Canonical Allele Identifier: CA2335094975

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585037G= , CM000681.2:g.38585037G=	GRCh38
NC_000019.9:g.39075677G= , CM000681.1:g.39075677G=	GRCh37
NC_000019.8:g.43767517G=	NCBI36
NG_008866.1:g.156338G= , LRG_766:g.156338G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14741G= MANE Select	NP_000531.2:p.Arg4914=
ENST00000359596.8:c.14741G= MANE Select	ENSP00000352608.2:p.Arg4914=
NM_000540.2:c.14741G= , LRG_766t1:c.14741G=	NP_000531.2:p.Arg4914=
NM_001042723.1:c.14726G=	NP_001036188.1:p.Arg4909=
NM_001042723.2:c.14726G=	NP_001036188.1:p.Arg4909=
ENST00000355481.8:c.14726G=	ENSP00000347667.3:p.Arg4909=
ENST00000359596.7:c.14741G=	ENSP00000352608.2:p.Arg4914=
ENST00000360985.7:c.14723G=	ENSP00000354254.4:p.Arg4908=
ENST00000593677.2:c.1677G=
ENST00000688602.1:c.3074G=
ENST00000689936.1:c.3046G=
ENST00000692547.1:n.134G=
XM_006723317.1:c.14723G=	XP_006723380.1:p.Arg4908=
XM_006723317.2:c.14723G=	XP_006723380.1:p.Arg4908=
XM_006723319.1:c.14708G=	XP_006723382.1:p.Arg4903=
XM_006723319.2:c.14708G=	XP_006723382.1:p.Arg4903=
XM_011527204.1:c.14738G=	XP_011525506.1:p.Arg4913=
XM_011527205.1:c.14654G=	XP_011525507.1:p.Arg4885=
XM_011527205.2:c.14654G=	XP_011525507.1:p.Arg4885=