Canonical Allele Identifier: CA407461784

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820014C>G (hg19) ; chr19:g.55308646C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2097C>G MANE Select	ENSP00000310649.1:p.Ser699Arg
ENST00000309383.5:c.2097C>G	ENSP00000310649.1:p.Ser699Arg
ENST00000326848.7:c.1182C>G	ENSP00000320853.7:p.Ser394Arg
ENST00000590333.5:c.2145C>G	ENSP00000468190.1:p.Ser715Arg
NM_032430.1:c.2097C>G	NP_115806.1:p.Ser699Arg
XM_005259327.2:c.1827C>G	XP_005259384.1:p.Ser609Arg
XM_011527395.1:c.1854C>G	XP_011525697.1:p.Ser618Arg
XR_430213.2:n.2080C>G
XM_005259327.3:c.1827C>G	XP_005259384.1:p.Ser609Arg
XM_011527395.2:c.1569C>G	XP_011525697.2:p.Ser523Arg
XM_024451739.1:c.1872C>G	XP_024307507.1:p.Ser624Arg
XR_430213.4:n.2378C>G
NM_032430.2:c.2097C>G MANE Select	NP_115806.1:p.Ser699Arg