Canonical Allele Identifier: CA508995474

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820032G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308664G>C , CM000681.2:g.55308664G>C	GRCh38
NC_000019.9:g.55820032G>C , CM000681.1:g.55820032G>C	GRCh37
NC_000019.8:g.60511844G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2115G>C MANE Select	ENSP00000310649.1:p.Val705=
ENST00000309383.5:c.2115G>C	ENSP00000310649.1:p.Val705=
ENST00000326848.7:c.1200G>C	ENSP00000320853.7:p.Val400=
ENST00000590333.5:c.2163G>C	ENSP00000468190.1:p.Val721=
NM_032430.1:c.2115G>C	NP_115806.1:p.Val705=
XM_005259327.2:c.1845G>C	XP_005259384.1:p.Val615=
XM_011527395.1:c.1872G>C	XP_011525697.1:p.Val624=
XR_430213.2:n.2098G>C
XM_005259327.3:c.1845G>C	XP_005259384.1:p.Val615=
XM_011527395.2:c.1587G>C	XP_011525697.2:p.Val529=
XM_024451739.1:c.1890G>C	XP_024307507.1:p.Val630=
XR_430213.4:n.2396G>C
NM_032430.2:c.2115G>C MANE Select	NP_115806.1:p.Val705=