Canonical Allele Identifier: CA308108960

Gene: RYR1

Linked Data

• dbSNP Id: rs118192128

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564974_38565021del , CM000681.2:g.38564974_38565021del	GRCh38
NC_000019.9:g.39055614_39055661del , CM000681.1:g.39055614_39055661del	GRCh37
NC_000019.8:g.43747454_43747501del	NCBI36
NG_008866.1:g.136275_136322del , LRG_766:g.136275_136322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1050_1097del
ENST00000689936.1:c.1032_1079del
ENST00000359596.8:c.12640_12687del MANE Select	ENSP00000352608.2:p.Arg4214_Lys4229del
ENST00000355481.8:c.12625_12672del	ENSP00000347667.3:p.Arg4209_Lys4224del
ENST00000359596.7:c.12640_12687del	ENSP00000352608.2:p.Arg4214_Lys4229del
ENST00000360985.7:c.12622_12669del	ENSP00000354254.4:p.Arg4208_Lys4223del
ENST00000594335.5:c.6009_6056del
NM_000540.2:c.12640_12687del , LRG_766t1:c.12640_12687del	NP_000531.2:p.Arg4214_Lys4229del
NM_001042723.1:c.12625_12672del	NP_001036188.1:p.Arg4209_Lys4224del
XM_006723317.1:c.12622_12669del	XP_006723380.1:p.Arg4208_Lys4223del
XM_006723319.1:c.12607_12654del	XP_006723382.1:p.Arg4203_Lys4218del
XM_011527204.1:c.12637_12684del	XP_011525506.1:p.Arg4213_Lys4228del
XM_011527205.1:c.12640_12687del	XP_011525507.1:p.Arg4214_Lys4229del
XM_006723317.2:c.12622_12669del	XP_006723380.1:p.Arg4208_Lys4223del
XM_006723319.2:c.12607_12654del	XP_006723382.1:p.Arg4203_Lys4218del
XM_011527205.2:c.12640_12687del	XP_011525507.1:p.Arg4214_Lys4229del
NM_000540.3:c.12640_12687del MANE Select	NP_000531.2:p.Arg4214_Lys4229del
NM_001042723.2:c.12625_12672del	NP_001036188.1:p.Arg4209_Lys4224del