Canonical Allele Identifier: CA16575466
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55288961T>C , CM000681.2:g.55288961T>C GRCh38
NC_000019.9:g.55800329T>C , CM000681.1:g.55800329T>C GRCh37
NC_000019.8:g.60492141T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.318-519T>C MANE Select ENSP00000310649.1:n.318-519T>C
ENST00000309383.5:c.318-519T>C ENSP00000310649.1:n.318-519T>C
ENST00000585418.1:c.318-519T>C ENSP00000467357.1:n.318-519T>C
ENST00000590333.5:c.366-519T>C ENSP00000468190.1:n.366-519T>C
ENST00000592539.6:c.253-519T>C
NM_032430.1:c.318-519T>C NP_115806.1:n.318-519T>C
XM_005259327.2:c.48-519T>C XP_005259384.1:n.48-519T>C
XM_011527395.1:c.75-519T>C XP_011525697.1:n.75-519T>C
XR_430213.2:n.362-519T>C
XM_005259327.3:c.48-519T>C XP_005259384.1:n.48-519T>C
XM_011527395.2:c.-211-519T>C XP_011525697.2:n.-211-519T>C
XM_024451739.1:c.93-519T>C XP_024307507.1:n.93-519T>C
XR_430213.4:n.660-519T>C
NM_032430.2:c.318-519T>C MANE Select NP_115806.1:n.318-519T>C