Canonical Allele Identifier: CA405688159

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3070323
• ClinVar RCV Id: RCV004011841
• MyVariant Identifiers: chr19:g.39071141G>A (hg19) ; chr19:g.38580501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580501G>A , CM000681.2:g.38580501G>A	GRCh38
NC_000019.9:g.39071141G>A , CM000681.1:g.39071141G>A	GRCh37
NC_000019.8:g.43762981G>A	NCBI36
NG_008866.1:g.151802G>A , LRG_766:g.151802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1579G>A
ENST00000688602.1:c.2976G>A
ENST00000689936.1:c.2948G>A
ENST00000359596.8:c.14643G>A MANE Select	ENSP00000352608.2:p.Met4881Ile
ENST00000355481.8:c.14628G>A	ENSP00000347667.3:p.Met4876Ile
ENST00000359596.7:c.14643G>A	ENSP00000352608.2:p.Met4881Ile
ENST00000360985.7:c.14625G>A	ENSP00000354254.4:p.Met4875Ile
NM_000540.2:c.14643G>A , LRG_766t1:c.14643G>A	NP_000531.2:p.Met4881Ile
NM_001042723.1:c.14628G>A	NP_001036188.1:p.Met4876Ile
XM_006723317.1:c.14625G>A	XP_006723380.1:p.Met4875Ile
XM_006723319.1:c.14610G>A	XP_006723382.1:p.Met4870Ile
XM_011527204.1:c.14640G>A	XP_011525506.1:p.Met4880Ile
XM_011527205.1:c.14556G>A	XP_011525507.1:p.Met4852Ile
XM_006723317.2:c.14625G>A	XP_006723380.1:p.Met4875Ile
XM_006723319.2:c.14610G>A	XP_006723382.1:p.Met4870Ile
XM_011527205.2:c.14556G>A	XP_011525507.1:p.Met4852Ile
NM_000540.3:c.14643G>A MANE Select	NP_000531.2:p.Met4881Ile
NM_001042723.2:c.14628G>A	NP_001036188.1:p.Met4876Ile