Canonical Allele Identifier: CA507247094

Gene: RYR1

Linked Data

• COSMIC: COSM1612189
• MyVariant Identifiers: chr19:g.39008034del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517396del , CM000681.2:g.38517396del	GRCh38
NC_000019.9:g.39008036del , CM000681.1:g.39008036del	GRCh37
NC_000019.8:g.43699876del	NCBI36
NG_008866.1:g.88697del , LRG_766:g.88697del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9662del	ENSP00000471601.2:n.9662del
ENST00000359596.8:c.9723del MANE Select	ENSP00000352608.2:p.Asp3242ThrfsTer?
ENST00000355481.8:c.9723del	ENSP00000347667.3:p.Asp3242ThrfsTer?
ENST00000359596.7:c.9723del	ENSP00000352608.2:p.Asp3242ThrfsTer?
ENST00000360985.7:c.9720del	ENSP00000354254.4:p.Asp3241ThrfsTer?
ENST00000594335.5:c.3125del
ENST00000599547.5:c.530del
NM_000540.2:c.9723del , LRG_766t1:c.9723del	NP_000531.2:p.Asp3242ThrfsTer?
NM_001042723.1:c.9723del	NP_001036188.1:p.Asp3242ThrfsTer?
XM_006723317.1:c.9723del	XP_006723380.1:p.Asp3242ThrfsTer?
XM_006723319.1:c.9723del	XP_006723382.1:p.Asp3242ThrfsTer?
XM_011527204.1:c.9720del	XP_011525506.1:p.Asp3241ThrfsTer?
XM_011527205.1:c.9723del	XP_011525507.1:p.Asp3242ThrfsTer?
XM_006723317.2:c.9723del	XP_006723380.1:p.Asp3242ThrfsTer?
XM_006723319.2:c.9723del	XP_006723382.1:p.Asp3242ThrfsTer?
XM_011527205.2:c.9723del	XP_011525507.1:p.Asp3242ThrfsTer?
XR_001753735.1:n.9756del
NM_000540.3:c.9723del MANE Select	NP_000531.2:p.Asp3242ThrfsTer?
NM_001042723.2:c.9723del	NP_001036188.1:p.Asp3242ThrfsTer?