Canonical Allele Identifier: CA407461983

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820055T>A (hg19) ; chr19:g.55308687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308687T>A , CM000681.2:g.55308687T>A	GRCh38
NC_000019.9:g.55820055T>A , CM000681.1:g.55820055T>A	GRCh37
NC_000019.8:g.60511867T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2138T>A MANE Select	ENSP00000310649.1:p.Leu713His
ENST00000309383.5:c.2138T>A	ENSP00000310649.1:p.Leu713His
ENST00000326848.7:c.1223T>A	ENSP00000320853.7:p.Leu408His
ENST00000590333.5:c.2186T>A	ENSP00000468190.1:p.Leu729His
NM_032430.1:c.2138T>A	NP_115806.1:p.Leu713His
XM_005259327.2:c.1868T>A	XP_005259384.1:p.Leu623His
XM_011527395.1:c.1895T>A	XP_011525697.1:p.Leu632His
XR_430213.2:n.2121T>A
XM_005259327.3:c.1868T>A	XP_005259384.1:p.Leu623His
XM_011527395.2:c.1610T>A	XP_011525697.2:p.Leu537His
XM_024451739.1:c.1913T>A	XP_024307507.1:p.Leu638His
XR_430213.4:n.2419T>A
NM_032430.2:c.2138T>A MANE Select	NP_115806.1:p.Leu713His