Canonical Allele Identifier: CA2335074309

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543365G= , CM000681.2:g.38543365G=	GRCh38
NC_000019.9:g.39034005G= , CM000681.1:g.39034005G=	GRCh37
NC_000019.8:g.43725845G=	NCBI36
NG_008866.1:g.114666G= , LRG_766:g.114666G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.118G=
ENST00000689936.1:c.100G=
ENST00000359596.8:c.11708G= MANE Select	ENSP00000352608.2:p.Arg3903=
ENST00000355481.8:c.11693G=	ENSP00000347667.3:p.Arg3898=
ENST00000359596.7:c.11708G=	ENSP00000352608.2:p.Arg3903=
ENST00000360985.7:c.11690G=	ENSP00000354254.4:p.Arg3897=
ENST00000593322.1:c.317G=
ENST00000594335.5:c.5077G=
NM_000540.2:c.11708G= , LRG_766t1:c.11708G=	NP_000531.2:p.Arg3903=
NM_001042723.1:c.11693G=	NP_001036188.1:p.Arg3898=
XM_006723317.1:c.11690G=	XP_006723380.1:p.Arg3897=
XM_006723319.1:c.11675G=	XP_006723382.1:p.Arg3892=
XM_011527204.1:c.11705G=	XP_011525506.1:p.Arg3902=
XM_011527205.1:c.11708G=	XP_011525507.1:p.Arg3903=
XM_006723317.2:c.11690G=	XP_006723380.1:p.Arg3897=
XM_006723319.2:c.11675G=	XP_006723382.1:p.Arg3892=
XM_011527205.2:c.11708G=	XP_011525507.1:p.Arg3903=
NM_000540.3:c.11708G= MANE Select	NP_000531.2:p.Arg3903=
NM_001042723.2:c.11693G=	NP_001036188.1:p.Arg3898=