Canonical Allele Identifier: CA024262

Gene: RYR1

Linked Data

• ClinVar Variation Id: 201153
• ClinVar RCV Id: RCV000182612
• dbSNP Id: rs760010175
• ExAC: 19:39076589 G / A
• gnomAD v2: 19-39076589-G-A
• gnomAD v4: 19-38585949-G-A
• MyVariant Identifiers: chr19:g.39076589G>A (hg19) ; chr19:g.38585949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585949G>A , CM000681.2:g.38585949G>A	GRCh38
NC_000019.9:g.39076589G>A , CM000681.1:g.39076589G>A	GRCh37
NC_000019.8:g.43768429G>A	NCBI36
NG_008866.1:g.157250G>A , LRG_766:g.157250G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1751G>A
ENST00000688602.1:c.3148G>A
ENST00000689936.1:c.3120G>A
ENST00000692547.1:n.208G>A
ENST00000359596.8:c.14815G>A MANE Select	ENSP00000352608.2:p.Asp4939Asn
ENST00000355481.8:c.14800G>A	ENSP00000347667.3:p.Asp4934Asn
ENST00000359596.7:c.14815G>A	ENSP00000352608.2:p.Asp4939Asn
ENST00000360985.7:c.14797G>A	ENSP00000354254.4:p.Asp4933Asn
NM_000540.2:c.14815G>A , LRG_766t1:c.14815G>A	NP_000531.2:p.Asp4939Asn
NM_001042723.1:c.14800G>A	NP_001036188.1:p.Asp4934Asn
XM_006723317.1:c.14797G>A	XP_006723380.1:p.Asp4933Asn
XM_006723319.1:c.14782G>A	XP_006723382.1:p.Asp4928Asn
XM_011527204.1:c.14812G>A	XP_011525506.1:p.Asp4938Asn
XM_011527205.1:c.14728G>A	XP_011525507.1:p.Asp4910Asn
XM_006723317.2:c.14797G>A	XP_006723380.1:p.Asp4933Asn
XM_006723319.2:c.14782G>A	XP_006723382.1:p.Asp4928Asn
XM_011527205.2:c.14728G>A	XP_011525507.1:p.Asp4910Asn
NM_000540.3:c.14815G>A MANE Select	NP_000531.2:p.Asp4939Asn
NM_001042723.2:c.14800G>A	NP_001036188.1:p.Asp4934Asn