Canonical Allele Identifier: CA060981

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329135
• ClinVar RCV Id: RCV000267872 ; RCV000303085 ; RCV000315974 ; RCV000360214 ; RCV000531112
• dbSNP Id: rs201670423
• ExAC: 19:39068581 C / A
• gnomAD v2: 19-39068581-C-A
• gnomAD v3: 19-38577941-C-A
• gnomAD v4: 19-38577941-C-A
• MyVariant Identifiers: chr19:g.39068581C>A (hg19) ; chr19:g.38577941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38577941C>A , CM000681.2:g.38577941C>A	GRCh38
NC_000019.9:g.39068581C>A , CM000681.1:g.39068581C>A	GRCh37
NC_000019.8:g.43760421C>A	NCBI36
NG_008866.1:g.149242C>A , LRG_766:g.149242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1132C>A
ENST00000688602.1:c.2529C>A
ENST00000689936.1:c.2501C>A
ENST00000359596.8:c.14196C>A MANE Select	ENSP00000352608.2:p.Ile4732=
ENST00000355481.8:c.14181C>A	ENSP00000347667.3:p.Ile4727=
ENST00000359596.7:c.14196C>A	ENSP00000352608.2:p.Ile4732=
ENST00000360985.7:c.14178C>A	ENSP00000354254.4:p.Ile4726=
NM_000540.2:c.14196C>A , LRG_766t1:c.14196C>A	NP_000531.2:p.Ile4732=
NM_001042723.1:c.14181C>A	NP_001036188.1:p.Ile4727=
XM_006723317.1:c.14178C>A	XP_006723380.1:p.Ile4726=
XM_006723319.1:c.14163C>A	XP_006723382.1:p.Ile4721=
XM_011527204.1:c.14193C>A	XP_011525506.1:p.Ile4731=
XM_011527205.1:c.14109C>A	XP_011525507.1:p.Ile4703=
XM_006723317.2:c.14178C>A	XP_006723380.1:p.Ile4726=
XM_006723319.2:c.14163C>A	XP_006723382.1:p.Ile4721=
XM_011527205.2:c.14109C>A	XP_011525507.1:p.Ile4703=
NM_000540.3:c.14196C>A MANE Select	NP_000531.2:p.Ile4732=
NM_001042723.2:c.14181C>A	NP_001036188.1:p.Ile4727=