Canonical Allele Identifier: CA405674174

Gene: RYR1

Linked Data

• dbSNP Id: rs1973368582
• gnomAD v4: 19-38565523-G-A
• MyVariant Identifiers: chr19:g.39056163G>A (hg19) ; chr19:g.38565523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565523G>A , CM000681.2:g.38565523G>A	GRCh38
NC_000019.9:g.39056163G>A , CM000681.1:g.39056163G>A	GRCh37
NC_000019.8:g.43748003G>A	NCBI36
NG_008866.1:g.136824G>A , LRG_766:g.136824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.125G>A
ENST00000688602.1:c.1599G>A
ENST00000689936.1:c.1581G>A
ENST00000359596.8:c.13189G>A MANE Select	ENSP00000352608.2:p.Ala4397Thr
ENST00000355481.8:c.13174G>A	ENSP00000347667.3:p.Ala4392Thr
ENST00000359596.7:c.13189G>A	ENSP00000352608.2:p.Ala4397Thr
ENST00000360985.7:c.13171G>A	ENSP00000354254.4:p.Ala4391Thr
NM_000540.2:c.13189G>A , LRG_766t1:c.13189G>A	NP_000531.2:p.Ala4397Thr
NM_001042723.1:c.13174G>A	NP_001036188.1:p.Ala4392Thr
XM_006723317.1:c.13171G>A	XP_006723380.1:p.Ala4391Thr
XM_006723319.1:c.13156G>A	XP_006723382.1:p.Ala4386Thr
XM_011527204.1:c.13186G>A	XP_011525506.1:p.Ala4396Thr
XM_011527205.1:c.13189G>A	XP_011525507.1:p.Ala4397Thr
XM_006723317.2:c.13171G>A	XP_006723380.1:p.Ala4391Thr
XM_006723319.2:c.13156G>A	XP_006723382.1:p.Ala4386Thr
XM_011527205.2:c.13189G>A	XP_011525507.1:p.Ala4397Thr
NM_000540.3:c.13189G>A MANE Select	NP_000531.2:p.Ala4397Thr
NM_001042723.2:c.13174G>A	NP_001036188.1:p.Ala4392Thr