Canonical Allele Identifier: CA407462150

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820086G>C (hg19) ; chr19:g.55308718G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2169G>C MANE Select	ENSP00000310649.1:p.Gln723His
ENST00000309383.5:c.2169G>C	ENSP00000310649.1:p.Gln723His
ENST00000326848.7:c.1254G>C	ENSP00000320853.7:p.Gln418His
ENST00000590333.5:c.2217G>C	ENSP00000468190.1:p.Gln739His
NM_032430.1:c.2169G>C	NP_115806.1:p.Gln723His
XM_005259327.2:c.1899G>C	XP_005259384.1:p.Gln633His
XM_011527395.1:c.1926G>C	XP_011525697.1:p.Gln642His
XR_430213.2:n.2152G>C
XM_005259327.3:c.1899G>C	XP_005259384.1:p.Gln633His
XM_011527395.2:c.1641G>C	XP_011525697.2:p.Gln547His
XM_024451739.1:c.1944G>C	XP_024307507.1:p.Gln648His
XR_430213.4:n.2450G>C
NM_032430.2:c.2169G>C MANE Select	NP_115806.1:p.Gln723His