Canonical Allele Identifier: CA407462078

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820072C>T (hg19) ; chr19:g.55308704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308704C>T , CM000681.2:g.55308704C>T	GRCh38
NC_000019.9:g.55820072C>T , CM000681.1:g.55820072C>T	GRCh37
NC_000019.8:g.60511884C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2155C>T MANE Select	ENSP00000310649.1:p.Gln719Ter
ENST00000309383.5:c.2155C>T	ENSP00000310649.1:p.Gln719Ter
ENST00000326848.7:c.1240C>T	ENSP00000320853.7:p.Gln414Ter
ENST00000590333.5:c.2203C>T	ENSP00000468190.1:p.Gln735Ter
NM_032430.1:c.2155C>T	NP_115806.1:p.Gln719Ter
XM_005259327.2:c.1885C>T	XP_005259384.1:p.Gln629Ter
XM_011527395.1:c.1912C>T	XP_011525697.1:p.Gln638Ter
XR_430213.2:n.2138C>T
XM_005259327.3:c.1885C>T	XP_005259384.1:p.Gln629Ter
XM_011527395.2:c.1627C>T	XP_011525697.2:p.Gln543Ter
XM_024451739.1:c.1930C>T	XP_024307507.1:p.Gln644Ter
XR_430213.4:n.2436C>T
NM_032430.2:c.2155C>T MANE Select	NP_115806.1:p.Gln719Ter