Canonical Allele Identifier: CA407461919

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820043T>A (hg19) ; chr19:g.55308675T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308675T>A , CM000681.2:g.55308675T>A	GRCh38
NC_000019.9:g.55820043T>A , CM000681.1:g.55820043T>A	GRCh37
NC_000019.8:g.60511855T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2126T>A MANE Select	ENSP00000310649.1:p.Ile709Asn
ENST00000309383.5:c.2126T>A	ENSP00000310649.1:p.Ile709Asn
ENST00000326848.7:c.1211T>A	ENSP00000320853.7:p.Ile404Asn
ENST00000590333.5:c.2174T>A	ENSP00000468190.1:p.Ile725Asn
NM_032430.1:c.2126T>A	NP_115806.1:p.Ile709Asn
XM_005259327.2:c.1856T>A	XP_005259384.1:p.Ile619Asn
XM_011527395.1:c.1883T>A	XP_011525697.1:p.Ile628Asn
XR_430213.2:n.2109T>A
XM_005259327.3:c.1856T>A	XP_005259384.1:p.Ile619Asn
XM_011527395.2:c.1598T>A	XP_011525697.2:p.Ile533Asn
XM_024451739.1:c.1901T>A	XP_024307507.1:p.Ile634Asn
XR_430213.4:n.2407T>A
NM_032430.2:c.2126T>A MANE Select	NP_115806.1:p.Ile709Asn