Canonical Allele Identifier: CA055593

Gene: RYR1

Linked Data

• ClinVar Variation Id: 513560
• ClinVar RCV Id: RCV000611618 ; RCV001135774 ; RCV001135776 ; RCV001135775 ; RCV002064178
• dbSNP Id: rs552725260
• ExAC: 19:39019350 G / A
• gnomAD v2: 19-39019350-G-A
• gnomAD v3: 19-38528710-G-A
• gnomAD v4: 19-38528710-G-A
• MyVariant Identifiers: chr19:g.39019350G>A (hg19) ; chr19:g.38528710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528710G>A , CM000681.2:g.38528710G>A	GRCh38
NC_000019.9:g.39019350G>A , CM000681.1:g.39019350G>A	GRCh37
NC_000019.8:g.43711190G>A	NCBI36
NG_008866.1:g.100011G>A , LRG_766:g.100011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.10973+15G>A	ENSP00000471601.2:n.10973+15G>A
ENST00000359596.8:c.11034+15G>A MANE Select	ENSP00000352608.2:n.11034+15G>A
ENST00000355481.8:c.11019+15G>A	ENSP00000347667.3:n.11019+15G>A
ENST00000359596.7:c.11034+15G>A	ENSP00000352608.2:n.11034+15G>A
ENST00000360985.7:c.11016+15G>A	ENSP00000354254.4:n.11016+15G>A
ENST00000594335.5:c.4421+15G>A
ENST00000599547.5:c.1841+15G>A
ENST00000601514.5:c.315+15G>A	ENSP00000472497.1:n.315+15G>A
NM_000540.2:c.11034+15G>A , LRG_766t1:c.11034+15G>A	NP_000531.2:n.11034+15G>A
NM_001042723.1:c.11019+15G>A	NP_001036188.1:n.11019+15G>A
XM_006723317.1:c.11034+15G>A	XP_006723380.1:n.11034+15G>A
XM_006723319.1:c.11019+15G>A	XP_006723382.1:n.11019+15G>A
XM_011527204.1:c.11031+15G>A	XP_011525506.1:n.11031+15G>A
XM_011527205.1:c.11034+15G>A	XP_011525507.1:n.11034+15G>A
XM_006723317.2:c.11034+15G>A	XP_006723380.1:n.11034+15G>A
XM_006723319.2:c.11019+15G>A	XP_006723382.1:n.11019+15G>A
XM_011527205.2:c.11034+15G>A	XP_011525507.1:n.11034+15G>A
NM_000540.3:c.11034+15G>A MANE Select	NP_000531.2:n.11034+15G>A
NM_001042723.2:c.11019+15G>A	NP_001036188.1:n.11019+15G>A