Canonical Allele Identifier: CA2959596545

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565129_38565569del , CM000681.2:g.38565129_38565569del	GRCh38
NC_000019.9:g.39055769_39056209del , CM000681.1:g.39055769_39056209del	GRCh37
NC_000019.8:g.43747609_43748049del	NCBI36
NG_008866.1:g.136430_136870del , LRG_766:g.136430_136870del

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.12795_13235del MANE Select	NP_000531.2:p.Gly4266_Ala4412del
ENST00000359596.8:c.12795_13235del MANE Select	ENSP00000352608.2:p.Gly4266_Ala4412del
NM_000540.2:c.12795_13235del , LRG_766t1:c.12795_13235del	NP_000531.2:p.Gly4266_Ala4412del
NM_001042723.1:c.12780_13220del	NP_001036188.1:p.Gly4261_Ala4407del
NM_001042723.2:c.12780_13220del	NP_001036188.1:p.Gly4261_Ala4407del
ENST00000355481.8:c.12780_13220del	ENSP00000347667.3:p.Gly4261_Ala4407del
ENST00000359596.7:c.12795_13235del	ENSP00000352608.2:p.Gly4266_Ala4412del
ENST00000360985.7:c.12777_13217del	ENSP00000354254.4:p.Gly4260_Ala4406del
ENST00000688602.1:c.1205_1645del
ENST00000689936.1:c.1187_1627del
XM_006723317.1:c.12777_13217del	XP_006723380.1:p.Gly4260_Ala4406del
XM_006723317.2:c.12777_13217del	XP_006723380.1:p.Gly4260_Ala4406del
XM_006723319.1:c.12762_13202del	XP_006723382.1:p.Gly4255_Ala4401del
XM_006723319.2:c.12762_13202del	XP_006723382.1:p.Gly4255_Ala4401del
XM_011527204.1:c.12792_13232del	XP_011525506.1:p.Gly4265_Ala4411del
XM_011527205.1:c.12795_13235del	XP_011525507.1:p.Gly4266_Ala4412del
XM_011527205.2:c.12795_13235del	XP_011525507.1:p.Gly4266_Ala4412del