Canonical Allele Identifier: CA067726

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329044
• ClinVar RCV Id: RCV000267358 ; RCV000322444 ; RCV000371454 ; RCV000377017 ; RCV000547971
• dbSNP Id: rs201310026
• ExAC: 19:38981323 G / A
• gnomAD v2: 19-38981323-G-A
• gnomAD v3: 19-38490683-G-A
• gnomAD v4: 19-38490683-G-A
• MyVariant Identifiers: chr19:g.38981323G>A (hg19) ; chr19:g.38490683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38490683G>A , CM000681.2:g.38490683G>A	GRCh38
NC_000019.9:g.38981323G>A , CM000681.1:g.38981323G>A	GRCh37
NC_000019.8:g.43673163G>A	NCBI36
NG_008866.1:g.61984G>A , LRG_766:g.61984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6078G>A	ENSP00000471601.2:p.Glu2026=
ENST00000359596.8:c.6078G>A MANE Select	ENSP00000352608.2:p.Glu2026=
ENST00000355481.8:c.6078G>A	ENSP00000347667.3:p.Glu2026=
ENST00000359596.7:c.6078G>A	ENSP00000352608.2:p.Glu2026=
ENST00000360985.7:c.6075G>A	ENSP00000354254.4:p.Glu2025=
NM_000540.2:c.6078G>A , LRG_766t1:c.6078G>A	NP_000531.2:p.Glu2026=
NM_001042723.1:c.6078G>A	NP_001036188.1:p.Glu2026=
XM_006723317.1:c.6078G>A	XP_006723380.1:p.Glu2026=
XM_006723319.1:c.6078G>A	XP_006723382.1:p.Glu2026=
XM_011527204.1:c.6075G>A	XP_011525506.1:p.Glu2025=
XM_011527205.1:c.6078G>A	XP_011525507.1:p.Glu2026=
XM_006723317.2:c.6078G>A	XP_006723380.1:p.Glu2026=
XM_006723319.2:c.6078G>A	XP_006723382.1:p.Glu2026=
XM_011527205.2:c.6078G>A	XP_011525507.1:p.Glu2026=
XR_001753735.1:n.6161G>A
NM_000540.3:c.6078G>A MANE Select	NP_000531.2:p.Glu2026=
NM_001042723.2:c.6078G>A	NP_001036188.1:p.Glu2026=