Canonical Allele Identifier: CA405673055

Gene: RYR1

Linked Data

• dbSNP Id: rs1441260819
• gnomAD v4: 19-38565359-G-A
• MyVariant Identifiers: chr19:g.39055999G>A (hg19) ; chr19:g.38565359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565359G>A , CM000681.2:g.38565359G>A	GRCh38
NC_000019.9:g.39055999G>A , CM000681.1:g.39055999G>A	GRCh37
NC_000019.8:g.43747839G>A	NCBI36
NG_008866.1:g.136660G>A , LRG_766:g.136660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1435G>A
ENST00000689936.1:c.1417G>A
ENST00000359596.8:c.13025G>A MANE Select	ENSP00000352608.2:p.Arg4342His
ENST00000355481.8:c.13010G>A	ENSP00000347667.3:p.Arg4337His
ENST00000359596.7:c.13025G>A	ENSP00000352608.2:p.Arg4342His
ENST00000360985.7:c.13007G>A	ENSP00000354254.4:p.Arg4336His
NM_000540.2:c.13025G>A , LRG_766t1:c.13025G>A	NP_000531.2:p.Arg4342His
NM_001042723.1:c.13010G>A	NP_001036188.1:p.Arg4337His
XM_006723317.1:c.13007G>A	XP_006723380.1:p.Arg4336His
XM_006723319.1:c.12992G>A	XP_006723382.1:p.Arg4331His
XM_011527204.1:c.13022G>A	XP_011525506.1:p.Arg4341His
XM_011527205.1:c.13025G>A	XP_011525507.1:p.Arg4342His
XM_006723317.2:c.13007G>A	XP_006723380.1:p.Arg4336His
XM_006723319.2:c.12992G>A	XP_006723382.1:p.Arg4331His
XM_011527205.2:c.13025G>A	XP_011525507.1:p.Arg4342His
NM_000540.3:c.13025G>A MANE Select	NP_000531.2:p.Arg4342His
NM_001042723.2:c.13010G>A	NP_001036188.1:p.Arg4337His