Canonical Allele Identifier: CA278526

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 204005
• ClinVar RCV Id: RCV000190479 ; RCV000522958 ; RCV001731507
• dbSNP Id: rs797044520
• COSMIC: COSM230810
• MyVariant Identifiers: chr21:g.38877745C>T (hg19) ; chr21:g.37505442C>T (hg38)
• PubMed: PMID:24088041 ; PMID:25944381 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37505442C>T , CM000683.2:g.37505442C>T	GRCh38
NC_000021.8:g.38877745C>T , CM000683.1:g.38877745C>T	GRCh37
NC_000021.7:g.37799615C>T	NCBI36
NG_009366.1:g.142887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.1399C>T	ENSP00000342690.3:p.Arg467Ter
ENST00000398960.7:c.1399C>T	ENSP00000381932.2:p.Arg467Ter
ENST00000643624.1:c.1372C>T	ENSP00000493627.1:p.Arg458Ter
ENST00000644367.1:n.763C>T
ENST00000644942.1:c.1399C>T	ENSP00000494544.1:p.Arg467Ter
ENST00000645424.1:c.1399C>T	ENSP00000494897.1:p.Arg467Ter
ENST00000645774.1:c.1447C>T	ENSP00000494536.1:p.Arg483Ter
ENST00000646224.1:n.814C>T
ENST00000646351.1:n.4117C>T
ENST00000646523.1:c.1399C>T	ENSP00000495632.1:p.Arg467Ter
ENST00000646548.1:c.1372C>T	ENSP00000495908.1:p.Arg458Ter
ENST00000647188.2:c.1372C>T MANE Select	ENSP00000494572.1:p.Arg458Ter
ENST00000647425.1:c.1372C>T	ENSP00000496748.1:p.Arg458Ter
ENST00000647504.1:c.1285C>T	ENSP00000495571.1:p.Arg429Ter
ENST00000338785.7:c.1399C>T	ENSP00000342690.3:p.Arg467Ter
ENST00000339659.8:c.1372C>T	ENSP00000340373.3:p.Arg458Ter
ENST00000398956.2:c.1399C>T	ENSP00000381929.2:p.Arg467Ter
ENST00000398960.6:c.1399C>T	ENSP00000381932.2:p.Arg467Ter
NM_001396.3:c.1399C>T	NP_001387.2:p.Arg467Ter
NM_101395.2:c.1399C>T	NP_567824.1:p.Arg467Ter
NM_130436.2:c.1372C>T	NP_569120.1:p.Arg458Ter
NM_130438.2:c.1399C>T	NP_569122.1:p.Arg467Ter
XM_005260931.3:c.1312C>T	XP_005260988.1:p.Arg438Ter
XM_005260933.3:c.715C>T	XP_005260990.1:p.Arg239Ter
XM_006723976.2:c.1399C>T	XP_006724039.1:p.Arg467Ter
XM_006723977.2:c.1399C>T	XP_006724040.1:p.Arg467Ter
XM_006723978.2:c.1399C>T	XP_006724041.1:p.Arg467Ter
XM_006723979.2:c.1372C>T	XP_006724042.1:p.Arg458Ter
XM_011529482.1:c.1420C>T	XP_011527784.1:p.Arg474Ter
XM_011529483.1:c.1399C>T	XP_011527785.1:p.Arg467Ter
XM_011529484.1:c.1393C>T	XP_011527786.1:p.Arg465Ter
XM_011529485.1:c.1285C>T	XP_011527787.1:p.Arg429Ter
NM_001347721.1:c.1372C>T	NP_001334650.1:p.Arg458Ter
NM_001347722.1:c.1372C>T	NP_001334651.1:p.Arg458Ter
NM_001347723.1:c.1285C>T	NP_001334652.1:p.Arg429Ter
NM_001396.4:c.1399C>T	NP_001387.2:p.Arg467Ter
XM_005260933.5:c.715C>T	XP_005260990.1:p.Arg239Ter
XM_006723976.3:c.1399C>T	XP_006724039.1:p.Arg467Ter
XM_006723977.3:c.1399C>T	XP_006724040.1:p.Arg467Ter
XM_006723978.3:c.1399C>T	XP_006724041.1:p.Arg467Ter
XM_011529483.2:c.1399C>T	XP_011527785.1:p.Arg467Ter
XM_017028284.1:c.1372C>T	XP_016883773.1:p.Arg458Ter
XM_017028286.2:c.1312C>T	XP_016883775.1:p.Arg438Ter
XM_024452057.1:c.1285C>T	XP_024307825.1:p.Arg429Ter
NM_001347721.2:c.1372C>T MANE Select	NP_001334650.1:p.Arg458Ter
NM_001347722.2:c.1372C>T	NP_001334651.1:p.Arg458Ter
NM_001347723.2:c.1285C>T	NP_001334652.1:p.Arg429Ter
NM_001396.5:c.1399C>T	NP_001387.2:p.Arg467Ter