Canonical Allele Identifier: CA2584897931

Gene: RYR1

Linked Data

• gnomAD v4: 19-38485483-G-GAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38485487_38485490dup , CM000681.2:g.38485487_38485490dup	GRCh38
NC_000019.9:g.38976127_38976130dup , CM000681.1:g.38976127_38976130dup	GRCh37
NC_000019.8:g.43667967_43667970dup	NCBI36
NG_008866.1:g.56788_56791dup , LRG_766:g.56788_56791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.4935-103_4935-100dup	ENSP00000471601.2:n.4935-103_4935-100dup
ENST00000359596.8:c.4935-103_4935-100dup MANE Select	ENSP00000352608.2:n.4935-103_4935-100dup
ENST00000355481.8:c.4935-103_4935-100dup	ENSP00000347667.3:n.4935-103_4935-100dup
ENST00000359596.7:c.4935-103_4935-100dup	ENSP00000352608.2:n.4935-103_4935-100dup
ENST00000360985.7:c.4932-103_4932-100dup	ENSP00000354254.4:n.4932-103_4932-100dup
NM_000540.2:c.4935-103_4935-100dup , LRG_766t1:c.4935-103_4935-100dup	NP_000531.2:n.4935-103_4935-100dup
NM_001042723.1:c.4935-103_4935-100dup	NP_001036188.1:n.4935-103_4935-100dup
XM_006723317.1:c.4935-103_4935-100dup	XP_006723380.1:n.4935-103_4935-100dup
XM_006723319.1:c.4935-103_4935-100dup	XP_006723382.1:n.4935-103_4935-100dup
XM_011527204.1:c.4932-103_4932-100dup	XP_011525506.1:n.4932-103_4932-100dup
XM_011527205.1:c.4935-103_4935-100dup	XP_011525507.1:n.4935-103_4935-100dup
XM_006723317.2:c.4935-103_4935-100dup	XP_006723380.1:n.4935-103_4935-100dup
XM_006723319.2:c.4935-103_4935-100dup	XP_006723382.1:n.4935-103_4935-100dup
XM_011527205.2:c.4935-103_4935-100dup	XP_011525507.1:n.4935-103_4935-100dup
XR_001753735.1:n.5018-103_5018-100dup
NM_000540.3:c.4935-103_4935-100dup MANE Select	NP_000531.2:n.4935-103_4935-100dup
NM_001042723.2:c.4935-103_4935-100dup	NP_001036188.1:n.4935-103_4935-100dup