Canonical Allele Identifier: CA407462169
Gene: BRSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308723T>A , CM000681.2:g.55308723T>A GRCh38
NC_000019.9:g.55820091T>A , CM000681.1:g.55820091T>A GRCh37
NC_000019.8:g.60511903T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2174T>A MANE Select ENSP00000310649.1:p.Leu725Gln
ENST00000309383.5:c.2174T>A ENSP00000310649.1:p.Leu725Gln
ENST00000326848.7:c.1259T>A ENSP00000320853.7:p.Leu420Gln
ENST00000590333.5:c.2222T>A ENSP00000468190.1:p.Leu741Gln
NM_032430.1:c.2174T>A NP_115806.1:p.Leu725Gln
XM_005259327.2:c.1904T>A XP_005259384.1:p.Leu635Gln
XM_011527395.1:c.1931T>A XP_011525697.1:p.Leu644Gln
XR_430213.2:n.2157T>A
XM_005259327.3:c.1904T>A XP_005259384.1:p.Leu635Gln
XM_011527395.2:c.1646T>A XP_011525697.2:p.Leu549Gln
XM_024451739.1:c.1949T>A XP_024307507.1:p.Leu650Gln
XR_430213.4:n.2455T>A
NM_032430.2:c.2174T>A MANE Select NP_115806.1:p.Leu725Gln