Canonical Allele Identifier: CA061474

Gene: RYR1

Linked Data

• ClinVar Variation Id: 212095
• ClinVar RCV Id: RCV000192736 ; RCV000706064 ; RCV002485290 ; RCV003996907
• dbSNP Id: rs536148030
• ExAC: 19:39071144 G / A
• gnomAD v2: 19-39071144-G-A
• gnomAD v3: 19-38580504-G-A
• gnomAD v4: 19-38580504-G-A
• MyVariant Identifiers: chr19:g.39071144G>A (hg19) ; chr19:g.38580504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580504G>A , CM000681.2:g.38580504G>A	GRCh38
NC_000019.9:g.39071144G>A , CM000681.1:g.39071144G>A	GRCh37
NC_000019.8:g.43762984G>A	NCBI36
NG_008866.1:g.151805G>A , LRG_766:g.151805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1582G>A
ENST00000688602.1:c.2979G>A
ENST00000689936.1:c.2951G>A
ENST00000359596.8:c.14646G>A MANE Select	ENSP00000352608.2:p.Thr4882=
ENST00000355481.8:c.14631G>A	ENSP00000347667.3:p.Thr4877=
ENST00000359596.7:c.14646G>A	ENSP00000352608.2:p.Thr4882=
ENST00000360985.7:c.14628G>A	ENSP00000354254.4:p.Thr4876=
NM_000540.2:c.14646G>A , LRG_766t1:c.14646G>A	NP_000531.2:p.Thr4882=
NM_001042723.1:c.14631G>A	NP_001036188.1:p.Thr4877=
XM_006723317.1:c.14628G>A	XP_006723380.1:p.Thr4876=
XM_006723319.1:c.14613G>A	XP_006723382.1:p.Thr4871=
XM_011527204.1:c.14643G>A	XP_011525506.1:p.Thr4881=
XM_011527205.1:c.14559G>A	XP_011525507.1:p.Thr4853=
XM_006723317.2:c.14628G>A	XP_006723380.1:p.Thr4876=
XM_006723319.2:c.14613G>A	XP_006723382.1:p.Thr4871=
XM_011527205.2:c.14559G>A	XP_011525507.1:p.Thr4853=
NM_000540.3:c.14646G>A MANE Select	NP_000531.2:p.Thr4882=
NM_001042723.2:c.14631G>A	NP_001036188.1:p.Thr4877=