Canonical Allele Identifier: CA407461927

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820044C>G (hg19) ; chr19:g.55308676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308676C>G , CM000681.2:g.55308676C>G	GRCh38
NC_000019.9:g.55820044C>G , CM000681.1:g.55820044C>G	GRCh37
NC_000019.8:g.60511856C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2127C>G MANE Select	ENSP00000310649.1:p.Ile709Met
ENST00000309383.5:c.2127C>G	ENSP00000310649.1:p.Ile709Met
ENST00000326848.7:c.1212C>G	ENSP00000320853.7:p.Ile404Met
ENST00000590333.5:c.2175C>G	ENSP00000468190.1:p.Ile725Met
NM_032430.1:c.2127C>G	NP_115806.1:p.Ile709Met
XM_005259327.2:c.1857C>G	XP_005259384.1:p.Ile619Met
XM_011527395.1:c.1884C>G	XP_011525697.1:p.Ile628Met
XR_430213.2:n.2110C>G
XM_005259327.3:c.1857C>G	XP_005259384.1:p.Ile619Met
XM_011527395.2:c.1599C>G	XP_011525697.2:p.Ile533Met
XM_024451739.1:c.1902C>G	XP_024307507.1:p.Ile634Met
XR_430213.4:n.2408C>G
NM_032430.2:c.2127C>G MANE Select	NP_115806.1:p.Ile709Met