Canonical Allele Identifier: CA024130

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65962
• ClinVar RCV Id: RCV000056209 ; RCV000119508 ; RCV001854162
• dbSNP Id: rs118192179
• MyVariant Identifiers: chr19:g.39070635T>C (hg19) ; chr19:g.38579995T>C (hg38)
• PubMed: PMID:11709545 ; PMID:17204937 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579995T>C , CM000681.2:g.38579995T>C	GRCh38
NC_000019.9:g.39070635T>C , CM000681.1:g.39070635T>C	GRCh37
NC_000019.8:g.43762475T>C	NCBI36
NG_008866.1:g.151296T>C , LRG_766:g.151296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1314T>C
ENST00000688602.1:c.2711T>C
ENST00000689936.1:c.2683T>C
ENST00000359596.8:c.14378T>C MANE Select	ENSP00000352608.2:p.Leu4793Pro
ENST00000355481.8:c.14363T>C	ENSP00000347667.3:p.Leu4788Pro
ENST00000359596.7:c.14378T>C	ENSP00000352608.2:p.Leu4793Pro
ENST00000360985.7:c.14360T>C	ENSP00000354254.4:p.Leu4787Pro
NM_000540.2:c.14378T>C , LRG_766t1:c.14378T>C	NP_000531.2:p.Leu4793Pro
NM_001042723.1:c.14363T>C	NP_001036188.1:p.Leu4788Pro
XM_006723317.1:c.14360T>C	XP_006723380.1:p.Leu4787Pro
XM_006723319.1:c.14345T>C	XP_006723382.1:p.Leu4782Pro
XM_011527204.1:c.14375T>C	XP_011525506.1:p.Leu4792Pro
XM_011527205.1:c.14291T>C	XP_011525507.1:p.Leu4764Pro
XM_006723317.2:c.14360T>C	XP_006723380.1:p.Leu4787Pro
XM_006723319.2:c.14345T>C	XP_006723382.1:p.Leu4782Pro
XM_011527205.2:c.14291T>C	XP_011525507.1:p.Leu4764Pro
NM_000540.3:c.14378T>C MANE Select	NP_000531.2:p.Leu4793Pro
NM_001042723.2:c.14363T>C	NP_001036188.1:p.Leu4788Pro