Canonical Allele Identifier: CA2343355866

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308713G= , CM000681.2:g.55308713G=	GRCh38
NC_000019.9:g.55820081G= , CM000681.1:g.55820081G=	GRCh37
NC_000019.8:g.60511893G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2164G= MANE Select	ENSP00000310649.1:p.Val722=
ENST00000309383.5:c.2164G=	ENSP00000310649.1:p.Val722=
ENST00000326848.7:c.1249G=	ENSP00000320853.7:p.Val417=
ENST00000590333.5:c.2212G=	ENSP00000468190.1:p.Val738=
NM_032430.1:c.2164G=	NP_115806.1:p.Val722=
XM_005259327.2:c.1894G=	XP_005259384.1:p.Val632=
XM_011527395.1:c.1921G=	XP_011525697.1:p.Val641=
XR_430213.2:n.2147G=
XM_005259327.3:c.1894G=	XP_005259384.1:p.Val632=
XM_011527395.2:c.1636G=	XP_011525697.2:p.Val546=
XM_024451739.1:c.1939G=	XP_024307507.1:p.Val647=
XR_430213.4:n.2445G=
NM_032430.2:c.2164G= MANE Select	NP_115806.1:p.Val722=