Canonical Allele Identifier: CA507238454

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2894155
• ClinVar RCV Id: RCV003756771
• gnomAD v4: 19-38485650-C-G
• COSMIC: COSM1158807
• MyVariant Identifiers: chr19:g.38976290C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38485650C>G , CM000681.2:g.38485650C>G	GRCh38
NC_000019.9:g.38976290C>G , CM000681.1:g.38976290C>G	GRCh37
NC_000019.8:g.43668130C>G	NCBI36
NG_008866.1:g.56951C>G , LRG_766:g.56951C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.4995C>G	ENSP00000471601.2:p.Thr1665=
ENST00000359596.8:c.4995C>G MANE Select	ENSP00000352608.2:p.Thr1665=
ENST00000355481.8:c.4995C>G	ENSP00000347667.3:p.Thr1665=
ENST00000359596.7:c.4995C>G	ENSP00000352608.2:p.Thr1665=
ENST00000360985.7:c.4992C>G	ENSP00000354254.4:p.Thr1664=
NM_000540.2:c.4995C>G , LRG_766t1:c.4995C>G	NP_000531.2:p.Thr1665=
NM_001042723.1:c.4995C>G	NP_001036188.1:p.Thr1665=
XM_006723317.1:c.4995C>G	XP_006723380.1:p.Thr1665=
XM_006723319.1:c.4995C>G	XP_006723382.1:p.Thr1665=
XM_011527204.1:c.4992C>G	XP_011525506.1:p.Thr1664=
XM_011527205.1:c.4995C>G	XP_011525507.1:p.Thr1665=
XM_006723317.2:c.4995C>G	XP_006723380.1:p.Thr1665=
XM_006723319.2:c.4995C>G	XP_006723382.1:p.Thr1665=
XM_011527205.2:c.4995C>G	XP_011525507.1:p.Thr1665=
XR_001753735.1:n.5078C>G
NM_000540.3:c.4995C>G MANE Select	NP_000531.2:p.Thr1665=
NM_001042723.2:c.4995C>G	NP_001036188.1:p.Thr1665=