Canonical Allele Identifier: CA2335074555

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543869C= , CM000681.2:g.38543869C=	GRCh38
NC_000019.9:g.39034509C= , CM000681.1:g.39034509C=	GRCh37
NC_000019.8:g.43726349C=	NCBI36
NG_008866.1:g.115170C= , LRG_766:g.115170C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.416C=
ENST00000689936.1:c.398C=
ENST00000359596.8:c.12006C= MANE Select	ENSP00000352608.2:p.Leu4002=
ENST00000355481.8:c.11991C=	ENSP00000347667.3:p.Leu3997=
ENST00000359596.7:c.12006C=	ENSP00000352608.2:p.Leu4002=
ENST00000360985.7:c.11988C=	ENSP00000354254.4:p.Leu3996=
ENST00000593322.1:c.615C=
ENST00000594335.5:c.5375C=
NM_000540.2:c.12006C= , LRG_766t1:c.12006C=	NP_000531.2:p.Leu4002=
NM_001042723.1:c.11991C=	NP_001036188.1:p.Leu3997=
XM_006723317.1:c.11988C=	XP_006723380.1:p.Leu3996=
XM_006723319.1:c.11973C=	XP_006723382.1:p.Leu3991=
XM_011527204.1:c.12003C=	XP_011525506.1:p.Leu4001=
XM_011527205.1:c.12006C=	XP_011525507.1:p.Leu4002=
XM_006723317.2:c.11988C=	XP_006723380.1:p.Leu3996=
XM_006723319.2:c.11973C=	XP_006723382.1:p.Leu3991=
XM_011527205.2:c.12006C=	XP_011525507.1:p.Leu4002=
NM_000540.3:c.12006C= MANE Select	NP_000531.2:p.Leu4002=
NM_001042723.2:c.11991C=	NP_001036188.1:p.Leu3997=