Canonical Allele Identifier: CA407462030

Gene: BRSK1

Linked Data

• dbSNP Id: rs1254458750
• gnomAD v2: 19-55820063-A-G
• MyVariant Identifiers: chr19:g.55820063A>G (hg19) ; chr19:g.55308695A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308695A>G , CM000681.2:g.55308695A>G	GRCh38
NC_000019.9:g.55820063A>G , CM000681.1:g.55820063A>G	GRCh37
NC_000019.8:g.60511875A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2146A>G MANE Select	ENSP00000310649.1:p.Thr716Ala
ENST00000309383.5:c.2146A>G	ENSP00000310649.1:p.Thr716Ala
ENST00000326848.7:c.1231A>G	ENSP00000320853.7:p.Thr411Ala
ENST00000590333.5:c.2194A>G	ENSP00000468190.1:p.Thr732Ala
NM_032430.1:c.2146A>G	NP_115806.1:p.Thr716Ala
XM_005259327.2:c.1876A>G	XP_005259384.1:p.Thr626Ala
XM_011527395.1:c.1903A>G	XP_011525697.1:p.Thr635Ala
XR_430213.2:n.2129A>G
XM_005259327.3:c.1876A>G	XP_005259384.1:p.Thr626Ala
XM_011527395.2:c.1618A>G	XP_011525697.2:p.Thr540Ala
XM_024451739.1:c.1921A>G	XP_024307507.1:p.Thr641Ala
XR_430213.4:n.2427A>G
NM_032430.2:c.2146A>G MANE Select	NP_115806.1:p.Thr716Ala