Canonical Allele Identifier: CA405681175

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2307299
• ClinVar RCV Id: RCV002879556
• MyVariant Identifiers: chr19:g.39062842C>A (hg19) ; chr19:g.38572202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572202C>A , CM000681.2:g.38572202C>A	GRCh38
NC_000019.9:g.39062842C>A , CM000681.1:g.39062842C>A	GRCh37
NC_000019.8:g.43754682C>A	NCBI36
NG_008866.1:g.143503C>A , LRG_766:g.143503C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.866C>A
ENST00000688602.1:c.2263C>A
ENST00000689936.1:c.2235C>A
ENST00000359596.8:c.13930C>A MANE Select	ENSP00000352608.2:p.Leu4644Met
ENST00000355481.8:c.13915C>A	ENSP00000347667.3:p.Leu4639Met
ENST00000359596.7:c.13930C>A	ENSP00000352608.2:p.Leu4644Met
ENST00000360985.7:c.13912C>A	ENSP00000354254.4:p.Leu4638Met
ENST00000593677.1:c.390C>A
NM_000540.2:c.13930C>A , LRG_766t1:c.13930C>A	NP_000531.2:p.Leu4644Met
NM_001042723.1:c.13915C>A	NP_001036188.1:p.Leu4639Met
XM_006723317.1:c.13912C>A	XP_006723380.1:p.Leu4638Met
XM_006723319.1:c.13897C>A	XP_006723382.1:p.Leu4633Met
XM_011527204.1:c.13927C>A	XP_011525506.1:p.Leu4643Met
XM_011527205.1:c.13843C>A	XP_011525507.1:p.Leu4615Met
XM_006723317.2:c.13912C>A	XP_006723380.1:p.Leu4638Met
XM_006723319.2:c.13897C>A	XP_006723382.1:p.Leu4633Met
XM_011527205.2:c.13843C>A	XP_011525507.1:p.Leu4615Met
NM_000540.3:c.13930C>A MANE Select	NP_000531.2:p.Leu4644Met
NM_001042723.2:c.13915C>A	NP_001036188.1:p.Leu4639Met