Canonical Allele Identifier: CA405674465

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1395905
• ClinVar RCV Id: RCV001887299 ; RCV003365521
• dbSNP Id: rs1211340506
• gnomAD v2: 19-39056199-A-G
• gnomAD v3: 19-38565559-A-G
• gnomAD v4: 19-38565559-A-G
• MyVariant Identifiers: chr19:g.39056199A>G (hg19) ; chr19:g.38565559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565559A>G , CM000681.2:g.38565559A>G	GRCh38
NC_000019.9:g.39056199A>G , CM000681.1:g.39056199A>G	GRCh37
NC_000019.8:g.43748039A>G	NCBI36
NG_008866.1:g.136860A>G , LRG_766:g.136860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.161A>G
ENST00000688602.1:c.1635A>G
ENST00000689936.1:c.1617A>G
ENST00000359596.8:c.13225A>G MANE Select	ENSP00000352608.2:p.Ser4409Gly
ENST00000355481.8:c.13210A>G	ENSP00000347667.3:p.Ser4404Gly
ENST00000359596.7:c.13225A>G	ENSP00000352608.2:p.Ser4409Gly
ENST00000360985.7:c.13207A>G	ENSP00000354254.4:p.Ser4403Gly
NM_000540.2:c.13225A>G , LRG_766t1:c.13225A>G	NP_000531.2:p.Ser4409Gly
NM_001042723.1:c.13210A>G	NP_001036188.1:p.Ser4404Gly
XM_006723317.1:c.13207A>G	XP_006723380.1:p.Ser4403Gly
XM_006723319.1:c.13192A>G	XP_006723382.1:p.Ser4398Gly
XM_011527204.1:c.13222A>G	XP_011525506.1:p.Ser4408Gly
XM_011527205.1:c.13225A>G	XP_011525507.1:p.Ser4409Gly
XM_006723317.2:c.13207A>G	XP_006723380.1:p.Ser4403Gly
XM_006723319.2:c.13192A>G	XP_006723382.1:p.Ser4398Gly
XM_011527205.2:c.13225A>G	XP_011525507.1:p.Ser4409Gly
NM_000540.3:c.13225A>G MANE Select	NP_000531.2:p.Ser4409Gly
NM_001042723.2:c.13210A>G	NP_001036188.1:p.Ser4404Gly