Canonical Allele Identifier: CA060713

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1192890
• ClinVar RCV Id: RCV001555097
• dbSNP Id: rs755747390
• ExAC: 19:39062956 T / G
• gnomAD v2: 19-39062956-T-G
• gnomAD v3: 19-38572316-T-G
• gnomAD v4: 19-38572316-T-G
• MyVariant Identifiers: chr19:g.39062956T>G (hg19) ; chr19:g.38572316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572316T>G , CM000681.2:g.38572316T>G	GRCh38
NC_000019.9:g.39062956T>G , CM000681.1:g.39062956T>G	GRCh37
NC_000019.8:g.43754796T>G	NCBI36
NG_008866.1:g.143617T>G , LRG_766:g.143617T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+46T>G
ENST00000688602.1:c.2331+46T>G
ENST00000689936.1:c.2303+46T>G
ENST00000359596.8:c.13998+46T>G MANE Select	ENSP00000352608.2:n.13998+46T>G
ENST00000355481.8:c.13983+46T>G	ENSP00000347667.3:n.13983+46T>G
ENST00000359596.7:c.13998+46T>G	ENSP00000352608.2:n.13998+46T>G
ENST00000360985.7:c.13980+46T>G	ENSP00000354254.4:n.13980+46T>G
NM_000540.2:c.13998+46T>G , LRG_766t1:c.13998+46T>G	NP_000531.2:n.13998+46T>G
NM_001042723.1:c.13983+46T>G	NP_001036188.1:n.13983+46T>G
XM_006723317.1:c.13980+46T>G	XP_006723380.1:n.13980+46T>G
XM_006723319.1:c.13965+46T>G	XP_006723382.1:n.13965+46T>G
XM_011527204.1:c.13995+46T>G	XP_011525506.1:n.13995+46T>G
XM_011527205.1:c.13911+46T>G	XP_011525507.1:n.13911+46T>G
XM_006723317.2:c.13980+46T>G	XP_006723380.1:n.13980+46T>G
XM_006723319.2:c.13965+46T>G	XP_006723382.1:n.13965+46T>G
XM_011527205.2:c.13911+46T>G	XP_011525507.1:n.13911+46T>G
NM_000540.3:c.13998+46T>G MANE Select	NP_000531.2:n.13998+46T>G
NM_001042723.2:c.13983+46T>G	NP_001036188.1:n.13983+46T>G