Canonical Allele Identifier: CA407461842

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820027C>T (hg19) ; chr19:g.55308659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308659C>T , CM000681.2:g.55308659C>T	GRCh38
NC_000019.9:g.55820027C>T , CM000681.1:g.55820027C>T	GRCh37
NC_000019.8:g.60511839C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2110C>T MANE Select	ENSP00000310649.1:p.Arg704Ter
ENST00000309383.5:c.2110C>T	ENSP00000310649.1:p.Arg704Ter
ENST00000326848.7:c.1195C>T	ENSP00000320853.7:p.Arg399Ter
ENST00000590333.5:c.2158C>T	ENSP00000468190.1:p.Arg720Ter
NM_032430.1:c.2110C>T	NP_115806.1:p.Arg704Ter
XM_005259327.2:c.1840C>T	XP_005259384.1:p.Arg614Ter
XM_011527395.1:c.1867C>T	XP_011525697.1:p.Arg623Ter
XR_430213.2:n.2093C>T
XM_005259327.3:c.1840C>T	XP_005259384.1:p.Arg614Ter
XM_011527395.2:c.1582C>T	XP_011525697.2:p.Arg528Ter
XM_024451739.1:c.1885C>T	XP_024307507.1:p.Arg629Ter
XR_430213.4:n.2391C>T
NM_032430.2:c.2110C>T MANE Select	NP_115806.1:p.Arg704Ter