Canonical Allele Identifier: CA060779

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3023535
• ClinVar RCV Id: RCV003882721
• dbSNP Id: rs753385586
• ExAC: 19:39063858 G / A
• gnomAD v2: 19-39063858-G-A
• gnomAD v4: 19-38573218-G-A
• MyVariant Identifiers: chr19:g.39063858G>A (hg19) ; chr19:g.38573218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573218G>A , CM000681.2:g.38573218G>A	GRCh38
NC_000019.9:g.39063858G>A , CM000681.1:g.39063858G>A	GRCh37
NC_000019.8:g.43755698G>A	NCBI36
NG_008866.1:g.144519G>A , LRG_766:g.144519G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.976G>A
ENST00000688602.1:c.2373G>A
ENST00000689936.1:c.2345G>A
ENST00000359596.8:c.14040G>A MANE Select	ENSP00000352608.2:p.Arg4680=
ENST00000355481.8:c.14025G>A	ENSP00000347667.3:p.Arg4675=
ENST00000359596.7:c.14040G>A	ENSP00000352608.2:p.Arg4680=
ENST00000360985.7:c.14022G>A	ENSP00000354254.4:p.Arg4674=
NM_000540.2:c.14040G>A , LRG_766t1:c.14040G>A	NP_000531.2:p.Arg4680=
NM_001042723.1:c.14025G>A	NP_001036188.1:p.Arg4675=
XM_006723317.1:c.14022G>A	XP_006723380.1:p.Arg4674=
XM_006723319.1:c.14007G>A	XP_006723382.1:p.Arg4669=
XM_011527204.1:c.14037G>A	XP_011525506.1:p.Arg4679=
XM_011527205.1:c.13953G>A	XP_011525507.1:p.Arg4651=
XM_006723317.2:c.14022G>A	XP_006723380.1:p.Arg4674=
XM_006723319.2:c.14007G>A	XP_006723382.1:p.Arg4669=
XM_011527205.2:c.13953G>A	XP_011525507.1:p.Arg4651=
NM_000540.3:c.14040G>A MANE Select	NP_000531.2:p.Arg4680=
NM_001042723.2:c.14025G>A	NP_001036188.1:p.Arg4675=