Canonical Allele Identifier: CA407461975

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308685-G-C
• MyVariant Identifiers: chr19:g.55820053G>C (hg19) ; chr19:g.55308685G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308685G>C , CM000681.2:g.55308685G>C	GRCh38
NC_000019.9:g.55820053G>C , CM000681.1:g.55820053G>C	GRCh37
NC_000019.8:g.60511865G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2136G>C MANE Select	ENSP00000310649.1:p.Gln712His
ENST00000309383.5:c.2136G>C	ENSP00000310649.1:p.Gln712His
ENST00000326848.7:c.1221G>C	ENSP00000320853.7:p.Gln407His
ENST00000590333.5:c.2184G>C	ENSP00000468190.1:p.Gln728His
NM_032430.1:c.2136G>C	NP_115806.1:p.Gln712His
XM_005259327.2:c.1866G>C	XP_005259384.1:p.Gln622His
XM_011527395.1:c.1893G>C	XP_011525697.1:p.Gln631His
XR_430213.2:n.2119G>C
XM_005259327.3:c.1866G>C	XP_005259384.1:p.Gln622His
XM_011527395.2:c.1608G>C	XP_011525697.2:p.Gln536His
XM_024451739.1:c.1911G>C	XP_024307507.1:p.Gln637His
XR_430213.4:n.2417G>C
NM_032430.2:c.2136G>C MANE Select	NP_115806.1:p.Gln712His