Canonical Allele Identifier: CA9672684

Gene: BRSK1

Linked Data

• dbSNP Id: rs759820361
• ExAC: 19:55820018 C / T
• gnomAD v2: 19-55820018-C-T
• gnomAD v4: 19-55308650-C-T
• MyVariant Identifiers: chr19:g.55820018C>T (hg19) ; chr19:g.55308650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308650C>T , CM000681.2:g.55308650C>T	GRCh38
NC_000019.9:g.55820018C>T , CM000681.1:g.55820018C>T	GRCh37
NC_000019.8:g.60511830C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2101C>T MANE Select	ENSP00000310649.1:p.Arg701Trp
ENST00000309383.5:c.2101C>T	ENSP00000310649.1:p.Arg701Trp
ENST00000326848.7:c.1186C>T	ENSP00000320853.7:p.Arg396Trp
ENST00000590333.5:c.2149C>T	ENSP00000468190.1:p.Arg717Trp
NM_032430.1:c.2101C>T	NP_115806.1:p.Arg701Trp
XM_005259327.2:c.1831C>T	XP_005259384.1:p.Arg611Trp
XM_011527395.1:c.1858C>T	XP_011525697.1:p.Arg620Trp
XR_430213.2:n.2084C>T
XM_005259327.3:c.1831C>T	XP_005259384.1:p.Arg611Trp
XM_011527395.2:c.1573C>T	XP_011525697.2:p.Arg525Trp
XM_024451739.1:c.1876C>T	XP_024307507.1:p.Arg626Trp
XR_430213.4:n.2382C>T
NM_032430.2:c.2101C>T MANE Select	NP_115806.1:p.Arg701Trp