Canonical Allele Identifier: CA407462003

Gene: BRSK1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2143A>T MANE Select	ENSP00000310649.1:p.Ser715Cys
ENST00000309383.5:c.2143A>T	ENSP00000310649.1:p.Ser715Cys
ENST00000326848.7:c.1228A>T	ENSP00000320853.7:p.Ser410Cys
ENST00000590333.5:c.2191A>T	ENSP00000468190.1:p.Ser731Cys
NM_032430.1:c.2143A>T	NP_115806.1:p.Ser715Cys
XM_005259327.2:c.1873A>T	XP_005259384.1:p.Ser625Cys
XM_011527395.1:c.1900A>T	XP_011525697.1:p.Ser634Cys
XR_430213.2:n.2126A>T
XM_005259327.3:c.1873A>T	XP_005259384.1:p.Ser625Cys
XM_011527395.2:c.1615A>T	XP_011525697.2:p.Ser539Cys
XM_024451739.1:c.1918A>T	XP_024307507.1:p.Ser640Cys
XR_430213.4:n.2424A>T
NM_032430.2:c.2143A>T MANE Select	NP_115806.1:p.Ser715Cys