Canonical Allele Identifier: CA023926

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133017
• ClinVar RCV Id: RCV000119437 ; RCV001389265 ; RCV001580388 ; RCV004017404
• dbSNP Id: rs148399313
• ExAC: 19:39034005 G / A
• gnomAD v2: 19-39034005-G-A
• gnomAD v3: 19-38543365-G-A
• gnomAD v4: 19-38543365-G-A
• COSMIC: COSM3771047
• MyVariant Identifiers: chr19:g.39034005G>A (hg19) ; chr19:g.38543365G>A (hg38)
• ERepo: CA023926/MONDO:0007783/012
• PubMed: PMID:16917943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543365G>A , CM000681.2:g.38543365G>A	GRCh38
NC_000019.9:g.39034005G>A , CM000681.1:g.39034005G>A	GRCh37
NC_000019.8:g.43725845G>A	NCBI36
NG_008866.1:g.114666G>A , LRG_766:g.114666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.118G>A
ENST00000689936.1:c.100G>A
ENST00000359596.8:c.11708G>A MANE Select	ENSP00000352608.2:p.Arg3903Gln
ENST00000355481.8:c.11693G>A	ENSP00000347667.3:p.Arg3898Gln
ENST00000359596.7:c.11708G>A	ENSP00000352608.2:p.Arg3903Gln
ENST00000360985.7:c.11690G>A	ENSP00000354254.4:p.Arg3897Gln
ENST00000593322.1:c.317G>A
ENST00000594335.5:c.5077G>A
NM_000540.2:c.11708G>A , LRG_766t1:c.11708G>A	NP_000531.2:p.Arg3903Gln
NM_001042723.1:c.11693G>A	NP_001036188.1:p.Arg3898Gln
XM_006723317.1:c.11690G>A	XP_006723380.1:p.Arg3897Gln
XM_006723319.1:c.11675G>A	XP_006723382.1:p.Arg3892Gln
XM_011527204.1:c.11705G>A	XP_011525506.1:p.Arg3902Gln
XM_011527205.1:c.11708G>A	XP_011525507.1:p.Arg3903Gln
XM_006723317.2:c.11690G>A	XP_006723380.1:p.Arg3897Gln
XM_006723319.2:c.11675G>A	XP_006723382.1:p.Arg3892Gln
XM_011527205.2:c.11708G>A	XP_011525507.1:p.Arg3903Gln
NM_000540.3:c.11708G>A MANE Select	NP_000531.2:p.Arg3903Gln
NM_001042723.2:c.11693G>A	NP_001036188.1:p.Arg3898Gln