Canonical Allele Identifier: CA508995544

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820083G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308715G>C , CM000681.2:g.55308715G>C	GRCh38
NC_000019.9:g.55820083G>C , CM000681.1:g.55820083G>C	GRCh37
NC_000019.8:g.60511895G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2166G>C MANE Select	ENSP00000310649.1:p.Val722=
ENST00000309383.5:c.2166G>C	ENSP00000310649.1:p.Val722=
ENST00000326848.7:c.1251G>C	ENSP00000320853.7:p.Val417=
ENST00000590333.5:c.2214G>C	ENSP00000468190.1:p.Val738=
NM_032430.1:c.2166G>C	NP_115806.1:p.Val722=
XM_005259327.2:c.1896G>C	XP_005259384.1:p.Val632=
XM_011527395.1:c.1923G>C	XP_011525697.1:p.Val641=
XR_430213.2:n.2149G>C
XM_005259327.3:c.1896G>C	XP_005259384.1:p.Val632=
XM_011527395.2:c.1638G>C	XP_011525697.2:p.Val546=
XM_024451739.1:c.1941G>C	XP_024307507.1:p.Val647=
XR_430213.4:n.2447G>C
NM_032430.2:c.2166G>C MANE Select	NP_115806.1:p.Val722=