Canonical Allele Identifier: CA059236

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329116
• ClinVar RCV Id: RCV000264567 ; RCV000309307 ; RCV000359406 ; RCV000392672 ; RCV001850760
• dbSNP Id: rs548515798
• ExAC: 19:39052103 A / G
• gnomAD v2: 19-39052103-A-G
• gnomAD v3: 19-38561463-A-G
• gnomAD v4: 19-38561463-A-G
• MyVariant Identifiers: chr19:g.39052103A>G (hg19) ; chr19:g.38561463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561463A>G , CM000681.2:g.38561463A>G	GRCh38
NC_000019.9:g.39052103A>G , CM000681.1:g.39052103A>G	GRCh37
NC_000019.8:g.43743943A>G	NCBI36
NG_008866.1:g.132764A>G , LRG_766:g.132764A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1034+9A>G
ENST00000689936.1:c.1016+9A>G
ENST00000359596.8:c.12624+9A>G MANE Select	ENSP00000352608.2:n.12624+9A>G
ENST00000355481.8:c.12609+9A>G	ENSP00000347667.3:n.12609+9A>G
ENST00000359596.7:c.12624+9A>G	ENSP00000352608.2:n.12624+9A>G
ENST00000360985.7:c.12606+9A>G	ENSP00000354254.4:n.12606+9A>G
ENST00000594335.5:c.5993+9A>G
NM_000540.2:c.12624+9A>G , LRG_766t1:c.12624+9A>G	NP_000531.2:n.12624+9A>G
NM_001042723.1:c.12609+9A>G	NP_001036188.1:n.12609+9A>G
XM_006723317.1:c.12606+9A>G	XP_006723380.1:n.12606+9A>G
XM_006723319.1:c.12591+9A>G	XP_006723382.1:n.12591+9A>G
XM_011527204.1:c.12621+9A>G	XP_011525506.1:n.12621+9A>G
XM_011527205.1:c.12624+9A>G	XP_011525507.1:n.12624+9A>G
XM_006723317.2:c.12606+9A>G	XP_006723380.1:n.12606+9A>G
XM_006723319.2:c.12591+9A>G	XP_006723382.1:n.12591+9A>G
XM_011527205.2:c.12624+9A>G	XP_011525507.1:n.12624+9A>G
NM_000540.3:c.12624+9A>G MANE Select	NP_000531.2:n.12624+9A>G
NM_001042723.2:c.12609+9A>G	NP_001036188.1:n.12609+9A>G