Canonical Allele Identifier: CA061733

Gene: RYR1

Linked Data

• dbSNP Id: rs781495563
• ExAC: 19:39076684 CA / C
• gnomAD v2: 19-39076684-CA-C
• gnomAD v4: 19-38586044-CA-C
• MyVariant Identifiers: chr19:g.39076685del (hg19) ; chr19:g.38586045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586045del , CM000681.2:g.38586045del	GRCh38
NC_000019.9:g.39076685del , CM000681.1:g.39076685del	GRCh37
NC_000019.8:g.43768525del	NCBI36
NG_008866.1:g.157346del , LRG_766:g.157346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1804+43del
ENST00000688602.1:c.3201+43del
ENST00000689936.1:c.3173+43del
ENST00000692547.1:n.261+43del
ENST00000359596.8:c.14868+43del MANE Select	ENSP00000352608.2:n.14868+43del
ENST00000355481.8:c.14853+43del	ENSP00000347667.3:n.14853+43del
ENST00000359596.7:c.14868+43del	ENSP00000352608.2:n.14868+43del
ENST00000360985.7:c.14850+43del	ENSP00000354254.4:n.14850+43del
NM_000540.2:c.14868+43del , LRG_766t1:c.14868+43del	NP_000531.2:n.14868+43del
NM_001042723.1:c.14853+43del	NP_001036188.1:n.14853+43del
XM_006723317.1:c.14850+43del	XP_006723380.1:n.14850+43del
XM_006723319.1:c.14835+43del	XP_006723382.1:n.14835+43del
XM_011527204.1:c.14865+43del	XP_011525506.1:n.14865+43del
XM_011527205.1:c.14781+43del	XP_011525507.1:n.14781+43del
XM_006723317.2:c.14850+43del	XP_006723380.1:n.14850+43del
XM_006723319.2:c.14835+43del	XP_006723382.1:n.14835+43del
XM_011527205.2:c.14781+43del	XP_011525507.1:n.14781+43del
NM_000540.3:c.14868+43del MANE Select	NP_000531.2:n.14868+43del
NM_001042723.2:c.14853+43del	NP_001036188.1:n.14853+43del