Canonical Allele Identifier: CA024311

Gene: RYR1

Linked Data

• ClinVar Variation Id: 12964
• ClinVar RCV Id: RCV000013830 ; RCV000119586 ; RCV000538121 ; RCV000624176 ; RCV000608635 ; RCV001787389 ; RCV001787394 ; RCV001787390 ; RCV001787391 ; RCV001787392 ; RCV001787393 ; RCV001787388 ; RCV002496349
• dbSNP Id: rs118192172
• ExAC: 19:38948185 C / T
• gnomAD v2: 19-38948185-C-T
• gnomAD v3: 19-38457545-C-T
• gnomAD v4: 19-38457545-C-T
• MyVariant Identifiers: chr19:g.38948185C>T (hg19) ; chr19:g.38457545C>T (hg38)
• ERepo: CA024311/MONDO:0007783/012
• PubMed: PMID:1329581 ; PMID:1639409 ; PMID:1774073 ; PMID:1774074 ; PMID:1862346 ; PMID:4149045 ; PMID:7511586 ; PMID:7586638 ; PMID:7762556 ; PMID:7889656 ; PMID:8401544 ; PMID:8661021 ; PMID:8828983 ; PMID:9199552 ; PMID:9873004 ; PMID:10484775 ; PMID:12732639 ; PMID:16163667 ; PMID:16380615 ; PMID:16917943 ; PMID:18765655 ; PMID:20583297 ; PMID:20839240 ; PMID:23394784 ; PMID:23553484 ; PMID:23919265 ; PMID:24195946 ; PMID:24433488

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457545C>T , CM000681.2:g.38457545C>T	GRCh38
NC_000019.9:g.38948185C>T , CM000681.1:g.38948185C>T	GRCh37
NC_000019.8:g.43640025C>T	NCBI36
NG_008866.1:g.28846C>T , LRG_766:g.28846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1840C>T	ENSP00000471601.2:p.Arg614Cys
ENST00000359596.8:c.1840C>T MANE Select	ENSP00000352608.2:p.Arg614Cys
ENST00000355481.8:c.1840C>T	ENSP00000347667.3:p.Arg614Cys
ENST00000359596.7:c.1840C>T	ENSP00000352608.2:p.Arg614Cys
ENST00000360985.7:c.1840C>T	ENSP00000354254.4:p.Arg614Cys
NM_000540.2:c.1840C>T , LRG_766t1:c.1840C>T	NP_000531.2:p.Arg614Cys
NM_001042723.1:c.1840C>T	NP_001036188.1:p.Arg614Cys
XM_006723317.1:c.1840C>T	XP_006723380.1:p.Arg614Cys
XM_006723319.1:c.1840C>T	XP_006723382.1:p.Arg614Cys
XM_011527204.1:c.1837C>T	XP_011525506.1:p.Arg613Cys
XM_011527205.1:c.1840C>T	XP_011525507.1:p.Arg614Cys
XM_006723317.2:c.1840C>T	XP_006723380.1:p.Arg614Cys
XM_006723319.2:c.1840C>T	XP_006723382.1:p.Arg614Cys
XM_011527205.2:c.1840C>T	XP_011525507.1:p.Arg614Cys
XR_001753735.1:n.1923C>T
NM_000540.3:c.1840C>T MANE Select	NP_000531.2:p.Arg614Cys
NM_001042723.2:c.1840C>T	NP_001036188.1:p.Arg614Cys