Canonical Allele Identifier: CA632878475

Gene: RYR1

Linked Data

• dbSNP Id: rs1210373041
• gnomAD v2: 19-39077976-C-CT
• gnomAD v4: 19-38587336-C-CT
• MyVariant Identifiers: chr19:g.39077976_39077977insT (hg19) ; chr19:g.38587336_38587337insT (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+761dup
ENST00000688602.1:c.3367dup
ENST00000689936.1:c.3339dup
ENST00000692547.1:n.427dup
ENST00000359596.8:c.15034dup MANE Select	ENSP00000352608.2:p.Trp5012LeufsTer16
ENST00000355481.8:c.15019dup	ENSP00000347667.3:p.Trp5007LeufsTer16
ENST00000359596.7:c.15034dup	ENSP00000352608.2:p.Trp5012LeufsTer16
ENST00000360985.7:c.15016dup	ENSP00000354254.4:p.Trp5006LeufsTer16
NM_000540.2:c.15034dup , LRG_766t1:c.15034dup	NP_000531.2:p.Trp5012LeufsTer16
NM_001042723.1:c.15019dup	NP_001036188.1:p.Trp5007LeufsTer16
XM_006723317.1:c.15016dup	XP_006723380.1:p.Trp5006LeufsTer16
XM_006723319.1:c.15001dup	XP_006723382.1:p.Trp5001LeufsTer16
XM_011527204.1:c.15031dup	XP_011525506.1:p.Trp5011LeufsTer16
XM_011527205.1:c.14947dup	XP_011525507.1:p.Trp4983LeufsTer16
XM_006723317.2:c.15016dup	XP_006723380.1:p.Trp5006LeufsTer16
XM_006723319.2:c.15001dup	XP_006723382.1:p.Trp5001LeufsTer16
XM_011527205.2:c.14947dup	XP_011525507.1:p.Trp4983LeufsTer16
NM_000540.3:c.15034dup MANE Select	NP_000531.2:p.Trp5012LeufsTer16
NM_001042723.2:c.15019dup	NP_001036188.1:p.Trp5007LeufsTer16