Canonical Allele Identifier: CA508995563

Gene: BRSK1

Linked Data

• COSMIC: COSM5447343
• MyVariant Identifiers: chr19:g.55820095A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308727A>G , CM000681.2:g.55308727A>G	GRCh38
NC_000019.9:g.55820095A>G , CM000681.1:g.55820095A>G	GRCh37
NC_000019.8:g.60511907A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2178A>G MANE Select	ENSP00000310649.1:p.Ala726=
ENST00000309383.5:c.2178A>G	ENSP00000310649.1:p.Ala726=
ENST00000326848.7:c.1263A>G	ENSP00000320853.7:p.Ala421=
ENST00000590333.5:c.2226A>G	ENSP00000468190.1:p.Ala742=
NM_032430.1:c.2178A>G	NP_115806.1:p.Ala726=
XM_005259327.2:c.1908A>G	XP_005259384.1:p.Ala636=
XM_011527395.1:c.1935A>G	XP_011525697.1:p.Ala645=
XR_430213.2:n.2161A>G
XM_005259327.3:c.1908A>G	XP_005259384.1:p.Ala636=
XM_011527395.2:c.1650A>G	XP_011525697.2:p.Ala550=
XM_024451739.1:c.1953A>G	XP_024307507.1:p.Ala651=
XR_430213.4:n.2459A>G
NM_032430.2:c.2178A>G MANE Select	NP_115806.1:p.Ala726=