Canonical Allele Identifier: CA508995508

Gene: BRSK1

Linked Data

• dbSNP Id: rs1216019438
• gnomAD v2: 19-55820056-C-T
• MyVariant Identifiers: chr19:g.55820056C>T (hg19) ; chr19:g.55308688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308688C>T , CM000681.2:g.55308688C>T	GRCh38
NC_000019.9:g.55820056C>T , CM000681.1:g.55820056C>T	GRCh37
NC_000019.8:g.60511868C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2139C>T MANE Select	ENSP00000310649.1:p.Leu713=
ENST00000309383.5:c.2139C>T	ENSP00000310649.1:p.Leu713=
ENST00000326848.7:c.1224C>T	ENSP00000320853.7:p.Leu408=
ENST00000590333.5:c.2187C>T	ENSP00000468190.1:p.Leu729=
NM_032430.1:c.2139C>T	NP_115806.1:p.Leu713=
XM_005259327.2:c.1869C>T	XP_005259384.1:p.Leu623=
XM_011527395.1:c.1896C>T	XP_011525697.1:p.Leu632=
XR_430213.2:n.2122C>T
XM_005259327.3:c.1869C>T	XP_005259384.1:p.Leu623=
XM_011527395.2:c.1611C>T	XP_011525697.2:p.Leu537=
XM_024451739.1:c.1914C>T	XP_024307507.1:p.Leu638=
XR_430213.4:n.2420C>T
NM_032430.2:c.2139C>T MANE Select	NP_115806.1:p.Leu713=