Canonical Allele Identifier: CA508995448

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820014C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308646C>T , CM000681.2:g.55308646C>T	GRCh38
NC_000019.9:g.55820014C>T , CM000681.1:g.55820014C>T	GRCh37
NC_000019.8:g.60511826C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2097C>T MANE Select	ENSP00000310649.1:p.Ser699=
ENST00000309383.5:c.2097C>T	ENSP00000310649.1:p.Ser699=
ENST00000326848.7:c.1182C>T	ENSP00000320853.7:p.Ser394=
ENST00000590333.5:c.2145C>T	ENSP00000468190.1:p.Ser715=
NM_032430.1:c.2097C>T	NP_115806.1:p.Ser699=
XM_005259327.2:c.1827C>T	XP_005259384.1:p.Ser609=
XM_011527395.1:c.1854C>T	XP_011525697.1:p.Ser618=
XR_430213.2:n.2080C>T
XM_005259327.3:c.1827C>T	XP_005259384.1:p.Ser609=
XM_011527395.2:c.1569C>T	XP_011525697.2:p.Ser523=
XM_024451739.1:c.1872C>T	XP_024307507.1:p.Ser624=
XR_430213.4:n.2378C>T
NM_032430.2:c.2097C>T MANE Select	NP_115806.1:p.Ser699=