Canonical Allele Identifier: CA2335089071

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573401T= , CM000681.2:g.38573401T=	GRCh38
NC_000019.9:g.39064041T= , CM000681.1:g.39064041T=	GRCh37
NC_000019.8:g.43755881T=	NCBI36
NG_008866.1:g.144702T= , LRG_766:g.144702T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1065+94T=
ENST00000688602.1:c.2462+94T=
ENST00000689936.1:c.2434+94T=
ENST00000359596.8:c.14129+94T= MANE Select	ENSP00000352608.2:n.14129+94T=
ENST00000355481.8:c.14114+94T=	ENSP00000347667.3:n.14114+94T=
ENST00000359596.7:c.14129+94T=	ENSP00000352608.2:n.14129+94T=
ENST00000360985.7:c.14111+94T=	ENSP00000354254.4:n.14111+94T=
NM_000540.2:c.14129+94T= , LRG_766t1:c.14129+94T=	NP_000531.2:n.14129+94T=
NM_001042723.1:c.14114+94T=	NP_001036188.1:n.14114+94T=
XM_006723317.1:c.14111+94T=	XP_006723380.1:n.14111+94T=
XM_006723319.1:c.14096+94T=	XP_006723382.1:n.14096+94T=
XM_011527204.1:c.14126+94T=	XP_011525506.1:n.14126+94T=
XM_011527205.1:c.14042+94T=	XP_011525507.1:n.14042+94T=
XM_006723317.2:c.14111+94T=	XP_006723380.1:n.14111+94T=
XM_006723319.2:c.14096+94T=	XP_006723382.1:n.14096+94T=
XM_011527205.2:c.14042+94T=	XP_011525507.1:n.14042+94T=
NM_000540.3:c.14129+94T= MANE Select	NP_000531.2:n.14129+94T=
NM_001042723.2:c.14114+94T=	NP_001036188.1:n.14114+94T=