Canonical Allele Identifier: CA995742780

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584635-C-CATT
• gnomAD v4: 19-38584635-C-CATT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584635_38584636insATT , CM000681.2:g.38584635_38584636insATT	GRCh38
NC_000019.9:g.39075275_39075276insATT , CM000681.1:g.39075275_39075276insATT	GRCh37
NC_000019.8:g.43767115_43767116insATT	NCBI36
NG_008866.1:g.155936_155937insATT , LRG_766:g.155936_155937insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-308_1583-307insATT
ENST00000688602.1:c.2980-308_2980-307insATT
ENST00000689936.1:c.2952-308_2952-307insATT
ENST00000359596.8:c.14647-308_14647-307insATT MANE Select	ENSP00000352608.2:n.14647-308_14647-307insATT
ENST00000355481.8:c.14632-308_14632-307insATT	ENSP00000347667.3:n.14632-308_14632-307insATT
ENST00000359596.7:c.14647-308_14647-307insATT	ENSP00000352608.2:n.14647-308_14647-307insATT
ENST00000360985.7:c.14629-308_14629-307insATT	ENSP00000354254.4:n.14629-308_14629-307insATT
NM_000540.2:c.14647-308_14647-307insATT , LRG_766t1:c.14647-308_14647-307insATT	NP_000531.2:n.14647-308_14647-307insATT
NM_001042723.1:c.14632-308_14632-307insATT	NP_001036188.1:n.14632-308_14632-307insATT
XM_006723317.1:c.14629-308_14629-307insATT	XP_006723380.1:n.14629-308_14629-307insATT
XM_006723319.1:c.14614-308_14614-307insATT	XP_006723382.1:n.14614-308_14614-307insATT
XM_011527204.1:c.14644-308_14644-307insATT	XP_011525506.1:n.14644-308_14644-307insATT
XM_011527205.1:c.14560-308_14560-307insATT	XP_011525507.1:n.14560-308_14560-307insATT
XM_006723317.2:c.14629-308_14629-307insATT	XP_006723380.1:n.14629-308_14629-307insATT
XM_006723319.2:c.14614-308_14614-307insATT	XP_006723382.1:n.14614-308_14614-307insATT
XM_011527205.2:c.14560-308_14560-307insATT	XP_011525507.1:n.14560-308_14560-307insATT
NM_000540.3:c.14647-308_14647-307insATT MANE Select	NP_000531.2:n.14647-308_14647-307insATT
NM_001042723.2:c.14632-308_14632-307insATT	NP_001036188.1:n.14632-308_14632-307insATT