Canonical Allele Identifier: CA2825002804

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3073504
• ClinVar RCV Id: RCV004016510

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586194G>A , CM000681.2:g.38586194G>A	GRCh38
NC_000019.9:g.39076834G>A , CM000681.1:g.39076834G>A	GRCh37
NC_000019.8:g.43768674G>A	NCBI36
NG_008866.1:g.157495G>A , LRG_766:g.157495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1905+3G>A
ENST00000688602.1:c.3302+3G>A
ENST00000689936.1:c.3274+3G>A
ENST00000692547.1:n.362+3G>A
ENST00000359596.8:c.14969+3G>A MANE Select	ENSP00000352608.2:n.14969+3G>A
ENST00000355481.8:c.14954+3G>A	ENSP00000347667.3:n.14954+3G>A
ENST00000359596.7:c.14969+3G>A	ENSP00000352608.2:n.14969+3G>A
ENST00000360985.7:c.14951+3G>A	ENSP00000354254.4:n.14951+3G>A
NM_000540.2:c.14969+3G>A , LRG_766t1:c.14969+3G>A	NP_000531.2:n.14969+3G>A
NM_001042723.1:c.14954+3G>A	NP_001036188.1:n.14954+3G>A
XM_006723317.1:c.14951+3G>A	XP_006723380.1:n.14951+3G>A
XM_006723319.1:c.14936+3G>A	XP_006723382.1:n.14936+3G>A
XM_011527204.1:c.14966+3G>A	XP_011525506.1:n.14966+3G>A
XM_011527205.1:c.14882+3G>A	XP_011525507.1:n.14882+3G>A
XM_006723317.2:c.14951+3G>A	XP_006723380.1:n.14951+3G>A
XM_006723319.2:c.14936+3G>A	XP_006723382.1:n.14936+3G>A
XM_011527205.2:c.14882+3G>A	XP_011525507.1:n.14882+3G>A
NM_000540.3:c.14969+3G>A MANE Select	NP_000531.2:n.14969+3G>A
NM_001042723.2:c.14954+3G>A	NP_001036188.1:n.14954+3G>A