Canonical Allele Identifier: CA407461989

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820057C>G (hg19) ; chr19:g.55308689C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308689C>G , CM000681.2:g.55308689C>G	GRCh38
NC_000019.9:g.55820057C>G , CM000681.1:g.55820057C>G	GRCh37
NC_000019.8:g.60511869C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2140C>G MANE Select	ENSP00000310649.1:p.Leu714Val
ENST00000309383.5:c.2140C>G	ENSP00000310649.1:p.Leu714Val
ENST00000326848.7:c.1225C>G	ENSP00000320853.7:p.Leu409Val
ENST00000590333.5:c.2188C>G	ENSP00000468190.1:p.Leu730Val
NM_032430.1:c.2140C>G	NP_115806.1:p.Leu714Val
XM_005259327.2:c.1870C>G	XP_005259384.1:p.Leu624Val
XM_011527395.1:c.1897C>G	XP_011525697.1:p.Leu633Val
XR_430213.2:n.2123C>G
XM_005259327.3:c.1870C>G	XP_005259384.1:p.Leu624Val
XM_011527395.2:c.1612C>G	XP_011525697.2:p.Leu538Val
XM_024451739.1:c.1915C>G	XP_024307507.1:p.Leu639Val
XR_430213.4:n.2421C>G
NM_032430.2:c.2140C>G MANE Select	NP_115806.1:p.Leu714Val