Canonical Allele Identifier: CA508995526

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308700-T-C
• MyVariant Identifiers: chr19:g.55820068T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308700T>C , CM000681.2:g.55308700T>C	GRCh38
NC_000019.9:g.55820068T>C , CM000681.1:g.55820068T>C	GRCh37
NC_000019.8:g.60511880T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2151T>C MANE Select	ENSP00000310649.1:p.His717=
ENST00000309383.5:c.2151T>C	ENSP00000310649.1:p.His717=
ENST00000326848.7:c.1236T>C	ENSP00000320853.7:p.His412=
ENST00000590333.5:c.2199T>C	ENSP00000468190.1:p.His733=
NM_032430.1:c.2151T>C	NP_115806.1:p.His717=
XM_005259327.2:c.1881T>C	XP_005259384.1:p.His627=
XM_011527395.1:c.1908T>C	XP_011525697.1:p.His636=
XR_430213.2:n.2134T>C
XM_005259327.3:c.1881T>C	XP_005259384.1:p.His627=
XM_011527395.2:c.1623T>C	XP_011525697.2:p.His541=
XM_024451739.1:c.1926T>C	XP_024307507.1:p.His642=
XR_430213.4:n.2432T>C
NM_032430.2:c.2151T>C MANE Select	NP_115806.1:p.His717=