Canonical Allele Identifier: CA407461797

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308651-G-A
• MyVariant Identifiers: chr19:g.55820019G>A (hg19) ; chr19:g.55308651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308651G>A , CM000681.2:g.55308651G>A	GRCh38
NC_000019.9:g.55820019G>A , CM000681.1:g.55820019G>A	GRCh37
NC_000019.8:g.60511831G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2102G>A MANE Select	ENSP00000310649.1:p.Arg701Gln
ENST00000309383.5:c.2102G>A	ENSP00000310649.1:p.Arg701Gln
ENST00000326848.7:c.1187G>A	ENSP00000320853.7:p.Arg396Gln
ENST00000590333.5:c.2150G>A	ENSP00000468190.1:p.Arg717Gln
NM_032430.1:c.2102G>A	NP_115806.1:p.Arg701Gln
XM_005259327.2:c.1832G>A	XP_005259384.1:p.Arg611Gln
XM_011527395.1:c.1859G>A	XP_011525697.1:p.Arg620Gln
XR_430213.2:n.2085G>A
XM_005259327.3:c.1832G>A	XP_005259384.1:p.Arg611Gln
XM_011527395.2:c.1574G>A	XP_011525697.2:p.Arg525Gln
XM_024451739.1:c.1877G>A	XP_024307507.1:p.Arg626Gln
XR_430213.4:n.2383G>A
NM_032430.2:c.2102G>A MANE Select	NP_115806.1:p.Arg701Gln