Canonical Allele Identifier: CA2584909153

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565488-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565492del , CM000681.2:g.38565492del	GRCh38
NC_000019.9:g.39056132del , CM000681.1:g.39056132del	GRCh37
NC_000019.8:g.43747972del	NCBI36
NG_008866.1:g.136793del , LRG_766:g.136793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.94del
ENST00000688602.1:c.1568del
ENST00000689936.1:c.1550del
ENST00000359596.8:c.13158del MANE Select	ENSP00000352608.2:p.Thr4387ProfsTer?
ENST00000355481.8:c.13143del	ENSP00000347667.3:p.Thr4382ProfsTer?
ENST00000359596.7:c.13158del	ENSP00000352608.2:p.Thr4387ProfsTer?
ENST00000360985.7:c.13140del	ENSP00000354254.4:p.Thr4381ProfsTer?
NM_000540.2:c.13158del , LRG_766t1:c.13158del	NP_000531.2:p.Thr4387ProfsTer?
NM_001042723.1:c.13143del	NP_001036188.1:p.Thr4382ProfsTer?
XM_006723317.1:c.13140del	XP_006723380.1:p.Thr4381ProfsTer?
XM_006723319.1:c.13125del	XP_006723382.1:p.Thr4376ProfsTer?
XM_011527204.1:c.13155del	XP_011525506.1:p.Thr4386ProfsTer?
XM_011527205.1:c.13158del	XP_011525507.1:p.Thr4387ProfsTer?
XM_006723317.2:c.13140del	XP_006723380.1:p.Thr4381ProfsTer?
XM_006723319.2:c.13125del	XP_006723382.1:p.Thr4376ProfsTer?
XM_011527205.2:c.13158del	XP_011525507.1:p.Thr4387ProfsTer?
NM_000540.3:c.13158del MANE Select	NP_000531.2:p.Thr4387ProfsTer?
NM_001042723.2:c.13143del	NP_001036188.1:p.Thr4382ProfsTer?