Canonical Allele Identifier: CA2584900693

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502765-G-GGGCAGGGGCAGGGGCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502782_38502783insAGGCAGGGGCAGGGGCAG , CM000681.2:g.38502782_38502783insAGGCAGGGGCAGGGGCAG	GRCh38
NC_000019.9:g.38993422_38993423insAGGCAGGGGCAGGGGCAG , CM000681.1:g.38993422_38993423insAGGCAGGGGCAGGGGCAG	GRCh37
NC_000019.8:g.43685262_43685263insAGGCAGGGGCAGGGGCAG	NCBI36
NG_008866.1:g.74083_74084insAGGCAGGGGCAGGGGCAG , LRG_766:g.74083_74084insAGGCAGGGGCAGGGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	ENSP00000471601.2:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
ENST00000359596.8:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG MANE Select	ENSP00000352608.2:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
ENST00000355481.8:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	ENSP00000347667.3:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
ENST00000359596.7:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	ENSP00000352608.2:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
ENST00000360985.7:c.7832+55_7832+56insAGGCAGGGGCAGGGGCAG	ENSP00000354254.4:n.7832+55_7832+56insAGGCAGGGGCAGGGGCAG
ENST00000594335.5:c.1287+55_1287+56insAGGCAGGGGCAGGGGCAG
NM_000540.2:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG , LRG_766t1:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	NP_000531.2:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
NM_001042723.1:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	NP_001036188.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
XM_006723317.1:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	XP_006723380.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
XM_006723319.1:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	XP_006723382.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
XM_011527204.1:c.7832+55_7832+56insAGGCAGGGGCAGGGGCAG	XP_011525506.1:n.7832+55_7832+56insAGGCAGGGGCAGGGGCAG
XM_011527205.1:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	XP_011525507.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
XM_006723317.2:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	XP_006723380.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
XM_006723319.2:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	XP_006723382.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
XM_011527205.2:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	XP_011525507.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
XR_001753735.1:n.7918+55_7918+56insAGGCAGGGGCAGGGGCAG
NM_000540.3:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG MANE Select	NP_000531.2:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG
NM_001042723.2:c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG	NP_001036188.1:n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG