Canonical Allele Identifier: CA310135243

Gene: BRSK1

Linked Data

• dbSNP Id: rs200841171
• gnomAD v3: 19-55308719-G-T
• gnomAD v4: 19-55308719-G-T
• MyVariant Identifiers: chr19:g.55820087G>T (hg19) ; chr19:g.55308719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308719G>T , CM000681.2:g.55308719G>T	GRCh38
NC_000019.9:g.55820087G>T , CM000681.1:g.55820087G>T	GRCh37
NC_000019.8:g.60511899G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2170G>T MANE Select	ENSP00000310649.1:p.Ala724Ser
ENST00000309383.5:c.2170G>T	ENSP00000310649.1:p.Ala724Ser
ENST00000326848.7:c.1255G>T	ENSP00000320853.7:p.Ala419Ser
ENST00000590333.5:c.2218G>T	ENSP00000468190.1:p.Ala740Ser
NM_032430.1:c.2170G>T	NP_115806.1:p.Ala724Ser
XM_005259327.2:c.1900G>T	XP_005259384.1:p.Ala634Ser
XM_011527395.1:c.1927G>T	XP_011525697.1:p.Ala643Ser
XR_430213.2:n.2153G>T
XM_005259327.3:c.1900G>T	XP_005259384.1:p.Ala634Ser
XM_011527395.2:c.1642G>T	XP_011525697.2:p.Ala548Ser
XM_024451739.1:c.1945G>T	XP_024307507.1:p.Ala649Ser
XR_430213.4:n.2451G>T
NM_032430.2:c.2170G>T MANE Select	NP_115806.1:p.Ala724Ser