Canonical Allele Identifier: CA2335088446

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572206G= , CM000681.2:g.38572206G=	GRCh38
NC_000019.9:g.39062846G= , CM000681.1:g.39062846G=	GRCh37
NC_000019.8:g.43754686G=	NCBI36
NG_008866.1:g.143507G= , LRG_766:g.143507G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.870G=
ENST00000688602.1:c.2267G=
ENST00000689936.1:c.2239G=
ENST00000359596.8:c.13934G= MANE Select	ENSP00000352608.2:p.Arg4645=
ENST00000355481.8:c.13919G=	ENSP00000347667.3:p.Arg4640=
ENST00000359596.7:c.13934G=	ENSP00000352608.2:p.Arg4645=
ENST00000360985.7:c.13916G=	ENSP00000354254.4:p.Arg4639=
ENST00000593677.1:c.394G=
NM_000540.2:c.13934G= , LRG_766t1:c.13934G=	NP_000531.2:p.Arg4645=
NM_001042723.1:c.13919G=	NP_001036188.1:p.Arg4640=
XM_006723317.1:c.13916G=	XP_006723380.1:p.Arg4639=
XM_006723319.1:c.13901G=	XP_006723382.1:p.Arg4634=
XM_011527204.1:c.13931G=	XP_011525506.1:p.Arg4644=
XM_011527205.1:c.13847G=	XP_011525507.1:p.Arg4616=
XM_006723317.2:c.13916G=	XP_006723380.1:p.Arg4639=
XM_006723319.2:c.13901G=	XP_006723382.1:p.Arg4634=
XM_011527205.2:c.13847G=	XP_011525507.1:p.Arg4616=
NM_000540.3:c.13934G= MANE Select	NP_000531.2:p.Arg4645=
NM_001042723.2:c.13919G=	NP_001036188.1:p.Arg4640=