Canonical Allele Identifier: CA409940236

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 546039
• ClinVar RCV Id: RCV000657796
• dbSNP Id: rs1555995130
• MyVariant Identifiers: chr21:g.38884582C>A (hg19) ; chr21:g.37512279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37512279C>A , CM000683.2:g.37512279C>A	GRCh38
NC_000021.8:g.38884582C>A , CM000683.1:g.38884582C>A	GRCh37
NC_000021.7:g.37806452C>A	NCBI36
NG_009366.1:g.149724C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.*416C>A	ENSP00000342690.3:n.*416C>A
ENST00000398960.7:c.2040C>A	ENSP00000381932.2:p.Tyr680Ter
ENST00000643624.1:c.2013C>A	ENSP00000493627.1:p.Tyr671Ter
ENST00000644942.1:c.2040C>A	ENSP00000494544.1:p.Tyr680Ter
ENST00000646224.1:n.1455C>A
ENST00000646548.1:c.2013C>A	ENSP00000495908.1:p.Tyr671Ter
ENST00000647188.2:c.2013C>A MANE Select	ENSP00000494572.1:p.Tyr671Ter
ENST00000647425.1:c.2013C>A	ENSP00000496748.1:p.Tyr671Ter
ENST00000647504.1:c.1926C>A	ENSP00000495571.1:p.Tyr642Ter
ENST00000338785.7:c.*416C>A	ENSP00000342690.3:n.*416C>A
ENST00000339659.8:c.2013C>A	ENSP00000340373.3:p.Tyr671Ter
ENST00000398960.6:c.2040C>A	ENSP00000381932.2:p.Tyr680Ter
NM_001396.3:c.2040C>A	NP_001387.2:p.Tyr680Ter
NM_101395.2:c.*416C>A	NP_567824.1:n.*416C>A
NM_130436.2:c.2013C>A	NP_569120.1:p.Tyr671Ter
NM_130438.2:c.*325C>A	NP_569122.1:n.*325C>A
XM_005260931.3:c.1953C>A	XP_005260988.1:p.Tyr651Ter
XM_005260933.3:c.1356C>A	XP_005260990.1:p.Tyr452Ter
XM_006723976.2:c.2040C>A	XP_006724039.1:p.Tyr680Ter
XM_006723977.2:c.2040C>A	XP_006724040.1:p.Tyr680Ter
XM_006723978.2:c.2040C>A	XP_006724041.1:p.Tyr680Ter
XM_006723979.2:c.2013C>A	XP_006724042.1:p.Tyr671Ter
XM_011529482.1:c.2061C>A	XP_011527784.1:p.Tyr687Ter
XM_011529483.1:c.2040C>A	XP_011527785.1:p.Tyr680Ter
XM_011529484.1:c.2034C>A	XP_011527786.1:p.Tyr678Ter
XM_011529485.1:c.1926C>A	XP_011527787.1:p.Tyr642Ter
NM_001347721.1:c.2013C>A	NP_001334650.1:p.Tyr671Ter
NM_001347722.1:c.2013C>A	NP_001334651.1:p.Tyr671Ter
NM_001347723.1:c.1926C>A	NP_001334652.1:p.Tyr642Ter
NM_001396.4:c.2040C>A	NP_001387.2:p.Tyr680Ter
XM_005260933.5:c.1356C>A	XP_005260990.1:p.Tyr452Ter
XM_006723976.3:c.2040C>A	XP_006724039.1:p.Tyr680Ter
XM_006723977.3:c.2040C>A	XP_006724040.1:p.Tyr680Ter
XM_006723978.3:c.2040C>A	XP_006724041.1:p.Tyr680Ter
XM_011529483.2:c.2040C>A	XP_011527785.1:p.Tyr680Ter
XM_017028284.1:c.2013C>A	XP_016883773.1:p.Tyr671Ter
XM_017028286.2:c.1953C>A	XP_016883775.1:p.Tyr651Ter
XM_024452057.1:c.1926C>A	XP_024307825.1:p.Tyr642Ter
NM_001347721.2:c.2013C>A MANE Select	NP_001334650.1:p.Tyr671Ter
NM_001347722.2:c.2013C>A	NP_001334651.1:p.Tyr671Ter
NM_001347723.2:c.1926C>A	NP_001334652.1:p.Tyr642Ter
NM_001396.5:c.2040C>A	NP_001387.2:p.Tyr680Ter