Canonical Allele Identifier: CA2343355930
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308775C= , CM000681.2:g.55308775C= GRCh38
NC_000019.9:g.55820143C= , CM000681.1:g.55820143C= GRCh37
NC_000019.8:g.60511955C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2179+47C= MANE Select ENSP00000310649.1:n.2179+47C=
ENST00000309383.5:c.2179+47C= ENSP00000310649.1:n.2179+47C=
ENST00000326848.7:c.1264+47C= ENSP00000320853.7:n.1264+47C=
ENST00000590333.5:c.2227+47C= ENSP00000468190.1:n.2227+47C=
NM_032430.1:c.2179+47C= NP_115806.1:n.2179+47C=
XM_005259327.2:c.1909+47C= XP_005259384.1:n.1909+47C=
XM_011527395.1:c.1936+47C= XP_011525697.1:n.1936+47C=
XR_430213.2:n.2162+47C=
XM_005259327.3:c.1909+47C= XP_005259384.1:n.1909+47C=
XM_011527395.2:c.1651+47C= XP_011525697.2:n.1651+47C=
XM_024451739.1:c.1954+47C= XP_024307507.1:n.1954+47C=
XR_430213.4:n.2460+47C=
NM_032430.2:c.2179+47C= MANE Select NP_115806.1:n.2179+47C=