Canonical Allele Identifier: CA2576804835

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2884118
• ClinVar RCV Id: RCV003758008
• gnomAD v4: 19-38543522-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543522C>G , CM000681.2:g.38543522C>G	GRCh38
NC_000019.9:g.39034162C>G , CM000681.1:g.39034162C>G	GRCh37
NC_000019.8:g.43726002C>G	NCBI36
NG_008866.1:g.114823C>G , LRG_766:g.114823C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.189-10C>G
ENST00000689936.1:c.171-10C>G
ENST00000359596.8:c.11779-10C>G MANE Select	ENSP00000352608.2:n.11779-10C>G
ENST00000355481.8:c.11764-10C>G	ENSP00000347667.3:n.11764-10C>G
ENST00000359596.7:c.11779-10C>G	ENSP00000352608.2:n.11779-10C>G
ENST00000360985.7:c.11761-10C>G	ENSP00000354254.4:n.11761-10C>G
ENST00000593322.1:c.388-10C>G
ENST00000594335.5:c.5148-10C>G
NM_000540.2:c.11779-10C>G , LRG_766t1:c.11779-10C>G	NP_000531.2:n.11779-10C>G
NM_001042723.1:c.11764-10C>G	NP_001036188.1:n.11764-10C>G
XM_006723317.1:c.11761-10C>G	XP_006723380.1:n.11761-10C>G
XM_006723319.1:c.11746-10C>G	XP_006723382.1:n.11746-10C>G
XM_011527204.1:c.11776-10C>G	XP_011525506.1:n.11776-10C>G
XM_011527205.1:c.11779-10C>G	XP_011525507.1:n.11779-10C>G
XM_006723317.2:c.11761-10C>G	XP_006723380.1:n.11761-10C>G
XM_006723319.2:c.11746-10C>G	XP_006723382.1:n.11746-10C>G
XM_011527205.2:c.11779-10C>G	XP_011525507.1:n.11779-10C>G
NM_000540.3:c.11779-10C>G MANE Select	NP_000531.2:n.11779-10C>G
NM_001042723.2:c.11764-10C>G	NP_001036188.1:n.11764-10C>G