Canonical Allele Identifier: CA024231

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65947
• ClinVar RCV Id: RCV000056194 ; RCV000119551
• dbSNP Id: rs118192148
• MyVariant Identifiers: chr19:g.39075626G>T (hg19) ; chr19:g.38584986G>T (hg38)
• PubMed: PMID:17226826 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584986G>T , CM000681.2:g.38584986G>T	GRCh38
NC_000019.9:g.39075626G>T , CM000681.1:g.39075626G>T	GRCh37
NC_000019.8:g.43767466G>T	NCBI36
NG_008866.1:g.156287G>T , LRG_766:g.156287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1626G>T
ENST00000688602.1:c.3023G>T
ENST00000689936.1:c.2995G>T
ENST00000692547.1:n.83G>T
ENST00000359596.8:c.14690G>T MANE Select	ENSP00000352608.2:p.Gly4897Val
ENST00000355481.8:c.14675G>T	ENSP00000347667.3:p.Gly4892Val
ENST00000359596.7:c.14690G>T	ENSP00000352608.2:p.Gly4897Val
ENST00000360985.7:c.14672G>T	ENSP00000354254.4:p.Gly4891Val
NM_000540.2:c.14690G>T , LRG_766t1:c.14690G>T	NP_000531.2:p.Gly4897Val
NM_001042723.1:c.14675G>T	NP_001036188.1:p.Gly4892Val
XM_006723317.1:c.14672G>T	XP_006723380.1:p.Gly4891Val
XM_006723319.1:c.14657G>T	XP_006723382.1:p.Gly4886Val
XM_011527204.1:c.14687G>T	XP_011525506.1:p.Gly4896Val
XM_011527205.1:c.14603G>T	XP_011525507.1:p.Gly4868Val
XM_006723317.2:c.14672G>T	XP_006723380.1:p.Gly4891Val
XM_006723319.2:c.14657G>T	XP_006723382.1:p.Gly4886Val
XM_011527205.2:c.14603G>T	XP_011525507.1:p.Gly4868Val
NM_000540.3:c.14690G>T MANE Select	NP_000531.2:p.Gly4897Val
NM_001042723.2:c.14675G>T	NP_001036188.1:p.Gly4892Val