Canonical Allele Identifier: CA10024150

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 515685
• ClinVar RCV Id: RCV001215853 ; RCV001698434
• dbSNP Id: rs201554841
• ExAC: 21:38884589 C / T
• gnomAD v2: 21-38884589-C-T
• gnomAD v3: 21-37512286-C-T
• gnomAD v4: 21-37512286-C-T
• COSMIC: COSM1713983
• MyVariant Identifiers: chr21:g.38884589C>T (hg19) ; chr21:g.37512286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37512286C>T , CM000683.2:g.37512286C>T	GRCh38
NC_000021.8:g.38884589C>T , CM000683.1:g.38884589C>T	GRCh37
NC_000021.7:g.37806459C>T	NCBI36
NG_009366.1:g.149731C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.*423C>T	ENSP00000342690.3:n.*423C>T
ENST00000398960.7:c.2047C>T	ENSP00000381932.2:p.Arg683Cys
ENST00000643624.1:c.2020C>T	ENSP00000493627.1:p.Arg674Cys
ENST00000644942.1:c.2047C>T	ENSP00000494544.1:p.Arg683Cys
ENST00000646224.1:n.1462C>T
ENST00000646548.1:c.2020C>T	ENSP00000495908.1:p.Arg674Cys
ENST00000647188.2:c.2020C>T MANE Select	ENSP00000494572.1:p.Arg674Cys
ENST00000647425.1:c.2020C>T	ENSP00000496748.1:p.Arg674Cys
ENST00000647504.1:c.1933C>T	ENSP00000495571.1:p.Arg645Cys
ENST00000338785.7:c.*423C>T	ENSP00000342690.3:n.*423C>T
ENST00000339659.8:c.2020C>T	ENSP00000340373.3:p.Arg674Cys
ENST00000398960.6:c.2047C>T	ENSP00000381932.2:p.Arg683Cys
NM_001396.3:c.2047C>T	NP_001387.2:p.Arg683Cys
NM_101395.2:c.*423C>T	NP_567824.1:n.*423C>T
NM_130436.2:c.2020C>T	NP_569120.1:p.Arg674Cys
NM_130438.2:c.*332C>T	NP_569122.1:n.*332C>T
XM_005260931.3:c.1960C>T	XP_005260988.1:p.Arg654Cys
XM_005260933.3:c.1363C>T	XP_005260990.1:p.Arg455Cys
XM_006723976.2:c.2047C>T	XP_006724039.1:p.Arg683Cys
XM_006723977.2:c.2047C>T	XP_006724040.1:p.Arg683Cys
XM_006723978.2:c.2047C>T	XP_006724041.1:p.Arg683Cys
XM_006723979.2:c.2020C>T	XP_006724042.1:p.Arg674Cys
XM_011529482.1:c.2068C>T	XP_011527784.1:p.Arg690Cys
XM_011529483.1:c.2047C>T	XP_011527785.1:p.Arg683Cys
XM_011529484.1:c.2041C>T	XP_011527786.1:p.Arg681Cys
XM_011529485.1:c.1933C>T	XP_011527787.1:p.Arg645Cys
NM_001347721.1:c.2020C>T	NP_001334650.1:p.Arg674Cys
NM_001347722.1:c.2020C>T	NP_001334651.1:p.Arg674Cys
NM_001347723.1:c.1933C>T	NP_001334652.1:p.Arg645Cys
NM_001396.4:c.2047C>T	NP_001387.2:p.Arg683Cys
XM_005260933.5:c.1363C>T	XP_005260990.1:p.Arg455Cys
XM_006723976.3:c.2047C>T	XP_006724039.1:p.Arg683Cys
XM_006723977.3:c.2047C>T	XP_006724040.1:p.Arg683Cys
XM_006723978.3:c.2047C>T	XP_006724041.1:p.Arg683Cys
XM_011529483.2:c.2047C>T	XP_011527785.1:p.Arg683Cys
XM_017028284.1:c.2020C>T	XP_016883773.1:p.Arg674Cys
XM_017028286.2:c.1960C>T	XP_016883775.1:p.Arg654Cys
XM_024452057.1:c.1933C>T	XP_024307825.1:p.Arg645Cys
NM_001347721.2:c.2020C>T MANE Select	NP_001334650.1:p.Arg674Cys
NM_001347722.2:c.2020C>T	NP_001334651.1:p.Arg674Cys
NM_001347723.2:c.1933C>T	NP_001334652.1:p.Arg645Cys
NM_001396.5:c.2047C>T	NP_001387.2:p.Arg683Cys