Canonical Allele Identifier: CA995731646

Gene: RYR1

Linked Data

• dbSNP Id: rs1973354113
• gnomAD v3: 19-38565324-C-CGT
• gnomAD v4: 19-38565324-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565325_38565326insTG , CM000681.2:g.38565325_38565326insTG	GRCh38
NC_000019.9:g.39055965_39055966insTG , CM000681.1:g.39055965_39055966insTG	GRCh37
NC_000019.8:g.43747805_43747806insTG	NCBI36
NG_008866.1:g.136626_136627insTG , LRG_766:g.136626_136627insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1401_1402insTG
ENST00000689936.1:c.1383_1384insTG
ENST00000359596.8:c.12991_12992insTG MANE Select	ENSP00000352608.2:p.Ala4331ValfsTer11
ENST00000355481.8:c.12976_12977insTG	ENSP00000347667.3:p.Ala4326ValfsTer11
ENST00000359596.7:c.12991_12992insTG	ENSP00000352608.2:p.Ala4331ValfsTer11
ENST00000360985.7:c.12973_12974insTG	ENSP00000354254.4:p.Ala4325ValfsTer11
NM_000540.2:c.12991_12992insTG , LRG_766t1:c.12991_12992insTG	NP_000531.2:p.Ala4331ValfsTer11
NM_001042723.1:c.12976_12977insTG	NP_001036188.1:p.Ala4326ValfsTer11
XM_006723317.1:c.12973_12974insTG	XP_006723380.1:p.Ala4325ValfsTer11
XM_006723319.1:c.12958_12959insTG	XP_006723382.1:p.Ala4320ValfsTer11
XM_011527204.1:c.12988_12989insTG	XP_011525506.1:p.Ala4330ValfsTer11
XM_011527205.1:c.12991_12992insTG	XP_011525507.1:p.Ala4331ValfsTer11
XM_006723317.2:c.12973_12974insTG	XP_006723380.1:p.Ala4325ValfsTer11
XM_006723319.2:c.12958_12959insTG	XP_006723382.1:p.Ala4320ValfsTer11
XM_011527205.2:c.12991_12992insTG	XP_011525507.1:p.Ala4331ValfsTer11
NM_000540.3:c.12991_12992insTG MANE Select	NP_000531.2:p.Ala4331ValfsTer11
NM_001042723.2:c.12976_12977insTG	NP_001036188.1:p.Ala4326ValfsTer11