Canonical Allele Identifier: CA405687798

Gene: RYR1

Linked Data

• ClinVar Variation Id: 943431
• ClinVar RCV Id: RCV001213615
• dbSNP Id: rs118192181
• gnomAD v4: 19-38580439-C-G
• MyVariant Identifiers: chr19:g.39071079C>G (hg19) ; chr19:g.38580439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580439C>G , CM000681.2:g.38580439C>G	GRCh38
NC_000019.9:g.39071079C>G , CM000681.1:g.39071079C>G	GRCh37
NC_000019.8:g.43762919C>G	NCBI36
NG_008866.1:g.151740C>G , LRG_766:g.151740C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1517C>G
ENST00000688602.1:c.2914C>G
ENST00000689936.1:c.2886C>G
ENST00000359596.8:c.14581C>G MANE Select	ENSP00000352608.2:p.Arg4861Gly
ENST00000355481.8:c.14566C>G	ENSP00000347667.3:p.Arg4856Gly
ENST00000359596.7:c.14581C>G	ENSP00000352608.2:p.Arg4861Gly
ENST00000360985.7:c.14563C>G	ENSP00000354254.4:p.Arg4855Gly
NM_000540.2:c.14581C>G , LRG_766t1:c.14581C>G	NP_000531.2:p.Arg4861Gly
NM_001042723.1:c.14566C>G	NP_001036188.1:p.Arg4856Gly
XM_006723317.1:c.14563C>G	XP_006723380.1:p.Arg4855Gly
XM_006723319.1:c.14548C>G	XP_006723382.1:p.Arg4850Gly
XM_011527204.1:c.14578C>G	XP_011525506.1:p.Arg4860Gly
XM_011527205.1:c.14494C>G	XP_011525507.1:p.Arg4832Gly
XM_006723317.2:c.14563C>G	XP_006723380.1:p.Arg4855Gly
XM_006723319.2:c.14548C>G	XP_006723382.1:p.Arg4850Gly
XM_011527205.2:c.14494C>G	XP_011525507.1:p.Arg4832Gly
NM_000540.3:c.14581C>G MANE Select	NP_000531.2:p.Arg4861Gly
NM_001042723.2:c.14566C>G	NP_001036188.1:p.Arg4856Gly