Canonical Allele Identifier: CA2335084751

Gene: RYR1

Linked Data

• dbSNP Id: rs1973345662

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565227dup , CM000681.2:g.38565227dup	GRCh38
NC_000019.9:g.39055867dup , CM000681.1:g.39055867dup	GRCh37
NC_000019.8:g.43747707dup	NCBI36
NG_008866.1:g.136528dup , LRG_766:g.136528dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1303dup
ENST00000689936.1:c.1285dup
ENST00000359596.8:c.12893dup MANE Select	ENSP00000352608.2:p.Ala4299GlyfsTer?
ENST00000355481.8:c.12878dup	ENSP00000347667.3:p.Ala4294GlyfsTer?
ENST00000359596.7:c.12893dup	ENSP00000352608.2:p.Ala4299GlyfsTer?
ENST00000360985.7:c.12875dup	ENSP00000354254.4:p.Ala4293GlyfsTer?
ENST00000594335.5:c.6262dup
NM_000540.2:c.12893dup , LRG_766t1:c.12893dup	NP_000531.2:p.Ala4299GlyfsTer?
NM_001042723.1:c.12878dup	NP_001036188.1:p.Ala4294GlyfsTer?
XM_006723317.1:c.12875dup	XP_006723380.1:p.Ala4293GlyfsTer?
XM_006723319.1:c.12860dup	XP_006723382.1:p.Ala4288GlyfsTer?
XM_011527204.1:c.12890dup	XP_011525506.1:p.Ala4298GlyfsTer?
XM_011527205.1:c.12893dup	XP_011525507.1:p.Ala4299GlyfsTer?
XM_006723317.2:c.12875dup	XP_006723380.1:p.Ala4293GlyfsTer?
XM_006723319.2:c.12860dup	XP_006723382.1:p.Ala4288GlyfsTer?
XM_011527205.2:c.12893dup	XP_011525507.1:p.Ala4299GlyfsTer?
NM_000540.3:c.12893dup MANE Select	NP_000531.2:p.Ala4299GlyfsTer?
NM_001042723.2:c.12878dup	NP_001036188.1:p.Ala4294GlyfsTer?