Canonical Allele Identifier: CA407461866

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308665-G-A
• MyVariant Identifiers: chr19:g.55820033G>A (hg19) ; chr19:g.55308665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308665G>A , CM000681.2:g.55308665G>A	GRCh38
NC_000019.9:g.55820033G>A , CM000681.1:g.55820033G>A	GRCh37
NC_000019.8:g.60511845G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2116G>A MANE Select	ENSP00000310649.1:p.Val706Met
ENST00000309383.5:c.2116G>A	ENSP00000310649.1:p.Val706Met
ENST00000326848.7:c.1201G>A	ENSP00000320853.7:p.Val401Met
ENST00000590333.5:c.2164G>A	ENSP00000468190.1:p.Val722Met
NM_032430.1:c.2116G>A	NP_115806.1:p.Val706Met
XM_005259327.2:c.1846G>A	XP_005259384.1:p.Val616Met
XM_011527395.1:c.1873G>A	XP_011525697.1:p.Val625Met
XR_430213.2:n.2099G>A
XM_005259327.3:c.1846G>A	XP_005259384.1:p.Val616Met
XM_011527395.2:c.1588G>A	XP_011525697.2:p.Val530Met
XM_024451739.1:c.1891G>A	XP_024307507.1:p.Val631Met
XR_430213.4:n.2397G>A
NM_032430.2:c.2116G>A MANE Select	NP_115806.1:p.Val706Met