Canonical Allele Identifier: CA2335059574

Gene: RYR1

Linked Data

• dbSNP Id: rs1970759689

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512192_38512199del , CM000681.2:g.38512192_38512199del	GRCh38
NC_000019.9:g.39002832_39002839del , CM000681.1:g.39002832_39002839del	GRCh37
NC_000019.8:g.43694672_43694679del	NCBI36
NG_008866.1:g.83493_83500del , LRG_766:g.83493_83500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9173-53_9173-46del	ENSP00000471601.2:n.9173-53_9173-46del
ENST00000359596.8:c.9234-53_9234-46del MANE Select	ENSP00000352608.2:n.9234-53_9234-46del
ENST00000355481.8:c.9234-53_9234-46del	ENSP00000347667.3:n.9234-53_9234-46del
ENST00000359596.7:c.9234-53_9234-46del	ENSP00000352608.2:n.9234-53_9234-46del
ENST00000360985.7:c.9231-53_9231-46del	ENSP00000354254.4:n.9231-53_9231-46del
ENST00000594335.5:c.2636-53_2636-46del
ENST00000599547.5:c.41-53_41-46del
NM_000540.2:c.9234-53_9234-46del , LRG_766t1:c.9234-53_9234-46del	NP_000531.2:n.9234-53_9234-46del
NM_001042723.1:c.9234-53_9234-46del	NP_001036188.1:n.9234-53_9234-46del
XM_006723317.1:c.9234-53_9234-46del	XP_006723380.1:n.9234-53_9234-46del
XM_006723319.1:c.9234-53_9234-46del	XP_006723382.1:n.9234-53_9234-46del
XM_011527204.1:c.9231-53_9231-46del	XP_011525506.1:n.9231-53_9231-46del
XM_011527205.1:c.9234-53_9234-46del	XP_011525507.1:n.9234-53_9234-46del
XM_006723317.2:c.9234-53_9234-46del	XP_006723380.1:n.9234-53_9234-46del
XM_006723319.2:c.9234-53_9234-46del	XP_006723382.1:n.9234-53_9234-46del
XM_011527205.2:c.9234-53_9234-46del	XP_011525507.1:n.9234-53_9234-46del
XR_001753735.1:n.9267-53_9267-46del
NM_000540.3:c.9234-53_9234-46del MANE Select	NP_000531.2:n.9234-53_9234-46del
NM_001042723.2:c.9234-53_9234-46del	NP_001036188.1:n.9234-53_9234-46del