Canonical Allele Identifier: CA2584909145

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565377-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565382dup , CM000681.2:g.38565382dup	GRCh38
NC_000019.9:g.39056022dup , CM000681.1:g.39056022dup	GRCh37
NC_000019.8:g.43747862dup	NCBI36
NG_008866.1:g.136683dup , LRG_766:g.136683dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1458dup
ENST00000689936.1:c.1440dup
ENST00000359596.8:c.13048dup MANE Select	ENSP00000352608.2:p.Ala4350GlyfsTer?
ENST00000355481.8:c.13033dup	ENSP00000347667.3:p.Ala4345GlyfsTer?
ENST00000359596.7:c.13048dup	ENSP00000352608.2:p.Ala4350GlyfsTer?
ENST00000360985.7:c.13030dup	ENSP00000354254.4:p.Ala4344GlyfsTer?
NM_000540.2:c.13048dup , LRG_766t1:c.13048dup	NP_000531.2:p.Ala4350GlyfsTer?
NM_001042723.1:c.13033dup	NP_001036188.1:p.Ala4345GlyfsTer?
XM_006723317.1:c.13030dup	XP_006723380.1:p.Ala4344GlyfsTer?
XM_006723319.1:c.13015dup	XP_006723382.1:p.Ala4339GlyfsTer?
XM_011527204.1:c.13045dup	XP_011525506.1:p.Ala4349GlyfsTer?
XM_011527205.1:c.13048dup	XP_011525507.1:p.Ala4350GlyfsTer?
XM_006723317.2:c.13030dup	XP_006723380.1:p.Ala4344GlyfsTer?
XM_006723319.2:c.13015dup	XP_006723382.1:p.Ala4339GlyfsTer?
XM_011527205.2:c.13048dup	XP_011525507.1:p.Ala4350GlyfsTer?
NM_000540.3:c.13048dup MANE Select	NP_000531.2:p.Ala4350GlyfsTer?
NM_001042723.2:c.13033dup	NP_001036188.1:p.Ala4345GlyfsTer?