Canonical Allele Identifier: CA407462192

Gene: BRSK1

Linked Data

• dbSNP Id: rs1568990215
• gnomAD v2: 19-55820096-G-C
• gnomAD v4: 19-55308728-G-C
• MyVariant Identifiers: chr19:g.55820096G>C (hg19) ; chr19:g.55820096_55820127delinsCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGC (hg19) ; chr19:g.55308728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308728G>C , CM000681.2:g.55308728G>C	GRCh38
NC_000019.9:g.55820096G>C , CM000681.1:g.55820096G>C	GRCh37
NC_000019.8:g.60511908G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179G>C MANE Select	ENSP00000310649.1:p.Asp727His
ENST00000309383.5:c.2179G>C	ENSP00000310649.1:p.Asp727His
ENST00000326848.7:c.1264G>C	ENSP00000320853.7:p.Asp422His
ENST00000590333.5:c.2227G>C	ENSP00000468190.1:p.Asp743His
NM_032430.1:c.2179G>C	NP_115806.1:p.Asp727His
XM_005259327.2:c.1909G>C	XP_005259384.1:p.Asp637His
XM_011527395.1:c.1936G>C	XP_011525697.1:p.Asp646His
XR_430213.2:n.2162G>C
XM_005259327.3:c.1909G>C	XP_005259384.1:p.Asp637His
XM_011527395.2:c.1651G>C	XP_011525697.2:p.Asp551His
XM_024451739.1:c.1954G>C	XP_024307507.1:p.Asp652His
XR_430213.4:n.2460G>C
NM_032430.2:c.2179G>C MANE Select	NP_115806.1:p.Asp727His