Canonical Allele Identifier: CA2335088462

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572247A= , CM000681.2:g.38572247A=	GRCh38
NC_000019.9:g.39062887A= , CM000681.1:g.39062887A=	GRCh37
NC_000019.8:g.43754727A=	NCBI36
NG_008866.1:g.143548A= , LRG_766:g.143548A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.911A=
ENST00000688602.1:c.2308A=
ENST00000689936.1:c.2280A=
ENST00000359596.8:c.13975A= MANE Select	ENSP00000352608.2:p.Ile4659=
ENST00000355481.8:c.13960A=	ENSP00000347667.3:p.Ile4654=
ENST00000359596.7:c.13975A=	ENSP00000352608.2:p.Ile4659=
ENST00000360985.7:c.13957A=	ENSP00000354254.4:p.Ile4653=
NM_000540.2:c.13975A= , LRG_766t1:c.13975A=	NP_000531.2:p.Ile4659=
NM_001042723.1:c.13960A=	NP_001036188.1:p.Ile4654=
XM_006723317.1:c.13957A=	XP_006723380.1:p.Ile4653=
XM_006723319.1:c.13942A=	XP_006723382.1:p.Ile4648=
XM_011527204.1:c.13972A=	XP_011525506.1:p.Ile4658=
XM_011527205.1:c.13888A=	XP_011525507.1:p.Ile4630=
XM_006723317.2:c.13957A=	XP_006723380.1:p.Ile4653=
XM_006723319.2:c.13942A=	XP_006723382.1:p.Ile4648=
XM_011527205.2:c.13888A=	XP_011525507.1:p.Ile4630=
NM_000540.3:c.13975A= MANE Select	NP_000531.2:p.Ile4659=
NM_001042723.2:c.13960A=	NP_001036188.1:p.Ile4654=