Canonical Allele Identifier: CA407461826

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820024A>G (hg19) ; chr19:g.55308656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308656A>G , CM000681.2:g.55308656A>G	GRCh38
NC_000019.9:g.55820024A>G , CM000681.1:g.55820024A>G	GRCh37
NC_000019.8:g.60511836A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2107A>G MANE Select	ENSP00000310649.1:p.Lys703Glu
ENST00000309383.5:c.2107A>G	ENSP00000310649.1:p.Lys703Glu
ENST00000326848.7:c.1192A>G	ENSP00000320853.7:p.Lys398Glu
ENST00000590333.5:c.2155A>G	ENSP00000468190.1:p.Lys719Glu
NM_032430.1:c.2107A>G	NP_115806.1:p.Lys703Glu
XM_005259327.2:c.1837A>G	XP_005259384.1:p.Lys613Glu
XM_011527395.1:c.1864A>G	XP_011525697.1:p.Lys622Glu
XR_430213.2:n.2090A>G
XM_005259327.3:c.1837A>G	XP_005259384.1:p.Lys613Glu
XM_011527395.2:c.1579A>G	XP_011525697.2:p.Lys527Glu
XM_024451739.1:c.1882A>G	XP_024307507.1:p.Lys628Glu
XR_430213.4:n.2388A>G
NM_032430.2:c.2107A>G MANE Select	NP_115806.1:p.Lys703Glu