Canonical Allele Identifier: CA407461875

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820034T>G (hg19) ; chr19:g.55308666T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308666T>G , CM000681.2:g.55308666T>G	GRCh38
NC_000019.9:g.55820034T>G , CM000681.1:g.55820034T>G	GRCh37
NC_000019.8:g.60511846T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2117T>G MANE Select	ENSP00000310649.1:p.Val706Gly
ENST00000309383.5:c.2117T>G	ENSP00000310649.1:p.Val706Gly
ENST00000326848.7:c.1202T>G	ENSP00000320853.7:p.Val401Gly
ENST00000590333.5:c.2165T>G	ENSP00000468190.1:p.Val722Gly
NM_032430.1:c.2117T>G	NP_115806.1:p.Val706Gly
XM_005259327.2:c.1847T>G	XP_005259384.1:p.Val616Gly
XM_011527395.1:c.1874T>G	XP_011525697.1:p.Val625Gly
XR_430213.2:n.2100T>G
XM_005259327.3:c.1847T>G	XP_005259384.1:p.Val616Gly
XM_011527395.2:c.1589T>G	XP_011525697.2:p.Val530Gly
XM_024451739.1:c.1892T>G	XP_024307507.1:p.Val631Gly
XR_430213.4:n.2398T>G
NM_032430.2:c.2117T>G MANE Select	NP_115806.1:p.Val706Gly