Canonical Allele Identifier: CA059663

Gene: RYR1

Linked Data

• ClinVar Variation Id: 579628
• ClinVar RCV Id: RCV000702965
• dbSNP Id: rs776964609
• ExAC: 19:39056202 G / C
• gnomAD v2: 19-39056202-G-C
• gnomAD v4: 19-38565562-G-C
• MyVariant Identifiers: chr19:g.39056202G>C (hg19) ; chr19:g.38565562G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565562G>C , CM000681.2:g.38565562G>C	GRCh38
NC_000019.9:g.39056202G>C , CM000681.1:g.39056202G>C	GRCh37
NC_000019.8:g.43748042G>C	NCBI36
NG_008866.1:g.136863G>C , LRG_766:g.136863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.164G>C
ENST00000688602.1:c.1638G>C
ENST00000689936.1:c.1620G>C
ENST00000359596.8:c.13228G>C MANE Select	ENSP00000352608.2:p.Glu4410Gln
ENST00000355481.8:c.13213G>C	ENSP00000347667.3:p.Glu4405Gln
ENST00000359596.7:c.13228G>C	ENSP00000352608.2:p.Glu4410Gln
ENST00000360985.7:c.13210G>C	ENSP00000354254.4:p.Glu4404Gln
NM_000540.2:c.13228G>C , LRG_766t1:c.13228G>C	NP_000531.2:p.Glu4410Gln
NM_001042723.1:c.13213G>C	NP_001036188.1:p.Glu4405Gln
XM_006723317.1:c.13210G>C	XP_006723380.1:p.Glu4404Gln
XM_006723319.1:c.13195G>C	XP_006723382.1:p.Glu4399Gln
XM_011527204.1:c.13225G>C	XP_011525506.1:p.Glu4409Gln
XM_011527205.1:c.13228G>C	XP_011525507.1:p.Glu4410Gln
XM_006723317.2:c.13210G>C	XP_006723380.1:p.Glu4404Gln
XM_006723319.2:c.13195G>C	XP_006723382.1:p.Glu4399Gln
XM_011527205.2:c.13228G>C	XP_011525507.1:p.Glu4410Gln
NM_000540.3:c.13228G>C MANE Select	NP_000531.2:p.Glu4410Gln
NM_001042723.2:c.13213G>C	NP_001036188.1:p.Glu4405Gln