Canonical Allele Identifier: CA066968

Gene: RYR1

Linked Data

• ClinVar Variation Id: 328992
• ClinVar RCV Id: RCV000280476 ; RCV000340557 ; RCV000374886 ; RCV000390244 ; RCV003757168
• dbSNP Id: rs754569485
• ExAC: 19:38934914 G / A
• gnomAD v2: 19-38934914-G-A
• gnomAD v3: 19-38444274-G-A
• gnomAD v4: 19-38444274-G-A
• MyVariant Identifiers: chr19:g.38934914G>A (hg19) ; chr19:g.38444274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38444274G>A , CM000681.2:g.38444274G>A	GRCh38
NC_000019.9:g.38934914G>A , CM000681.1:g.38934914G>A	GRCh37
NC_000019.8:g.43626754G>A	NCBI36
NG_008866.1:g.15575G>A , LRG_766:g.15575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.537+13G>A	ENSP00000471601.2:n.537+13G>A
ENST00000359596.8:c.537+13G>A MANE Select	ENSP00000352608.2:n.537+13G>A
ENST00000355481.8:c.537+13G>A	ENSP00000347667.3:n.537+13G>A
ENST00000359596.7:c.537+13G>A	ENSP00000352608.2:n.537+13G>A
ENST00000360985.7:c.537+13G>A	ENSP00000354254.4:n.537+13G>A
NM_000540.2:c.537+13G>A , LRG_766t1:c.537+13G>A	NP_000531.2:n.537+13G>A
NM_001042723.1:c.537+13G>A	NP_001036188.1:n.537+13G>A
XM_006723317.1:c.537+13G>A	XP_006723380.1:n.537+13G>A
XM_006723319.1:c.537+13G>A	XP_006723382.1:n.537+13G>A
XM_011527204.1:c.537+13G>A	XP_011525506.1:n.537+13G>A
XM_011527205.1:c.537+13G>A	XP_011525507.1:n.537+13G>A
XM_006723317.2:c.537+13G>A	XP_006723380.1:n.537+13G>A
XM_006723319.2:c.537+13G>A	XP_006723382.1:n.537+13G>A
XM_011527205.2:c.537+13G>A	XP_011525507.1:n.537+13G>A
XR_001753735.1:n.620+13G>A
NM_000540.3:c.537+13G>A MANE Select	NP_000531.2:n.537+13G>A
NM_001042723.2:c.537+13G>A	NP_001036188.1:n.537+13G>A