Canonical Allele Identifier: CA882063013

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2729372
• ClinVar RCV Id: RCV003593151
• dbSNP Id: rs1433316639
• gnomAD v3: 19-38573158-GCCT-G
• gnomAD v4: 19-38573158-GCCT-G
• MyVariant Identifiers: chr19:g.39063799_39063801del (hg19) ; chr19:g.38573159_38573161del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573164_38573166del , CM000681.2:g.38573164_38573166del	GRCh38
NC_000019.9:g.39063804_39063806del , CM000681.1:g.39063804_39063806del	GRCh37
NC_000019.8:g.43755644_43755646del	NCBI36
NG_008866.1:g.144465_144467del , LRG_766:g.144465_144467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.935-13_935-11del
ENST00000688602.1:c.2332-13_2332-11del
ENST00000689936.1:c.2304-13_2304-11del
ENST00000359596.8:c.13999-13_13999-11del MANE Select	ENSP00000352608.2:n.13999-13_13999-11del
ENST00000355481.8:c.13984-13_13984-11del	ENSP00000347667.3:n.13984-13_13984-11del
ENST00000359596.7:c.13999-13_13999-11del	ENSP00000352608.2:n.13999-13_13999-11del
ENST00000360985.7:c.13981-13_13981-11del	ENSP00000354254.4:n.13981-13_13981-11del
NM_000540.2:c.13999-13_13999-11del , LRG_766t1:c.13999-13_13999-11del	NP_000531.2:n.13999-13_13999-11del
NM_001042723.1:c.13984-13_13984-11del	NP_001036188.1:n.13984-13_13984-11del
XM_006723317.1:c.13981-13_13981-11del	XP_006723380.1:n.13981-13_13981-11del
XM_006723319.1:c.13966-13_13966-11del	XP_006723382.1:n.13966-13_13966-11del
XM_011527204.1:c.13996-13_13996-11del	XP_011525506.1:n.13996-13_13996-11del
XM_011527205.1:c.13912-13_13912-11del	XP_011525507.1:n.13912-13_13912-11del
XM_006723317.2:c.13981-13_13981-11del	XP_006723380.1:n.13981-13_13981-11del
XM_006723319.2:c.13966-13_13966-11del	XP_006723382.1:n.13966-13_13966-11del
XM_011527205.2:c.13912-13_13912-11del	XP_011525507.1:n.13912-13_13912-11del
NM_000540.3:c.13999-13_13999-11del MANE Select	NP_000531.2:n.13999-13_13999-11del
NM_001042723.2:c.13984-13_13984-11del	NP_001036188.1:n.13984-13_13984-11del