Canonical Allele Identifier: CA2587277930

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308500-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308500T>C , CM000681.2:g.55308500T>C	GRCh38
NC_000019.9:g.55819868T>C , CM000681.1:g.55819868T>C	GRCh37
NC_000019.8:g.60511680T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-139T>C MANE Select	ENSP00000310649.1:n.2090-139T>C
ENST00000309383.5:c.2090-139T>C	ENSP00000310649.1:n.2090-139T>C
ENST00000326848.7:c.1175-139T>C	ENSP00000320853.7:n.1175-139T>C
ENST00000590333.5:c.2138-139T>C	ENSP00000468190.1:n.2138-139T>C
NM_032430.1:c.2090-139T>C	NP_115806.1:n.2090-139T>C
XM_005259327.2:c.1820-139T>C	XP_005259384.1:n.1820-139T>C
XM_011527395.1:c.1847-139T>C	XP_011525697.1:n.1847-139T>C
XR_430213.2:n.2073-139T>C
XM_005259327.3:c.1820-139T>C	XP_005259384.1:n.1820-139T>C
XM_011527395.2:c.1562-139T>C	XP_011525697.2:n.1562-139T>C
XM_024451739.1:c.1865-139T>C	XP_024307507.1:n.1865-139T>C
XR_430213.4:n.2371-139T>C
NM_032430.2:c.2090-139T>C MANE Select	NP_115806.1:n.2090-139T>C