Canonical Allele Identifier: CA061423

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329137
• ClinVar RCV Id: RCV000276585 ; RCV000334101 ; RCV000381623 ; RCV000368870 ; RCV002521226 ; RCV003317192
• dbSNP Id: rs187569997
• ExAC: 19:39071100 G / A
• gnomAD v2: 19-39071100-G-A
• gnomAD v3: 19-38580460-G-A
• gnomAD v4: 19-38580460-G-A
• MyVariant Identifiers: chr19:g.39071100G>A (hg19) ; chr19:g.38580460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580460G>A , CM000681.2:g.38580460G>A	GRCh38
NC_000019.9:g.39071100G>A , CM000681.1:g.39071100G>A	GRCh37
NC_000019.8:g.43762940G>A	NCBI36
NG_008866.1:g.151761G>A , LRG_766:g.151761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1538G>A
ENST00000688602.1:c.2935G>A
ENST00000689936.1:c.2907G>A
ENST00000359596.8:c.14602G>A MANE Select	ENSP00000352608.2:p.Glu4868Lys
ENST00000355481.8:c.14587G>A	ENSP00000347667.3:p.Glu4863Lys
ENST00000359596.7:c.14602G>A	ENSP00000352608.2:p.Glu4868Lys
ENST00000360985.7:c.14584G>A	ENSP00000354254.4:p.Glu4862Lys
NM_000540.2:c.14602G>A , LRG_766t1:c.14602G>A	NP_000531.2:p.Glu4868Lys
NM_001042723.1:c.14587G>A	NP_001036188.1:p.Glu4863Lys
XM_006723317.1:c.14584G>A	XP_006723380.1:p.Glu4862Lys
XM_006723319.1:c.14569G>A	XP_006723382.1:p.Glu4857Lys
XM_011527204.1:c.14599G>A	XP_011525506.1:p.Glu4867Lys
XM_011527205.1:c.14515G>A	XP_011525507.1:p.Glu4839Lys
XM_006723317.2:c.14584G>A	XP_006723380.1:p.Glu4862Lys
XM_006723319.2:c.14569G>A	XP_006723382.1:p.Glu4857Lys
XM_011527205.2:c.14515G>A	XP_011525507.1:p.Glu4839Lys
NM_000540.3:c.14602G>A MANE Select	NP_000531.2:p.Glu4868Lys
NM_001042723.2:c.14587G>A	NP_001036188.1:p.Glu4863Lys