Canonical Allele Identifier: CA2584908068

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543293-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543293T>A , CM000681.2:g.38543293T>A	GRCh38
NC_000019.9:g.39033933T>A , CM000681.1:g.39033933T>A	GRCh37
NC_000019.8:g.43725773T>A	NCBI36
NG_008866.1:g.114594T>A , LRG_766:g.114594T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.100-54T>A
ENST00000689936.1:c.82-54T>A
ENST00000359596.8:c.11690-54T>A MANE Select	ENSP00000352608.2:n.11690-54T>A
ENST00000355481.8:c.11675-54T>A	ENSP00000347667.3:n.11675-54T>A
ENST00000359596.7:c.11690-54T>A	ENSP00000352608.2:n.11690-54T>A
ENST00000360985.7:c.11672-54T>A	ENSP00000354254.4:n.11672-54T>A
ENST00000593322.1:c.299-54T>A
ENST00000594335.5:c.5059-54T>A
NM_000540.2:c.11690-54T>A , LRG_766t1:c.11690-54T>A	NP_000531.2:n.11690-54T>A
NM_001042723.1:c.11675-54T>A	NP_001036188.1:n.11675-54T>A
XM_006723317.1:c.11672-54T>A	XP_006723380.1:n.11672-54T>A
XM_006723319.1:c.11657-54T>A	XP_006723382.1:n.11657-54T>A
XM_011527204.1:c.11687-54T>A	XP_011525506.1:n.11687-54T>A
XM_011527205.1:c.11690-54T>A	XP_011525507.1:n.11690-54T>A
XM_006723317.2:c.11672-54T>A	XP_006723380.1:n.11672-54T>A
XM_006723319.2:c.11657-54T>A	XP_006723382.1:n.11657-54T>A
XM_011527205.2:c.11690-54T>A	XP_011525507.1:n.11690-54T>A
NM_000540.3:c.11690-54T>A MANE Select	NP_000531.2:n.11690-54T>A
NM_001042723.2:c.11675-54T>A	NP_001036188.1:n.11675-54T>A