Canonical Allele Identifier: CA633862576

Gene: BRSK1

Linked Data

• dbSNP Id: rs1332126408
• gnomAD v2: 19-55820138-G-A
• gnomAD v4: 19-55308770-G-A
• MyVariant Identifiers: chr19:g.55820138G>A (hg19) ; chr19:g.55308770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308770G>A , CM000681.2:g.55308770G>A	GRCh38
NC_000019.9:g.55820138G>A , CM000681.1:g.55820138G>A	GRCh37
NC_000019.8:g.60511950G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+42G>A MANE Select	ENSP00000310649.1:n.2179+42G>A
ENST00000309383.5:c.2179+42G>A	ENSP00000310649.1:n.2179+42G>A
ENST00000326848.7:c.1264+42G>A	ENSP00000320853.7:n.1264+42G>A
ENST00000590333.5:c.2227+42G>A	ENSP00000468190.1:n.2227+42G>A
NM_032430.1:c.2179+42G>A	NP_115806.1:n.2179+42G>A
XM_005259327.2:c.1909+42G>A	XP_005259384.1:n.1909+42G>A
XM_011527395.1:c.1936+42G>A	XP_011525697.1:n.1936+42G>A
XR_430213.2:n.2162+42G>A
XM_005259327.3:c.1909+42G>A	XP_005259384.1:n.1909+42G>A
XM_011527395.2:c.1651+42G>A	XP_011525697.2:n.1651+42G>A
XM_024451739.1:c.1954+42G>A	XP_024307507.1:n.1954+42G>A
XR_430213.4:n.2460+42G>A
NM_032430.2:c.2179+42G>A MANE Select	NP_115806.1:n.2179+42G>A