Canonical Allele Identifier: CA2335053024

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499947G= , CM000681.2:g.38499947G=	GRCh38
NC_000019.9:g.38990587G= , CM000681.1:g.38990587G=	GRCh37
NC_000019.8:g.43682427G=	NCBI36
NG_008866.1:g.71248G= , LRG_766:g.71248G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7254G=	ENSP00000471601.2:p.Leu2418=
ENST00000359596.8:c.7254G= MANE Select	ENSP00000352608.2:p.Leu2418=
ENST00000355481.8:c.7254G=	ENSP00000347667.3:p.Leu2418=
ENST00000359596.7:c.7254G=	ENSP00000352608.2:p.Leu2418=
ENST00000360985.7:c.7251G=	ENSP00000354254.4:p.Leu2417=
ENST00000594335.5:c.706G=
NM_000540.2:c.7254G= , LRG_766t1:c.7254G=	NP_000531.2:p.Leu2418=
NM_001042723.1:c.7254G=	NP_001036188.1:p.Leu2418=
XM_006723317.1:c.7254G=	XP_006723380.1:p.Leu2418=
XM_006723319.1:c.7254G=	XP_006723382.1:p.Leu2418=
XM_011527204.1:c.7251G=	XP_011525506.1:p.Leu2417=
XM_011527205.1:c.7254G=	XP_011525507.1:p.Leu2418=
XM_006723317.2:c.7254G=	XP_006723380.1:p.Leu2418=
XM_006723319.2:c.7254G=	XP_006723382.1:p.Leu2418=
XM_011527205.2:c.7254G=	XP_011525507.1:p.Leu2418=
XR_001753735.1:n.7337G=
NM_000540.3:c.7254G= MANE Select	NP_000531.2:p.Leu2418=
NM_001042723.2:c.7254G=	NP_001036188.1:p.Leu2418=