Canonical Allele Identifier: CA2335074547

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543848C= , CM000681.2:g.38543848C=	GRCh38
NC_000019.9:g.39034488C= , CM000681.1:g.39034488C=	GRCh37
NC_000019.8:g.43726328C=	NCBI36
NG_008866.1:g.115149C= , LRG_766:g.115149C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.395C=
ENST00000689936.1:c.377C=
ENST00000359596.8:c.11985C= MANE Select	ENSP00000352608.2:p.Phe3995=
ENST00000355481.8:c.11970C=	ENSP00000347667.3:p.Phe3990=
ENST00000359596.7:c.11985C=	ENSP00000352608.2:p.Phe3995=
ENST00000360985.7:c.11967C=	ENSP00000354254.4:p.Phe3989=
ENST00000593322.1:c.594C=
ENST00000594335.5:c.5354C=
NM_000540.2:c.11985C= , LRG_766t1:c.11985C=	NP_000531.2:p.Phe3995=
NM_001042723.1:c.11970C=	NP_001036188.1:p.Phe3990=
XM_006723317.1:c.11967C=	XP_006723380.1:p.Phe3989=
XM_006723319.1:c.11952C=	XP_006723382.1:p.Phe3984=
XM_011527204.1:c.11982C=	XP_011525506.1:p.Phe3994=
XM_011527205.1:c.11985C=	XP_011525507.1:p.Phe3995=
XM_006723317.2:c.11967C=	XP_006723380.1:p.Phe3989=
XM_006723319.2:c.11952C=	XP_006723382.1:p.Phe3984=
XM_011527205.2:c.11985C=	XP_011525507.1:p.Phe3995=
NM_000540.3:c.11985C= MANE Select	NP_000531.2:p.Phe3995=
NM_001042723.2:c.11970C=	NP_001036188.1:p.Phe3990=