Canonical Allele Identifier: CA2584907060

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2733479
• ClinVar RCV Id: RCV003593280
• gnomAD v4: 19-38535978-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38535978T>G , CM000681.2:g.38535978T>G	GRCh38
NC_000019.9:g.39026618T>G , CM000681.1:g.39026618T>G	GRCh37
NC_000019.8:g.43718458T>G	NCBI36
NG_008866.1:g.107279T>G , LRG_766:g.107279T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000359596.8:c.11517-19T>G MANE Select	ENSP00000352608.2:n.11517-19T>G
ENST00000355481.8:c.11502-19T>G	ENSP00000347667.3:n.11502-19T>G
ENST00000359596.7:c.11517-19T>G	ENSP00000352608.2:n.11517-19T>G
ENST00000360985.7:c.11499-19T>G	ENSP00000354254.4:n.11499-19T>G
ENST00000593322.1:c.217+586T>G
ENST00000594335.5:c.4904-19T>G
ENST00000596431.5:c.246-19T>G	ENSP00000470848.1:n.246-19T>G
ENST00000601514.5:c.798-19T>G	ENSP00000472497.1:n.798-19T>G
NM_000540.2:c.11517-19T>G , LRG_766t1:c.11517-19T>G	NP_000531.2:n.11517-19T>G
NM_001042723.1:c.11502-19T>G	NP_001036188.1:n.11502-19T>G
XM_006723317.1:c.11517-19T>G	XP_006723380.1:n.11517-19T>G
XM_006723319.1:c.11502-19T>G	XP_006723382.1:n.11502-19T>G
XM_011527204.1:c.11514-19T>G	XP_011525506.1:n.11514-19T>G
XM_011527205.1:c.11517-19T>G	XP_011525507.1:n.11517-19T>G
XM_006723317.2:c.11517-19T>G	XP_006723380.1:n.11517-19T>G
XM_006723319.2:c.11502-19T>G	XP_006723382.1:n.11502-19T>G
XM_011527205.2:c.11517-19T>G	XP_011525507.1:n.11517-19T>G
NM_000540.3:c.11517-19T>G MANE Select	NP_000531.2:n.11517-19T>G
NM_001042723.2:c.11502-19T>G	NP_001036188.1:n.11502-19T>G