Canonical Allele Identifier: CA2576772091

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565139_38565151dup , CM000681.2:g.38565139_38565151dup	GRCh38
NC_000019.9:g.39055779_39055791dup , CM000681.1:g.39055779_39055791dup	GRCh37
NC_000019.8:g.43747619_43747631dup	NCBI36
NG_008866.1:g.136440_136452dup , LRG_766:g.136440_136452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1215_1227dup
ENST00000689936.1:c.1197_1209dup
ENST00000359596.8:c.12805_12817dup MANE Select	ENSP00000352608.2:p.Glu4273GlyfsTer?
ENST00000355481.8:c.12790_12802dup	ENSP00000347667.3:p.Glu4268GlyfsTer?
ENST00000359596.7:c.12805_12817dup	ENSP00000352608.2:p.Glu4273GlyfsTer?
ENST00000360985.7:c.12787_12799dup	ENSP00000354254.4:p.Glu4267GlyfsTer?
ENST00000594335.5:c.6174_6186dup
NM_000540.2:c.12805_12817dup , LRG_766t1:c.12805_12817dup	NP_000531.2:p.Glu4273GlyfsTer?
NM_001042723.1:c.12790_12802dup	NP_001036188.1:p.Glu4268GlyfsTer?
XM_006723317.1:c.12787_12799dup	XP_006723380.1:p.Glu4267GlyfsTer?
XM_006723319.1:c.12772_12784dup	XP_006723382.1:p.Glu4262GlyfsTer?
XM_011527204.1:c.12802_12814dup	XP_011525506.1:p.Glu4272GlyfsTer?
XM_011527205.1:c.12805_12817dup	XP_011525507.1:p.Glu4273GlyfsTer?
XM_006723317.2:c.12787_12799dup	XP_006723380.1:p.Glu4267GlyfsTer?
XM_006723319.2:c.12772_12784dup	XP_006723382.1:p.Glu4262GlyfsTer?
XM_011527205.2:c.12805_12817dup	XP_011525507.1:p.Glu4273GlyfsTer?
NM_000540.3:c.12805_12817dup MANE Select	NP_000531.2:p.Glu4273GlyfsTer?
NM_001042723.2:c.12790_12802dup	NP_001036188.1:p.Glu4268GlyfsTer?