Canonical Allele Identifier: CA409947400

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 2720073
• ClinVar RCV Id: RCV003529149
• MyVariant Identifiers: chr21:g.38862546T>C (hg19) ; chr21:g.37490244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37490244T>C , CM000683.2:g.37490244T>C	GRCh38
NC_000021.8:g.38862546T>C , CM000683.1:g.38862546T>C	GRCh37
NC_000021.7:g.37784416T>C	NCBI36
NG_009366.1:g.127688T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.734T>C	ENSP00000342690.3:p.Leu245Pro
ENST00000398960.7:c.734T>C	ENSP00000381932.2:p.Leu245Pro
ENST00000642309.1:c.620T>C	ENSP00000495596.1:p.Leu207Pro
ENST00000643624.1:c.707T>C	ENSP00000493627.1:p.Leu236Pro
ENST00000643808.1:n.537T>C
ENST00000643854.1:c.620T>C	ENSP00000493653.1:p.Leu207Pro
ENST00000644367.1:n.98T>C
ENST00000644942.1:c.734T>C	ENSP00000494544.1:p.Leu245Pro
ENST00000645424.1:c.734T>C	ENSP00000494897.1:p.Leu245Pro
ENST00000645774.1:c.755T>C	ENSP00000494536.1:p.Leu252Pro
ENST00000646224.1:n.149T>C
ENST00000646523.1:c.734T>C	ENSP00000495632.1:p.Leu245Pro
ENST00000646548.1:c.707T>C	ENSP00000495908.1:p.Leu236Pro
ENST00000647188.2:c.707T>C MANE Select	ENSP00000494572.1:p.Leu236Pro
ENST00000647425.1:c.707T>C	ENSP00000496748.1:p.Leu236Pro
ENST00000647504.1:c.620T>C	ENSP00000495571.1:p.Leu207Pro
ENST00000338785.7:c.734T>C	ENSP00000342690.3:p.Leu245Pro
ENST00000339659.8:c.707T>C	ENSP00000340373.3:p.Leu236Pro
ENST00000398956.2:c.734T>C	ENSP00000381929.2:p.Leu245Pro
ENST00000398960.6:c.734T>C	ENSP00000381932.2:p.Leu245Pro
NM_001396.3:c.734T>C	NP_001387.2:p.Leu245Pro
NM_101395.2:c.734T>C	NP_567824.1:p.Leu245Pro
NM_130436.2:c.707T>C	NP_569120.1:p.Leu236Pro
NM_130438.2:c.734T>C	NP_569122.1:p.Leu245Pro
XM_005260931.3:c.647T>C	XP_005260988.1:p.Leu216Pro
XM_005260933.3:c.50T>C	XP_005260990.1:p.Leu17Pro
XM_006723976.2:c.734T>C	XP_006724039.1:p.Leu245Pro
XM_006723977.2:c.734T>C	XP_006724040.1:p.Leu245Pro
XM_006723978.2:c.734T>C	XP_006724041.1:p.Leu245Pro
XM_006723979.2:c.707T>C	XP_006724042.1:p.Leu236Pro
XM_011529482.1:c.755T>C	XP_011527784.1:p.Leu252Pro
XM_011529483.1:c.734T>C	XP_011527785.1:p.Leu245Pro
XM_011529484.1:c.728T>C	XP_011527786.1:p.Leu243Pro
XM_011529485.1:c.620T>C	XP_011527787.1:p.Leu207Pro
NM_001347721.1:c.707T>C	NP_001334650.1:p.Leu236Pro
NM_001347722.1:c.707T>C	NP_001334651.1:p.Leu236Pro
NM_001347723.1:c.620T>C	NP_001334652.1:p.Leu207Pro
NM_001396.4:c.734T>C	NP_001387.2:p.Leu245Pro
XM_005260933.5:c.50T>C	XP_005260990.1:p.Leu17Pro
XM_006723976.3:c.734T>C	XP_006724039.1:p.Leu245Pro
XM_006723977.3:c.734T>C	XP_006724040.1:p.Leu245Pro
XM_006723978.3:c.734T>C	XP_006724041.1:p.Leu245Pro
XM_011529483.2:c.734T>C	XP_011527785.1:p.Leu245Pro
XM_017028284.1:c.707T>C	XP_016883773.1:p.Leu236Pro
XM_017028286.2:c.647T>C	XP_016883775.1:p.Leu216Pro
XM_024452057.1:c.620T>C	XP_024307825.1:p.Leu207Pro
NM_001347721.2:c.707T>C MANE Select	NP_001334650.1:p.Leu236Pro
NM_001347722.2:c.707T>C	NP_001334651.1:p.Leu236Pro
NM_001347723.2:c.620T>C	NP_001334652.1:p.Leu207Pro
NM_001396.5:c.734T>C	NP_001387.2:p.Leu245Pro