Canonical Allele Identifier: CA405680508

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435549
• ClinVar RCV Id: RCV003135844
• dbSNP Id: rs1308486562
• gnomAD v2: 19-39062741-C-G
• gnomAD v3: 19-38572101-C-G
• gnomAD v4: 19-38572101-C-G
• MyVariant Identifiers: chr19:g.39062741C>G (hg19) ; chr19:g.38572101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572101C>G , CM000681.2:g.38572101C>G	GRCh38
NC_000019.9:g.39062741C>G , CM000681.1:g.39062741C>G	GRCh37
NC_000019.8:g.43754581C>G	NCBI36
NG_008866.1:g.143402C>G , LRG_766:g.143402C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.765C>G
ENST00000688602.1:c.2162C>G
ENST00000689936.1:c.2134C>G
ENST00000359596.8:c.13829C>G MANE Select	ENSP00000352608.2:p.Ser4610Cys
ENST00000355481.8:c.13814C>G	ENSP00000347667.3:p.Ser4605Cys
ENST00000359596.7:c.13829C>G	ENSP00000352608.2:p.Ser4610Cys
ENST00000360985.7:c.13811C>G	ENSP00000354254.4:p.Ser4604Cys
ENST00000593677.1:c.289C>G
NM_000540.2:c.13829C>G , LRG_766t1:c.13829C>G	NP_000531.2:p.Ser4610Cys
NM_001042723.1:c.13814C>G	NP_001036188.1:p.Ser4605Cys
XM_006723317.1:c.13811C>G	XP_006723380.1:p.Ser4604Cys
XM_006723319.1:c.13796C>G	XP_006723382.1:p.Ser4599Cys
XM_011527204.1:c.13826C>G	XP_011525506.1:p.Ser4609Cys
XM_011527205.1:c.13742C>G	XP_011525507.1:p.Ser4581Cys
XM_006723317.2:c.13811C>G	XP_006723380.1:p.Ser4604Cys
XM_006723319.2:c.13796C>G	XP_006723382.1:p.Ser4599Cys
XM_011527205.2:c.13742C>G	XP_011525507.1:p.Ser4581Cys
NM_000540.3:c.13829C>G MANE Select	NP_000531.2:p.Ser4610Cys
NM_001042723.2:c.13814C>G	NP_001036188.1:p.Ser4605Cys