Canonical Allele Identifier: CA405669982

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435538
• ClinVar RCV Id: RCV003130443
• MyVariant Identifiers: chr19:g.39052092C>G (hg19) ; chr19:g.38561452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561452C>G , CM000681.2:g.38561452C>G	GRCh38
NC_000019.9:g.39052092C>G , CM000681.1:g.39052092C>G	GRCh37
NC_000019.8:g.43743932C>G	NCBI36
NG_008866.1:g.132753C>G , LRG_766:g.132753C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1032C>G
ENST00000689936.1:c.1014C>G
ENST00000359596.8:c.12622C>G MANE Select	ENSP00000352608.2:p.Gln4208Glu
ENST00000355481.8:c.12607C>G	ENSP00000347667.3:p.Gln4203Glu
ENST00000359596.7:c.12622C>G	ENSP00000352608.2:p.Gln4208Glu
ENST00000360985.7:c.12604C>G	ENSP00000354254.4:p.Gln4202Glu
ENST00000594335.5:c.5991C>G
NM_000540.2:c.12622C>G , LRG_766t1:c.12622C>G	NP_000531.2:p.Gln4208Glu
NM_001042723.1:c.12607C>G	NP_001036188.1:p.Gln4203Glu
XM_006723317.1:c.12604C>G	XP_006723380.1:p.Gln4202Glu
XM_006723319.1:c.12589C>G	XP_006723382.1:p.Gln4197Glu
XM_011527204.1:c.12619C>G	XP_011525506.1:p.Gln4207Glu
XM_011527205.1:c.12622C>G	XP_011525507.1:p.Gln4208Glu
XM_006723317.2:c.12604C>G	XP_006723380.1:p.Gln4202Glu
XM_006723319.2:c.12589C>G	XP_006723382.1:p.Gln4197Glu
XM_011527205.2:c.12622C>G	XP_011525507.1:p.Gln4208Glu
NM_000540.3:c.12622C>G MANE Select	NP_000531.2:p.Gln4208Glu
NM_001042723.2:c.12607C>G	NP_001036188.1:p.Gln4203Glu