Canonical Allele Identifier: CA508995466

Gene: BRSK1

Linked Data

• dbSNP Id: rs1203364703
• gnomAD v2: 19-55820027-C-A
• gnomAD v3: 19-55308659-C-A
• gnomAD v4: 19-55308659-C-A
• MyVariant Identifiers: chr19:g.55820027C>A (hg19) ; chr19:g.55308659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308659C>A , CM000681.2:g.55308659C>A	GRCh38
NC_000019.9:g.55820027C>A , CM000681.1:g.55820027C>A	GRCh37
NC_000019.8:g.60511839C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2110C>A MANE Select	ENSP00000310649.1:p.Arg704=
ENST00000309383.5:c.2110C>A	ENSP00000310649.1:p.Arg704=
ENST00000326848.7:c.1195C>A	ENSP00000320853.7:p.Arg399=
ENST00000590333.5:c.2158C>A	ENSP00000468190.1:p.Arg720=
NM_032430.1:c.2110C>A	NP_115806.1:p.Arg704=
XM_005259327.2:c.1840C>A	XP_005259384.1:p.Arg614=
XM_011527395.1:c.1867C>A	XP_011525697.1:p.Arg623=
XR_430213.2:n.2093C>A
XM_005259327.3:c.1840C>A	XP_005259384.1:p.Arg614=
XM_011527395.2:c.1582C>A	XP_011525697.2:p.Arg528=
XM_024451739.1:c.1885C>A	XP_024307507.1:p.Arg629=
XR_430213.4:n.2391C>A
NM_032430.2:c.2110C>A MANE Select	NP_115806.1:p.Arg704=