Canonical Allele Identifier: CA405673251

Gene: RYR1

Linked Data

• dbSNP Id: rs1973359091
• gnomAD v3: 19-38565388-G-A
• gnomAD v4: 19-38565388-G-A
• MyVariant Identifiers: chr19:g.39056028G>A (hg19) ; chr19:g.38565388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565388G>A , CM000681.2:g.38565388G>A	GRCh38
NC_000019.9:g.39056028G>A , CM000681.1:g.39056028G>A	GRCh37
NC_000019.8:g.43747868G>A	NCBI36
NG_008866.1:g.136689G>A , LRG_766:g.136689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1464G>A
ENST00000689936.1:c.1446G>A
ENST00000359596.8:c.13054G>A MANE Select	ENSP00000352608.2:p.Ala4352Thr
ENST00000355481.8:c.13039G>A	ENSP00000347667.3:p.Ala4347Thr
ENST00000359596.7:c.13054G>A	ENSP00000352608.2:p.Ala4352Thr
ENST00000360985.7:c.13036G>A	ENSP00000354254.4:p.Ala4346Thr
NM_000540.2:c.13054G>A , LRG_766t1:c.13054G>A	NP_000531.2:p.Ala4352Thr
NM_001042723.1:c.13039G>A	NP_001036188.1:p.Ala4347Thr
XM_006723317.1:c.13036G>A	XP_006723380.1:p.Ala4346Thr
XM_006723319.1:c.13021G>A	XP_006723382.1:p.Ala4341Thr
XM_011527204.1:c.13051G>A	XP_011525506.1:p.Ala4351Thr
XM_011527205.1:c.13054G>A	XP_011525507.1:p.Ala4352Thr
XM_006723317.2:c.13036G>A	XP_006723380.1:p.Ala4346Thr
XM_006723319.2:c.13021G>A	XP_006723382.1:p.Ala4341Thr
XM_011527205.2:c.13054G>A	XP_011525507.1:p.Ala4352Thr
NM_000540.3:c.13054G>A MANE Select	NP_000531.2:p.Ala4352Thr
NM_001042723.2:c.13039G>A	NP_001036188.1:p.Ala4347Thr