Canonical Allele Identifier: CA407462053

Gene: BRSK1

Linked Data

• dbSNP Id: rs1466898660
• gnomAD v2: 19-55820067-A-T
• gnomAD v4: 19-55308699-A-T
• MyVariant Identifiers: chr19:g.55820067A>T (hg19) ; chr19:g.55308699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308699A>T , CM000681.2:g.55308699A>T	GRCh38
NC_000019.9:g.55820067A>T , CM000681.1:g.55820067A>T	GRCh37
NC_000019.8:g.60511879A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2150A>T MANE Select	ENSP00000310649.1:p.His717Leu
ENST00000309383.5:c.2150A>T	ENSP00000310649.1:p.His717Leu
ENST00000326848.7:c.1235A>T	ENSP00000320853.7:p.His412Leu
ENST00000590333.5:c.2198A>T	ENSP00000468190.1:p.His733Leu
NM_032430.1:c.2150A>T	NP_115806.1:p.His717Leu
XM_005259327.2:c.1880A>T	XP_005259384.1:p.His627Leu
XM_011527395.1:c.1907A>T	XP_011525697.1:p.His636Leu
XR_430213.2:n.2133A>T
XM_005259327.3:c.1880A>T	XP_005259384.1:p.His627Leu
XM_011527395.2:c.1622A>T	XP_011525697.2:p.His541Leu
XM_024451739.1:c.1925A>T	XP_024307507.1:p.His642Leu
XR_430213.4:n.2431A>T
NM_032430.2:c.2150A>T MANE Select	NP_115806.1:p.His717Leu