Canonical Allele Identifier: CA2335094939

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584974G= , CM000681.2:g.38584974G=	GRCh38
NC_000019.9:g.39075614G= , CM000681.1:g.39075614G=	GRCh37
NC_000019.8:g.43767454G=	NCBI36
NG_008866.1:g.156275G= , LRG_766:g.156275G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14678G= MANE Select	NP_000531.2:p.Arg4893=
ENST00000359596.8:c.14678G= MANE Select	ENSP00000352608.2:p.Arg4893=
NM_000540.2:c.14678G= , LRG_766t1:c.14678G=	NP_000531.2:p.Arg4893=
NM_001042723.1:c.14663G=	NP_001036188.1:p.Arg4888=
NM_001042723.2:c.14663G=	NP_001036188.1:p.Arg4888=
ENST00000355481.8:c.14663G=	ENSP00000347667.3:p.Arg4888=
ENST00000359596.7:c.14678G=	ENSP00000352608.2:p.Arg4893=
ENST00000360985.7:c.14660G=	ENSP00000354254.4:p.Arg4887=
ENST00000593677.2:c.1614G=
ENST00000688602.1:c.3011G=
ENST00000689936.1:c.2983G=
ENST00000692547.1:n.71G=
XM_006723317.1:c.14660G=	XP_006723380.1:p.Arg4887=
XM_006723317.2:c.14660G=	XP_006723380.1:p.Arg4887=
XM_006723319.1:c.14645G=	XP_006723382.1:p.Arg4882=
XM_006723319.2:c.14645G=	XP_006723382.1:p.Arg4882=
XM_011527204.1:c.14675G=	XP_011525506.1:p.Arg4892=
XM_011527205.1:c.14591G=	XP_011525507.1:p.Arg4864=
XM_011527205.2:c.14591G=	XP_011525507.1:p.Arg4864=