Canonical Allele Identifier: CA407461889

Gene: BRSK1

Linked Data

• dbSNP Id: rs1434271676
• gnomAD v3: 19-55308669-A-T
• gnomAD v4: 19-55308669-A-T
• MyVariant Identifiers: chr19:g.55820037A>T (hg19) ; chr19:g.55308669A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308669A>T , CM000681.2:g.55308669A>T	GRCh38
NC_000019.9:g.55820037A>T , CM000681.1:g.55820037A>T	GRCh37
NC_000019.8:g.60511849A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2120A>T MANE Select	ENSP00000310649.1:p.Glu707Val
ENST00000309383.5:c.2120A>T	ENSP00000310649.1:p.Glu707Val
ENST00000326848.7:c.1205A>T	ENSP00000320853.7:p.Glu402Val
ENST00000590333.5:c.2168A>T	ENSP00000468190.1:p.Glu723Val
NM_032430.1:c.2120A>T	NP_115806.1:p.Glu707Val
XM_005259327.2:c.1850A>T	XP_005259384.1:p.Glu617Val
XM_011527395.1:c.1877A>T	XP_011525697.1:p.Glu626Val
XR_430213.2:n.2103A>T
XM_005259327.3:c.1850A>T	XP_005259384.1:p.Glu617Val
XM_011527395.2:c.1592A>T	XP_011525697.2:p.Glu531Val
XM_024451739.1:c.1895A>T	XP_024307507.1:p.Glu632Val
XR_430213.4:n.2401A>T
NM_032430.2:c.2120A>T MANE Select	NP_115806.1:p.Glu707Val