Canonical Allele Identifier: CA024091

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65961
• ClinVar RCV Id: RCV000056208 ; RCV000119493 ; RCV001039994
• dbSNP Id: rs118192138
• MyVariant Identifiers: chr19:g.39062861T>C (hg19) ; chr19:g.38572221T>C (hg38)
• PubMed: PMID:12937085 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572221T>C , CM000681.2:g.38572221T>C	GRCh38
NC_000019.9:g.39062861T>C , CM000681.1:g.39062861T>C	GRCh37
NC_000019.8:g.43754701T>C	NCBI36
NG_008866.1:g.143522T>C , LRG_766:g.143522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.885T>C
ENST00000688602.1:c.2282T>C
ENST00000689936.1:c.2254T>C
ENST00000359596.8:c.13949T>C MANE Select	ENSP00000352608.2:p.Leu4650Pro
ENST00000355481.8:c.13934T>C	ENSP00000347667.3:p.Leu4645Pro
ENST00000359596.7:c.13949T>C	ENSP00000352608.2:p.Leu4650Pro
ENST00000360985.7:c.13931T>C	ENSP00000354254.4:p.Leu4644Pro
ENST00000593677.1:c.409T>C
NM_000540.2:c.13949T>C , LRG_766t1:c.13949T>C	NP_000531.2:p.Leu4650Pro
NM_001042723.1:c.13934T>C	NP_001036188.1:p.Leu4645Pro
XM_006723317.1:c.13931T>C	XP_006723380.1:p.Leu4644Pro
XM_006723319.1:c.13916T>C	XP_006723382.1:p.Leu4639Pro
XM_011527204.1:c.13946T>C	XP_011525506.1:p.Leu4649Pro
XM_011527205.1:c.13862T>C	XP_011525507.1:p.Leu4621Pro
XM_006723317.2:c.13931T>C	XP_006723380.1:p.Leu4644Pro
XM_006723319.2:c.13916T>C	XP_006723382.1:p.Leu4639Pro
XM_011527205.2:c.13862T>C	XP_011525507.1:p.Leu4621Pro
NM_000540.3:c.13949T>C MANE Select	NP_000531.2:p.Leu4650Pro
NM_001042723.2:c.13934T>C	NP_001036188.1:p.Leu4645Pro