Canonical Allele Identifier: CA407462070

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820071C>A (hg19) ; chr19:g.55308703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308703C>A , CM000681.2:g.55308703C>A	GRCh38
NC_000019.9:g.55820071C>A , CM000681.1:g.55820071C>A	GRCh37
NC_000019.8:g.60511883C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2154C>A MANE Select	ENSP00000310649.1:p.Asp718Glu
ENST00000309383.5:c.2154C>A	ENSP00000310649.1:p.Asp718Glu
ENST00000326848.7:c.1239C>A	ENSP00000320853.7:p.Asp413Glu
ENST00000590333.5:c.2202C>A	ENSP00000468190.1:p.Asp734Glu
NM_032430.1:c.2154C>A	NP_115806.1:p.Asp718Glu
XM_005259327.2:c.1884C>A	XP_005259384.1:p.Asp628Glu
XM_011527395.1:c.1911C>A	XP_011525697.1:p.Asp637Glu
XR_430213.2:n.2137C>A
XM_005259327.3:c.1884C>A	XP_005259384.1:p.Asp628Glu
XM_011527395.2:c.1626C>A	XP_011525697.2:p.Asp542Glu
XM_024451739.1:c.1929C>A	XP_024307507.1:p.Asp643Glu
XR_430213.4:n.2435C>A
NM_032430.2:c.2154C>A MANE Select	NP_115806.1:p.Asp718Glu