Canonical Allele Identifier: CA2335092384

Gene: RYR1

Linked Data

• dbSNP Id: rs1974139632

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580258_38580259insT , CM000681.2:g.38580258_38580259insT	GRCh38
NC_000019.9:g.39070898_39070899insT , CM000681.1:g.39070898_39070899insT	GRCh37
NC_000019.8:g.43762738_43762739insT	NCBI36
NG_008866.1:g.151559_151560insT , LRG_766:g.151559_151560insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1448-112_1448-111insT
ENST00000688602.1:c.2845-112_2845-111insT
ENST00000689936.1:c.2817-112_2817-111insT
ENST00000359596.8:c.14512-112_14512-111insT MANE Select	ENSP00000352608.2:n.14512-112_14512-111in...
ENST00000355481.8:c.14497-112_14497-111insT	ENSP00000347667.3:n.14497-112_14497-111in...
ENST00000359596.7:c.14512-112_14512-111insT	ENSP00000352608.2:n.14512-112_14512-111in...
ENST00000360985.7:c.14494-112_14494-111insT	ENSP00000354254.4:n.14494-112_14494-111in...
NM_000540.2:c.14512-112_14512-111insT , LRG_766t1:c.14512-112_14512-111insT	NP_000531.2:n.14512-112_14512-111insT
NM_001042723.1:c.14497-112_14497-111insT	NP_001036188.1:n.14497-112_14497-111insT
XM_006723317.1:c.14494-112_14494-111insT	XP_006723380.1:n.14494-112_14494-111insT
XM_006723319.1:c.14479-112_14479-111insT	XP_006723382.1:n.14479-112_14479-111insT
XM_011527204.1:c.14509-112_14509-111insT	XP_011525506.1:n.14509-112_14509-111insT
XM_011527205.1:c.14425-112_14425-111insT	XP_011525507.1:n.14425-112_14425-111insT
XM_006723317.2:c.14494-112_14494-111insT	XP_006723380.1:n.14494-112_14494-111insT
XM_006723319.2:c.14479-112_14479-111insT	XP_006723382.1:n.14479-112_14479-111insT
XM_011527205.2:c.14425-112_14425-111insT	XP_011525507.1:n.14425-112_14425-111insT
NM_000540.3:c.14512-112_14512-111insT MANE Select	NP_000531.2:n.14512-112_14512-111insT
NM_001042723.2:c.14497-112_14497-111insT	NP_001036188.1:n.14497-112_14497-111insT