Canonical Allele Identifier: CA2584902925

Gene: RYR1

Linked Data

• gnomAD v4: 19-38510928-A-ACCCTTCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510931_38510932insTTCAGTCCC , CM000681.2:g.38510931_38510932insTTCAGTCCC	GRCh38
NC_000019.9:g.39001571_39001572insTTCAGTCCC , CM000681.1:g.39001571_39001572insTTCAGTCCC	GRCh37
NC_000019.8:g.43693411_43693412insTTCAGTCCC	NCBI36
NG_008866.1:g.82232_82233insTTCAGTCCC , LRG_766:g.82232_82233insTTCAGTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9122+150_9122+151insTTCAGTCCC	ENSP00000471601.2:n.9122+150_9122+151insTTCAGTCCC
ENST00000359596.8:c.9122+150_9122+151insTTCAGTCCC MANE Select	ENSP00000352608.2:n.9122+150_9122+151insTTCAGTCCC
ENST00000355481.8:c.9122+150_9122+151insTTCAGTCCC	ENSP00000347667.3:n.9122+150_9122+151insTTCAGTCCC
ENST00000359596.7:c.9122+150_9122+151insTTCAGTCCC	ENSP00000352608.2:n.9122+150_9122+151insTTCAGTCCC
ENST00000360985.7:c.9119+150_9119+151insTTCAGTCCC	ENSP00000354254.4:n.9119+150_9119+151insTTCAGTCCC
ENST00000594335.5:c.2574+150_2574+151insTTCAGTCCC
NM_000540.2:c.9122+150_9122+151insTTCAGTCCC , LRG_766t1:c.9122+150_9122+151insTTCAGTCCC	NP_000531.2:n.9122+150_9122+151insTTCAGTCCC
NM_001042723.1:c.9122+150_9122+151insTTCAGTCCC	NP_001036188.1:n.9122+150_9122+151insTTCAGTCCC
XM_006723317.1:c.9122+150_9122+151insTTCAGTCCC	XP_006723380.1:n.9122+150_9122+151insTTCAGTCCC
XM_006723319.1:c.9122+150_9122+151insTTCAGTCCC	XP_006723382.1:n.9122+150_9122+151insTTCAGTCCC
XM_011527204.1:c.9119+150_9119+151insTTCAGTCCC	XP_011525506.1:n.9119+150_9119+151insTTCAGTCCC
XM_011527205.1:c.9122+150_9122+151insTTCAGTCCC	XP_011525507.1:n.9122+150_9122+151insTTCAGTCCC
XM_006723317.2:c.9122+150_9122+151insTTCAGTCCC	XP_006723380.1:n.9122+150_9122+151insTTCAGTCCC
XM_006723319.2:c.9122+150_9122+151insTTCAGTCCC	XP_006723382.1:n.9122+150_9122+151insTTCAGTCCC
XM_011527205.2:c.9122+150_9122+151insTTCAGTCCC	XP_011525507.1:n.9122+150_9122+151insTTCAGTCCC
XR_001753735.1:n.9205+150_9205+151insTTCAGTCCC
NM_000540.3:c.9122+150_9122+151insTTCAGTCCC MANE Select	NP_000531.2:n.9122+150_9122+151insTTCAGTCCC
NM_001042723.2:c.9122+150_9122+151insTTCAGTCCC	NP_001036188.1:n.9122+150_9122+151insTTCAGTCCC