM_006723979.2:c.2021G>A	XP_006724042.1:p.Arg674His
XM_011529482.1:c.2069G>A	XP_011527784.1:p.Arg690His
XM_011529483.1:c.2048G>A	XP_011527785.1:p.Arg683His
XM_011529484.1:c.2042G>A	XP_011527786.1:p.Arg681His
XM_011529485.1:c.1934G>A	XP_011527787.1:p.Arg645His
NM_001347721.1:c.2021G>A	NP_001334650.1:p.Arg674His
NM_001347722.1:c.2021G>A	NP_001334651.1:p.Arg674His
NM_001347723.1:c.1934G>A	NP_001334652.1:p.Arg645His
NM_001396.4:c.2048G>A	NP_001387.2:p.Arg683His
XM_005260933.5:c.1364G>A	XP_005260990.1:p.Arg455His
XM_006723976.3:c.2048G>A	XP_006724039.1:p.Arg683His
XM_006723977.3:c.2048G>A	XP_006724040.1:p.Arg683His
XM_006723978.3:c.2048G>A	XP_006724041.1:p.Arg683His
XM_011529483.2:c.2048G>A	XP_011527785.1:p.Arg683His
XM_017028284.1:c.2021G>A	XP_016883773.1:p.Arg674His
XM_017028286.2:c.1961G>A	XP_016883775.1:p.Arg654His
XM_024452057.1:c.1934G>A	XP_024307825.1:p.Arg645His
NM_001347721.2:c.2021G>A MANE Select	NP_001334650.1:p.Arg674His
NM_001347722.2:c.2021G>A	NP_001334651.1:p.Arg674His
NM_001347723.2:c.1934G>A	NP_001334652.1:p.Arg645His
NM_001396.5:c.2048G>A	NP_001387.2:p.Arg683His