Canonical Allele Identifier: CA633066749

Gene: RYR1

Linked Data

• dbSNP Id: rs1282504094
• gnomAD v2: 19-39034031-AT-A
• MyVariant Identifiers: chr19:g.39034032del (hg19) ; chr19:g.38543392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543393del , CM000681.2:g.38543393del	GRCh38
NC_000019.9:g.39034033del , CM000681.1:g.39034033del	GRCh37
NC_000019.8:g.43725873del	NCBI36
NG_008866.1:g.114694del , LRG_766:g.114694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.146del
ENST00000689936.1:c.128del
ENST00000359596.8:c.11736del MANE Select	ENSP00000352608.2:p.Asn3913ThrfsTer?
ENST00000355481.8:c.11721del	ENSP00000347667.3:p.Asn3908ThrfsTer?
ENST00000359596.7:c.11736del	ENSP00000352608.2:p.Asn3913ThrfsTer?
ENST00000360985.7:c.11718del	ENSP00000354254.4:p.Asn3907ThrfsTer?
ENST00000593322.1:c.345del
ENST00000594335.5:c.5105del
NM_000540.2:c.11736del , LRG_766t1:c.11736del	NP_000531.2:p.Asn3913ThrfsTer?
NM_001042723.1:c.11721del	NP_001036188.1:p.Asn3908ThrfsTer?
XM_006723317.1:c.11718del	XP_006723380.1:p.Asn3907ThrfsTer?
XM_006723319.1:c.11703del	XP_006723382.1:p.Asn3902ThrfsTer?
XM_011527204.1:c.11733del	XP_011525506.1:p.Asn3912ThrfsTer?
XM_011527205.1:c.11736del	XP_011525507.1:p.Asn3913ThrfsTer?
XM_006723317.2:c.11718del	XP_006723380.1:p.Asn3907ThrfsTer?
XM_006723319.2:c.11703del	XP_006723382.1:p.Asn3902ThrfsTer?
XM_011527205.2:c.11736del	XP_011525507.1:p.Asn3913ThrfsTer?
NM_000540.3:c.11736del MANE Select	NP_000531.2:p.Asn3913ThrfsTer?
NM_001042723.2:c.11721del	NP_001036188.1:p.Asn3908ThrfsTer?