Canonical Allele Identifier: CA072049

Gene: RYR1

Linked Data

• ClinVar Variation Id: 523076
• ClinVar RCV Id: RCV000626286 ; RCV003133414 ; RCV002529788
• dbSNP Id: rs775492883
• ExAC: 19:38996491 A / G
• gnomAD v2: 19-38996491-A-G
• gnomAD v4: 19-38505851-A-G
• MyVariant Identifiers: chr19:g.38996491A>G (hg19) ; chr19:g.38505851A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38505851A>G , CM000681.2:g.38505851A>G	GRCh38
NC_000019.9:g.38996491A>G , CM000681.1:g.38996491A>G	GRCh37
NC_000019.8:g.43688331A>G	NCBI36
NG_008866.1:g.77152A>G , LRG_766:g.77152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.8446A>G	ENSP00000471601.2:p.Met2816Val
ENST00000359596.8:c.8446A>G MANE Select	ENSP00000352608.2:p.Met2816Val
ENST00000355481.8:c.8446A>G	ENSP00000347667.3:p.Met2816Val
ENST00000359596.7:c.8446A>G	ENSP00000352608.2:p.Met2816Val
ENST00000360985.7:c.8443A>G	ENSP00000354254.4:p.Met2815Val
ENST00000594335.5:c.1898A>G
NM_000540.2:c.8446A>G , LRG_766t1:c.8446A>G	NP_000531.2:p.Met2816Val
NM_001042723.1:c.8446A>G	NP_001036188.1:p.Met2816Val
XM_006723317.1:c.8446A>G	XP_006723380.1:p.Met2816Val
XM_006723319.1:c.8446A>G	XP_006723382.1:p.Met2816Val
XM_011527204.1:c.8443A>G	XP_011525506.1:p.Met2815Val
XM_011527205.1:c.8446A>G	XP_011525507.1:p.Met2816Val
XM_006723317.2:c.8446A>G	XP_006723380.1:p.Met2816Val
XM_006723319.2:c.8446A>G	XP_006723382.1:p.Met2816Val
XM_011527205.2:c.8446A>G	XP_011525507.1:p.Met2816Val
XR_001753735.1:n.8529A>G
NM_000540.3:c.8446A>G MANE Select	NP_000531.2:p.Met2816Val
NM_001042723.2:c.8446A>G	NP_001036188.1:p.Met2816Val