Canonical Allele Identifier: CA507355890

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2903619
• ClinVar RCV Id: RCV003756929
• gnomAD v4: 19-38565417-G-A
• MyVariant Identifiers: chr19:g.39056057G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565417G>A , CM000681.2:g.38565417G>A	GRCh38
NC_000019.9:g.39056057G>A , CM000681.1:g.39056057G>A	GRCh37
NC_000019.8:g.43747897G>A	NCBI36
NG_008866.1:g.136718G>A , LRG_766:g.136718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.19G>A
ENST00000688602.1:c.1493G>A
ENST00000689936.1:c.1475G>A
ENST00000359596.8:c.13083G>A MANE Select	ENSP00000352608.2:p.Ser4361=
ENST00000355481.8:c.13068G>A	ENSP00000347667.3:p.Ser4356=
ENST00000359596.7:c.13083G>A	ENSP00000352608.2:p.Ser4361=
ENST00000360985.7:c.13065G>A	ENSP00000354254.4:p.Ser4355=
NM_000540.2:c.13083G>A , LRG_766t1:c.13083G>A	NP_000531.2:p.Ser4361=
NM_001042723.1:c.13068G>A	NP_001036188.1:p.Ser4356=
XM_006723317.1:c.13065G>A	XP_006723380.1:p.Ser4355=
XM_006723319.1:c.13050G>A	XP_006723382.1:p.Ser4350=
XM_011527204.1:c.13080G>A	XP_011525506.1:p.Ser4360=
XM_011527205.1:c.13083G>A	XP_011525507.1:p.Ser4361=
XM_006723317.2:c.13065G>A	XP_006723380.1:p.Ser4355=
XM_006723319.2:c.13050G>A	XP_006723382.1:p.Ser4350=
XM_011527205.2:c.13083G>A	XP_011525507.1:p.Ser4361=
NM_000540.3:c.13083G>A MANE Select	NP_000531.2:p.Ser4361=
NM_001042723.2:c.13068G>A	NP_001036188.1:p.Ser4356=