Canonical Allele Identifier: CA508995549

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820086G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308718G>A , CM000681.2:g.55308718G>A	GRCh38
NC_000019.9:g.55820086G>A , CM000681.1:g.55820086G>A	GRCh37
NC_000019.8:g.60511898G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2169G>A MANE Select	ENSP00000310649.1:p.Gln723=
ENST00000309383.5:c.2169G>A	ENSP00000310649.1:p.Gln723=
ENST00000326848.7:c.1254G>A	ENSP00000320853.7:p.Gln418=
ENST00000590333.5:c.2217G>A	ENSP00000468190.1:p.Gln739=
NM_032430.1:c.2169G>A	NP_115806.1:p.Gln723=
XM_005259327.2:c.1899G>A	XP_005259384.1:p.Gln633=
XM_011527395.1:c.1926G>A	XP_011525697.1:p.Gln642=
XR_430213.2:n.2152G>A
XM_005259327.3:c.1899G>A	XP_005259384.1:p.Gln633=
XM_011527395.2:c.1641G>A	XP_011525697.2:p.Gln547=
XM_024451739.1:c.1944G>A	XP_024307507.1:p.Gln648=
XR_430213.4:n.2450G>A
NM_032430.2:c.2169G>A MANE Select	NP_115806.1:p.Gln723=