Canonical Allele Identifier: CA081022

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3070621
• ClinVar RCV Id: RCV004013131
• dbSNP Id: rs1277330815
• gnomAD v2: 19-39062764-G-A
• gnomAD v4: 19-38572124-G-A
• MyVariant Identifiers: chr19:g.39062764G>A (hg19) ; chr19:g.38572124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572124G>A , CM000681.2:g.38572124G>A	GRCh38
NC_000019.9:g.39062764G>A , CM000681.1:g.39062764G>A	GRCh37
NC_000019.8:g.43754604G>A	NCBI36
NG_008866.1:g.143425G>A , LRG_766:g.143425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.788G>A
ENST00000688602.1:c.2185G>A
ENST00000689936.1:c.2157G>A
ENST00000359596.8:c.13852G>A MANE Select	ENSP00000352608.2:p.Glu4618Lys
ENST00000355481.8:c.13837G>A	ENSP00000347667.3:p.Glu4613Lys
ENST00000359596.7:c.13852G>A	ENSP00000352608.2:p.Glu4618Lys
ENST00000360985.7:c.13834G>A	ENSP00000354254.4:p.Glu4612Lys
ENST00000593677.1:c.312G>A
NM_000540.2:c.13852G>A , LRG_766t1:c.13852G>A	NP_000531.2:p.Glu4618Lys
NM_001042723.1:c.13837G>A	NP_001036188.1:p.Glu4613Lys
XM_006723317.1:c.13834G>A	XP_006723380.1:p.Glu4612Lys
XM_006723319.1:c.13819G>A	XP_006723382.1:p.Glu4607Lys
XM_011527204.1:c.13849G>A	XP_011525506.1:p.Glu4617Lys
XM_011527205.1:c.13765G>A	XP_011525507.1:p.Glu4589Lys
XM_006723317.2:c.13834G>A	XP_006723380.1:p.Glu4612Lys
XM_006723319.2:c.13819G>A	XP_006723382.1:p.Glu4607Lys
XM_011527205.2:c.13765G>A	XP_011525507.1:p.Glu4589Lys
NM_000540.3:c.13852G>A MANE Select	NP_000531.2:p.Glu4618Lys
NM_001042723.2:c.13837G>A	NP_001036188.1:p.Glu4613Lys