Canonical Allele Identifier: CA405674204

Gene: RYR1

Linked Data

• dbSNP Id: rs1316484641
• gnomAD v2: 19-39056169-C-A
• gnomAD v4: 19-38565529-C-A
• MyVariant Identifiers: chr19:g.39056169C>A (hg19) ; chr19:g.38565529C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565529C>A , CM000681.2:g.38565529C>A	GRCh38
NC_000019.9:g.39056169C>A , CM000681.1:g.39056169C>A	GRCh37
NC_000019.8:g.43748009C>A	NCBI36
NG_008866.1:g.136830C>A , LRG_766:g.136830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.131C>A
ENST00000688602.1:c.1605C>A
ENST00000689936.1:c.1587C>A
ENST00000359596.8:c.13195C>A MANE Select	ENSP00000352608.2:p.Pro4399Thr
ENST00000355481.8:c.13180C>A	ENSP00000347667.3:p.Pro4394Thr
ENST00000359596.7:c.13195C>A	ENSP00000352608.2:p.Pro4399Thr
ENST00000360985.7:c.13177C>A	ENSP00000354254.4:p.Pro4393Thr
NM_000540.2:c.13195C>A , LRG_766t1:c.13195C>A	NP_000531.2:p.Pro4399Thr
NM_001042723.1:c.13180C>A	NP_001036188.1:p.Pro4394Thr
XM_006723317.1:c.13177C>A	XP_006723380.1:p.Pro4393Thr
XM_006723319.1:c.13162C>A	XP_006723382.1:p.Pro4388Thr
XM_011527204.1:c.13192C>A	XP_011525506.1:p.Pro4398Thr
XM_011527205.1:c.13195C>A	XP_011525507.1:p.Pro4399Thr
XM_006723317.2:c.13177C>A	XP_006723380.1:p.Pro4393Thr
XM_006723319.2:c.13162C>A	XP_006723382.1:p.Pro4388Thr
XM_011527205.2:c.13195C>A	XP_011525507.1:p.Pro4399Thr
NM_000540.3:c.13195C>A MANE Select	NP_000531.2:p.Pro4399Thr
NM_001042723.2:c.13180C>A	NP_001036188.1:p.Pro4394Thr