Canonical Allele Identifier: CA10651817

Gene: RYR1

Linked Data

• ClinVar Variation Id: 328989
• ClinVar RCV Id: RCV000264121 ; RCV000269961 ; RCV000323934 ; RCV000359948 ; RCV002502266
• dbSNP Id: rs886054377
• gnomAD v2: 19-38924401-T-G
• gnomAD v3: 19-38433761-T-G
• gnomAD v4: 19-38433761-T-G
• MyVariant Identifiers: chr19:g.38924401T>G (hg19) ; chr19:g.38433761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38433761T>G , CM000681.2:g.38433761T>G	GRCh38
NC_000019.9:g.38924401T>G , CM000681.1:g.38924401T>G	GRCh37
NC_000019.8:g.43616241T>G	NCBI36
NG_008866.1:g.5062T>G , LRG_766:g.5062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359596.8:c.-69T>G MANE Select	ENSP00000352608.2:n.-69T>G
ENST00000355481.8:c.-69T>G	ENSP00000347667.3:n.-69T>G
ENST00000360985.7:c.-69T>G	ENSP00000354254.4:n.-69T>G
NM_000540.2:c.-69T>G , LRG_766t1:c.-69T>G	NP_000531.2:n.-69T>G
NM_001042723.1:c.-69T>G	NP_001036188.1:n.-69T>G
XM_006723317.2:c.-69T>G	XP_006723380.1:n.-69T>G
XM_006723319.2:c.-69T>G	XP_006723382.1:n.-69T>G
XM_011527205.2:c.-69T>G	XP_011525507.1:n.-69T>G
XR_001753735.1:n.15T>G
NM_000540.3:c.-69T>G MANE Select	NP_000531.2:n.-69T>G
NM_001042723.2:c.-69T>G	NP_001036188.1:n.-69T>G