Canonical Allele Identifier: CA405690275

Gene: RYR1

Linked Data

• ClinVar Variation Id: 572559
• ClinVar RCV Id: RCV000693968
• dbSNP Id: rs1568611478
• gnomAD v4: 19-38584982-G-A
• COSMIC: COSM293977
• MyVariant Identifiers: chr19:g.39075622G>A (hg19) ; chr19:g.38584982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584982G>A , CM000681.2:g.38584982G>A	GRCh38
NC_000019.9:g.39075622G>A , CM000681.1:g.39075622G>A	GRCh37
NC_000019.8:g.43767462G>A	NCBI36
NG_008866.1:g.156283G>A , LRG_766:g.156283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1622G>A
ENST00000688602.1:c.3019G>A
ENST00000689936.1:c.2991G>A
ENST00000692547.1:n.79G>A
ENST00000359596.8:c.14686G>A MANE Select	ENSP00000352608.2:p.Gly4896Arg
ENST00000355481.8:c.14671G>A	ENSP00000347667.3:p.Gly4891Arg
ENST00000359596.7:c.14686G>A	ENSP00000352608.2:p.Gly4896Arg
ENST00000360985.7:c.14668G>A	ENSP00000354254.4:p.Gly4890Arg
NM_000540.2:c.14686G>A , LRG_766t1:c.14686G>A	NP_000531.2:p.Gly4896Arg
NM_001042723.1:c.14671G>A	NP_001036188.1:p.Gly4891Arg
XM_006723317.1:c.14668G>A	XP_006723380.1:p.Gly4890Arg
XM_006723319.1:c.14653G>A	XP_006723382.1:p.Gly4885Arg
XM_011527204.1:c.14683G>A	XP_011525506.1:p.Gly4895Arg
XM_011527205.1:c.14599G>A	XP_011525507.1:p.Gly4867Arg
XM_006723317.2:c.14668G>A	XP_006723380.1:p.Gly4890Arg
XM_006723319.2:c.14653G>A	XP_006723382.1:p.Gly4885Arg
XM_011527205.2:c.14599G>A	XP_011525507.1:p.Gly4867Arg
NM_000540.3:c.14686G>A MANE Select	NP_000531.2:p.Gly4896Arg
NM_001042723.2:c.14671G>A	NP_001036188.1:p.Gly4891Arg