Canonical Allele Identifier: CA405688115

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580494-A-G
• COSMIC: COSM1736062
• MyVariant Identifiers: chr19:g.39071134A>G (hg19) ; chr19:g.38580494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580494A>G , CM000681.2:g.38580494A>G	GRCh38
NC_000019.9:g.39071134A>G , CM000681.1:g.39071134A>G	GRCh37
NC_000019.8:g.43762974A>G	NCBI36
NG_008866.1:g.151795A>G , LRG_766:g.151795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1572A>G
ENST00000688602.1:c.2969A>G
ENST00000689936.1:c.2941A>G
ENST00000359596.8:c.14636A>G MANE Select	ENSP00000352608.2:p.Asp4879Gly
ENST00000355481.8:c.14621A>G	ENSP00000347667.3:p.Asp4874Gly
ENST00000359596.7:c.14636A>G	ENSP00000352608.2:p.Asp4879Gly
ENST00000360985.7:c.14618A>G	ENSP00000354254.4:p.Asp4873Gly
NM_000540.2:c.14636A>G , LRG_766t1:c.14636A>G	NP_000531.2:p.Asp4879Gly
NM_001042723.1:c.14621A>G	NP_001036188.1:p.Asp4874Gly
XM_006723317.1:c.14618A>G	XP_006723380.1:p.Asp4873Gly
XM_006723319.1:c.14603A>G	XP_006723382.1:p.Asp4868Gly
XM_011527204.1:c.14633A>G	XP_011525506.1:p.Asp4878Gly
XM_011527205.1:c.14549A>G	XP_011525507.1:p.Asp4850Gly
XM_006723317.2:c.14618A>G	XP_006723380.1:p.Asp4873Gly
XM_006723319.2:c.14603A>G	XP_006723382.1:p.Asp4868Gly
XM_011527205.2:c.14549A>G	XP_011525507.1:p.Asp4850Gly
NM_000540.3:c.14636A>G MANE Select	NP_000531.2:p.Asp4879Gly
NM_001042723.2:c.14621A>G	NP_001036188.1:p.Asp4874Gly