Canonical Allele Identifier: CA407462168

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820091T>G (hg19) ; chr19:g.55308723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308723T>G , CM000681.2:g.55308723T>G	GRCh38
NC_000019.9:g.55820091T>G , CM000681.1:g.55820091T>G	GRCh37
NC_000019.8:g.60511903T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2174T>G MANE Select	ENSP00000310649.1:p.Leu725Arg
ENST00000309383.5:c.2174T>G	ENSP00000310649.1:p.Leu725Arg
ENST00000326848.7:c.1259T>G	ENSP00000320853.7:p.Leu420Arg
ENST00000590333.5:c.2222T>G	ENSP00000468190.1:p.Leu741Arg
NM_032430.1:c.2174T>G	NP_115806.1:p.Leu725Arg
XM_005259327.2:c.1904T>G	XP_005259384.1:p.Leu635Arg
XM_011527395.1:c.1931T>G	XP_011525697.1:p.Leu644Arg
XR_430213.2:n.2157T>G
XM_005259327.3:c.1904T>G	XP_005259384.1:p.Leu635Arg
XM_011527395.2:c.1646T>G	XP_011525697.2:p.Leu549Arg
XM_024451739.1:c.1949T>G	XP_024307507.1:p.Leu650Arg
XR_430213.4:n.2455T>G
NM_032430.2:c.2174T>G MANE Select	NP_115806.1:p.Leu725Arg