Canonical Allele Identifier: CA2739276784

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2845065
• ClinVar RCV Id: RCV003757694

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572010C>G , CM000681.2:g.38572010C>G	GRCh38
NC_000019.9:g.39062650C>G , CM000681.1:g.39062650C>G	GRCh37
NC_000019.8:g.43754490C>G	NCBI36
NG_008866.1:g.143311C>G , LRG_766:g.143311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.683-9C>G
ENST00000688602.1:c.2080-9C>G
ENST00000689936.1:c.2052-9C>G
ENST00000359596.8:c.13747-9C>G MANE Select	ENSP00000352608.2:n.13747-9C>G
ENST00000355481.8:c.13732-9C>G	ENSP00000347667.3:n.13732-9C>G
ENST00000359596.7:c.13747-9C>G	ENSP00000352608.2:n.13747-9C>G
ENST00000360985.7:c.13729-9C>G	ENSP00000354254.4:n.13729-9C>G
ENST00000593677.1:c.207-9C>G
NM_000540.2:c.13747-9C>G , LRG_766t1:c.13747-9C>G	NP_000531.2:n.13747-9C>G
NM_001042723.1:c.13732-9C>G	NP_001036188.1:n.13732-9C>G
XM_006723317.1:c.13729-9C>G	XP_006723380.1:n.13729-9C>G
XM_006723319.1:c.13714-9C>G	XP_006723382.1:n.13714-9C>G
XM_011527204.1:c.13744-9C>G	XP_011525506.1:n.13744-9C>G
XM_011527205.1:c.13660-9C>G	XP_011525507.1:n.13660-9C>G
XM_006723317.2:c.13729-9C>G	XP_006723380.1:n.13729-9C>G
XM_006723319.2:c.13714-9C>G	XP_006723382.1:n.13714-9C>G
XM_011527205.2:c.13660-9C>G	XP_011525507.1:n.13660-9C>G
NM_000540.3:c.13747-9C>G MANE Select	NP_000531.2:n.13747-9C>G
NM_001042723.2:c.13732-9C>G	NP_001036188.1:n.13732-9C>G