Canonical Allele Identifier: CA2343355868

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308721C= , CM000681.2:g.55308721C=	GRCh38
NC_000019.9:g.55820089C= , CM000681.1:g.55820089C=	GRCh37
NC_000019.8:g.60511901C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2172C= MANE Select	ENSP00000310649.1:p.Ala724=
ENST00000309383.5:c.2172C=	ENSP00000310649.1:p.Ala724=
ENST00000326848.7:c.1257C=	ENSP00000320853.7:p.Ala419=
ENST00000590333.5:c.2220C=	ENSP00000468190.1:p.Ala740=
NM_032430.1:c.2172C=	NP_115806.1:p.Ala724=
XM_005259327.2:c.1902C=	XP_005259384.1:p.Ala634=
XM_011527395.1:c.1929C=	XP_011525697.1:p.Ala643=
XR_430213.2:n.2155C=
XM_005259327.3:c.1902C=	XP_005259384.1:p.Ala634=
XM_011527395.2:c.1644C=	XP_011525697.2:p.Ala548=
XM_024451739.1:c.1947C=	XP_024307507.1:p.Ala649=
XR_430213.4:n.2453C=
NM_032430.2:c.2172C= MANE Select	NP_115806.1:p.Ala724=