Canonical Allele Identifier: CA2343355867

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308719G= , CM000681.2:g.55308719G=	GRCh38
NC_000019.9:g.55820087G= , CM000681.1:g.55820087G=	GRCh37
NC_000019.8:g.60511899G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2170G= MANE Select	ENSP00000310649.1:p.Ala724=
ENST00000309383.5:c.2170G=	ENSP00000310649.1:p.Ala724=
ENST00000326848.7:c.1255G=	ENSP00000320853.7:p.Ala419=
ENST00000590333.5:c.2218G=	ENSP00000468190.1:p.Ala740=
NM_032430.1:c.2170G=	NP_115806.1:p.Ala724=
XM_005259327.2:c.1900G=	XP_005259384.1:p.Ala634=
XM_011527395.1:c.1927G=	XP_011525697.1:p.Ala643=
XR_430213.2:n.2153G=
XM_005259327.3:c.1900G=	XP_005259384.1:p.Ala634=
XM_011527395.2:c.1642G=	XP_011525697.2:p.Ala548=
XM_024451739.1:c.1945G=	XP_024307507.1:p.Ala649=
XR_430213.4:n.2451G=
NM_032430.2:c.2170G= MANE Select	NP_115806.1:p.Ala724=