Canonical Allele Identifier: CA2335092293

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580088T= , CM000681.2:g.38580088T=	GRCh38
NC_000019.9:g.39070728T= , CM000681.1:g.39070728T=	GRCh37
NC_000019.8:g.43762568T=	NCBI36
NG_008866.1:g.151389T= , LRG_766:g.151389T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1407T=
ENST00000688602.1:c.2804T=
ENST00000689936.1:c.2776T=
ENST00000359596.8:c.14471T= MANE Select	ENSP00000352608.2:p.Leu4824=
ENST00000355481.8:c.14456T=	ENSP00000347667.3:p.Leu4819=
ENST00000359596.7:c.14471T=	ENSP00000352608.2:p.Leu4824=
ENST00000360985.7:c.14453T=	ENSP00000354254.4:p.Leu4818=
NM_000540.2:c.14471T= , LRG_766t1:c.14471T=	NP_000531.2:p.Leu4824=
NM_001042723.1:c.14456T=	NP_001036188.1:p.Leu4819=
XM_006723317.1:c.14453T=	XP_006723380.1:p.Leu4818=
XM_006723319.1:c.14438T=	XP_006723382.1:p.Leu4813=
XM_011527204.1:c.14468T=	XP_011525506.1:p.Leu4823=
XM_011527205.1:c.14384T=	XP_011525507.1:p.Leu4795=
XM_006723317.2:c.14453T=	XP_006723380.1:p.Leu4818=
XM_006723319.2:c.14438T=	XP_006723382.1:p.Leu4813=
XM_011527205.2:c.14384T=	XP_011525507.1:p.Leu4795=
NM_000540.3:c.14471T= MANE Select	NP_000531.2:p.Leu4824=
NM_001042723.2:c.14456T=	NP_001036188.1:p.Leu4819=