Canonical Allele Identifier: CA633066746

Gene: RYR1

Linked Data

• dbSNP Id: rs1364930895
• gnomAD v2: 19-39033975-T-TC
• gnomAD v4: 19-38543335-T-TC
• MyVariant Identifiers: chr19:g.39033975_39033976insC (hg19) ; chr19:g.38543335_38543336insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543336dup , CM000681.2:g.38543336dup	GRCh38
NC_000019.9:g.39033976dup , CM000681.1:g.39033976dup	GRCh37
NC_000019.8:g.43725816dup	NCBI36
NG_008866.1:g.114637dup , LRG_766:g.114637dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.100-11dup
ENST00000689936.1:c.82-11dup
ENST00000359596.8:c.11690-11dup MANE Select	ENSP00000352608.2:n.11690-11dup
ENST00000355481.8:c.11675-11dup	ENSP00000347667.3:n.11675-11dup
ENST00000359596.7:c.11690-11dup	ENSP00000352608.2:n.11690-11dup
ENST00000360985.7:c.11672-11dup	ENSP00000354254.4:n.11672-11dup
ENST00000593322.1:c.299-11dup
ENST00000594335.5:c.5059-11dup
NM_000540.2:c.11690-11dup , LRG_766t1:c.11690-11dup	NP_000531.2:n.11690-11dup
NM_001042723.1:c.11675-11dup	NP_001036188.1:n.11675-11dup
XM_006723317.1:c.11672-11dup	XP_006723380.1:n.11672-11dup
XM_006723319.1:c.11657-11dup	XP_006723382.1:n.11657-11dup
XM_011527204.1:c.11687-11dup	XP_011525506.1:n.11687-11dup
XM_011527205.1:c.11690-11dup	XP_011525507.1:n.11690-11dup
XM_006723317.2:c.11672-11dup	XP_006723380.1:n.11672-11dup
XM_006723319.2:c.11657-11dup	XP_006723382.1:n.11657-11dup
XM_011527205.2:c.11690-11dup	XP_011525507.1:n.11690-11dup
NM_000540.3:c.11690-11dup MANE Select	NP_000531.2:n.11690-11dup
NM_001042723.2:c.11675-11dup	NP_001036188.1:n.11675-11dup