Canonical Allele Identifier: CA2584898028

Gene: RYR1

Linked Data

• gnomAD v4: 19-38486195-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38486195_38486196insT , CM000681.2:g.38486195_38486196insT	GRCh38
NC_000019.9:g.38976835_38976836insT , CM000681.1:g.38976835_38976836insT	GRCh37
NC_000019.8:g.43668675_43668676insT	NCBI36
NG_008866.1:g.57496_57497insT , LRG_766:g.57496_57497insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.5540_5541insT	ENSP00000471601.2:p.Leu1848ProfsTer10
ENST00000359596.8:c.5540_5541insT MANE Select	ENSP00000352608.2:p.Leu1848ProfsTer10
ENST00000355481.8:c.5540_5541insT	ENSP00000347667.3:p.Leu1848ProfsTer10
ENST00000359596.7:c.5540_5541insT	ENSP00000352608.2:p.Leu1848ProfsTer10
ENST00000360985.7:c.5537_5538insT	ENSP00000354254.4:p.Leu1847ProfsTer10
NM_000540.2:c.5540_5541insT , LRG_766t1:c.5540_5541insT	NP_000531.2:p.Leu1848ProfsTer10
NM_001042723.1:c.5540_5541insT	NP_001036188.1:p.Leu1848ProfsTer10
XM_006723317.1:c.5540_5541insT	XP_006723380.1:p.Leu1848ProfsTer10
XM_006723319.1:c.5540_5541insT	XP_006723382.1:p.Leu1848ProfsTer10
XM_011527204.1:c.5537_5538insT	XP_011525506.1:p.Leu1847ProfsTer10
XM_011527205.1:c.5540_5541insT	XP_011525507.1:p.Leu1848ProfsTer10
XM_006723317.2:c.5540_5541insT	XP_006723380.1:p.Leu1848ProfsTer10
XM_006723319.2:c.5540_5541insT	XP_006723382.1:p.Leu1848ProfsTer10
XM_011527205.2:c.5540_5541insT	XP_011525507.1:p.Leu1848ProfsTer10
XR_001753735.1:n.5623_5624insT
NM_000540.3:c.5540_5541insT MANE Select	NP_000531.2:p.Leu1848ProfsTer10
NM_001042723.2:c.5540_5541insT	NP_001036188.1:p.Leu1848ProfsTer10