Canonical Allele Identifier: CA508995550

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308721-C-A
• MyVariant Identifiers: chr19:g.55820089C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308721C>A , CM000681.2:g.55308721C>A	GRCh38
NC_000019.9:g.55820089C>A , CM000681.1:g.55820089C>A	GRCh37
NC_000019.8:g.60511901C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2172C>A MANE Select	ENSP00000310649.1:p.Ala724=
ENST00000309383.5:c.2172C>A	ENSP00000310649.1:p.Ala724=
ENST00000326848.7:c.1257C>A	ENSP00000320853.7:p.Ala419=
ENST00000590333.5:c.2220C>A	ENSP00000468190.1:p.Ala740=
NM_032430.1:c.2172C>A	NP_115806.1:p.Ala724=
XM_005259327.2:c.1902C>A	XP_005259384.1:p.Ala634=
XM_011527395.1:c.1929C>A	XP_011525697.1:p.Ala643=
XR_430213.2:n.2155C>A
XM_005259327.3:c.1902C>A	XP_005259384.1:p.Ala634=
XM_011527395.2:c.1644C>A	XP_011525697.2:p.Ala548=
XM_024451739.1:c.1947C>A	XP_024307507.1:p.Ala649=
XR_430213.4:n.2453C>A
NM_032430.2:c.2172C>A MANE Select	NP_115806.1:p.Ala724=