Canonical Allele Identifier: CA995742813

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584666-A-ATT
• gnomAD v4: 19-38584666-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584666_38584667insTT , CM000681.2:g.38584666_38584667insTT	GRCh38
NC_000019.9:g.39075306_39075307insTT , CM000681.1:g.39075306_39075307insTT	GRCh37
NC_000019.8:g.43767146_43767147insTT	NCBI36
NG_008866.1:g.155967_155968insTT , LRG_766:g.155967_155968insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-277_1583-276insTT
ENST00000688602.1:c.2980-277_2980-276insTT
ENST00000689936.1:c.2952-277_2952-276insTT
ENST00000359596.8:c.14647-277_14647-276insTT MANE Select	ENSP00000352608.2:n.14647-277_14647-276insTT
ENST00000355481.8:c.14632-277_14632-276insTT	ENSP00000347667.3:n.14632-277_14632-276insTT
ENST00000359596.7:c.14647-277_14647-276insTT	ENSP00000352608.2:n.14647-277_14647-276insTT
ENST00000360985.7:c.14629-277_14629-276insTT	ENSP00000354254.4:n.14629-277_14629-276insTT
NM_000540.2:c.14647-277_14647-276insTT , LRG_766t1:c.14647-277_14647-276insTT	NP_000531.2:n.14647-277_14647-276insTT
NM_001042723.1:c.14632-277_14632-276insTT	NP_001036188.1:n.14632-277_14632-276insTT
XM_006723317.1:c.14629-277_14629-276insTT	XP_006723380.1:n.14629-277_14629-276insTT
XM_006723319.1:c.14614-277_14614-276insTT	XP_006723382.1:n.14614-277_14614-276insTT
XM_011527204.1:c.14644-277_14644-276insTT	XP_011525506.1:n.14644-277_14644-276insTT
XM_011527205.1:c.14560-277_14560-276insTT	XP_011525507.1:n.14560-277_14560-276insTT
XM_006723317.2:c.14629-277_14629-276insTT	XP_006723380.1:n.14629-277_14629-276insTT
XM_006723319.2:c.14614-277_14614-276insTT	XP_006723382.1:n.14614-277_14614-276insTT
XM_011527205.2:c.14560-277_14560-276insTT	XP_011525507.1:n.14560-277_14560-276insTT
NM_000540.3:c.14647-277_14647-276insTT MANE Select	NP_000531.2:n.14647-277_14647-276insTT
NM_001042723.2:c.14632-277_14632-276insTT	NP_001036188.1:n.14632-277_14632-276insTT