Canonical Allele Identifier: CA407462045

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088706263
• COSMIC: COSM3539433
• MyVariant Identifiers: chr19:g.55820066C>T (hg19) ; chr19:g.55308698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308698C>T , CM000681.2:g.55308698C>T	GRCh38
NC_000019.9:g.55820066C>T , CM000681.1:g.55820066C>T	GRCh37
NC_000019.8:g.60511878C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2149C>T MANE Select	ENSP00000310649.1:p.His717Tyr
ENST00000309383.5:c.2149C>T	ENSP00000310649.1:p.His717Tyr
ENST00000326848.7:c.1234C>T	ENSP00000320853.7:p.His412Tyr
ENST00000590333.5:c.2197C>T	ENSP00000468190.1:p.His733Tyr
NM_032430.1:c.2149C>T	NP_115806.1:p.His717Tyr
XM_005259327.2:c.1879C>T	XP_005259384.1:p.His627Tyr
XM_011527395.1:c.1906C>T	XP_011525697.1:p.His636Tyr
XR_430213.2:n.2132C>T
XM_005259327.3:c.1879C>T	XP_005259384.1:p.His627Tyr
XM_011527395.2:c.1621C>T	XP_011525697.2:p.His541Tyr
XM_024451739.1:c.1924C>T	XP_024307507.1:p.His642Tyr
XR_430213.4:n.2430C>T
NM_032430.2:c.2149C>T MANE Select	NP_115806.1:p.His717Tyr