Canonical Allele Identifier: CA2335092266

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580026A= , CM000681.2:g.38580026A=	GRCh38
NC_000019.9:g.39070666A= , CM000681.1:g.39070666A=	GRCh37
NC_000019.8:g.43762506A=	NCBI36
NG_008866.1:g.151327A= , LRG_766:g.151327A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1345A=
ENST00000688602.1:c.2742A=
ENST00000689936.1:c.2714A=
ENST00000359596.8:c.14409A= MANE Select	ENSP00000352608.2:p.Gly4803=
ENST00000355481.8:c.14394A=	ENSP00000347667.3:p.Gly4798=
ENST00000359596.7:c.14409A=	ENSP00000352608.2:p.Gly4803=
ENST00000360985.7:c.14391A=	ENSP00000354254.4:p.Gly4797=
NM_000540.2:c.14409A= , LRG_766t1:c.14409A=	NP_000531.2:p.Gly4803=
NM_001042723.1:c.14394A=	NP_001036188.1:p.Gly4798=
XM_006723317.1:c.14391A=	XP_006723380.1:p.Gly4797=
XM_006723319.1:c.14376A=	XP_006723382.1:p.Gly4792=
XM_011527204.1:c.14406A=	XP_011525506.1:p.Gly4802=
XM_011527205.1:c.14322A=	XP_011525507.1:p.Gly4774=
XM_006723317.2:c.14391A=	XP_006723380.1:p.Gly4797=
XM_006723319.2:c.14376A=	XP_006723382.1:p.Gly4792=
XM_011527205.2:c.14322A=	XP_011525507.1:p.Gly4774=
NM_000540.3:c.14409A= MANE Select	NP_000531.2:p.Gly4803=
NM_001042723.2:c.14394A=	NP_001036188.1:p.Gly4798=