Canonical Allele Identifier: CA2584911099

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580290-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580294dup , CM000681.2:g.38580294dup	GRCh38
NC_000019.9:g.39070934dup , CM000681.1:g.39070934dup	GRCh37
NC_000019.8:g.43762774dup	NCBI36
NG_008866.1:g.151595dup , LRG_766:g.151595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1448-76dup
ENST00000688602.1:c.2845-76dup
ENST00000689936.1:c.2817-76dup
ENST00000359596.8:c.14512-76dup MANE Select	ENSP00000352608.2:n.14512-76dup
ENST00000355481.8:c.14497-76dup	ENSP00000347667.3:n.14497-76dup
ENST00000359596.7:c.14512-76dup	ENSP00000352608.2:n.14512-76dup
ENST00000360985.7:c.14494-76dup	ENSP00000354254.4:n.14494-76dup
NM_000540.2:c.14512-76dup , LRG_766t1:c.14512-76dup	NP_000531.2:n.14512-76dup
NM_001042723.1:c.14497-76dup	NP_001036188.1:n.14497-76dup
XM_006723317.1:c.14494-76dup	XP_006723380.1:n.14494-76dup
XM_006723319.1:c.14479-76dup	XP_006723382.1:n.14479-76dup
XM_011527204.1:c.14509-76dup	XP_011525506.1:n.14509-76dup
XM_011527205.1:c.14425-76dup	XP_011525507.1:n.14425-76dup
XM_006723317.2:c.14494-76dup	XP_006723380.1:n.14494-76dup
XM_006723319.2:c.14479-76dup	XP_006723382.1:n.14479-76dup
XM_011527205.2:c.14425-76dup	XP_011525507.1:n.14425-76dup
NM_000540.3:c.14512-76dup MANE Select	NP_000531.2:n.14512-76dup
NM_001042723.2:c.14497-76dup	NP_001036188.1:n.14497-76dup