Canonical Allele Identifier: CA407461767

Gene: BRSK1

Linked Data

• MyVariant Identifiers: chr19:g.55820012A>C (hg19) ; chr19:g.55308644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308644A>C , CM000681.2:g.55308644A>C	GRCh38
NC_000019.9:g.55820012A>C , CM000681.1:g.55820012A>C	GRCh37
NC_000019.8:g.60511824A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2095A>C MANE Select	ENSP00000310649.1:p.Ser699Arg
ENST00000309383.5:c.2095A>C	ENSP00000310649.1:p.Ser699Arg
ENST00000326848.7:c.1180A>C	ENSP00000320853.7:p.Ser394Arg
ENST00000590333.5:c.2143A>C	ENSP00000468190.1:p.Ser715Arg
NM_032430.1:c.2095A>C	NP_115806.1:p.Ser699Arg
XM_005259327.2:c.1825A>C	XP_005259384.1:p.Ser609Arg
XM_011527395.1:c.1852A>C	XP_011525697.1:p.Ser618Arg
XR_430213.2:n.2078A>C
XM_005259327.3:c.1825A>C	XP_005259384.1:p.Ser609Arg
XM_011527395.2:c.1567A>C	XP_011525697.2:p.Ser523Arg
XM_024451739.1:c.1870A>C	XP_024307507.1:p.Ser624Arg
XR_430213.4:n.2376A>C
NM_032430.2:c.2095A>C MANE Select	NP_115806.1:p.Ser699Arg