Canonical Allele Identifier: CA407462002

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820060A>G (hg19) ; chr19:g.55308692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308692A>G , CM000681.2:g.55308692A>G	GRCh38
NC_000019.9:g.55820060A>G , CM000681.1:g.55820060A>G	GRCh37
NC_000019.8:g.60511872A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2143A>G MANE Select	ENSP00000310649.1:p.Ser715Gly
ENST00000309383.5:c.2143A>G	ENSP00000310649.1:p.Ser715Gly
ENST00000326848.7:c.1228A>G	ENSP00000320853.7:p.Ser410Gly
ENST00000590333.5:c.2191A>G	ENSP00000468190.1:p.Ser731Gly
NM_032430.1:c.2143A>G	NP_115806.1:p.Ser715Gly
XM_005259327.2:c.1873A>G	XP_005259384.1:p.Ser625Gly
XM_011527395.1:c.1900A>G	XP_011525697.1:p.Ser634Gly
XR_430213.2:n.2126A>G
XM_005259327.3:c.1873A>G	XP_005259384.1:p.Ser625Gly
XM_011527395.2:c.1615A>G	XP_011525697.2:p.Ser539Gly
XM_024451739.1:c.1918A>G	XP_024307507.1:p.Ser640Gly
XR_430213.4:n.2424A>G
NM_032430.2:c.2143A>G MANE Select	NP_115806.1:p.Ser715Gly