Canonical Allele Identifier: CA2335095573

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586143A= , CM000681.2:g.38586143A=	GRCh38
NC_000019.9:g.39076783A= , CM000681.1:g.39076783A=	GRCh37
NC_000019.8:g.43768623A=	NCBI36
NG_008866.1:g.157444A= , LRG_766:g.157444A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1857A=
ENST00000688602.1:c.3254A=
ENST00000689936.1:c.3226A=
ENST00000692547.1:n.314A=
ENST00000359596.8:c.14921A= MANE Select	ENSP00000352608.2:p.His4974=
ENST00000355481.8:c.14906A=	ENSP00000347667.3:p.His4969=
ENST00000359596.7:c.14921A=	ENSP00000352608.2:p.His4974=
ENST00000360985.7:c.14903A=	ENSP00000354254.4:p.His4968=
NM_000540.2:c.14921A= , LRG_766t1:c.14921A=	NP_000531.2:p.His4974=
NM_001042723.1:c.14906A=	NP_001036188.1:p.His4969=
XM_006723317.1:c.14903A=	XP_006723380.1:p.His4968=
XM_006723319.1:c.14888A=	XP_006723382.1:p.His4963=
XM_011527204.1:c.14918A=	XP_011525506.1:p.His4973=
XM_011527205.1:c.14834A=	XP_011525507.1:p.His4945=
XM_006723317.2:c.14903A=	XP_006723380.1:p.His4968=
XM_006723319.2:c.14888A=	XP_006723382.1:p.His4963=
XM_011527205.2:c.14834A=	XP_011525507.1:p.His4945=
NM_000540.3:c.14921A= MANE Select	NP_000531.2:p.His4974=
NM_001042723.2:c.14906A=	NP_001036188.1:p.His4969=