Canonical Allele Identifier: CA405694006

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1038239
• ClinVar RCV Id: RCV001341519
• dbSNP Id: rs1974542909
• MyVariant Identifiers: chr19:g.39077977T>A (hg19) ; chr19:g.38587337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587337T>A , CM000681.2:g.38587337T>A	GRCh38
NC_000019.9:g.39077977T>A , CM000681.1:g.39077977T>A	GRCh37
NC_000019.8:g.43769817T>A	NCBI36
NG_008866.1:g.158638T>A , LRG_766:g.158638T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+761T>A
ENST00000688602.1:c.3367T>A
ENST00000689936.1:c.3339T>A
ENST00000692547.1:n.427T>A
ENST00000359596.8:c.15034T>A MANE Select	ENSP00000352608.2:p.Trp5012Arg
ENST00000355481.8:c.15019T>A	ENSP00000347667.3:p.Trp5007Arg
ENST00000359596.7:c.15034T>A	ENSP00000352608.2:p.Trp5012Arg
ENST00000360985.7:c.15016T>A	ENSP00000354254.4:p.Trp5006Arg
NM_000540.2:c.15034T>A , LRG_766t1:c.15034T>A	NP_000531.2:p.Trp5012Arg
NM_001042723.1:c.15019T>A	NP_001036188.1:p.Trp5007Arg
XM_006723317.1:c.15016T>A	XP_006723380.1:p.Trp5006Arg
XM_006723319.1:c.15001T>A	XP_006723382.1:p.Trp5001Arg
XM_011527204.1:c.15031T>A	XP_011525506.1:p.Trp5011Arg
XM_011527205.1:c.14947T>A	XP_011525507.1:p.Trp4983Arg
XM_006723317.2:c.15016T>A	XP_006723380.1:p.Trp5006Arg
XM_006723319.2:c.15001T>A	XP_006723382.1:p.Trp5001Arg
XM_011527205.2:c.14947T>A	XP_011525507.1:p.Trp4983Arg
NM_000540.3:c.15034T>A MANE Select	NP_000531.2:p.Trp5012Arg
NM_001042723.2:c.15019T>A	NP_001036188.1:p.Trp5007Arg