Canonical Allele Identifier: CA407461791

Gene: BRSK1

Linked Data

• dbSNP Id: rs1271189057
• gnomAD v2: 19-55820015-C-T
• gnomAD v3: 19-55308647-C-T
• gnomAD v4: 19-55308647-C-T
• COSMIC: COSM440355
• MyVariant Identifiers: chr19:g.55820015C>T (hg19) ; chr19:g.55308647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308647C>T , CM000681.2:g.55308647C>T	GRCh38
NC_000019.9:g.55820015C>T , CM000681.1:g.55820015C>T	GRCh37
NC_000019.8:g.60511827C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2098C>T MANE Select	ENSP00000310649.1:p.Arg700Cys
ENST00000309383.5:c.2098C>T	ENSP00000310649.1:p.Arg700Cys
ENST00000326848.7:c.1183C>T	ENSP00000320853.7:p.Arg395Cys
ENST00000590333.5:c.2146C>T	ENSP00000468190.1:p.Arg716Cys
NM_032430.1:c.2098C>T	NP_115806.1:p.Arg700Cys
XM_005259327.2:c.1828C>T	XP_005259384.1:p.Arg610Cys
XM_011527395.1:c.1855C>T	XP_011525697.1:p.Arg619Cys
XR_430213.2:n.2081C>T
XM_005259327.3:c.1828C>T	XP_005259384.1:p.Arg610Cys
XM_011527395.2:c.1570C>T	XP_011525697.2:p.Arg524Cys
XM_024451739.1:c.1873C>T	XP_024307507.1:p.Arg625Cys
XR_430213.4:n.2379C>T
NM_032430.2:c.2098C>T MANE Select	NP_115806.1:p.Arg700Cys