Canonical Allele Identifier: CA2343355842

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308648G= , CM000681.2:g.55308648G=	GRCh38
NC_000019.9:g.55820016G= , CM000681.1:g.55820016G=	GRCh37
NC_000019.8:g.60511828G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2099G= MANE Select	ENSP00000310649.1:p.Arg700=
ENST00000309383.5:c.2099G=	ENSP00000310649.1:p.Arg700=
ENST00000326848.7:c.1184G=	ENSP00000320853.7:p.Arg395=
ENST00000590333.5:c.2147G=	ENSP00000468190.1:p.Arg716=
NM_032430.1:c.2099G=	NP_115806.1:p.Arg700=
XM_005259327.2:c.1829G=	XP_005259384.1:p.Arg610=
XM_011527395.1:c.1856G=	XP_011525697.1:p.Arg619=
XR_430213.2:n.2082G=
XM_005259327.3:c.1829G=	XP_005259384.1:p.Arg610=
XM_011527395.2:c.1571G=	XP_011525697.2:p.Arg524=
XM_024451739.1:c.1874G=	XP_024307507.1:p.Arg625=
XR_430213.4:n.2380G=
NM_032430.2:c.2099G= MANE Select	NP_115806.1:p.Arg700=