Canonical Allele Identifier: CA407461961

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820049C>A (hg19) ; chr19:g.55308681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308681C>A , CM000681.2:g.55308681C>A	GRCh38
NC_000019.9:g.55820049C>A , CM000681.1:g.55820049C>A	GRCh37
NC_000019.8:g.60511861C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2132C>A MANE Select	ENSP00000310649.1:p.Ala711Glu
ENST00000309383.5:c.2132C>A	ENSP00000310649.1:p.Ala711Glu
ENST00000326848.7:c.1217C>A	ENSP00000320853.7:p.Ala406Glu
ENST00000590333.5:c.2180C>A	ENSP00000468190.1:p.Ala727Glu
NM_032430.1:c.2132C>A	NP_115806.1:p.Ala711Glu
XM_005259327.2:c.1862C>A	XP_005259384.1:p.Ala621Glu
XM_011527395.1:c.1889C>A	XP_011525697.1:p.Ala630Glu
XR_430213.2:n.2115C>A
XM_005259327.3:c.1862C>A	XP_005259384.1:p.Ala621Glu
XM_011527395.2:c.1604C>A	XP_011525697.2:p.Ala535Glu
XM_024451739.1:c.1907C>A	XP_024307507.1:p.Ala636Glu
XR_430213.4:n.2413C>A
NM_032430.2:c.2132C>A MANE Select	NP_115806.1:p.Ala711Glu