Canonical Allele Identifier: CA915953038

Gene: RYR1

Linked Data

• ClinVar Variation Id: 663327
• ClinVar RCV Id: RCV000821183
• dbSNP Id: rs1599665089

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580422_38580424del , CM000681.2:g.38580422_38580424del	GRCh38
NC_000019.9:g.39071062_39071064del , CM000681.1:g.39071062_39071064del	GRCh37
NC_000019.8:g.43762902_43762904del	NCBI36
NG_008866.1:g.151723_151725del , LRG_766:g.151723_151725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1500_1502del
ENST00000688602.1:c.2897_2899del
ENST00000689936.1:c.2869_2871del
ENST00000359596.8:c.14564_14566del MANE Select	ENSP00000352608.2:p.Val4855del
ENST00000355481.8:c.14549_14551del	ENSP00000347667.3:p.Val4850del
ENST00000359596.7:c.14564_14566del	ENSP00000352608.2:p.Val4855del
ENST00000360985.7:c.14546_14548del	ENSP00000354254.4:p.Val4849del
NM_000540.2:c.14564_14566del , LRG_766t1:c.14564_14566del	NP_000531.2:p.Val4855del
NM_001042723.1:c.14549_14551del	NP_001036188.1:p.Val4850del
XM_006723317.1:c.14546_14548del	XP_006723380.1:p.Val4849del
XM_006723319.1:c.14531_14533del	XP_006723382.1:p.Val4844del
XM_011527204.1:c.14561_14563del	XP_011525506.1:p.Val4854del
XM_011527205.1:c.14477_14479del	XP_011525507.1:p.Val4826del
XM_006723317.2:c.14546_14548del	XP_006723380.1:p.Val4849del
XM_006723319.2:c.14531_14533del	XP_006723382.1:p.Val4844del
XM_011527205.2:c.14477_14479del	XP_011525507.1:p.Val4826del
NM_000540.3:c.14564_14566del MANE Select	NP_000531.2:p.Val4855del
NM_001042723.2:c.14549_14551del	NP_001036188.1:p.Val4850del