Canonical Allele Identifier: CA2343355849

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308662G= , CM000681.2:g.55308662G=	GRCh38
NC_000019.9:g.55820030G= , CM000681.1:g.55820030G=	GRCh37
NC_000019.8:g.60511842G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2113G= MANE Select	ENSP00000310649.1:p.Val705=
ENST00000309383.5:c.2113G=	ENSP00000310649.1:p.Val705=
ENST00000326848.7:c.1198G=	ENSP00000320853.7:p.Val400=
ENST00000590333.5:c.2161G=	ENSP00000468190.1:p.Val721=
NM_032430.1:c.2113G=	NP_115806.1:p.Val705=
XM_005259327.2:c.1843G=	XP_005259384.1:p.Val615=
XM_011527395.1:c.1870G=	XP_011525697.1:p.Val624=
XR_430213.2:n.2096G=
XM_005259327.3:c.1843G=	XP_005259384.1:p.Val615=
XM_011527395.2:c.1585G=	XP_011525697.2:p.Val529=
XM_024451739.1:c.1888G=	XP_024307507.1:p.Val630=
XR_430213.4:n.2394G=
NM_032430.2:c.2113G= MANE Select	NP_115806.1:p.Val705=