Canonical Allele Identifier: CA058467

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329114
• ClinVar RCV Id: RCV000270290 ; RCV000273946 ; RCV000315124 ; RCV000369757
• dbSNP Id: rs764395582
• ExAC: 19:39038997 T / A
• gnomAD v2: 19-39038997-T-A
• gnomAD v3: 19-38548357-T-A
• gnomAD v4: 19-38548357-T-A
• MyVariant Identifiers: chr19:g.39038997T>A (hg19) ; chr19:g.38548357T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38548357T>A , CM000681.2:g.38548357T>A	GRCh38
NC_000019.9:g.39038997T>A , CM000681.1:g.39038997T>A	GRCh37
NC_000019.8:g.43730837T>A	NCBI36
NG_008866.1:g.119658T>A , LRG_766:g.119658T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.629T>A
ENST00000689936.1:c.611T>A
ENST00000359596.8:c.12219T>A MANE Select	ENSP00000352608.2:p.Ser4073=
ENST00000355481.8:c.12204T>A	ENSP00000347667.3:p.Ser4068=
ENST00000359596.7:c.12219T>A	ENSP00000352608.2:p.Ser4073=
ENST00000360985.7:c.12201T>A	ENSP00000354254.4:p.Ser4067=
ENST00000593322.1:c.828T>A
ENST00000594335.5:c.5588T>A
NM_000540.2:c.12219T>A , LRG_766t1:c.12219T>A	NP_000531.2:p.Ser4073=
NM_001042723.1:c.12204T>A	NP_001036188.1:p.Ser4068=
XM_006723317.1:c.12201T>A	XP_006723380.1:p.Ser4067=
XM_006723319.1:c.12186T>A	XP_006723382.1:p.Ser4062=
XM_011527204.1:c.12216T>A	XP_011525506.1:p.Ser4072=
XM_011527205.1:c.12219T>A	XP_011525507.1:p.Ser4073=
XM_006723317.2:c.12201T>A	XP_006723380.1:p.Ser4067=
XM_006723319.2:c.12186T>A	XP_006723382.1:p.Ser4062=
XM_011527205.2:c.12219T>A	XP_011525507.1:p.Ser4073=
NM_000540.3:c.12219T>A MANE Select	NP_000531.2:p.Ser4073=
NM_001042723.2:c.12204T>A	NP_001036188.1:p.Ser4068=