Canonical Allele Identifier: CA407461817

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820023C>A (hg19) ; chr19:g.55308655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308655C>A , CM000681.2:g.55308655C>A	GRCh38
NC_000019.9:g.55820023C>A , CM000681.1:g.55820023C>A	GRCh37
NC_000019.8:g.60511835C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2106C>A MANE Select	ENSP00000310649.1:p.Phe702Leu
ENST00000309383.5:c.2106C>A	ENSP00000310649.1:p.Phe702Leu
ENST00000326848.7:c.1191C>A	ENSP00000320853.7:p.Phe397Leu
ENST00000590333.5:c.2154C>A	ENSP00000468190.1:p.Phe718Leu
NM_032430.1:c.2106C>A	NP_115806.1:p.Phe702Leu
XM_005259327.2:c.1836C>A	XP_005259384.1:p.Phe612Leu
XM_011527395.1:c.1863C>A	XP_011525697.1:p.Phe621Leu
XR_430213.2:n.2089C>A
XM_005259327.3:c.1836C>A	XP_005259384.1:p.Phe612Leu
XM_011527395.2:c.1578C>A	XP_011525697.2:p.Phe526Leu
XM_024451739.1:c.1881C>A	XP_024307507.1:p.Phe627Leu
XR_430213.4:n.2387C>A
NM_032430.2:c.2106C>A MANE Select	NP_115806.1:p.Phe702Leu