Canonical Allele Identifier: CA024086

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133053
• ClinVar RCV Id: RCV000119491 ; RCV000454682 ; RCV000525051 ; RCV001129438 ; RCV000990210 ; RCV001129439 ; RCV001449978
• dbSNP Id: rs193922860
• ExAC: 19:39062846 G / A
• gnomAD v2: 19-39062846-G-A
• gnomAD v3: 19-38572206-G-A
• gnomAD v4: 19-38572206-G-A
• COSMIC: COSM258580
• MyVariant Identifiers: chr19:g.39062846G>A (hg19) ; chr19:g.38572206G>A (hg38)
• ERepo: CA024086/MONDO:0018493/012
• PubMed: PMID:16732084 ; PMID:16917943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572206G>A , CM000681.2:g.38572206G>A	GRCh38
NC_000019.9:g.39062846G>A , CM000681.1:g.39062846G>A	GRCh37
NC_000019.8:g.43754686G>A	NCBI36
NG_008866.1:g.143507G>A , LRG_766:g.143507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.870G>A
ENST00000688602.1:c.2267G>A
ENST00000689936.1:c.2239G>A
ENST00000359596.8:c.13934G>A MANE Select	ENSP00000352608.2:p.Arg4645Gln
ENST00000355481.8:c.13919G>A	ENSP00000347667.3:p.Arg4640Gln
ENST00000359596.7:c.13934G>A	ENSP00000352608.2:p.Arg4645Gln
ENST00000360985.7:c.13916G>A	ENSP00000354254.4:p.Arg4639Gln
ENST00000593677.1:c.394G>A
NM_000540.2:c.13934G>A , LRG_766t1:c.13934G>A	NP_000531.2:p.Arg4645Gln
NM_001042723.1:c.13919G>A	NP_001036188.1:p.Arg4640Gln
XM_006723317.1:c.13916G>A	XP_006723380.1:p.Arg4639Gln
XM_006723319.1:c.13901G>A	XP_006723382.1:p.Arg4634Gln
XM_011527204.1:c.13931G>A	XP_011525506.1:p.Arg4644Gln
XM_011527205.1:c.13847G>A	XP_011525507.1:p.Arg4616Gln
XM_006723317.2:c.13916G>A	XP_006723380.1:p.Arg4639Gln
XM_006723319.2:c.13901G>A	XP_006723382.1:p.Arg4634Gln
XM_011527205.2:c.13847G>A	XP_011525507.1:p.Arg4616Gln
NM_000540.3:c.13934G>A MANE Select	NP_000531.2:p.Arg4645Gln
NM_001042723.2:c.13919G>A	NP_001036188.1:p.Arg4640Gln