Canonical Allele Identifier: CA024080

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65995
• ClinVar RCV Id: RCV000056242 ; RCV000119488 ; RCV000536286
• dbSNP Id: rs118192134
• MyVariant Identifiers: chr19:g.39062822C>T (hg19) ; chr19:g.38572182C>T (hg38)
• PubMed: PMID:12565913 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572182C>T , CM000681.2:g.38572182C>T	GRCh38
NC_000019.9:g.39062822C>T , CM000681.1:g.39062822C>T	GRCh37
NC_000019.8:g.43754662C>T	NCBI36
NG_008866.1:g.143483C>T , LRG_766:g.143483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.846C>T
ENST00000688602.1:c.2243C>T
ENST00000689936.1:c.2215C>T
ENST00000359596.8:c.13910C>T MANE Select	ENSP00000352608.2:p.Thr4637Ile
ENST00000355481.8:c.13895C>T	ENSP00000347667.3:p.Thr4632Ile
ENST00000359596.7:c.13910C>T	ENSP00000352608.2:p.Thr4637Ile
ENST00000360985.7:c.13892C>T	ENSP00000354254.4:p.Thr4631Ile
ENST00000593677.1:c.370C>T
NM_000540.2:c.13910C>T , LRG_766t1:c.13910C>T	NP_000531.2:p.Thr4637Ile
NM_001042723.1:c.13895C>T	NP_001036188.1:p.Thr4632Ile
XM_006723317.1:c.13892C>T	XP_006723380.1:p.Thr4631Ile
XM_006723319.1:c.13877C>T	XP_006723382.1:p.Thr4626Ile
XM_011527204.1:c.13907C>T	XP_011525506.1:p.Thr4636Ile
XM_011527205.1:c.13823C>T	XP_011525507.1:p.Thr4608Ile
XM_006723317.2:c.13892C>T	XP_006723380.1:p.Thr4631Ile
XM_006723319.2:c.13877C>T	XP_006723382.1:p.Thr4626Ile
XM_011527205.2:c.13823C>T	XP_011525507.1:p.Thr4608Ile
NM_000540.3:c.13910C>T MANE Select	NP_000531.2:p.Thr4637Ile
NM_001042723.2:c.13895C>T	NP_001036188.1:p.Thr4632Ile