Canonical Allele Identifier: CA024994

Gene: RYR1

Linked Data

• ClinVar Variation Id: 159864
• ClinVar RCV Id: RCV000147451 ; RCV000855485 ; RCV001004921 ; RCV003998165 ; RCV001036190
• dbSNP Id: rs587784379
• gnomAD v2: 19-39006751-C-G
• gnomAD v3: 19-38516111-C-G
• gnomAD v4: 19-38516111-C-G
• MyVariant Identifiers: chr19:g.39006751C>G (hg19) ; chr19:g.38516111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38516111C>G , CM000681.2:g.38516111C>G	GRCh38
NC_000019.9:g.39006751C>G , CM000681.1:g.39006751C>G	GRCh37
NC_000019.8:g.43698591C>G	NCBI36
NG_008866.1:g.87412C>G , LRG_766:g.87412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9518C>G	ENSP00000471601.2:n.9518C>G
ENST00000359596.8:c.9579C>G MANE Select	ENSP00000352608.2:p.Cys3193Trp
ENST00000355481.8:c.9579C>G	ENSP00000347667.3:p.Cys3193Trp
ENST00000359596.7:c.9579C>G	ENSP00000352608.2:p.Cys3193Trp
ENST00000360985.7:c.9576C>G	ENSP00000354254.4:p.Cys3192Trp
ENST00000594335.5:c.2981C>G
ENST00000599547.5:c.386C>G
NM_000540.2:c.9579C>G , LRG_766t1:c.9579C>G	NP_000531.2:p.Cys3193Trp
NM_001042723.1:c.9579C>G	NP_001036188.1:p.Cys3193Trp
XM_006723317.1:c.9579C>G	XP_006723380.1:p.Cys3193Trp
XM_006723319.1:c.9579C>G	XP_006723382.1:p.Cys3193Trp
XM_011527204.1:c.9576C>G	XP_011525506.1:p.Cys3192Trp
XM_011527205.1:c.9579C>G	XP_011525507.1:p.Cys3193Trp
XM_006723317.2:c.9579C>G	XP_006723380.1:p.Cys3193Trp
XM_006723319.2:c.9579C>G	XP_006723382.1:p.Cys3193Trp
XM_011527205.2:c.9579C>G	XP_011525507.1:p.Cys3193Trp
XR_001753735.1:n.9612C>G
NM_000540.3:c.9579C>G MANE Select	NP_000531.2:p.Cys3193Trp
NM_001042723.2:c.9579C>G	NP_001036188.1:p.Cys3193Trp