Canonical Allele Identifier: CA074227

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1303276
• ClinVar RCV Id: RCV001757831 ; RCV001803394 ; RCV001882824 ; RCV004008983
• dbSNP Id: rs757753317
• ExAC: 19:39008161 G / A
• gnomAD v2: 19-39008161-G-A
• gnomAD v3: 19-38517521-G-A
• gnomAD v4: 19-38517521-G-A
• MyVariant Identifiers: chr19:g.39008161G>A (hg19) ; chr19:g.38517521G>A (hg38)
• ERepo: CA074227/MONDO:0018493/012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517521G>A , CM000681.2:g.38517521G>A	GRCh38
NC_000019.9:g.39008161G>A , CM000681.1:g.39008161G>A	GRCh37
NC_000019.8:g.43700001G>A	NCBI36
NG_008866.1:g.88822G>A , LRG_766:g.88822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9787G>A	ENSP00000471601.2:n.9787G>A
ENST00000359596.8:c.9848G>A MANE Select	ENSP00000352608.2:p.Arg3283Gln
ENST00000355481.8:c.9848G>A	ENSP00000347667.3:p.Arg3283Gln
ENST00000359596.7:c.9848G>A	ENSP00000352608.2:p.Arg3283Gln
ENST00000360985.7:c.9845G>A	ENSP00000354254.4:p.Arg3282Gln
ENST00000594335.5:c.3250G>A
ENST00000599547.5:c.655G>A
NM_000540.2:c.9848G>A , LRG_766t1:c.9848G>A	NP_000531.2:p.Arg3283Gln
NM_001042723.1:c.9848G>A	NP_001036188.1:p.Arg3283Gln
XM_006723317.1:c.9848G>A	XP_006723380.1:p.Arg3283Gln
XM_006723319.1:c.9848G>A	XP_006723382.1:p.Arg3283Gln
XM_011527204.1:c.9845G>A	XP_011525506.1:p.Arg3282Gln
XM_011527205.1:c.9848G>A	XP_011525507.1:p.Arg3283Gln
XM_006723317.2:c.9848G>A	XP_006723380.1:p.Arg3283Gln
XM_006723319.2:c.9848G>A	XP_006723382.1:p.Arg3283Gln
XM_011527205.2:c.9848G>A	XP_011525507.1:p.Arg3283Gln
NM_000540.3:c.9848G>A MANE Select	NP_000531.2:p.Arg3283Gln
NM_001042723.2:c.9848G>A	NP_001036188.1:p.Arg3283Gln