Canonical Allele Identifier: CA2584900079

Gene: RYR1

Linked Data

• gnomAD v4: 19-38499878-G-GCCACCCCCACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499880_38499881insACCCCCACCCCCC , CM000681.2:g.38499880_38499881insACCCCCACCCCCC	GRCh38
NC_000019.9:g.38990520_38990521insACCCCCACCCCCC , CM000681.1:g.38990520_38990521insACCCCCACCCCCC	GRCh37
NC_000019.8:g.43682360_43682361insACCCCCACCCCCC	NCBI36
NG_008866.1:g.71181_71182insACCCCCACCCCCC , LRG_766:g.71181_71182insACCCCCACCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7215-28_7215-27insACCCCCACCCCCC	ENSP00000471601.2:n.7215-28_7215-27insACCCCCACCCCCC
ENST00000359596.8:c.7215-28_7215-27insACCCCCACCCCCC MANE Select	ENSP00000352608.2:n.7215-28_7215-27insACCCCCACCCCCC
ENST00000355481.8:c.7215-28_7215-27insACCCCCACCCCCC	ENSP00000347667.3:n.7215-28_7215-27insACCCCCACCCCCC
ENST00000359596.7:c.7215-28_7215-27insACCCCCACCCCCC	ENSP00000352608.2:n.7215-28_7215-27insACCCCCACCCCCC
ENST00000360985.7:c.7212-28_7212-27insACCCCCACCCCCC	ENSP00000354254.4:n.7212-28_7212-27insACCCCCACCCCCC
ENST00000594335.5:c.667-28_667-27insACCCCCACCCCCC
NM_000540.2:c.7215-28_7215-27insACCCCCACCCCCC , LRG_766t1:c.7215-28_7215-27insACCCCCACCCCCC	NP_000531.2:n.7215-28_7215-27insACCCCCACCCCCC
NM_001042723.1:c.7215-28_7215-27insACCCCCACCCCCC	NP_001036188.1:n.7215-28_7215-27insACCCCCACCCCCC
XM_006723317.1:c.7215-28_7215-27insACCCCCACCCCCC	XP_006723380.1:n.7215-28_7215-27insACCCCCACCCCCC
XM_006723319.1:c.7215-28_7215-27insACCCCCACCCCCC	XP_006723382.1:n.7215-28_7215-27insACCCCCACCCCCC
XM_011527204.1:c.7212-28_7212-27insACCCCCACCCCCC	XP_011525506.1:n.7212-28_7212-27insACCCCCACCCCCC
XM_011527205.1:c.7215-28_7215-27insACCCCCACCCCCC	XP_011525507.1:n.7215-28_7215-27insACCCCCACCCCCC
XM_006723317.2:c.7215-28_7215-27insACCCCCACCCCCC	XP_006723380.1:n.7215-28_7215-27insACCCCCACCCCCC
XM_006723319.2:c.7215-28_7215-27insACCCCCACCCCCC	XP_006723382.1:n.7215-28_7215-27insACCCCCACCCCCC
XM_011527205.2:c.7215-28_7215-27insACCCCCACCCCCC	XP_011525507.1:n.7215-28_7215-27insACCCCCACCCCCC
XR_001753735.1:n.7298-28_7298-27insACCCCCACCCCCC
NM_000540.3:c.7215-28_7215-27insACCCCCACCCCCC MANE Select	NP_000531.2:n.7215-28_7215-27insACCCCCACCCCCC
NM_001042723.2:c.7215-28_7215-27insACCCCCACCCCCC	NP_001036188.1:n.7215-28_7215-27insACCCCCACCCCCC