Canonical Allele Identifier: CA2584894404

Gene: RYR1

Linked Data

• gnomAD v4: 19-38457766-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457766_38457767insT , CM000681.2:g.38457766_38457767insT	GRCh38
NC_000019.9:g.38948406_38948407insT , CM000681.1:g.38948406_38948407insT	GRCh37
NC_000019.8:g.43640246_43640247insT	NCBI36
NG_008866.1:g.29067_29068insT , LRG_766:g.29067_29068insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1925+136_1925+137insT	ENSP00000471601.2:n.1925+136_1925+137insT
ENST00000359596.8:c.1925+136_1925+137insT MANE Select	ENSP00000352608.2:n.1925+136_1925+137insT
ENST00000355481.8:c.1925+136_1925+137insT	ENSP00000347667.3:n.1925+136_1925+137insT
ENST00000359596.7:c.1925+136_1925+137insT	ENSP00000352608.2:n.1925+136_1925+137insT
ENST00000360985.7:c.1925+136_1925+137insT	ENSP00000354254.4:n.1925+136_1925+137insT
NM_000540.2:c.1925+136_1925+137insT , LRG_766t1:c.1925+136_1925+137insT	NP_000531.2:n.1925+136_1925+137insT
NM_001042723.1:c.1925+136_1925+137insT	NP_001036188.1:n.1925+136_1925+137insT
XM_006723317.1:c.1925+136_1925+137insT	XP_006723380.1:n.1925+136_1925+137insT
XM_006723319.1:c.1925+136_1925+137insT	XP_006723382.1:n.1925+136_1925+137insT
XM_011527204.1:c.1922+136_1922+137insT	XP_011525506.1:n.1922+136_1922+137insT
XM_011527205.1:c.1925+136_1925+137insT	XP_011525507.1:n.1925+136_1925+137insT
XM_006723317.2:c.1925+136_1925+137insT	XP_006723380.1:n.1925+136_1925+137insT
XM_006723319.2:c.1925+136_1925+137insT	XP_006723382.1:n.1925+136_1925+137insT
XM_011527205.2:c.1925+136_1925+137insT	XP_011525507.1:n.1925+136_1925+137insT
XR_001753735.1:n.2008+136_2008+137insT
NM_000540.3:c.1925+136_1925+137insT MANE Select	NP_000531.2:n.1925+136_1925+137insT
NM_001042723.2:c.1925+136_1925+137insT	NP_001036188.1:n.1925+136_1925+137insT