Canonical Allele Identifier: CA2502763619

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308393T>C , CM000681.2:g.55308393T>C	GRCh38
NC_000019.9:g.55819761T>C , CM000681.1:g.55819761T>C	GRCh37
NC_000019.8:g.60511573T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309383.6:c.2090-246T>C MANE Select	ENSP00000310649.1:n.2090-246T>C
ENST00000309383.5:c.2090-246T>C	ENSP00000310649.1:n.2090-246T>C
ENST00000326848.7:c.1175-246T>C	ENSP00000320853.7:n.1175-246T>C
ENST00000590333.5:c.2138-246T>C	ENSP00000468190.1:n.2138-246T>C
NM_032430.1:c.2090-246T>C	NP_115806.1:n.2090-246T>C
XM_005259327.2:c.1820-246T>C	XP_005259384.1:n.1820-246T>C
XM_011527395.1:c.1847-246T>C	XP_011525697.1:n.1847-246T>C
XR_430213.2:n.2073-246T>C
XM_005259327.3:c.1820-246T>C	XP_005259384.1:n.1820-246T>C
XM_011527395.2:c.1562-246T>C	XP_011525697.2:n.1562-246T>C
XM_024451739.1:c.1865-246T>C	XP_024307507.1:n.1865-246T>C
XR_430213.4:n.2371-246T>C
NM_032430.2:c.2090-246T>C MANE Select	NP_115806.1:n.2090-246T>C