Canonical Allele Identifier: CA2335094927

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584949C= , CM000681.2:g.38584949C=	GRCh38
NC_000019.9:g.39075589C= , CM000681.1:g.39075589C=	GRCh37
NC_000019.8:g.43767429C=	NCBI36
NG_008866.1:g.156250C= , LRG_766:g.156250C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1589C=
ENST00000688602.1:c.2986C=
ENST00000689936.1:c.2958C=
ENST00000692547.1:n.46C=
ENST00000359596.8:c.14653C= MANE Select	ENSP00000352608.2:p.Leu4885=
ENST00000355481.8:c.14638C=	ENSP00000347667.3:p.Leu4880=
ENST00000359596.7:c.14653C=	ENSP00000352608.2:p.Leu4885=
ENST00000360985.7:c.14635C=	ENSP00000354254.4:p.Leu4879=
NM_000540.2:c.14653C= , LRG_766t1:c.14653C=	NP_000531.2:p.Leu4885=
NM_001042723.1:c.14638C=	NP_001036188.1:p.Leu4880=
XM_006723317.1:c.14635C=	XP_006723380.1:p.Leu4879=
XM_006723319.1:c.14620C=	XP_006723382.1:p.Leu4874=
XM_011527204.1:c.14650C=	XP_011525506.1:p.Leu4884=
XM_011527205.1:c.14566C=	XP_011525507.1:p.Leu4856=
XM_006723317.2:c.14635C=	XP_006723380.1:p.Leu4879=
XM_006723319.2:c.14620C=	XP_006723382.1:p.Leu4874=
XM_011527205.2:c.14566C=	XP_011525507.1:p.Leu4856=
NM_000540.3:c.14653C= MANE Select	NP_000531.2:p.Leu4885=
NM_001042723.2:c.14638C=	NP_001036188.1:p.Leu4880=