Canonical Allele Identifier: CA407462105

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308710-T-A
• MyVariant Identifiers: chr19:g.55820078T>A (hg19) ; chr19:g.55308710T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308710T>A , CM000681.2:g.55308710T>A	GRCh38
NC_000019.9:g.55820078T>A , CM000681.1:g.55820078T>A	GRCh37
NC_000019.8:g.60511890T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2161T>A MANE Select	ENSP00000310649.1:p.Ser721Thr
ENST00000309383.5:c.2161T>A	ENSP00000310649.1:p.Ser721Thr
ENST00000326848.7:c.1246T>A	ENSP00000320853.7:p.Ser416Thr
ENST00000590333.5:c.2209T>A	ENSP00000468190.1:p.Ser737Thr
NM_032430.1:c.2161T>A	NP_115806.1:p.Ser721Thr
XM_005259327.2:c.1891T>A	XP_005259384.1:p.Ser631Thr
XM_011527395.1:c.1918T>A	XP_011525697.1:p.Ser640Thr
XR_430213.2:n.2144T>A
XM_005259327.3:c.1891T>A	XP_005259384.1:p.Ser631Thr
XM_011527395.2:c.1633T>A	XP_011525697.2:p.Ser545Thr
XM_024451739.1:c.1936T>A	XP_024307507.1:p.Ser646Thr
XR_430213.4:n.2442T>A
NM_032430.2:c.2161T>A MANE Select	NP_115806.1:p.Ser721Thr