Canonical Allele Identifier: CA024221

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65988
• ClinVar RCV Id: RCV000056235 ; RCV000119546 ; RCV001218792 ; RCV001588887
• dbSNP Id: rs118192151
• MyVariant Identifiers: chr19:g.39075614G>A (hg19) ; chr19:g.38584974G>A (hg38)
• PubMed: PMID:16917943 ; PMID:20301565
• ERepo: CA024221/MONDO:0018493/012

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1614G>A
ENST00000688602.1:c.3011G>A
ENST00000689936.1:c.2983G>A
ENST00000692547.1:n.71G>A
ENST00000359596.8:c.14678G>A MANE Select	ENSP00000352608.2:p.Arg4893Gln
ENST00000355481.8:c.14663G>A	ENSP00000347667.3:p.Arg4888Gln
ENST00000359596.7:c.14678G>A	ENSP00000352608.2:p.Arg4893Gln
ENST00000360985.7:c.14660G>A	ENSP00000354254.4:p.Arg4887Gln
NM_000540.2:c.14678G>A , LRG_766t1:c.14678G>A	NP_000531.2:p.Arg4893Gln
NM_001042723.1:c.14663G>A	NP_001036188.1:p.Arg4888Gln
XM_006723317.1:c.14660G>A	XP_006723380.1:p.Arg4887Gln
XM_006723319.1:c.14645G>A	XP_006723382.1:p.Arg4882Gln
XM_011527204.1:c.14675G>A	XP_011525506.1:p.Arg4892Gln
XM_011527205.1:c.14591G>A	XP_011525507.1:p.Arg4864Gln
XM_006723317.2:c.14660G>A	XP_006723380.1:p.Arg4887Gln
XM_006723319.2:c.14645G>A	XP_006723382.1:p.Arg4882Gln
XM_011527205.2:c.14591G>A	XP_011525507.1:p.Arg4864Gln
NM_000540.3:c.14678G>A MANE Select	NP_000531.2:p.Arg4893Gln
NM_001042723.2:c.14663G>A	NP_001036188.1:p.Arg4888Gln