Canonical Allele Identifier: CA632869692

Gene: RYR1

Linked Data

• dbSNP Id: rs1382338732
• gnomAD v2: 19-39034342-T-TCCCG
• MyVariant Identifiers: chr19:g.39034342_39034343insCCCG (hg19) ; chr19:g.38543702_38543703insCCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543704_38543707dup , CM000681.2:g.38543704_38543707dup	GRCh38
NC_000019.9:g.39034344_39034347dup , CM000681.1:g.39034344_39034347dup	GRCh37
NC_000019.8:g.43726184_43726187dup	NCBI36
NG_008866.1:g.115005_115008dup , LRG_766:g.115005_115008dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.317+44_317+47dup
ENST00000689936.1:c.299+44_299+47dup
ENST00000359596.8:c.11907+44_11907+47dup MANE Select	ENSP00000352608.2:n.11907+44_11907+47dup
ENST00000355481.8:c.11892+44_11892+47dup	ENSP00000347667.3:n.11892+44_11892+47dup
ENST00000359596.7:c.11907+44_11907+47dup	ENSP00000352608.2:n.11907+44_11907+47dup
ENST00000360985.7:c.11889+44_11889+47dup	ENSP00000354254.4:n.11889+44_11889+47dup
ENST00000593322.1:c.516+44_516+47dup
ENST00000594335.5:c.5276+44_5276+47dup
NM_000540.2:c.11907+44_11907+47dup , LRG_766t1:c.11907+44_11907+47dup	NP_000531.2:n.11907+44_11907+47dup
NM_001042723.1:c.11892+44_11892+47dup	NP_001036188.1:n.11892+44_11892+47dup
XM_006723317.1:c.11889+44_11889+47dup	XP_006723380.1:n.11889+44_11889+47dup
XM_006723319.1:c.11874+44_11874+47dup	XP_006723382.1:n.11874+44_11874+47dup
XM_011527204.1:c.11904+44_11904+47dup	XP_011525506.1:n.11904+44_11904+47dup
XM_011527205.1:c.11907+44_11907+47dup	XP_011525507.1:n.11907+44_11907+47dup
XM_006723317.2:c.11889+44_11889+47dup	XP_006723380.1:n.11889+44_11889+47dup
XM_006723319.2:c.11874+44_11874+47dup	XP_006723382.1:n.11874+44_11874+47dup
XM_011527205.2:c.11907+44_11907+47dup	XP_011525507.1:n.11907+44_11907+47dup
NM_000540.3:c.11907+44_11907+47dup MANE Select	NP_000531.2:n.11907+44_11907+47dup
NM_001042723.2:c.11892+44_11892+47dup	NP_001036188.1:n.11892+44_11892+47dup