Canonical Allele Identifier: CA073621

Gene: RYR1

Linked Data

• ClinVar Variation Id: 451330
• ClinVar RCV Id: RCV000522844 ; RCV001266974 ; RCV001858000 ; RCV002506276 ; RCV004003622
• dbSNP Id: rs776697656
• ExAC: 19:39003124 G / A
• gnomAD v2: 19-39003124-G-A
• gnomAD v3: 19-38512484-G-A
• gnomAD v4: 19-38512484-G-A
• MyVariant Identifiers: chr19:g.39003124G>A (hg19) ; chr19:g.38512484G>A (hg38)
• ERepo: CA073621/MONDO:0100150/179

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512484G>A , CM000681.2:g.38512484G>A	GRCh38
NC_000019.9:g.39003124G>A , CM000681.1:g.39003124G>A	GRCh37
NC_000019.8:g.43694964G>A	NCBI36
NG_008866.1:g.83785G>A , LRG_766:g.83785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9411+1G>A	ENSP00000471601.2:n.9411+1G>A
ENST00000359596.8:c.9472+1G>A MANE Select	ENSP00000352608.2:n.9472+1G>A
ENST00000355481.8:c.9472+1G>A	ENSP00000347667.3:n.9472+1G>A
ENST00000359596.7:c.9472+1G>A	ENSP00000352608.2:n.9472+1G>A
ENST00000360985.7:c.9469+1G>A	ENSP00000354254.4:n.9469+1G>A
ENST00000594335.5:c.2874+1G>A
ENST00000599547.5:c.279+1G>A
NM_000540.2:c.9472+1G>A , LRG_766t1:c.9472+1G>A	NP_000531.2:n.9472+1G>A
NM_001042723.1:c.9472+1G>A	NP_001036188.1:n.9472+1G>A
XM_006723317.1:c.9472+1G>A	XP_006723380.1:n.9472+1G>A
XM_006723319.1:c.9472+1G>A	XP_006723382.1:n.9472+1G>A
XM_011527204.1:c.9469+1G>A	XP_011525506.1:n.9469+1G>A
XM_011527205.1:c.9472+1G>A	XP_011525507.1:n.9472+1G>A
XM_006723317.2:c.9472+1G>A	XP_006723380.1:n.9472+1G>A
XM_006723319.2:c.9472+1G>A	XP_006723382.1:n.9472+1G>A
XM_011527205.2:c.9472+1G>A	XP_011525507.1:n.9472+1G>A
XR_001753735.1:n.9505+1G>A
NM_000540.3:c.9472+1G>A MANE Select	NP_000531.2:n.9472+1G>A
NM_001042723.2:c.9472+1G>A	NP_001036188.1:n.9472+1G>A