Canonical Allele Identifier: CA407462016

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308695-A-C
• MyVariant Identifiers: chr19:g.55820063A>C (hg19) ; chr19:g.55308695A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2146A>C MANE Select	ENSP00000310649.1:p.Thr716Pro
ENST00000309383.5:c.2146A>C	ENSP00000310649.1:p.Thr716Pro
ENST00000326848.7:c.1231A>C	ENSP00000320853.7:p.Thr411Pro
ENST00000590333.5:c.2194A>C	ENSP00000468190.1:p.Thr732Pro
NM_032430.1:c.2146A>C	NP_115806.1:p.Thr716Pro
XM_005259327.2:c.1876A>C	XP_005259384.1:p.Thr626Pro
XM_011527395.1:c.1903A>C	XP_011525697.1:p.Thr635Pro
XR_430213.2:n.2129A>C
XM_005259327.3:c.1876A>C	XP_005259384.1:p.Thr626Pro
XM_011527395.2:c.1618A>C	XP_011525697.2:p.Thr540Pro
XM_024451739.1:c.1921A>C	XP_024307507.1:p.Thr641Pro
XR_430213.4:n.2427A>C
NM_032430.2:c.2146A>C MANE Select	NP_115806.1:p.Thr716Pro