Canonical Allele Identifier: CA407461794

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820016G>T (hg19) ; chr19:g.55308648G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2099G>T MANE Select	ENSP00000310649.1:p.Arg700Leu
ENST00000309383.5:c.2099G>T	ENSP00000310649.1:p.Arg700Leu
ENST00000326848.7:c.1184G>T	ENSP00000320853.7:p.Arg395Leu
ENST00000590333.5:c.2147G>T	ENSP00000468190.1:p.Arg716Leu
NM_032430.1:c.2099G>T	NP_115806.1:p.Arg700Leu
XM_005259327.2:c.1829G>T	XP_005259384.1:p.Arg610Leu
XM_011527395.1:c.1856G>T	XP_011525697.1:p.Arg619Leu
XR_430213.2:n.2082G>T
XM_005259327.3:c.1829G>T	XP_005259384.1:p.Arg610Leu
XM_011527395.2:c.1571G>T	XP_011525697.2:p.Arg524Leu
XM_024451739.1:c.1874G>T	XP_024307507.1:p.Arg625Leu
XR_430213.4:n.2380G>T
NM_032430.2:c.2099G>T MANE Select	NP_115806.1:p.Arg700Leu