Canonical Allele Identifier: CA308127322

Gene: RYR1

Linked Data

• dbSNP Id: rs550143988
• gnomAD v3: 19-38587173-C-G
• gnomAD v4: 19-38587173-C-G
• MyVariant Identifiers: chr19:g.39077813C>G (hg19) ; chr19:g.38587173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587173C>G , CM000681.2:g.38587173C>G	GRCh38
NC_000019.9:g.39077813C>G , CM000681.1:g.39077813C>G	GRCh37
NC_000019.8:g.43769653C>G	NCBI36
NG_008866.1:g.158474C>G , LRG_766:g.158474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+597C>G
ENST00000688602.1:c.3355-152C>G
ENST00000689936.1:c.3327-152C>G
ENST00000692547.1:n.415-152C>G
ENST00000359596.8:c.15022-152C>G MANE Select	ENSP00000352608.2:n.15022-152C>G
ENST00000355481.8:c.15007-152C>G	ENSP00000347667.3:n.15007-152C>G
ENST00000359596.7:c.15022-152C>G	ENSP00000352608.2:n.15022-152C>G
ENST00000360985.7:c.15004-152C>G	ENSP00000354254.4:n.15004-152C>G
NM_000540.2:c.15022-152C>G , LRG_766t1:c.15022-152C>G	NP_000531.2:n.15022-152C>G
NM_001042723.1:c.15007-152C>G	NP_001036188.1:n.15007-152C>G
XM_006723317.1:c.15004-152C>G	XP_006723380.1:n.15004-152C>G
XM_006723319.1:c.14989-152C>G	XP_006723382.1:n.14989-152C>G
XM_011527204.1:c.15019-152C>G	XP_011525506.1:n.15019-152C>G
XM_011527205.1:c.14935-152C>G	XP_011525507.1:n.14935-152C>G
XM_006723317.2:c.15004-152C>G	XP_006723380.1:n.15004-152C>G
XM_006723319.2:c.14989-152C>G	XP_006723382.1:n.14989-152C>G
XM_011527205.2:c.14935-152C>G	XP_011525507.1:n.14935-152C>G
NM_000540.3:c.15022-152C>G MANE Select	NP_000531.2:n.15022-152C>G
NM_001042723.2:c.15007-152C>G	NP_001036188.1:n.15007-152C>G