Canonical Allele Identifier: CA407461907

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820040C>T (hg19) ; chr19:g.55308672C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308672C>T , CM000681.2:g.55308672C>T	GRCh38
NC_000019.9:g.55820040C>T , CM000681.1:g.55820040C>T	GRCh37
NC_000019.8:g.60511852C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2123C>T MANE Select	ENSP00000310649.1:p.Thr708Ile
ENST00000309383.5:c.2123C>T	ENSP00000310649.1:p.Thr708Ile
ENST00000326848.7:c.1208C>T	ENSP00000320853.7:p.Thr403Ile
ENST00000590333.5:c.2171C>T	ENSP00000468190.1:p.Thr724Ile
NM_032430.1:c.2123C>T	NP_115806.1:p.Thr708Ile
XM_005259327.2:c.1853C>T	XP_005259384.1:p.Thr618Ile
XM_011527395.1:c.1880C>T	XP_011525697.1:p.Thr627Ile
XR_430213.2:n.2106C>T
XM_005259327.3:c.1853C>T	XP_005259384.1:p.Thr618Ile
XM_011527395.2:c.1595C>T	XP_011525697.2:p.Thr532Ile
XM_024451739.1:c.1898C>T	XP_024307507.1:p.Thr633Ile
XR_430213.4:n.2404C>T
NM_032430.2:c.2123C>T MANE Select	NP_115806.1:p.Thr708Ile