Canonical Allele Identifier: CA1139666424

Gene: RYR1

Linked Data

• ClinVar Variation Id: 982922
• ClinVar RCV Id: RCV001262655
• dbSNP Id: rs1970255367

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502891del , CM000681.2:g.38502891del	GRCh38
NC_000019.9:g.38993531del , CM000681.1:g.38993531del	GRCh37
NC_000019.8:g.43685371del	NCBI36
NG_008866.1:g.74192del , LRG_766:g.74192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7847del	ENSP00000471601.2:p.Pro2616ArgfsTer?
ENST00000359596.8:c.7847del MANE Select	ENSP00000352608.2:p.Pro2616ArgfsTer?
ENST00000355481.8:c.7847del	ENSP00000347667.3:p.Pro2616ArgfsTer?
ENST00000359596.7:c.7847del	ENSP00000352608.2:p.Pro2616ArgfsTer?
ENST00000360985.7:c.7844del	ENSP00000354254.4:p.Pro2615ArgfsTer?
ENST00000594335.5:c.1299del
NM_000540.2:c.7847del , LRG_766t1:c.7847del	NP_000531.2:p.Pro2616ArgfsTer?
NM_001042723.1:c.7847del	NP_001036188.1:p.Pro2616ArgfsTer?
XM_006723317.1:c.7847del	XP_006723380.1:p.Pro2616ArgfsTer?
XM_006723319.1:c.7847del	XP_006723382.1:p.Pro2616ArgfsTer?
XM_011527204.1:c.7844del	XP_011525506.1:p.Pro2615ArgfsTer?
XM_011527205.1:c.7847del	XP_011525507.1:p.Pro2616ArgfsTer?
XM_006723317.2:c.7847del	XP_006723380.1:p.Pro2616ArgfsTer?
XM_006723319.2:c.7847del	XP_006723382.1:p.Pro2616ArgfsTer?
XM_011527205.2:c.7847del	XP_011525507.1:p.Pro2616ArgfsTer?
XR_001753735.1:n.7930del
NM_000540.3:c.7847del MANE Select	NP_000531.2:p.Pro2616ArgfsTer?
NM_001042723.2:c.7847del	NP_001036188.1:p.Pro2616ArgfsTer?