Canonical Allele Identifier: CA2335095493

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585949G= , CM000681.2:g.38585949G=	GRCh38
NC_000019.9:g.39076589G= , CM000681.1:g.39076589G=	GRCh37
NC_000019.8:g.43768429G=	NCBI36
NG_008866.1:g.157250G= , LRG_766:g.157250G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1751G=
ENST00000688602.1:c.3148G=
ENST00000689936.1:c.3120G=
ENST00000692547.1:n.208G=
ENST00000359596.8:c.14815G= MANE Select	ENSP00000352608.2:p.Asp4939=
ENST00000355481.8:c.14800G=	ENSP00000347667.3:p.Asp4934=
ENST00000359596.7:c.14815G=	ENSP00000352608.2:p.Asp4939=
ENST00000360985.7:c.14797G=	ENSP00000354254.4:p.Asp4933=
NM_000540.2:c.14815G= , LRG_766t1:c.14815G=	NP_000531.2:p.Asp4939=
NM_001042723.1:c.14800G=	NP_001036188.1:p.Asp4934=
XM_006723317.1:c.14797G=	XP_006723380.1:p.Asp4933=
XM_006723319.1:c.14782G=	XP_006723382.1:p.Asp4928=
XM_011527204.1:c.14812G=	XP_011525506.1:p.Asp4938=
XM_011527205.1:c.14728G=	XP_011525507.1:p.Asp4910=
XM_006723317.2:c.14797G=	XP_006723380.1:p.Asp4933=
XM_006723319.2:c.14782G=	XP_006723382.1:p.Asp4928=
XM_011527205.2:c.14728G=	XP_011525507.1:p.Asp4910=
NM_000540.3:c.14815G= MANE Select	NP_000531.2:p.Asp4939=
NM_001042723.2:c.14800G=	NP_001036188.1:p.Asp4934=