Canonical Allele Identifier: CA024651

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133172
• ClinVar RCV Id: RCV000119670 ; RCV000185536 ; RCV000502398 ; RCV000691232 ; RCV002492409 ; RCV003323407
• dbSNP Id: rs193922797
• ExAC: 19:38987541 G / A
• gnomAD v2: 19-38987541-G-A
• gnomAD v3: 19-38496901-G-A
• gnomAD v4: 19-38496901-G-A
• MyVariant Identifiers: chr19:g.38987541G>A (hg19) ; chr19:g.38496901G>A (hg38)
• ERepo: CA024651/MONDO:0007783/012
• PubMed: PMID:12208234 ; PMID:16835904

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496901G>A , CM000681.2:g.38496901G>A	GRCh38
NC_000019.9:g.38987541G>A , CM000681.1:g.38987541G>A	GRCh37
NC_000019.8:g.43679381G>A	NCBI36
NG_008866.1:g.68202G>A , LRG_766:g.68202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6838G>A	ENSP00000471601.2:p.Val2280Ile
ENST00000359596.8:c.6838G>A MANE Select	ENSP00000352608.2:p.Val2280Ile
ENST00000355481.8:c.6838G>A	ENSP00000347667.3:p.Val2280Ile
ENST00000359596.7:c.6838G>A	ENSP00000352608.2:p.Val2280Ile
ENST00000360985.7:c.6835G>A	ENSP00000354254.4:p.Val2279Ile
ENST00000594335.5:c.290G>A
NM_000540.2:c.6838G>A , LRG_766t1:c.6838G>A	NP_000531.2:p.Val2280Ile
NM_001042723.1:c.6838G>A	NP_001036188.1:p.Val2280Ile
XM_006723317.1:c.6838G>A	XP_006723380.1:p.Val2280Ile
XM_006723319.1:c.6838G>A	XP_006723382.1:p.Val2280Ile
XM_011527204.1:c.6835G>A	XP_011525506.1:p.Val2279Ile
XM_011527205.1:c.6838G>A	XP_011525507.1:p.Val2280Ile
XM_006723317.2:c.6838G>A	XP_006723380.1:p.Val2280Ile
XM_006723319.2:c.6838G>A	XP_006723382.1:p.Val2280Ile
XM_011527205.2:c.6838G>A	XP_011525507.1:p.Val2280Ile
XR_001753735.1:n.6921G>A
NM_000540.3:c.6838G>A MANE Select	NP_000531.2:p.Val2280Ile
NM_001042723.2:c.6838G>A	NP_001036188.1:p.Val2280Ile