Canonical Allele Identifier: CA508995473

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088705636
• gnomAD v3: 19-55308664-G-A
• gnomAD v4: 19-55308664-G-A
• MyVariant Identifiers: chr19:g.55820032G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308664G>A , CM000681.2:g.55308664G>A	GRCh38
NC_000019.9:g.55820032G>A , CM000681.1:g.55820032G>A	GRCh37
NC_000019.8:g.60511844G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2115G>A MANE Select	ENSP00000310649.1:p.Val705=
ENST00000309383.5:c.2115G>A	ENSP00000310649.1:p.Val705=
ENST00000326848.7:c.1200G>A	ENSP00000320853.7:p.Val400=
ENST00000590333.5:c.2163G>A	ENSP00000468190.1:p.Val721=
NM_032430.1:c.2115G>A	NP_115806.1:p.Val705=
XM_005259327.2:c.1845G>A	XP_005259384.1:p.Val615=
XM_011527395.1:c.1872G>A	XP_011525697.1:p.Val624=
XR_430213.2:n.2098G>A
XM_005259327.3:c.1845G>A	XP_005259384.1:p.Val615=
XM_011527395.2:c.1587G>A	XP_011525697.2:p.Val529=
XM_024451739.1:c.1890G>A	XP_024307507.1:p.Val630=
XR_430213.4:n.2396G>A
NM_032430.2:c.2115G>A MANE Select	NP_115806.1:p.Val705=