Canonical Allele Identifier: CA9434102
Community Standard Title: NM_004714.3(DYRK1B):c.1269G>T (p.Leu423=)
Gene: DYRK1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39826814C>A , CM000681.2:g.39826814C>A GRCh38
NC_000019.9:g.40317454C>A , CM000681.1:g.40317454C>A GRCh37
NC_000019.8:g.45009294C>A NCBI36
NG_034145.1:g.12420G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004714.3:c.1269G>T MANE Select NP_004705.1:p.Leu423=
ENST00000323039.10:c.1269G>T MANE Select ENSP00000312789.4:p.Leu423=
NM_004714.2:c.1269G>T NP_004705.1:p.Leu423=
NM_006483.2:c.1149G>T NP_006474.1:p.Leu383=
NM_006483.3:c.1149G>T NP_006474.1:p.Leu383=
NM_006484.2:c.1185G>T NP_006475.1:p.Leu395=
NM_006484.3:c.1185G>T NP_006475.1:p.Leu395=
ENST00000323039.9:c.1269G>T ENSP00000312789.4:p.Leu423=
ENST00000348817.7:c.1185G>T ENSP00000221803.4:p.Leu395=
ENST00000430012.6:c.1149G>T ENSP00000403182.1:p.Leu383=
ENST00000593685.5:c.1269G>T ENSP00000469863.1:p.Leu423=
ENST00000597639.5:c.1185G>T ENSP00000472941.1:p.Leu395=
XM_005259395.2:c.1449G>T XP_005259452.1:p.Leu483=
XM_005259398.3:c.1269G>T XP_005259455.1:p.Leu423=
XM_005259398.4:c.1269G>T XP_005259455.1:p.Leu423=
XM_011527469.1:c.1365G>T XP_011525771.1:p.Leu455=
XM_011527470.1:c.1329G>T XP_011525772.1:p.Leu443=