Canonical Allele Identifier: CA2343356044

Gene: BRSK1 TMEM150B

Linked Data

• dbSNP Id: rs2088718518
• gnomAD v4: 19-55308869-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308869C>T , CM000681.2:g.55308869C>T	GRCh38
NC_000019.9:g.55820237C>T , CM000681.1:g.55820237C>T	GRCh37
NC_000019.8:g.60512049C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+141C>T (BRSK1) MANE Select	ENSP00000310649.1:n.2179+141C>T
ENST00000309383.5:c.2179+141C>T (BRSK1)	ENSP00000310649.1:n.2179+141C>T
ENST00000326848.7:c.1264+141C>T (BRSK1)	ENSP00000320853.7:n.1264+141C>T
ENST00000590333.5:c.2227+141C>T (BRSK1)	ENSP00000468190.1:n.2227+141C>T
NM_032430.1:c.2179+141C>T (BRSK1)	NP_115806.1:n.2179+141C>T
XM_005259327.2:c.1909+141C>T (BRSK1)	XP_005259384.1:n.1909+141C>T
XM_011527395.1:c.1936+141C>T (BRSK1)	XP_011525697.1:n.1936+141C>T
XR_430213.2:n.2162+141C>T (BRSK1)
XM_005259327.3:c.1909+141C>T (BRSK1)	XP_005259384.1:n.1909+141C>T
XM_011526850.3:c.*1356G>A (TMEM150B)	XP_011525152.1:n.*1356G>A
XM_011527395.2:c.1651+141C>T (BRSK1)	XP_011525697.2:n.1651+141C>T
XM_024451739.1:c.1954+141C>T (BRSK1)	XP_024307507.1:n.1954+141C>T
XR_430213.4:n.2460+141C>T (BRSK1)
NM_032430.2:c.2179+141C>T (BRSK1) MANE Select	NP_115806.1:n.2179+141C>T