Canonical Allele Identifier: CA2335074295

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543335T= , CM000681.2:g.38543335T=	GRCh38
NC_000019.9:g.39033975T= , CM000681.1:g.39033975T=	GRCh37
NC_000019.8:g.43725815T=	NCBI36
NG_008866.1:g.114636T= , LRG_766:g.114636T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.100-12T=
ENST00000689936.1:c.82-12T=
ENST00000359596.8:c.11690-12T= MANE Select	ENSP00000352608.2:n.11690-12T=
ENST00000355481.8:c.11675-12T=	ENSP00000347667.3:n.11675-12T=
ENST00000359596.7:c.11690-12T=	ENSP00000352608.2:n.11690-12T=
ENST00000360985.7:c.11672-12T=	ENSP00000354254.4:n.11672-12T=
ENST00000593322.1:c.299-12T=
ENST00000594335.5:c.5059-12T=
NM_000540.2:c.11690-12T= , LRG_766t1:c.11690-12T=	NP_000531.2:n.11690-12T=
NM_001042723.1:c.11675-12T=	NP_001036188.1:n.11675-12T=
XM_006723317.1:c.11672-12T=	XP_006723380.1:n.11672-12T=
XM_006723319.1:c.11657-12T=	XP_006723382.1:n.11657-12T=
XM_011527204.1:c.11687-12T=	XP_011525506.1:n.11687-12T=
XM_011527205.1:c.11690-12T=	XP_011525507.1:n.11690-12T=
XM_006723317.2:c.11672-12T=	XP_006723380.1:n.11672-12T=
XM_006723319.2:c.11657-12T=	XP_006723382.1:n.11657-12T=
XM_011527205.2:c.11690-12T=	XP_011525507.1:n.11690-12T=
NM_000540.3:c.11690-12T= MANE Select	NP_000531.2:n.11690-12T=
NM_001042723.2:c.11675-12T=	NP_001036188.1:n.11675-12T=