Canonical Allele Identifier: CA2335094999

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585078A= , CM000681.2:g.38585078A=	GRCh38
NC_000019.9:g.39075718A= , CM000681.1:g.39075718A=	GRCh37
NC_000019.8:g.43767558A=	NCBI36
NG_008866.1:g.156379A= , LRG_766:g.156379A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1718A=
ENST00000688602.1:c.3115A=
ENST00000689936.1:c.3087A=
ENST00000692547.1:n.175A=
ENST00000359596.8:c.14782A= MANE Select	ENSP00000352608.2:p.Ile4928=
ENST00000355481.8:c.14767A=	ENSP00000347667.3:p.Ile4923=
ENST00000359596.7:c.14782A=	ENSP00000352608.2:p.Ile4928=
ENST00000360985.7:c.14764A=	ENSP00000354254.4:p.Ile4922=
NM_000540.2:c.14782A= , LRG_766t1:c.14782A=	NP_000531.2:p.Ile4928=
NM_001042723.1:c.14767A=	NP_001036188.1:p.Ile4923=
XM_006723317.1:c.14764A=	XP_006723380.1:p.Ile4922=
XM_006723319.1:c.14749A=	XP_006723382.1:p.Ile4917=
XM_011527204.1:c.14779A=	XP_011525506.1:p.Ile4927=
XM_011527205.1:c.14695A=	XP_011525507.1:p.Ile4899=
XM_006723317.2:c.14764A=	XP_006723380.1:p.Ile4922=
XM_006723319.2:c.14749A=	XP_006723382.1:p.Ile4917=
XM_011527205.2:c.14695A=	XP_011525507.1:p.Ile4899=
NM_000540.3:c.14782A= MANE Select	NP_000531.2:p.Ile4928=
NM_001042723.2:c.14767A=	NP_001036188.1:p.Ile4923=