Canonical Allele Identifier: CA995715386

Gene: RYR1

Linked Data

• dbSNP Id: rs1969994481
• gnomAD v3: 19-38499431-ATCCT-A
• gnomAD v4: 19-38499431-ATCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499432_38499435del , CM000681.2:g.38499432_38499435del	GRCh38
NC_000019.9:g.38990072_38990075del , CM000681.1:g.38990072_38990075del	GRCh37
NC_000019.8:g.43681912_43681915del	NCBI36
NG_008866.1:g.70733_70736del , LRG_766:g.70733_70736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7027+189_7027+192del	ENSP00000471601.2:n.7027+189_7027+192del
ENST00000359596.8:c.7027+189_7027+192del MANE Select	ENSP00000352608.2:n.7027+189_7027+192del
ENST00000355481.8:c.7027+189_7027+192del	ENSP00000347667.3:n.7027+189_7027+192del
ENST00000359596.7:c.7027+189_7027+192del	ENSP00000352608.2:n.7027+189_7027+192del
ENST00000360985.7:c.7024+189_7024+192del	ENSP00000354254.4:n.7024+189_7024+192del
ENST00000594335.5:c.479+189_479+192del
NM_000540.2:c.7027+189_7027+192del , LRG_766t1:c.7027+189_7027+192del	NP_000531.2:n.7027+189_7027+192del
NM_001042723.1:c.7027+189_7027+192del	NP_001036188.1:n.7027+189_7027+192del
XM_006723317.1:c.7027+189_7027+192del	XP_006723380.1:n.7027+189_7027+192del
XM_006723319.1:c.7027+189_7027+192del	XP_006723382.1:n.7027+189_7027+192del
XM_011527204.1:c.7024+189_7024+192del	XP_011525506.1:n.7024+189_7024+192del
XM_011527205.1:c.7027+189_7027+192del	XP_011525507.1:n.7027+189_7027+192del
XM_006723317.2:c.7027+189_7027+192del	XP_006723380.1:n.7027+189_7027+192del
XM_006723319.2:c.7027+189_7027+192del	XP_006723382.1:n.7027+189_7027+192del
XM_011527205.2:c.7027+189_7027+192del	XP_011525507.1:n.7027+189_7027+192del
XR_001753735.1:n.7110+189_7110+192del
NM_000540.3:c.7027+189_7027+192del MANE Select	NP_000531.2:n.7027+189_7027+192del
NM_001042723.2:c.7027+189_7027+192del	NP_001036188.1:n.7027+189_7027+192del