Canonical Allele Identifier: CA2343356042
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308866G= , CM000681.2:g.55308866G= GRCh38
NC_000019.9:g.55820234G= , CM000681.1:g.55820234G= GRCh37
NC_000019.8:g.60512046G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2179+138G= MANE Select ENSP00000310649.1:n.2179+138G=
ENST00000309383.5:c.2179+138G= ENSP00000310649.1:n.2179+138G=
ENST00000326848.7:c.1264+138G= ENSP00000320853.7:n.1264+138G=
ENST00000590333.5:c.2227+138G= ENSP00000468190.1:n.2227+138G=
NM_032430.1:c.2179+138G= NP_115806.1:n.2179+138G=
XM_005259327.2:c.1909+138G= XP_005259384.1:n.1909+138G=
XM_011527395.1:c.1936+138G= XP_011525697.1:n.1936+138G=
XR_430213.2:n.2162+138G=
XM_005259327.3:c.1909+138G= XP_005259384.1:n.1909+138G=
XM_011527395.2:c.1651+138G= XP_011525697.2:n.1651+138G=
XM_024451739.1:c.1954+138G= XP_024307507.1:n.1954+138G=
XR_430213.4:n.2460+138G=
NM_032430.2:c.2179+138G= MANE Select NP_115806.1:n.2179+138G=