Canonical Allele Identifier: CA2335074307

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543363A= , CM000681.2:g.38543363A=	GRCh38
NC_000019.9:g.39034003A= , CM000681.1:g.39034003A=	GRCh37
NC_000019.8:g.43725843A=	NCBI36
NG_008866.1:g.114664A= , LRG_766:g.114664A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.116A=
ENST00000689936.1:c.98A=
ENST00000359596.8:c.11706A= MANE Select	ENSP00000352608.2:p.Leu3902=
ENST00000355481.8:c.11691A=	ENSP00000347667.3:p.Leu3897=
ENST00000359596.7:c.11706A=	ENSP00000352608.2:p.Leu3902=
ENST00000360985.7:c.11688A=	ENSP00000354254.4:p.Leu3896=
ENST00000593322.1:c.315A=
ENST00000594335.5:c.5075A=
NM_000540.2:c.11706A= , LRG_766t1:c.11706A=	NP_000531.2:p.Leu3902=
NM_001042723.1:c.11691A=	NP_001036188.1:p.Leu3897=
XM_006723317.1:c.11688A=	XP_006723380.1:p.Leu3896=
XM_006723319.1:c.11673A=	XP_006723382.1:p.Leu3891=
XM_011527204.1:c.11703A=	XP_011525506.1:p.Leu3901=
XM_011527205.1:c.11706A=	XP_011525507.1:p.Leu3902=
XM_006723317.2:c.11688A=	XP_006723380.1:p.Leu3896=
XM_006723319.2:c.11673A=	XP_006723382.1:p.Leu3891=
XM_011527205.2:c.11706A=	XP_011525507.1:p.Leu3902=
NM_000540.3:c.11706A= MANE Select	NP_000531.2:p.Leu3902=
NM_001042723.2:c.11691A=	NP_001036188.1:p.Leu3897=