Canonical Allele Identifier: CA508995438
Gene: BRSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.55820008T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308640T>A , CM000681.2:g.55308640T>A GRCh38
NC_000019.9:g.55820008T>A , CM000681.1:g.55820008T>A GRCh37
NC_000019.8:g.60511820T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2091T>A MANE Select ENSP00000310649.1:p.Gly697=
ENST00000309383.5:c.2091T>A ENSP00000310649.1:p.Gly697=
ENST00000326848.7:c.1176T>A ENSP00000320853.7:p.Gly392=
ENST00000590333.5:c.2139T>A ENSP00000468190.1:p.Gly713=
NM_032430.1:c.2091T>A NP_115806.1:p.Gly697=
XM_005259327.2:c.1821T>A XP_005259384.1:p.Gly607=
XM_011527395.1:c.1848T>A XP_011525697.1:p.Gly616=
XR_430213.2:n.2074T>A
XM_005259327.3:c.1821T>A XP_005259384.1:p.Gly607=
XM_011527395.2:c.1563T>A XP_011525697.2:p.Gly521=
XM_024451739.1:c.1866T>A XP_024307507.1:p.Gly622=
XR_430213.4:n.2372T>A
NM_032430.2:c.2091T>A MANE Select NP_115806.1:p.Gly697=