Canonical Allele Identifier: CA2335092281

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580057C= , CM000681.2:g.38580057C=	GRCh38
NC_000019.9:g.39070697C= , CM000681.1:g.39070697C=	GRCh37
NC_000019.8:g.43762537C=	NCBI36
NG_008866.1:g.151358C= , LRG_766:g.151358C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14440C= MANE Select	NP_000531.2:p.Leu4814=
ENST00000359596.8:c.14440C= MANE Select	ENSP00000352608.2:p.Leu4814=
NM_000540.2:c.14440C= , LRG_766t1:c.14440C=	NP_000531.2:p.Leu4814=
NM_001042723.1:c.14425C=	NP_001036188.1:p.Leu4809=
NM_001042723.2:c.14425C=	NP_001036188.1:p.Leu4809=
ENST00000355481.8:c.14425C=	ENSP00000347667.3:p.Leu4809=
ENST00000359596.7:c.14440C=	ENSP00000352608.2:p.Leu4814=
ENST00000360985.7:c.14422C=	ENSP00000354254.4:p.Leu4808=
ENST00000593677.2:c.1376C=
ENST00000688602.1:c.2773C=
ENST00000689936.1:c.2745C=
XM_006723317.1:c.14422C=	XP_006723380.1:p.Leu4808=
XM_006723317.2:c.14422C=	XP_006723380.1:p.Leu4808=
XM_006723319.1:c.14407C=	XP_006723382.1:p.Leu4803=
XM_006723319.2:c.14407C=	XP_006723382.1:p.Leu4803=
XM_011527204.1:c.14437C=	XP_011525506.1:p.Leu4813=
XM_011527205.1:c.14353C=	XP_011525507.1:p.Leu4785=
XM_011527205.2:c.14353C=	XP_011525507.1:p.Leu4785=