Canonical Allele Identifier: CA023862

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65958
• ClinVar RCV Id: RCV000056205 ; RCV000119419
• dbSNP Id: rs118192127
• MyVariant Identifiers: chr19:g.39018417T>C (hg19) ; chr19:g.38527777T>C (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38527777T>C , CM000681.2:g.38527777T>C	GRCh38
NC_000019.9:g.39018417T>C , CM000681.1:g.39018417T>C	GRCh37
NC_000019.8:g.43710257T>C	NCBI36
NG_008866.1:g.99078T>C , LRG_766:g.99078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.10756T>C	ENSP00000471601.2:n.10756T>C
ENST00000359596.8:c.10817T>C MANE Select	ENSP00000352608.2:p.Leu3606Pro
ENST00000355481.8:c.10802T>C	ENSP00000347667.3:p.Leu3601Pro
ENST00000359596.7:c.10817T>C	ENSP00000352608.2:p.Leu3606Pro
ENST00000360985.7:c.10799T>C	ENSP00000354254.4:p.Leu3600Pro
ENST00000594335.5:c.4204T>C
ENST00000599547.5:c.1624T>C
NM_000540.2:c.10817T>C , LRG_766t1:c.10817T>C	NP_000531.2:p.Leu3606Pro
NM_001042723.1:c.10802T>C	NP_001036188.1:p.Leu3601Pro
XM_006723317.1:c.10817T>C	XP_006723380.1:p.Leu3606Pro
XM_006723319.1:c.10802T>C	XP_006723382.1:p.Leu3601Pro
XM_011527204.1:c.10814T>C	XP_011525506.1:p.Leu3605Pro
XM_011527205.1:c.10817T>C	XP_011525507.1:p.Leu3606Pro
XM_006723317.2:c.10817T>C	XP_006723380.1:p.Leu3606Pro
XM_006723319.2:c.10802T>C	XP_006723382.1:p.Leu3601Pro
XM_011527205.2:c.10817T>C	XP_011525507.1:p.Leu3606Pro
XR_001753936.1:n.236-2A>G
NM_000540.3:c.10817T>C MANE Select	NP_000531.2:p.Leu3606Pro
NM_001042723.2:c.10802T>C	NP_001036188.1:p.Leu3601Pro