Canonical Allele Identifier: CA066877

Gene: RYR1

Linked Data

• ClinVar Variation Id: 224382
• ClinVar RCV Id: RCV000209980 ; RCV000241839 ; RCV000314530 ; RCV000362258 ; RCV000400180 ; RCV000766302 ; RCV001082672
• dbSNP Id: rs192863857
• ExAC: 19:38976612 C / T
• gnomAD v2: 19-38976612-C-T
• gnomAD v3: 19-38485972-C-T
• gnomAD v4: 19-38485972-C-T
• COSMIC: COSM1645295
• MyVariant Identifiers: chr19:g.38976612C>T (hg19) ; chr19:g.38485972C>T (hg38)
• ERepo: CA066877/MONDO:0007783/012
• PubMed: PMID:24195946

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38485972C>T , CM000681.2:g.38485972C>T	GRCh38
NC_000019.9:g.38976612C>T , CM000681.1:g.38976612C>T	GRCh37
NC_000019.8:g.43668452C>T	NCBI36
NG_008866.1:g.57273C>T , LRG_766:g.57273C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.5317C>T	ENSP00000471601.2:p.Pro1773Ser
ENST00000359596.8:c.5317C>T MANE Select	ENSP00000352608.2:p.Pro1773Ser
ENST00000355481.8:c.5317C>T	ENSP00000347667.3:p.Pro1773Ser
ENST00000359596.7:c.5317C>T	ENSP00000352608.2:p.Pro1773Ser
ENST00000360985.7:c.5314C>T	ENSP00000354254.4:p.Pro1772Ser
NM_000540.2:c.5317C>T , LRG_766t1:c.5317C>T	NP_000531.2:p.Pro1773Ser
NM_001042723.1:c.5317C>T	NP_001036188.1:p.Pro1773Ser
XM_006723317.1:c.5317C>T	XP_006723380.1:p.Pro1773Ser
XM_006723319.1:c.5317C>T	XP_006723382.1:p.Pro1773Ser
XM_011527204.1:c.5314C>T	XP_011525506.1:p.Pro1772Ser
XM_011527205.1:c.5317C>T	XP_011525507.1:p.Pro1773Ser
XM_006723317.2:c.5317C>T	XP_006723380.1:p.Pro1773Ser
XM_006723319.2:c.5317C>T	XP_006723382.1:p.Pro1773Ser
XM_011527205.2:c.5317C>T	XP_011525507.1:p.Pro1773Ser
XR_001753735.1:n.5400C>T
NM_000540.3:c.5317C>T MANE Select	NP_000531.2:p.Pro1773Ser
NM_001042723.2:c.5317C>T	NP_001036188.1:p.Pro1773Ser