Canonical Allele Identifier: CA2335089003

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573262A= , CM000681.2:g.38573262A=	GRCh38
NC_000019.9:g.39063902A= , CM000681.1:g.39063902A=	GRCh37
NC_000019.8:g.43755742A=	NCBI36
NG_008866.1:g.144563A= , LRG_766:g.144563A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1020A=
ENST00000688602.1:c.2417A=
ENST00000689936.1:c.2389A=
ENST00000359596.8:c.14084A= MANE Select	ENSP00000352608.2:p.Asp4695=
ENST00000355481.8:c.14069A=	ENSP00000347667.3:p.Asp4690=
ENST00000359596.7:c.14084A=	ENSP00000352608.2:p.Asp4695=
ENST00000360985.7:c.14066A=	ENSP00000354254.4:p.Asp4689=
NM_000540.2:c.14084A= , LRG_766t1:c.14084A=	NP_000531.2:p.Asp4695=
NM_001042723.1:c.14069A=	NP_001036188.1:p.Asp4690=
XM_006723317.1:c.14066A=	XP_006723380.1:p.Asp4689=
XM_006723319.1:c.14051A=	XP_006723382.1:p.Asp4684=
XM_011527204.1:c.14081A=	XP_011525506.1:p.Asp4694=
XM_011527205.1:c.13997A=	XP_011525507.1:p.Asp4666=
XM_006723317.2:c.14066A=	XP_006723380.1:p.Asp4689=
XM_006723319.2:c.14051A=	XP_006723382.1:p.Asp4684=
XM_011527205.2:c.13997A=	XP_011525507.1:p.Asp4666=
NM_000540.3:c.14084A= MANE Select	NP_000531.2:p.Asp4695=
NM_001042723.2:c.14069A=	NP_001036188.1:p.Asp4690=