Canonical Allele Identifier: CA024174

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65969
• ClinVar RCV Id: RCV000056216 ; RCV000119529
• dbSNP Id: rs118192144
• MyVariant Identifiers: chr19:g.39071070A>G (hg19) ; chr19:g.38580430A>G (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580430A>G , CM000681.2:g.38580430A>G	GRCh38
NC_000019.9:g.39071070A>G , CM000681.1:g.39071070A>G	GRCh37
NC_000019.8:g.43762910A>G	NCBI36
NG_008866.1:g.151731A>G , LRG_766:g.151731A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1508A>G
ENST00000688602.1:c.2905A>G
ENST00000689936.1:c.2877A>G
ENST00000359596.8:c.14572A>G MANE Select	ENSP00000352608.2:p.Asn4858Asp
ENST00000355481.8:c.14557A>G	ENSP00000347667.3:p.Asn4853Asp
ENST00000359596.7:c.14572A>G	ENSP00000352608.2:p.Asn4858Asp
ENST00000360985.7:c.14554A>G	ENSP00000354254.4:p.Asn4852Asp
NM_000540.2:c.14572A>G , LRG_766t1:c.14572A>G	NP_000531.2:p.Asn4858Asp
NM_001042723.1:c.14557A>G	NP_001036188.1:p.Asn4853Asp
XM_006723317.1:c.14554A>G	XP_006723380.1:p.Asn4852Asp
XM_006723319.1:c.14539A>G	XP_006723382.1:p.Asn4847Asp
XM_011527204.1:c.14569A>G	XP_011525506.1:p.Asn4857Asp
XM_011527205.1:c.14485A>G	XP_011525507.1:p.Asn4829Asp
XM_006723317.2:c.14554A>G	XP_006723380.1:p.Asn4852Asp
XM_006723319.2:c.14539A>G	XP_006723382.1:p.Asn4847Asp
XM_011527205.2:c.14485A>G	XP_011525507.1:p.Asn4829Asp
NM_000540.3:c.14572A>G MANE Select	NP_000531.2:p.Asn4858Asp
NM_001042723.2:c.14557A>G	NP_001036188.1:p.Asn4853Asp