Canonical Allele Identifier: CA067108

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3071717
• ClinVar RCV Id: RCV004016211
• dbSNP Id: rs750141316
• ExAC: 19:38976754 G / A
• gnomAD v2: 19-38976754-G-A
• gnomAD v4: 19-38486114-G-A
• MyVariant Identifiers: chr19:g.38976754G>A (hg19) ; chr19:g.38486114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38486114G>A , CM000681.2:g.38486114G>A	GRCh38
NC_000019.9:g.38976754G>A , CM000681.1:g.38976754G>A	GRCh37
NC_000019.8:g.43668594G>A	NCBI36
NG_008866.1:g.57415G>A , LRG_766:g.57415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.5459G>A	ENSP00000471601.2:p.Arg1820His
ENST00000359596.8:c.5459G>A MANE Select	ENSP00000352608.2:p.Arg1820His
ENST00000355481.8:c.5459G>A	ENSP00000347667.3:p.Arg1820His
ENST00000359596.7:c.5459G>A	ENSP00000352608.2:p.Arg1820His
ENST00000360985.7:c.5456G>A	ENSP00000354254.4:p.Arg1819His
NM_000540.2:c.5459G>A , LRG_766t1:c.5459G>A	NP_000531.2:p.Arg1820His
NM_001042723.1:c.5459G>A	NP_001036188.1:p.Arg1820His
XM_006723317.1:c.5459G>A	XP_006723380.1:p.Arg1820His
XM_006723319.1:c.5459G>A	XP_006723382.1:p.Arg1820His
XM_011527204.1:c.5456G>A	XP_011525506.1:p.Arg1819His
XM_011527205.1:c.5459G>A	XP_011525507.1:p.Arg1820His
XM_006723317.2:c.5459G>A	XP_006723380.1:p.Arg1820His
XM_006723319.2:c.5459G>A	XP_006723382.1:p.Arg1820His
XM_011527205.2:c.5459G>A	XP_011525507.1:p.Arg1820His
XR_001753735.1:n.5542G>A
NM_000540.3:c.5459G>A MANE Select	NP_000531.2:p.Arg1820His
NM_001042723.2:c.5459G>A	NP_001036188.1:p.Arg1820His