Canonical Allele Identifier: CA024242

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65990
• ClinVar RCV Id: RCV000056237 ; RCV000119556
• dbSNP Id: rs118192184
• MyVariant Identifiers: chr19:g.39075676A>G (hg19) ; chr19:g.38585036A>G (hg38)
• PubMed: PMID:11709545 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585036A>G , CM000681.2:g.38585036A>G	GRCh38
NC_000019.9:g.39075676A>G , CM000681.1:g.39075676A>G	GRCh37
NC_000019.8:g.43767516A>G	NCBI36
NG_008866.1:g.156337A>G , LRG_766:g.156337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1676A>G
ENST00000688602.1:c.3073A>G
ENST00000689936.1:c.3045A>G
ENST00000692547.1:n.133A>G
ENST00000359596.8:c.14740A>G MANE Select	ENSP00000352608.2:p.Arg4914Gly
ENST00000355481.8:c.14725A>G	ENSP00000347667.3:p.Arg4909Gly
ENST00000359596.7:c.14740A>G	ENSP00000352608.2:p.Arg4914Gly
ENST00000360985.7:c.14722A>G	ENSP00000354254.4:p.Arg4908Gly
NM_000540.2:c.14740A>G , LRG_766t1:c.14740A>G	NP_000531.2:p.Arg4914Gly
NM_001042723.1:c.14725A>G	NP_001036188.1:p.Arg4909Gly
XM_006723317.1:c.14722A>G	XP_006723380.1:p.Arg4908Gly
XM_006723319.1:c.14707A>G	XP_006723382.1:p.Arg4903Gly
XM_011527204.1:c.14737A>G	XP_011525506.1:p.Arg4913Gly
XM_011527205.1:c.14653A>G	XP_011525507.1:p.Arg4885Gly
XM_006723317.2:c.14722A>G	XP_006723380.1:p.Arg4908Gly
XM_006723319.2:c.14707A>G	XP_006723382.1:p.Arg4903Gly
XM_011527205.2:c.14653A>G	XP_011525507.1:p.Arg4885Gly
NM_000540.3:c.14740A>G MANE Select	NP_000531.2:p.Arg4914Gly
NM_001042723.2:c.14725A>G	NP_001036188.1:p.Arg4909Gly