Canonical Allele Identifier: CA024223

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65987
• ClinVar RCV Id: RCV000056234 ; RCV000119547
• dbSNP Id: rs118192151
• MyVariant Identifiers: chr19:g.39075614G>C (hg19) ; chr19:g.38584974G>C (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584974G>C , CM000681.2:g.38584974G>C	GRCh38
NC_000019.9:g.39075614G>C , CM000681.1:g.39075614G>C	GRCh37
NC_000019.8:g.43767454G>C	NCBI36
NG_008866.1:g.156275G>C , LRG_766:g.156275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1614G>C
ENST00000688602.1:c.3011G>C
ENST00000689936.1:c.2983G>C
ENST00000692547.1:n.71G>C
ENST00000359596.8:c.14678G>C MANE Select	ENSP00000352608.2:p.Arg4893Pro
ENST00000355481.8:c.14663G>C	ENSP00000347667.3:p.Arg4888Pro
ENST00000359596.7:c.14678G>C	ENSP00000352608.2:p.Arg4893Pro
ENST00000360985.7:c.14660G>C	ENSP00000354254.4:p.Arg4887Pro
NM_000540.2:c.14678G>C , LRG_766t1:c.14678G>C	NP_000531.2:p.Arg4893Pro
NM_001042723.1:c.14663G>C	NP_001036188.1:p.Arg4888Pro
XM_006723317.1:c.14660G>C	XP_006723380.1:p.Arg4887Pro
XM_006723319.1:c.14645G>C	XP_006723382.1:p.Arg4882Pro
XM_011527204.1:c.14675G>C	XP_011525506.1:p.Arg4892Pro
XM_011527205.1:c.14591G>C	XP_011525507.1:p.Arg4864Pro
XM_006723317.2:c.14660G>C	XP_006723380.1:p.Arg4887Pro
XM_006723319.2:c.14645G>C	XP_006723382.1:p.Arg4882Pro
XM_011527205.2:c.14591G>C	XP_011525507.1:p.Arg4864Pro
NM_000540.3:c.14678G>C MANE Select	NP_000531.2:p.Arg4893Pro
NM_001042723.2:c.14663G>C	NP_001036188.1:p.Arg4888Pro