Canonical Allele Identifier: CA405662737

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3071505
• ClinVar RCV Id: RCV004015999
• COSMIC: COSM2154937
• MyVariant Identifiers: chr19:g.39034424G>A (hg19) ; chr19:g.38543784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543784G>A , CM000681.2:g.38543784G>A	GRCh38
NC_000019.9:g.39034424G>A , CM000681.1:g.39034424G>A	GRCh37
NC_000019.8:g.43726264G>A	NCBI36
NG_008866.1:g.115085G>A , LRG_766:g.115085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.331G>A
ENST00000689936.1:c.313G>A
ENST00000359596.8:c.11921G>A MANE Select	ENSP00000352608.2:p.Gly3974Glu
ENST00000355481.8:c.11906G>A	ENSP00000347667.3:p.Gly3969Glu
ENST00000359596.7:c.11921G>A	ENSP00000352608.2:p.Gly3974Glu
ENST00000360985.7:c.11903G>A	ENSP00000354254.4:p.Gly3968Glu
ENST00000593322.1:c.530G>A
ENST00000594335.5:c.5290G>A
NM_000540.2:c.11921G>A , LRG_766t1:c.11921G>A	NP_000531.2:p.Gly3974Glu
NM_001042723.1:c.11906G>A	NP_001036188.1:p.Gly3969Glu
XM_006723317.1:c.11903G>A	XP_006723380.1:p.Gly3968Glu
XM_006723319.1:c.11888G>A	XP_006723382.1:p.Gly3963Glu
XM_011527204.1:c.11918G>A	XP_011525506.1:p.Gly3973Glu
XM_011527205.1:c.11921G>A	XP_011525507.1:p.Gly3974Glu
XM_006723317.2:c.11903G>A	XP_006723380.1:p.Gly3968Glu
XM_006723319.2:c.11888G>A	XP_006723382.1:p.Gly3963Glu
XM_011527205.2:c.11921G>A	XP_011525507.1:p.Gly3974Glu
NM_000540.3:c.11921G>A MANE Select	NP_000531.2:p.Gly3974Glu
NM_001042723.2:c.11906G>A	NP_001036188.1:p.Gly3969Glu