Canonical Allele Identifier: CA407461955

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820048G>C (hg19) ; chr19:g.55308680G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308680G>C , CM000681.2:g.55308680G>C	GRCh38
NC_000019.9:g.55820048G>C , CM000681.1:g.55820048G>C	GRCh37
NC_000019.8:g.60511860G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2131G>C MANE Select	ENSP00000310649.1:p.Ala711Pro
ENST00000309383.5:c.2131G>C	ENSP00000310649.1:p.Ala711Pro
ENST00000326848.7:c.1216G>C	ENSP00000320853.7:p.Ala406Pro
ENST00000590333.5:c.2179G>C	ENSP00000468190.1:p.Ala727Pro
NM_032430.1:c.2131G>C	NP_115806.1:p.Ala711Pro
XM_005259327.2:c.1861G>C	XP_005259384.1:p.Ala621Pro
XM_011527395.1:c.1888G>C	XP_011525697.1:p.Ala630Pro
XR_430213.2:n.2114G>C
XM_005259327.3:c.1861G>C	XP_005259384.1:p.Ala621Pro
XM_011527395.2:c.1603G>C	XP_011525697.2:p.Ala535Pro
XM_024451739.1:c.1906G>C	XP_024307507.1:p.Ala636Pro
XR_430213.4:n.2412G>C
NM_032430.2:c.2131G>C MANE Select	NP_115806.1:p.Ala711Pro