Canonical Allele Identifier: CA405687711

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1385227
• ClinVar RCV Id: RCV001902833
• dbSNP Id: rs2145896601
• MyVariant Identifiers: chr19:g.39071064G>A (hg19) ; chr19:g.38580424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580424G>A , CM000681.2:g.38580424G>A	GRCh38
NC_000019.9:g.39071064G>A , CM000681.1:g.39071064G>A	GRCh37
NC_000019.8:g.43762904G>A	NCBI36
NG_008866.1:g.151725G>A , LRG_766:g.151725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1502G>A
ENST00000688602.1:c.2899G>A
ENST00000689936.1:c.2871G>A
ENST00000359596.8:c.14566G>A MANE Select	ENSP00000352608.2:p.Ala4856Thr
ENST00000355481.8:c.14551G>A	ENSP00000347667.3:p.Ala4851Thr
ENST00000359596.7:c.14566G>A	ENSP00000352608.2:p.Ala4856Thr
ENST00000360985.7:c.14548G>A	ENSP00000354254.4:p.Ala4850Thr
NM_000540.2:c.14566G>A , LRG_766t1:c.14566G>A	NP_000531.2:p.Ala4856Thr
NM_001042723.1:c.14551G>A	NP_001036188.1:p.Ala4851Thr
XM_006723317.1:c.14548G>A	XP_006723380.1:p.Ala4850Thr
XM_006723319.1:c.14533G>A	XP_006723382.1:p.Ala4845Thr
XM_011527204.1:c.14563G>A	XP_011525506.1:p.Ala4855Thr
XM_011527205.1:c.14479G>A	XP_011525507.1:p.Ala4827Thr
XM_006723317.2:c.14548G>A	XP_006723380.1:p.Ala4850Thr
XM_006723319.2:c.14533G>A	XP_006723382.1:p.Ala4845Thr
XM_011527205.2:c.14479G>A	XP_011525507.1:p.Ala4827Thr
NM_000540.3:c.14566G>A MANE Select	NP_000531.2:p.Ala4856Thr
NM_001042723.2:c.14551G>A	NP_001036188.1:p.Ala4851Thr