Canonical Allele Identifier: CA633066387

Gene: RYR1

Linked Data

• dbSNP Id: rs1283800467
• gnomAD v2: 19-39009805-C-G
• gnomAD v4: 19-38519165-C-G
• MyVariant Identifiers: chr19:g.39009805C>G (hg19) ; chr19:g.38519165C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38519165C>G , CM000681.2:g.38519165C>G	GRCh38
NC_000019.9:g.39009805C>G , CM000681.1:g.39009805C>G	GRCh37
NC_000019.8:g.43701645C>G	NCBI36
NG_008866.1:g.90466C>G , LRG_766:g.90466C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9958-49C>G	ENSP00000471601.2:n.9958-49C>G
ENST00000359596.8:c.10019-49C>G MANE Select	ENSP00000352608.2:n.10019-49C>G
ENST00000355481.8:c.10019-49C>G	ENSP00000347667.3:n.10019-49C>G
ENST00000359596.7:c.10019-49C>G	ENSP00000352608.2:n.10019-49C>G
ENST00000360985.7:c.10016-49C>G	ENSP00000354254.4:n.10016-49C>G
ENST00000594335.5:c.3421-49C>G
ENST00000599547.5:c.826-49C>G
NM_000540.2:c.10019-49C>G , LRG_766t1:c.10019-49C>G	NP_000531.2:n.10019-49C>G
NM_001042723.1:c.10019-49C>G	NP_001036188.1:n.10019-49C>G
XM_006723317.1:c.10019-49C>G	XP_006723380.1:n.10019-49C>G
XM_006723319.1:c.10019-49C>G	XP_006723382.1:n.10019-49C>G
XM_011527204.1:c.10016-49C>G	XP_011525506.1:n.10016-49C>G
XM_011527205.1:c.10019-49C>G	XP_011525507.1:n.10019-49C>G
XM_006723317.2:c.10019-49C>G	XP_006723380.1:n.10019-49C>G
XM_006723319.2:c.10019-49C>G	XP_006723382.1:n.10019-49C>G
XM_011527205.2:c.10019-49C>G	XP_011525507.1:n.10019-49C>G
NM_000540.3:c.10019-49C>G MANE Select	NP_000531.2:n.10019-49C>G
NM_001042723.2:c.10019-49C>G	NP_001036188.1:n.10019-49C>G