Canonical Allele Identifier: CA407461985

Gene: BRSK1

Linked Data

• dbSNP Id: rs1600195644
• MyVariant Identifiers: chr19:g.55820055T>C (hg19) ; chr19:g.55308687T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308687T>C , CM000681.2:g.55308687T>C	GRCh38
NC_000019.9:g.55820055T>C , CM000681.1:g.55820055T>C	GRCh37
NC_000019.8:g.60511867T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2138T>C MANE Select	ENSP00000310649.1:p.Leu713Pro
ENST00000309383.5:c.2138T>C	ENSP00000310649.1:p.Leu713Pro
ENST00000326848.7:c.1223T>C	ENSP00000320853.7:p.Leu408Pro
ENST00000590333.5:c.2186T>C	ENSP00000468190.1:p.Leu729Pro
NM_032430.1:c.2138T>C	NP_115806.1:p.Leu713Pro
XM_005259327.2:c.1868T>C	XP_005259384.1:p.Leu623Pro
XM_011527395.1:c.1895T>C	XP_011525697.1:p.Leu632Pro
XR_430213.2:n.2121T>C
XM_005259327.3:c.1868T>C	XP_005259384.1:p.Leu623Pro
XM_011527395.2:c.1610T>C	XP_011525697.2:p.Leu537Pro
XM_024451739.1:c.1913T>C	XP_024307507.1:p.Leu638Pro
XR_430213.4:n.2419T>C
NM_032430.2:c.2138T>C MANE Select	NP_115806.1:p.Leu713Pro