Canonical Allele Identifier: CA2335066989

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38527777T= , CM000681.2:g.38527777T=	GRCh38
NC_000019.9:g.39018417T= , CM000681.1:g.39018417T=	GRCh37
NC_000019.8:g.43710257T=	NCBI36
NG_008866.1:g.99078T= , LRG_766:g.99078T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.10817T= MANE Select	NP_000531.2:p.Leu3606=
ENST00000359596.8:c.10817T= MANE Select	ENSP00000352608.2:p.Leu3606=
NM_000540.2:c.10817T= , LRG_766t1:c.10817T=	NP_000531.2:p.Leu3606=
NM_001042723.1:c.10802T=	NP_001036188.1:p.Leu3601=
NM_001042723.2:c.10802T=	NP_001036188.1:p.Leu3601=
ENST00000355481.8:c.10802T=	ENSP00000347667.3:p.Leu3601=
ENST00000359596.7:c.10817T=	ENSP00000352608.2:p.Leu3606=
ENST00000360985.7:c.10799T=	ENSP00000354254.4:p.Leu3600=
ENST00000594335.5:c.4204T=
ENST00000599547.5:c.1624T=
ENST00000599547.6:c.10756T=	ENSP00000471601.2:n.10756T=
XM_006723317.1:c.10817T=	XP_006723380.1:p.Leu3606=
XM_006723317.2:c.10817T=	XP_006723380.1:p.Leu3606=
XM_006723319.1:c.10802T=	XP_006723382.1:p.Leu3601=
XM_006723319.2:c.10802T=	XP_006723382.1:p.Leu3601=
XM_011527204.1:c.10814T=	XP_011525506.1:p.Leu3605=
XM_011527205.1:c.10817T=	XP_011525507.1:p.Leu3606=
XM_011527205.2:c.10817T=	XP_011525507.1:p.Leu3606=
XR_001753936.1:n.236-2A=