Canonical Allele Identifier: CA405681590

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2754988
• ClinVar RCV Id: RCV003591471
• MyVariant Identifiers: chr19:g.39062908A>G (hg19) ; chr19:g.38572268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572268A>G , CM000681.2:g.38572268A>G	GRCh38
NC_000019.9:g.39062908A>G , CM000681.1:g.39062908A>G	GRCh37
NC_000019.8:g.43754748A>G	NCBI36
NG_008866.1:g.143569A>G , LRG_766:g.143569A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.932A>G
ENST00000688602.1:c.2329A>G
ENST00000689936.1:c.2301A>G
ENST00000359596.8:c.13996A>G MANE Select	ENSP00000352608.2:p.Lys4666Glu
ENST00000355481.8:c.13981A>G	ENSP00000347667.3:p.Lys4661Glu
ENST00000359596.7:c.13996A>G	ENSP00000352608.2:p.Lys4666Glu
ENST00000360985.7:c.13978A>G	ENSP00000354254.4:p.Lys4660Glu
NM_000540.2:c.13996A>G , LRG_766t1:c.13996A>G	NP_000531.2:p.Lys4666Glu
NM_001042723.1:c.13981A>G	NP_001036188.1:p.Lys4661Glu
XM_006723317.1:c.13978A>G	XP_006723380.1:p.Lys4660Glu
XM_006723319.1:c.13963A>G	XP_006723382.1:p.Lys4655Glu
XM_011527204.1:c.13993A>G	XP_011525506.1:p.Lys4665Glu
XM_011527205.1:c.13909A>G	XP_011525507.1:p.Lys4637Glu
XM_006723317.2:c.13978A>G	XP_006723380.1:p.Lys4660Glu
XM_006723319.2:c.13963A>G	XP_006723382.1:p.Lys4655Glu
XM_011527205.2:c.13909A>G	XP_011525507.1:p.Lys4637Glu
NM_000540.3:c.13996A>G MANE Select	NP_000531.2:p.Lys4666Glu
NM_001042723.2:c.13981A>G	NP_001036188.1:p.Lys4661Glu