Canonical Allele Identifier: CA2335092279

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580041C= , CM000681.2:g.38580041C=	GRCh38
NC_000019.9:g.39070681C= , CM000681.1:g.39070681C=	GRCh37
NC_000019.8:g.43762521C=	NCBI36
NG_008866.1:g.151342C= , LRG_766:g.151342C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1360C=
ENST00000688602.1:c.2757C=
ENST00000689936.1:c.2729C=
ENST00000359596.8:c.14424C= MANE Select	ENSP00000352608.2:p.Phe4808=
ENST00000355481.8:c.14409C=	ENSP00000347667.3:p.Phe4803=
ENST00000359596.7:c.14424C=	ENSP00000352608.2:p.Phe4808=
ENST00000360985.7:c.14406C=	ENSP00000354254.4:p.Phe4802=
NM_000540.2:c.14424C= , LRG_766t1:c.14424C=	NP_000531.2:p.Phe4808=
NM_001042723.1:c.14409C=	NP_001036188.1:p.Phe4803=
XM_006723317.1:c.14406C=	XP_006723380.1:p.Phe4802=
XM_006723319.1:c.14391C=	XP_006723382.1:p.Phe4797=
XM_011527204.1:c.14421C=	XP_011525506.1:p.Phe4807=
XM_011527205.1:c.14337C=	XP_011525507.1:p.Phe4779=
XM_006723317.2:c.14406C=	XP_006723380.1:p.Phe4802=
XM_006723319.2:c.14391C=	XP_006723382.1:p.Phe4797=
XM_011527205.2:c.14337C=	XP_011525507.1:p.Phe4779=
NM_000540.3:c.14424C= MANE Select	NP_000531.2:p.Phe4808=
NM_001042723.2:c.14409C=	NP_001036188.1:p.Phe4803=