Canonical Allele Identifier: CA407462036

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308696-C-T
• MyVariant Identifiers: chr19:g.55820064C>T (hg19) ; chr19:g.55308696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308696C>T , CM000681.2:g.55308696C>T	GRCh38
NC_000019.9:g.55820064C>T , CM000681.1:g.55820064C>T	GRCh37
NC_000019.8:g.60511876C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2147C>T MANE Select	ENSP00000310649.1:p.Thr716Ile
ENST00000309383.5:c.2147C>T	ENSP00000310649.1:p.Thr716Ile
ENST00000326848.7:c.1232C>T	ENSP00000320853.7:p.Thr411Ile
ENST00000590333.5:c.2195C>T	ENSP00000468190.1:p.Thr732Ile
NM_032430.1:c.2147C>T	NP_115806.1:p.Thr716Ile
XM_005259327.2:c.1877C>T	XP_005259384.1:p.Thr626Ile
XM_011527395.1:c.1904C>T	XP_011525697.1:p.Thr635Ile
XR_430213.2:n.2130C>T
XM_005259327.3:c.1877C>T	XP_005259384.1:p.Thr626Ile
XM_011527395.2:c.1619C>T	XP_011525697.2:p.Thr540Ile
XM_024451739.1:c.1922C>T	XP_024307507.1:p.Thr641Ile
XR_430213.4:n.2428C>T
NM_032430.2:c.2147C>T MANE Select	NP_115806.1:p.Thr716Ile