Canonical Allele Identifier: CA082241

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499121dup , CM000681.2:g.38499121dup	GRCh38
NC_000019.9:g.38989761dup , CM000681.1:g.38989761dup	GRCh37
NC_000019.8:g.43681601dup	NCBI36
NG_008866.1:g.70422dup , LRG_766:g.70422dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6905dup	ENSP00000471601.2:p.Ala2303GlyfsTer?
ENST00000359596.8:c.6905dup MANE Select	ENSP00000352608.2:p.Ala2303GlyfsTer?
ENST00000355481.8:c.6905dup	ENSP00000347667.3:p.Ala2303GlyfsTer?
ENST00000359596.7:c.6905dup	ENSP00000352608.2:p.Ala2303GlyfsTer?
ENST00000360985.7:c.6902dup	ENSP00000354254.4:p.Ala2302GlyfsTer?
ENST00000594335.5:c.357dup
NM_000540.2:c.6905dup , LRG_766t1:c.6905dup	NP_000531.2:p.Ala2303GlyfsTer?
NM_001042723.1:c.6905dup	NP_001036188.1:p.Ala2303GlyfsTer?
XM_006723317.1:c.6905dup	XP_006723380.1:p.Ala2303GlyfsTer?
XM_006723319.1:c.6905dup	XP_006723382.1:p.Ala2303GlyfsTer?
XM_011527204.1:c.6902dup	XP_011525506.1:p.Ala2302GlyfsTer?
XM_011527205.1:c.6905dup	XP_011525507.1:p.Ala2303GlyfsTer?
XM_006723317.2:c.6905dup	XP_006723380.1:p.Ala2303GlyfsTer?
XM_006723319.2:c.6905dup	XP_006723382.1:p.Ala2303GlyfsTer?
XM_011527205.2:c.6905dup	XP_011525507.1:p.Ala2303GlyfsTer?
XR_001753735.1:n.6988dup
NM_000540.3:c.6905dup MANE Select	NP_000531.2:p.Ala2303GlyfsTer?
NM_001042723.2:c.6905dup	NP_001036188.1:p.Ala2303GlyfsTer?