Canonical Allele Identifier: CA407461970

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820051C>T (hg19) ; chr19:g.55308683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308683C>T , CM000681.2:g.55308683C>T	GRCh38
NC_000019.9:g.55820051C>T , CM000681.1:g.55820051C>T	GRCh37
NC_000019.8:g.60511863C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2134C>T MANE Select	ENSP00000310649.1:p.Gln712Ter
ENST00000309383.5:c.2134C>T	ENSP00000310649.1:p.Gln712Ter
ENST00000326848.7:c.1219C>T	ENSP00000320853.7:p.Gln407Ter
ENST00000590333.5:c.2182C>T	ENSP00000468190.1:p.Gln728Ter
NM_032430.1:c.2134C>T	NP_115806.1:p.Gln712Ter
XM_005259327.2:c.1864C>T	XP_005259384.1:p.Gln622Ter
XM_011527395.1:c.1891C>T	XP_011525697.1:p.Gln631Ter
XR_430213.2:n.2117C>T
XM_005259327.3:c.1864C>T	XP_005259384.1:p.Gln622Ter
XM_011527395.2:c.1606C>T	XP_011525697.2:p.Gln536Ter
XM_024451739.1:c.1909C>T	XP_024307507.1:p.Gln637Ter
XR_430213.4:n.2415C>T
NM_032430.2:c.2134C>T MANE Select	NP_115806.1:p.Gln712Ter