Canonical Allele Identifier: CA2335084847

Gene: RYR1

Linked Data

• dbSNP Id: rs1271736045

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565389_38565391dup , CM000681.2:g.38565389_38565391dup	GRCh38
NC_000019.9:g.39056029_39056031dup , CM000681.1:g.39056029_39056031dup	GRCh37
NC_000019.8:g.43747869_43747871dup	NCBI36
NG_008866.1:g.136690_136692dup , LRG_766:g.136690_136692dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1465_1467dup
ENST00000689936.1:c.1447_1449dup
ENST00000359596.8:c.13055_13057dup MANE Select	ENSP00000352608.2:p.Ala4352_Gly4353insAla
ENST00000355481.8:c.13040_13042dup	ENSP00000347667.3:p.Ala4347_Gly4348insAla
ENST00000359596.7:c.13055_13057dup	ENSP00000352608.2:p.Ala4352_Gly4353insAla
ENST00000360985.7:c.13037_13039dup	ENSP00000354254.4:p.Ala4346_Gly4347insAla
NM_000540.2:c.13055_13057dup , LRG_766t1:c.13055_13057dup	NP_000531.2:p.Ala4352_Gly4353insAla
NM_001042723.1:c.13040_13042dup	NP_001036188.1:p.Ala4347_Gly4348insAla
XM_006723317.1:c.13037_13039dup	XP_006723380.1:p.Ala4346_Gly4347insAla
XM_006723319.1:c.13022_13024dup	XP_006723382.1:p.Ala4341_Gly4342insAla
XM_011527204.1:c.13052_13054dup	XP_011525506.1:p.Ala4351_Gly4352insAla
XM_011527205.1:c.13055_13057dup	XP_011525507.1:p.Ala4352_Gly4353insAla
XM_006723317.2:c.13037_13039dup	XP_006723380.1:p.Ala4346_Gly4347insAla
XM_006723319.2:c.13022_13024dup	XP_006723382.1:p.Ala4341_Gly4342insAla
XM_011527205.2:c.13055_13057dup	XP_011525507.1:p.Ala4352_Gly4353insAla
NM_000540.3:c.13055_13057dup MANE Select	NP_000531.2:p.Ala4352_Gly4353insAla
NM_001042723.2:c.13040_13042dup	NP_001036188.1:p.Ala4347_Gly4348insAla