Canonical Allele Identifier: CA407461952

Gene: BRSK1

Linked Data

• dbSNP Id: rs2122999996
• MyVariant Identifiers: chr19:g.55820048G>A (hg19) ; chr19:g.55308680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308680G>A , CM000681.2:g.55308680G>A	GRCh38
NC_000019.9:g.55820048G>A , CM000681.1:g.55820048G>A	GRCh37
NC_000019.8:g.60511860G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2131G>A MANE Select	ENSP00000310649.1:p.Ala711Thr
ENST00000309383.5:c.2131G>A	ENSP00000310649.1:p.Ala711Thr
ENST00000326848.7:c.1216G>A	ENSP00000320853.7:p.Ala406Thr
ENST00000590333.5:c.2179G>A	ENSP00000468190.1:p.Ala727Thr
NM_032430.1:c.2131G>A	NP_115806.1:p.Ala711Thr
XM_005259327.2:c.1861G>A	XP_005259384.1:p.Ala621Thr
XM_011527395.1:c.1888G>A	XP_011525697.1:p.Ala630Thr
XR_430213.2:n.2114G>A
XM_005259327.3:c.1861G>A	XP_005259384.1:p.Ala621Thr
XM_011527395.2:c.1603G>A	XP_011525697.2:p.Ala535Thr
XM_024451739.1:c.1906G>A	XP_024307507.1:p.Ala636Thr
XR_430213.4:n.2412G>A
NM_032430.2:c.2131G>A MANE Select	NP_115806.1:p.Ala711Thr