Canonical Allele Identifier: CA405674525

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435507
• ClinVar RCV Id: RCV003135820
• dbSNP Id: rs1424972002
• gnomAD v3: 19-38565569-C-G
• gnomAD v4: 19-38565569-C-G
• MyVariant Identifiers: chr19:g.39056209C>G (hg19) ; chr19:g.38565569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565569C>G , CM000681.2:g.38565569C>G	GRCh38
NC_000019.9:g.39056209C>G , CM000681.1:g.39056209C>G	GRCh37
NC_000019.8:g.43748049C>G	NCBI36
NG_008866.1:g.136870C>G , LRG_766:g.136870C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.171C>G
ENST00000688602.1:c.1645C>G
ENST00000689936.1:c.1627C>G
ENST00000359596.8:c.13235C>G MANE Select	ENSP00000352608.2:p.Ala4412Gly
ENST00000355481.8:c.13220C>G	ENSP00000347667.3:p.Ala4407Gly
ENST00000359596.7:c.13235C>G	ENSP00000352608.2:p.Ala4412Gly
ENST00000360985.7:c.13217C>G	ENSP00000354254.4:p.Ala4406Gly
NM_000540.2:c.13235C>G , LRG_766t1:c.13235C>G	NP_000531.2:p.Ala4412Gly
NM_001042723.1:c.13220C>G	NP_001036188.1:p.Ala4407Gly
XM_006723317.1:c.13217C>G	XP_006723380.1:p.Ala4406Gly
XM_006723319.1:c.13202C>G	XP_006723382.1:p.Ala4401Gly
XM_011527204.1:c.13232C>G	XP_011525506.1:p.Ala4411Gly
XM_011527205.1:c.13235C>G	XP_011525507.1:p.Ala4412Gly
XM_006723317.2:c.13217C>G	XP_006723380.1:p.Ala4406Gly
XM_006723319.2:c.13202C>G	XP_006723382.1:p.Ala4401Gly
XM_011527205.2:c.13235C>G	XP_011525507.1:p.Ala4412Gly
NM_000540.3:c.13235C>G MANE Select	NP_000531.2:p.Ala4412Gly
NM_001042723.2:c.13220C>G	NP_001036188.1:p.Ala4407Gly