Canonical Allele Identifier: CA405673346

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565404-T-G
• MyVariant Identifiers: chr19:g.39056044T>G (hg19) ; chr19:g.38565404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565404T>G , CM000681.2:g.38565404T>G	GRCh38
NC_000019.9:g.39056044T>G , CM000681.1:g.39056044T>G	GRCh37
NC_000019.8:g.43747884T>G	NCBI36
NG_008866.1:g.136705T>G , LRG_766:g.136705T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.6T>G
ENST00000688602.1:c.1480T>G
ENST00000689936.1:c.1462T>G
ENST00000359596.8:c.13070T>G MANE Select	ENSP00000352608.2:p.Leu4357Arg
ENST00000355481.8:c.13055T>G	ENSP00000347667.3:p.Leu4352Arg
ENST00000359596.7:c.13070T>G	ENSP00000352608.2:p.Leu4357Arg
ENST00000360985.7:c.13052T>G	ENSP00000354254.4:p.Leu4351Arg
NM_000540.2:c.13070T>G , LRG_766t1:c.13070T>G	NP_000531.2:p.Leu4357Arg
NM_001042723.1:c.13055T>G	NP_001036188.1:p.Leu4352Arg
XM_006723317.1:c.13052T>G	XP_006723380.1:p.Leu4351Arg
XM_006723319.1:c.13037T>G	XP_006723382.1:p.Leu4346Arg
XM_011527204.1:c.13067T>G	XP_011525506.1:p.Leu4356Arg
XM_011527205.1:c.13070T>G	XP_011525507.1:p.Leu4357Arg
XM_006723317.2:c.13052T>G	XP_006723380.1:p.Leu4351Arg
XM_006723319.2:c.13037T>G	XP_006723382.1:p.Leu4346Arg
XM_011527205.2:c.13070T>G	XP_011525507.1:p.Leu4357Arg
NM_000540.3:c.13070T>G MANE Select	NP_000531.2:p.Leu4357Arg
NM_001042723.2:c.13055T>G	NP_001036188.1:p.Leu4352Arg