Canonical Allele Identifier: CA2580097261

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1971542
• ClinVar RCV Id: RCV002750079
• gnomAD v4: 19-38586087-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586087A>G , CM000681.2:g.38586087A>G	GRCh38
NC_000019.9:g.39076727A>G , CM000681.1:g.39076727A>G	GRCh37
NC_000019.8:g.43768567A>G	NCBI36
NG_008866.1:g.157388A>G , LRG_766:g.157388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1805-4A>G
ENST00000688602.1:c.3202-4A>G
ENST00000689936.1:c.3174-4A>G
ENST00000692547.1:n.262-4A>G
ENST00000359596.8:c.14869-4A>G MANE Select	ENSP00000352608.2:n.14869-4A>G
ENST00000355481.8:c.14854-4A>G	ENSP00000347667.3:n.14854-4A>G
ENST00000359596.7:c.14869-4A>G	ENSP00000352608.2:n.14869-4A>G
ENST00000360985.7:c.14851-4A>G	ENSP00000354254.4:n.14851-4A>G
NM_000540.2:c.14869-4A>G , LRG_766t1:c.14869-4A>G	NP_000531.2:n.14869-4A>G
NM_001042723.1:c.14854-4A>G	NP_001036188.1:n.14854-4A>G
XM_006723317.1:c.14851-4A>G	XP_006723380.1:n.14851-4A>G
XM_006723319.1:c.14836-4A>G	XP_006723382.1:n.14836-4A>G
XM_011527204.1:c.14866-4A>G	XP_011525506.1:n.14866-4A>G
XM_011527205.1:c.14782-4A>G	XP_011525507.1:n.14782-4A>G
XM_006723317.2:c.14851-4A>G	XP_006723380.1:n.14851-4A>G
XM_006723319.2:c.14836-4A>G	XP_006723382.1:n.14836-4A>G
XM_011527205.2:c.14782-4A>G	XP_011525507.1:n.14782-4A>G
NM_000540.3:c.14869-4A>G MANE Select	NP_000531.2:n.14869-4A>G
NM_001042723.2:c.14854-4A>G	NP_001036188.1:n.14854-4A>G