Canonical Allele Identifier: CA080772

Gene: RYR1

Linked Data

• ClinVar Variation Id: 285661
• ClinVar RCV Id: RCV000721294 ; RCV004529471
• dbSNP Id: rs398123469
• ExAC: 19:39055825 GCACGGCGGC / G
• gnomAD v2: 19-39055825-GCACGGCGGC-G
• gnomAD v3: 19-38565185-GCACGGCGGC-G
• gnomAD v4: 19-38565185-GCACGGCGGC-G
• MyVariant Identifiers: chr19:g.39055835_39055843del (hg19) ; chr19:g.39055826_39055834del (hg19) ; chr19:g.38565195_38565203del (hg38) ; chr19:g.38565186_38565194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565195_38565203del , CM000681.2:g.38565195_38565203del	GRCh38
NC_000019.9:g.39055835_39055843del , CM000681.1:g.39055835_39055843del	GRCh37
NC_000019.8:g.43747675_43747683del	NCBI36
NG_008866.1:g.136496_136504del , LRG_766:g.136496_136504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1271_1279del
ENST00000689936.1:c.1253_1261del
ENST00000359596.8:c.12861_12869del MANE Select	ENSP00000352608.2:p.Thr4288_Ala4290del
ENST00000355481.8:c.12846_12854del	ENSP00000347667.3:p.Thr4283_Ala4285del
ENST00000359596.7:c.12861_12869del	ENSP00000352608.2:p.Thr4288_Ala4290del
ENST00000360985.7:c.12843_12851del	ENSP00000354254.4:p.Thr4282_Ala4284del
ENST00000594335.5:c.6230_6238del
NM_000540.2:c.12861_12869del , LRG_766t1:c.12861_12869del	NP_000531.2:p.Thr4288_Ala4290del
NM_001042723.1:c.12846_12854del	NP_001036188.1:p.Thr4283_Ala4285del
XM_006723317.1:c.12843_12851del	XP_006723380.1:p.Thr4282_Ala4284del
XM_006723319.1:c.12828_12836del	XP_006723382.1:p.Thr4277_Ala4279del
XM_011527204.1:c.12858_12866del	XP_011525506.1:p.Thr4287_Ala4289del
XM_011527205.1:c.12861_12869del	XP_011525507.1:p.Thr4288_Ala4290del
XM_006723317.2:c.12843_12851del	XP_006723380.1:p.Thr4282_Ala4284del
XM_006723319.2:c.12828_12836del	XP_006723382.1:p.Thr4277_Ala4279del
XM_011527205.2:c.12861_12869del	XP_011525507.1:p.Thr4288_Ala4290del
NM_000540.3:c.12861_12869del MANE Select	NP_000531.2:p.Thr4288_Ala4290del
NM_001042723.2:c.12846_12854del	NP_001036188.1:p.Thr4283_Ala4285del