Canonical Allele Identifier: CA508995500

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820050A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308682A>C , CM000681.2:g.55308682A>C	GRCh38
NC_000019.9:g.55820050A>C , CM000681.1:g.55820050A>C	GRCh37
NC_000019.8:g.60511862A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2133A>C MANE Select	ENSP00000310649.1:p.Ala711=
ENST00000309383.5:c.2133A>C	ENSP00000310649.1:p.Ala711=
ENST00000326848.7:c.1218A>C	ENSP00000320853.7:p.Ala406=
ENST00000590333.5:c.2181A>C	ENSP00000468190.1:p.Ala727=
NM_032430.1:c.2133A>C	NP_115806.1:p.Ala711=
XM_005259327.2:c.1863A>C	XP_005259384.1:p.Ala621=
XM_011527395.1:c.1890A>C	XP_011525697.1:p.Ala630=
XR_430213.2:n.2116A>C
XM_005259327.3:c.1863A>C	XP_005259384.1:p.Ala621=
XM_011527395.2:c.1605A>C	XP_011525697.2:p.Ala535=
XM_024451739.1:c.1908A>C	XP_024307507.1:p.Ala636=
XR_430213.4:n.2414A>C
NM_032430.2:c.2133A>C MANE Select	NP_115806.1:p.Ala711=