Canonical Allele Identifier: CA059643

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1419953
• ClinVar RCV Id: RCV001910743
• dbSNP Id: rs775571885
• ExAC: 19:39056185 A / ACGGCGAGGGTGC
• gnomAD v2: 19-39056185-A-ACGGCGAGGGTGC
• gnomAD v3: 19-38565545-A-ACGGCGAGGGTGC
• gnomAD v4: 19-38565545-A-ACGGCGAGGGTGC
• MyVariant Identifiers: chr19:g.39056185_39056186insCGGCGAGGGTGC (hg19) ; chr19:g.38565545_38565546insCGGCGAGGGTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565547_38565558dup , CM000681.2:g.38565547_38565558dup	GRCh38
NC_000019.9:g.39056187_39056198dup , CM000681.1:g.39056187_39056198dup	GRCh37
NC_000019.8:g.43748027_43748038dup	NCBI36
NG_008866.1:g.136848_136859dup , LRG_766:g.136848_136859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.149_160dup
ENST00000688602.1:c.1623_1634dup
ENST00000689936.1:c.1605_1616dup
ENST00000359596.8:c.13213_13224dup MANE Select	ENSP00000352608.2:p.Ala4408_Ser4409insGlyGluGlyAla
ENST00000355481.8:c.13198_13209dup	ENSP00000347667.3:p.Ala4403_Ser4404insGlyGluGlyAla
ENST00000359596.7:c.13213_13224dup	ENSP00000352608.2:p.Ala4408_Ser4409insGlyGluGlyAla
ENST00000360985.7:c.13195_13206dup	ENSP00000354254.4:p.Ala4402_Ser4403insGlyGluGlyAla
NM_000540.2:c.13213_13224dup , LRG_766t1:c.13213_13224dup	NP_000531.2:p.Ala4408_Ser4409insGlyGluGlyAla
NM_001042723.1:c.13198_13209dup	NP_001036188.1:p.Ala4403_Ser4404insGlyGluGlyAla
XM_006723317.1:c.13195_13206dup	XP_006723380.1:p.Ala4402_Ser4403insGlyGluGlyAla
XM_006723319.1:c.13180_13191dup	XP_006723382.1:p.Ala4397_Ser4398insGlyGluGlyAla
XM_011527204.1:c.13210_13221dup	XP_011525506.1:p.Ala4407_Ser4408insGlyGluGlyAla
XM_011527205.1:c.13213_13224dup	XP_011525507.1:p.Ala4408_Ser4409insGlyGluGlyAla
XM_006723317.2:c.13195_13206dup	XP_006723380.1:p.Ala4402_Ser4403insGlyGluGlyAla
XM_006723319.2:c.13180_13191dup	XP_006723382.1:p.Ala4397_Ser4398insGlyGluGlyAla
XM_011527205.2:c.13213_13224dup	XP_011525507.1:p.Ala4408_Ser4409insGlyGluGlyAla
NM_000540.3:c.13213_13224dup MANE Select	NP_000531.2:p.Ala4408_Ser4409insGlyGluGlyAla
NM_001042723.2:c.13198_13209dup	NP_001036188.1:p.Ala4403_Ser4404insGlyGluGlyAla