Canonical Allele Identifier: CA407462083

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820074G>T (hg19) ; chr19:g.55308706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308706G>T , CM000681.2:g.55308706G>T	GRCh38
NC_000019.9:g.55820074G>T , CM000681.1:g.55820074G>T	GRCh37
NC_000019.8:g.60511886G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2157G>T MANE Select	ENSP00000310649.1:p.Gln719His
ENST00000309383.5:c.2157G>T	ENSP00000310649.1:p.Gln719His
ENST00000326848.7:c.1242G>T	ENSP00000320853.7:p.Gln414His
ENST00000590333.5:c.2205G>T	ENSP00000468190.1:p.Gln735His
NM_032430.1:c.2157G>T	NP_115806.1:p.Gln719His
XM_005259327.2:c.1887G>T	XP_005259384.1:p.Gln629His
XM_011527395.1:c.1914G>T	XP_011525697.1:p.Gln638His
XR_430213.2:n.2140G>T
XM_005259327.3:c.1887G>T	XP_005259384.1:p.Gln629His
XM_011527395.2:c.1629G>T	XP_011525697.2:p.Gln543His
XM_024451739.1:c.1932G>T	XP_024307507.1:p.Gln644His
XR_430213.4:n.2438G>T
NM_032430.2:c.2157G>T MANE Select	NP_115806.1:p.Gln719His