Canonical Allele Identifier: CA633066821

Gene: RYR1

Linked Data

• dbSNP Id: rs1215011799
• gnomAD v2: 19-39055833-GCCA-G
• gnomAD v3: 19-38565193-GCCA-G
• gnomAD v4: 19-38565193-GCCA-G
• MyVariant Identifiers: chr19:g.39055834_39055836del (hg19) ; chr19:g.38565194_38565196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565195_38565197del , CM000681.2:g.38565195_38565197del	GRCh38
NC_000019.9:g.39055835_39055837del , CM000681.1:g.39055835_39055837del	GRCh37
NC_000019.8:g.43747675_43747677del	NCBI36
NG_008866.1:g.136496_136498del , LRG_766:g.136496_136498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1271_1273del
ENST00000689936.1:c.1253_1255del
ENST00000359596.8:c.12861_12863del MANE Select	ENSP00000352608.2:p.Thr4288del
ENST00000355481.8:c.12846_12848del	ENSP00000347667.3:p.Thr4283del
ENST00000359596.7:c.12861_12863del	ENSP00000352608.2:p.Thr4288del
ENST00000360985.7:c.12843_12845del	ENSP00000354254.4:p.Thr4282del
ENST00000594335.5:c.6230_6232del
NM_000540.2:c.12861_12863del , LRG_766t1:c.12861_12863del	NP_000531.2:p.Thr4288del
NM_001042723.1:c.12846_12848del	NP_001036188.1:p.Thr4283del
XM_006723317.1:c.12843_12845del	XP_006723380.1:p.Thr4282del
XM_006723319.1:c.12828_12830del	XP_006723382.1:p.Thr4277del
XM_011527204.1:c.12858_12860del	XP_011525506.1:p.Thr4287del
XM_011527205.1:c.12861_12863del	XP_011525507.1:p.Thr4288del
XM_006723317.2:c.12843_12845del	XP_006723380.1:p.Thr4282del
XM_006723319.2:c.12828_12830del	XP_006723382.1:p.Thr4277del
XM_011527205.2:c.12861_12863del	XP_011525507.1:p.Thr4288del
NM_000540.3:c.12861_12863del MANE Select	NP_000531.2:p.Thr4288del
NM_001042723.2:c.12846_12848del	NP_001036188.1:p.Thr4283del