Canonical Allele Identifier: CA2335074330

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543405T= , CM000681.2:g.38543405T=	GRCh38
NC_000019.9:g.39034045T= , CM000681.1:g.39034045T=	GRCh37
NC_000019.8:g.43725885T=	NCBI36
NG_008866.1:g.114706T= , LRG_766:g.114706T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.158T=
ENST00000689936.1:c.140T=
ENST00000359596.8:c.11748T= MANE Select	ENSP00000352608.2:p.Ile3916=
ENST00000355481.8:c.11733T=	ENSP00000347667.3:p.Ile3911=
ENST00000359596.7:c.11748T=	ENSP00000352608.2:p.Ile3916=
ENST00000360985.7:c.11730T=	ENSP00000354254.4:p.Ile3910=
ENST00000593322.1:c.357T=
ENST00000594335.5:c.5117T=
NM_000540.2:c.11748T= , LRG_766t1:c.11748T=	NP_000531.2:p.Ile3916=
NM_001042723.1:c.11733T=	NP_001036188.1:p.Ile3911=
XM_006723317.1:c.11730T=	XP_006723380.1:p.Ile3910=
XM_006723319.1:c.11715T=	XP_006723382.1:p.Ile3905=
XM_011527204.1:c.11745T=	XP_011525506.1:p.Ile3915=
XM_011527205.1:c.11748T=	XP_011525507.1:p.Ile3916=
XM_006723317.2:c.11730T=	XP_006723380.1:p.Ile3910=
XM_006723319.2:c.11715T=	XP_006723382.1:p.Ile3905=
XM_011527205.2:c.11748T=	XP_011525507.1:p.Ile3916=
NM_000540.3:c.11748T= MANE Select	NP_000531.2:p.Ile3916=
NM_001042723.2:c.11733T=	NP_001036188.1:p.Ile3911=