Canonical Allele Identifier: CA508995494

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308676-C-T
• MyVariant Identifiers: chr19:g.55820044C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308676C>T , CM000681.2:g.55308676C>T	GRCh38
NC_000019.9:g.55820044C>T , CM000681.1:g.55820044C>T	GRCh37
NC_000019.8:g.60511856C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2127C>T MANE Select	ENSP00000310649.1:p.Ile709=
ENST00000309383.5:c.2127C>T	ENSP00000310649.1:p.Ile709=
ENST00000326848.7:c.1212C>T	ENSP00000320853.7:p.Ile404=
ENST00000590333.5:c.2175C>T	ENSP00000468190.1:p.Ile725=
NM_032430.1:c.2127C>T	NP_115806.1:p.Ile709=
XM_005259327.2:c.1857C>T	XP_005259384.1:p.Ile619=
XM_011527395.1:c.1884C>T	XP_011525697.1:p.Ile628=
XR_430213.2:n.2110C>T
XM_005259327.3:c.1857C>T	XP_005259384.1:p.Ile619=
XM_011527395.2:c.1599C>T	XP_011525697.2:p.Ile533=
XM_024451739.1:c.1902C>T	XP_024307507.1:p.Ile634=
XR_430213.4:n.2408C>T
NM_032430.2:c.2127C>T MANE Select	NP_115806.1:p.Ile709=