Canonical Allele Identifier: CA2335088452

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572221T= , CM000681.2:g.38572221T=	GRCh38
NC_000019.9:g.39062861T= , CM000681.1:g.39062861T=	GRCh37
NC_000019.8:g.43754701T=	NCBI36
NG_008866.1:g.143522T= , LRG_766:g.143522T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.885T=
ENST00000688602.1:c.2282T=
ENST00000689936.1:c.2254T=
ENST00000359596.8:c.13949T= MANE Select	ENSP00000352608.2:p.Leu4650=
ENST00000355481.8:c.13934T=	ENSP00000347667.3:p.Leu4645=
ENST00000359596.7:c.13949T=	ENSP00000352608.2:p.Leu4650=
ENST00000360985.7:c.13931T=	ENSP00000354254.4:p.Leu4644=
ENST00000593677.1:c.409T=
NM_000540.2:c.13949T= , LRG_766t1:c.13949T=	NP_000531.2:p.Leu4650=
NM_001042723.1:c.13934T=	NP_001036188.1:p.Leu4645=
XM_006723317.1:c.13931T=	XP_006723380.1:p.Leu4644=
XM_006723319.1:c.13916T=	XP_006723382.1:p.Leu4639=
XM_011527204.1:c.13946T=	XP_011525506.1:p.Leu4649=
XM_011527205.1:c.13862T=	XP_011525507.1:p.Leu4621=
XM_006723317.2:c.13931T=	XP_006723380.1:p.Leu4644=
XM_006723319.2:c.13916T=	XP_006723382.1:p.Leu4639=
XM_011527205.2:c.13862T=	XP_011525507.1:p.Leu4621=
NM_000540.3:c.13949T= MANE Select	NP_000531.2:p.Leu4650=
NM_001042723.2:c.13934T=	NP_001036188.1:p.Leu4645=