Canonical Allele Identifier: CA2335092520

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580508A= , CM000681.2:g.38580508A=	GRCh38
NC_000019.9:g.39071148A= , CM000681.1:g.39071148A=	GRCh37
NC_000019.8:g.43762988A=	NCBI36
NG_008866.1:g.151809A= , LRG_766:g.151809A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1582+4A=
ENST00000688602.1:c.2979+4A=
ENST00000689936.1:c.2951+4A=
ENST00000359596.8:c.14646+4A= MANE Select	ENSP00000352608.2:n.14646+4A=
ENST00000355481.8:c.14631+4A=	ENSP00000347667.3:n.14631+4A=
ENST00000359596.7:c.14646+4A=	ENSP00000352608.2:n.14646+4A=
ENST00000360985.7:c.14628+4A=	ENSP00000354254.4:n.14628+4A=
NM_000540.2:c.14646+4A= , LRG_766t1:c.14646+4A=	NP_000531.2:n.14646+4A=
NM_001042723.1:c.14631+4A=	NP_001036188.1:n.14631+4A=
XM_006723317.1:c.14628+4A=	XP_006723380.1:n.14628+4A=
XM_006723319.1:c.14613+4A=	XP_006723382.1:n.14613+4A=
XM_011527204.1:c.14643+4A=	XP_011525506.1:n.14643+4A=
XM_011527205.1:c.14559+4A=	XP_011525507.1:n.14559+4A=
XM_006723317.2:c.14628+4A=	XP_006723380.1:n.14628+4A=
XM_006723319.2:c.14613+4A=	XP_006723382.1:n.14613+4A=
XM_011527205.2:c.14559+4A=	XP_011525507.1:n.14559+4A=
NM_000540.3:c.14646+4A= MANE Select	NP_000531.2:n.14646+4A=
NM_001042723.2:c.14631+4A=	NP_001036188.1:n.14631+4A=