Canonical Allele Identifier: CA2584909147

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565386-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565388dup , CM000681.2:g.38565388dup	GRCh38
NC_000019.9:g.39056028dup , CM000681.1:g.39056028dup	GRCh37
NC_000019.8:g.43747868dup	NCBI36
NG_008866.1:g.136689dup , LRG_766:g.136689dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1464dup
ENST00000689936.1:c.1446dup
ENST00000359596.8:c.13054dup MANE Select	ENSP00000352608.2:p.Ala4352GlyfsTer?
ENST00000355481.8:c.13039dup	ENSP00000347667.3:p.Ala4347GlyfsTer?
ENST00000359596.7:c.13054dup	ENSP00000352608.2:p.Ala4352GlyfsTer?
ENST00000360985.7:c.13036dup	ENSP00000354254.4:p.Ala4346GlyfsTer?
NM_000540.2:c.13054dup , LRG_766t1:c.13054dup	NP_000531.2:p.Ala4352GlyfsTer?
NM_001042723.1:c.13039dup	NP_001036188.1:p.Ala4347GlyfsTer?
XM_006723317.1:c.13036dup	XP_006723380.1:p.Ala4346GlyfsTer?
XM_006723319.1:c.13021dup	XP_006723382.1:p.Ala4341GlyfsTer?
XM_011527204.1:c.13051dup	XP_011525506.1:p.Ala4351GlyfsTer?
XM_011527205.1:c.13054dup	XP_011525507.1:p.Ala4352GlyfsTer?
XM_006723317.2:c.13036dup	XP_006723380.1:p.Ala4346GlyfsTer?
XM_006723319.2:c.13021dup	XP_006723382.1:p.Ala4341GlyfsTer?
XM_011527205.2:c.13054dup	XP_011525507.1:p.Ala4352GlyfsTer?
NM_000540.3:c.13054dup MANE Select	NP_000531.2:p.Ala4352GlyfsTer?
NM_001042723.2:c.13039dup	NP_001036188.1:p.Ala4347GlyfsTer?