Canonical Allele Identifier: CA2343355854

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308678A= , CM000681.2:g.55308678A=	GRCh38
NC_000019.9:g.55820046A= , CM000681.1:g.55820046A=	GRCh37
NC_000019.8:g.60511858A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2129A= MANE Select	ENSP00000310649.1:p.Gln710=
ENST00000309383.5:c.2129A=	ENSP00000310649.1:p.Gln710=
ENST00000326848.7:c.1214A=	ENSP00000320853.7:p.Gln405=
ENST00000590333.5:c.2177A=	ENSP00000468190.1:p.Gln726=
NM_032430.1:c.2129A=	NP_115806.1:p.Gln710=
XM_005259327.2:c.1859A=	XP_005259384.1:p.Gln620=
XM_011527395.1:c.1886A=	XP_011525697.1:p.Gln629=
XR_430213.2:n.2112A=
XM_005259327.3:c.1859A=	XP_005259384.1:p.Gln620=
XM_011527395.2:c.1601A=	XP_011525697.2:p.Gln534=
XM_024451739.1:c.1904A=	XP_024307507.1:p.Gln635=
XR_430213.4:n.2410A=
NM_032430.2:c.2129A= MANE Select	NP_115806.1:p.Gln710=