Canonical Allele Identifier: CA508995557

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820092G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308724G>A , CM000681.2:g.55308724G>A	GRCh38
NC_000019.9:g.55820092G>A , CM000681.1:g.55820092G>A	GRCh37
NC_000019.8:g.60511904G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2175G>A MANE Select	ENSP00000310649.1:p.Leu725=
ENST00000309383.5:c.2175G>A	ENSP00000310649.1:p.Leu725=
ENST00000326848.7:c.1260G>A	ENSP00000320853.7:p.Leu420=
ENST00000590333.5:c.2223G>A	ENSP00000468190.1:p.Leu741=
NM_032430.1:c.2175G>A	NP_115806.1:p.Leu725=
XM_005259327.2:c.1905G>A	XP_005259384.1:p.Leu635=
XM_011527395.1:c.1932G>A	XP_011525697.1:p.Leu644=
XR_430213.2:n.2158G>A
XM_005259327.3:c.1905G>A	XP_005259384.1:p.Leu635=
XM_011527395.2:c.1647G>A	XP_011525697.2:p.Leu549=
XM_024451739.1:c.1950G>A	XP_024307507.1:p.Leu650=
XR_430213.4:n.2456G>A
NM_032430.2:c.2175G>A MANE Select	NP_115806.1:p.Leu725=