Canonical Allele Identifier: CA024076

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65934
• ClinVar RCV Id: RCV000056181 ; RCV000119486
• dbSNP Id: rs118192133
• MyVariant Identifiers: chr19:g.39062812G>A (hg19) ; chr19:g.38572172G>A (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572172G>A , CM000681.2:g.38572172G>A	GRCh38
NC_000019.9:g.39062812G>A , CM000681.1:g.39062812G>A	GRCh37
NC_000019.8:g.43754652G>A	NCBI36
NG_008866.1:g.143473G>A , LRG_766:g.143473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.836G>A
ENST00000688602.1:c.2233G>A
ENST00000689936.1:c.2205G>A
ENST00000359596.8:c.13900G>A MANE Select	ENSP00000352608.2:p.Glu4634Lys
ENST00000355481.8:c.13885G>A	ENSP00000347667.3:p.Glu4629Lys
ENST00000359596.7:c.13900G>A	ENSP00000352608.2:p.Glu4634Lys
ENST00000360985.7:c.13882G>A	ENSP00000354254.4:p.Glu4628Lys
ENST00000593677.1:c.360G>A
NM_000540.2:c.13900G>A , LRG_766t1:c.13900G>A	NP_000531.2:p.Glu4634Lys
NM_001042723.1:c.13885G>A	NP_001036188.1:p.Glu4629Lys
XM_006723317.1:c.13882G>A	XP_006723380.1:p.Glu4628Lys
XM_006723319.1:c.13867G>A	XP_006723382.1:p.Glu4623Lys
XM_011527204.1:c.13897G>A	XP_011525506.1:p.Glu4633Lys
XM_011527205.1:c.13813G>A	XP_011525507.1:p.Glu4605Lys
XM_006723317.2:c.13882G>A	XP_006723380.1:p.Glu4628Lys
XM_006723319.2:c.13867G>A	XP_006723382.1:p.Glu4623Lys
XM_011527205.2:c.13813G>A	XP_011525507.1:p.Glu4605Lys
NM_000540.3:c.13900G>A MANE Select	NP_000531.2:p.Glu4634Lys
NM_001042723.2:c.13885G>A	NP_001036188.1:p.Glu4629Lys