Canonical Allele Identifier: CA023822

Gene: RYR1

Linked Data

• ClinVar Variation Id: 42098
• ClinVar RCV Id: RCV000034925 ; RCV000147397 ; RCV000233916 ; RCV000401146 ; RCV000529599 ; RCV003996181
• dbSNP Id: rs367543058
• ExAC: 19:39010039 T / G
• gnomAD v2: 19-39010039-T-G
• gnomAD v3: 19-38519399-T-G
• gnomAD v4: 19-38519399-T-G
• MyVariant Identifiers: chr19:g.39010039T>G (hg19) ; chr19:g.38519399T>G (hg38)
• PubMed: PMID:20301436 ; PMID:20583297 ; PMID:27854218

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38519399T>G , CM000681.2:g.38519399T>G	GRCh38
NC_000019.9:g.39010039T>G , CM000681.1:g.39010039T>G	GRCh37
NC_000019.8:g.43701879T>G	NCBI36
NG_008866.1:g.90700T>G , LRG_766:g.90700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.10143T>G	ENSP00000471601.2:n.10143T>G
ENST00000359596.8:c.10204T>G MANE Select	ENSP00000352608.2:p.Cys3402Gly
ENST00000355481.8:c.10204T>G	ENSP00000347667.3:p.Cys3402Gly
ENST00000359596.7:c.10204T>G	ENSP00000352608.2:p.Cys3402Gly
ENST00000360985.7:c.10201T>G	ENSP00000354254.4:p.Cys3401Gly
ENST00000594335.5:c.3606T>G
ENST00000599547.5:c.1011T>G
NM_000540.2:c.10204T>G , LRG_766t1:c.10204T>G	NP_000531.2:p.Cys3402Gly
NM_001042723.1:c.10204T>G	NP_001036188.1:p.Cys3402Gly
XM_006723317.1:c.10204T>G	XP_006723380.1:p.Cys3402Gly
XM_006723319.1:c.10204T>G	XP_006723382.1:p.Cys3402Gly
XM_011527204.1:c.10201T>G	XP_011525506.1:p.Cys3401Gly
XM_011527205.1:c.10204T>G	XP_011525507.1:p.Cys3402Gly
XM_006723317.2:c.10204T>G	XP_006723380.1:p.Cys3402Gly
XM_006723319.2:c.10204T>G	XP_006723382.1:p.Cys3402Gly
XM_011527205.2:c.10204T>G	XP_011525507.1:p.Cys3402Gly
NM_000540.3:c.10204T>G MANE Select	NP_000531.2:p.Cys3402Gly
NM_001042723.2:c.10204T>G	NP_001036188.1:p.Cys3402Gly