Canonical Allele Identifier: CA407462080

Gene: BRSK1

Linked Data

• ClinVar Variation Id: 2558975
• ClinVar RCV Id: RCV004325762
• MyVariant Identifiers: chr19:g.55820073A>G (hg19) ; chr19:g.55308705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308705A>G , CM000681.2:g.55308705A>G	GRCh38
NC_000019.9:g.55820073A>G , CM000681.1:g.55820073A>G	GRCh37
NC_000019.8:g.60511885A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2156A>G MANE Select	ENSP00000310649.1:p.Gln719Arg
ENST00000309383.5:c.2156A>G	ENSP00000310649.1:p.Gln719Arg
ENST00000326848.7:c.1241A>G	ENSP00000320853.7:p.Gln414Arg
ENST00000590333.5:c.2204A>G	ENSP00000468190.1:p.Gln735Arg
NM_032430.1:c.2156A>G	NP_115806.1:p.Gln719Arg
XM_005259327.2:c.1886A>G	XP_005259384.1:p.Gln629Arg
XM_011527395.1:c.1913A>G	XP_011525697.1:p.Gln638Arg
XR_430213.2:n.2139A>G
XM_005259327.3:c.1886A>G	XP_005259384.1:p.Gln629Arg
XM_011527395.2:c.1628A>G	XP_011525697.2:p.Gln543Arg
XM_024451739.1:c.1931A>G	XP_024307507.1:p.Gln644Arg
XR_430213.4:n.2437A>G
NM_032430.2:c.2156A>G MANE Select	NP_115806.1:p.Gln719Arg