Canonical Allele Identifier: CA407461759

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820010C>G (hg19) ; chr19:g.55308642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308642C>G , CM000681.2:g.55308642C>G	GRCh38
NC_000019.9:g.55820010C>G , CM000681.1:g.55820010C>G	GRCh37
NC_000019.8:g.60511822C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2093C>G MANE Select	ENSP00000310649.1:p.Pro698Arg
ENST00000309383.5:c.2093C>G	ENSP00000310649.1:p.Pro698Arg
ENST00000326848.7:c.1178C>G	ENSP00000320853.7:p.Pro393Arg
ENST00000590333.5:c.2141C>G	ENSP00000468190.1:p.Pro714Arg
NM_032430.1:c.2093C>G	NP_115806.1:p.Pro698Arg
XM_005259327.2:c.1823C>G	XP_005259384.1:p.Pro608Arg
XM_011527395.1:c.1850C>G	XP_011525697.1:p.Pro617Arg
XR_430213.2:n.2076C>G
XM_005259327.3:c.1823C>G	XP_005259384.1:p.Pro608Arg
XM_011527395.2:c.1565C>G	XP_011525697.2:p.Pro522Arg
XM_024451739.1:c.1868C>G	XP_024307507.1:p.Pro623Arg
XR_430213.4:n.2374C>G
NM_032430.2:c.2093C>G MANE Select	NP_115806.1:p.Pro698Arg