Canonical Allele Identifier: CA995722610

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1435104
• ClinVar RCV Id: RCV001972103
• dbSNP Id: rs1972632890
• gnomAD v3: 19-38440735-G-A
• gnomAD v4: 19-38440735-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38440735G>A , CM000681.2:g.38440735G>A	GRCh38
NC_000019.9:g.38931375G>A , CM000681.1:g.38931375G>A	GRCh37
NC_000019.8:g.43623215G>A	NCBI36
NG_008866.1:g.12036G>A , LRG_766:g.12036G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.46-10G>A	ENSP00000471601.2:n.46-10G>A
ENST00000359596.8:c.46-10G>A MANE Select	ENSP00000352608.2:n.46-10G>A
ENST00000355481.8:c.46-10G>A	ENSP00000347667.3:n.46-10G>A
ENST00000359596.7:c.46-10G>A	ENSP00000352608.2:n.46-10G>A
ENST00000360985.7:c.46-10G>A	ENSP00000354254.4:n.46-10G>A
NM_000540.2:c.46-10G>A , LRG_766t1:c.46-10G>A	NP_000531.2:n.46-10G>A
NM_001042723.1:c.46-10G>A	NP_001036188.1:n.46-10G>A
XM_006723317.1:c.46-10G>A	XP_006723380.1:n.46-10G>A
XM_006723319.1:c.46-10G>A	XP_006723382.1:n.46-10G>A
XM_011527204.1:c.46-10G>A	XP_011525506.1:n.46-10G>A
XM_011527205.1:c.46-10G>A	XP_011525507.1:n.46-10G>A
XM_006723317.2:c.46-10G>A	XP_006723380.1:n.46-10G>A
XM_006723319.2:c.46-10G>A	XP_006723382.1:n.46-10G>A
XM_011527205.2:c.46-10G>A	XP_011525507.1:n.46-10G>A
XR_001753735.1:n.129-10G>A
NM_000540.3:c.46-10G>A MANE Select	NP_000531.2:n.46-10G>A
NM_001042723.2:c.46-10G>A	NP_001036188.1:n.46-10G>A