Canonical Allele Identifier: CA2335084820

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565338T= , CM000681.2:g.38565338T=	GRCh38
NC_000019.9:g.39055978T= , CM000681.1:g.39055978T=	GRCh37
NC_000019.8:g.43747818T=	NCBI36
NG_008866.1:g.136639T= , LRG_766:g.136639T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1414T=
ENST00000689936.1:c.1396T=
ENST00000359596.8:c.13004T= MANE Select	ENSP00000352608.2:p.Leu4335=
ENST00000355481.8:c.12989T=	ENSP00000347667.3:p.Leu4330=
ENST00000359596.7:c.13004T=	ENSP00000352608.2:p.Leu4335=
ENST00000360985.7:c.12986T=	ENSP00000354254.4:p.Leu4329=
NM_000540.2:c.13004T= , LRG_766t1:c.13004T=	NP_000531.2:p.Leu4335=
NM_001042723.1:c.12989T=	NP_001036188.1:p.Leu4330=
XM_006723317.1:c.12986T=	XP_006723380.1:p.Leu4329=
XM_006723319.1:c.12971T=	XP_006723382.1:p.Leu4324=
XM_011527204.1:c.13001T=	XP_011525506.1:p.Leu4334=
XM_011527205.1:c.13004T=	XP_011525507.1:p.Leu4335=
XM_006723317.2:c.12986T=	XP_006723380.1:p.Leu4329=
XM_006723319.2:c.12971T=	XP_006723382.1:p.Leu4324=
XM_011527205.2:c.13004T=	XP_011525507.1:p.Leu4335=
NM_000540.3:c.13004T= MANE Select	NP_000531.2:p.Leu4335=
NM_001042723.2:c.12989T=	NP_001036188.1:p.Leu4330=