Canonical Allele Identifier: CA2335088361

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572048C= , CM000681.2:g.38572048C=	GRCh38
NC_000019.9:g.39062688C= , CM000681.1:g.39062688C=	GRCh37
NC_000019.8:g.43754528C=	NCBI36
NG_008866.1:g.143349C= , LRG_766:g.143349C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.712C=
ENST00000688602.1:c.2109C=
ENST00000689936.1:c.2081C=
ENST00000359596.8:c.13776C= MANE Select	ENSP00000352608.2:p.Asp4592=
ENST00000355481.8:c.13761C=	ENSP00000347667.3:p.Asp4587=
ENST00000359596.7:c.13776C=	ENSP00000352608.2:p.Asp4592=
ENST00000360985.7:c.13758C=	ENSP00000354254.4:p.Asp4586=
ENST00000593677.1:c.236C=
NM_000540.2:c.13776C= , LRG_766t1:c.13776C=	NP_000531.2:p.Asp4592=
NM_001042723.1:c.13761C=	NP_001036188.1:p.Asp4587=
XM_006723317.1:c.13758C=	XP_006723380.1:p.Asp4586=
XM_006723319.1:c.13743C=	XP_006723382.1:p.Asp4581=
XM_011527204.1:c.13773C=	XP_011525506.1:p.Asp4591=
XM_011527205.1:c.13689C=	XP_011525507.1:p.Asp4563=
XM_006723317.2:c.13758C=	XP_006723380.1:p.Asp4586=
XM_006723319.2:c.13743C=	XP_006723382.1:p.Asp4581=
XM_011527205.2:c.13689C=	XP_011525507.1:p.Asp4563=
NM_000540.3:c.13776C= MANE Select	NP_000531.2:p.Asp4592=
NM_001042723.2:c.13761C=	NP_001036188.1:p.Asp4587=